• 2024
  Houzelstein D, Eozenou C, Lagos CF, Elzaiat M, Bignon-Topalovic J, Gonzalez I, Laville V, Schlick L, Wankanit S, Madon P, Kirtane J, Athalye A, Buonocore F, Bigou S, Conway GS, Bohl D, Achermann JC, Bashamboo A, McElreavey K, A conserved NR5A1-responsive enhancer regulates SRY in testis-determination., Nat Commun 2024 Mar; 15(1): 2796.
• 2023
  Rjiba K, Slimani W, Gaddas M, Hassine IH, Jelloul A, Khelifa HB, El Amri F, Zaouali M, Mcelreavey K, Saad A, Mougou-Zerelli S, Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis., J Clin Res Pediatr Endocrinol 2023 Feb; 15(1): 25-34.
• 2023
  Rjiba K, Mougou-Zerelli S, Hamida IH, Saad G, Khadija B, Jelloul A, Slimani W, Hasni Y, Dimassi S, Khelifa HB, Sallem A, Kammoun M, Abdallah HH, Gribaa M, Bignon-Topalovic J, Chelly S, Khairi H, Bibi M, Kacem M, Saad A, Bashamboo A, McElreavey K, Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development., Reprod Biol Endocrinol 2023 Jan; 21(1): 2.
• 2023
  Gonen N, Eozenou C, Mitter R, Elzaiat M, Stévant I, Aviram R, Bernardo AS, Chervova A, Wankanit S, Frachon E, Commère PH, Brailly-Tabard S, Valon L, Barrio Cano L, Levayer R, Mazen I, Gobaa S, Smith JC, McElreavey K, Lovell-Badge R, Bashamboo A, , In vitro cellular reprogramming to model gonad development and its disorders., Sci Adv 2023 Jan; 9(1): eabn9793.
• 2023
  McElreavey K, Bashamboo A, Monogenic Forms of DSD: An Update., Horm Res Paediatr 2023 ; 96(2): 144-168.
• 2022
  Alla A, Ongoth FEM, Tahiri A, Karrou M, Rouf S, Benhaddou H, Kamaoui I, Mcelreavey K, Latrech H, Novel homozygous inactivating mutation in the luteinizing hormone receptor gene (LHCGR) associated with 46, XY DSD in a Moroccan family., J Pediatr Endocrinol Metab 2022 Sep; 35(9): 1215-1221.
• 2022
  Globa E, Zelinska N, Shcherbak Y, Bignon-Topalovic J, Bashamboo A, MсElreavey K, , Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings., Front Endocrinol (Lausanne) 2022 ; 13(): 810782.
• 2022
  McElreavey K, Sinclair A, Genetics of Differences of Sex Development., Sex Dev 2022 ; 16(2-3): 77-79.
• 2022
  McElreavey K, Pailhoux E, Bashamboo A, DHX37 and 46,XY DSD: A New Ribosomopathy?, Sex Dev 2022 ; 16(2-3): 194-206.
• 2022
  Zidoune H, Ladjouze A, Chellat-Rezgoune D, Boukri A, Dib SA, Nouri N, Tebibel M, Sifi K, Abadi N, Satta D, Benelmadani Y, Bignon-Topalovic J, El-Zaiat-Munsch M, Bashamboo A, McElreavey K, Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort., Front Genet 2022 ; 13(): 900574.
• 2022
  Elzaiat M, McElreavey K, Bashamboo A, Genetics of 46,XY gonadal dysgenesis., Best Pract Res Clin Endocrinol Metab 2022 Jan; 36(1): 101633.
• 2021
  Rjiba K, Soyah N, Kammoun M, Hadj Hmida I, Saad A, Mcelreavey K, Mougou-Zerelli S, Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case., Eur J Med Genet 2021 Sep; 64(9): 104285.
• 2021
  Derbel R, Sellami H, Rebai A, Gdoura R, Mcelreavey E, Ammar-Keskes L, , Can leukocytospermia predict prostate cancer via its effects on mitochondrial DNA?, Andrologia 2021 Sep; 53(8): e14129.
• 2021
  Mazen I, Mekkawy M, Kamel A, Essawi M, Hassan H, Abdel-Hamid M, Amr K, Soliman H, El-Ruby M, Torky A, El Gammal M, Elaidy A, Bashamboo A, McElreavey K, Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development., Am J Med Genet A 2021 Jun; 185(6): 1666-1677.
• 2021
  Globa E, Zelinska N, Siryk N, Bashamboo A, McElreavey K, Atypical Clinical Presentation of Persistent Müllerian Duct Syndrome in Siblings., Sex Dev 2021 Mar; (): 1-6.
• 2021
  Zidoune H, Martinerie L, Tan DS, Askari M, Rezgoune D, Ladjouze A, Boukri A, Benelmadani Y, Sifi K, Abadi N, Satta D, Rastari M, Seresht-Ahmadi M, Bignon-Topalovic J, Mazen I, Leger J, Simon D, Brauner R, Totonchi M, Jauch R, Bashamboo A, McElreavey K, Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37., Sex Dev 2021 ; 15(4): 244-252.
• 2021
  Brauner R, Bignon-Topalovic J, Bashamboo A, McElreavey K, , Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism., Front Pediatr 2021 ; 9(): 641397.
• 2021
  Mkaouar R, Abdallah LCB, Naouali C, Lahbib S, Turki Z, Elouej S, Bouyacoub Y, Somai M, Mcelreavey K, Bashamboo A, Abdelhak S, Messaoud O, Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism., Front Genet 2021 ; 12(): 665174.
• 2020
  Eozenou C, Gonen N, Touzon MS, Jorgensen A, Yatsenko SA, Fusee L, Kamel AK, Gellen B, Guercio G, Singh P, Witchel S, Berman AJ, Mainpal R, Totonchi M, Mohseni Meybodi A, Askari M, Merel-Chali T, Bignon-Topalovic J, Migale R, Costanzo M, Marino R, Ramirez P, Perez Garrido N, Berensztein E, Mekkawy MK, Schimenti JC, Bertalan R, Mazen I, McElreavey K, Belgorosky A, Lovell-Badge R, Rajkovic A, Bashamboo A, , Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene., Proc. Natl. Acad. Sci. U.S.A. 2020 Jun; 117(24): 13680-13688.
• 2019
  McElreavey K, Jorgensen A, Eozenou C, Merel T, Bignon-Topalovic J, Tan DS, Houzelstein D, Buonocore F, Warr N, Kay RGG, Peycelon M, Siffroi JP, Mazen I, Achermann JC, Shcherbak Y, Leger J, Sallai A, Carel JC, Martinerie L, Le Ru R, Conway GS, Mignot B, Van Maldergem L, Bertalan R, Globa E, Brauner R, Jauch R, Nef S, Greenfield A, Bashamboo A, Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome, Genet. Med. 2019 Jul;.
• 2019
  Eozenou C, Bashamboo A, Bignon-Topalovic J, Merel T, Zwermann O, Lourenco D, Lottmann H, Lichtenauer U, Rojo S, Beuschlein F, McElreavey K, Brauner R, The TALE homeodomain of PBX1 is involved in human primary testis-determination, Hum. Mutat. 2019 May;.
• 2018
  Audi L, Ahmed SF, Krone N, Cools M, McElreavey K, Holterhus PM, Greenfield A, Bashamboo A, Hiort O, Wudy SA, McGowan R, , GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’, Eur. J. Endocrinol. 2018 10;179(4):R197-R206.
• 2018
  Sreenivasan R, Ludbrook L, Fisher B, Declosmenil F, Knower KC, Croft B, Bird AD, Ryan J, Bashamboo A, Sinclair AH, Koopman P, McElreavey K, Poulat F, Harley VR, Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer, Hum. Mutat. 2018 Dec;39(12):1861-1874.
• 2018
  Harris A, Siggers P, Corrochano S, Warr N, Sagar D, Grimes DT, Suzuki M, Burdine RD, Cong F, Koo BK, Clevers H, Stévant I, Nef S, Wells S, Brauner R, Ben Rhouma B, Belguith N, Eozenou C, Bignon-Topalovic J, Bashamboo A, McElreavey K, Greenfield A, ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling, Proc. Natl. Acad. Sci. U.S.A. 2018 05;115(21):5474-5479.
• 2018
  Portnoi MF, Dumargne MC, Rojo S, Witchel SF, Duncan AJ, Eozenou C, Bignon-Topalovic J, Yatsenko SA, Rajkovic A, Reyes-Mugica M, Almstrup K, Fusee L, Srivastava Y, Chantot-Bastaraud S, Hyon C, Louis-Sylvestre C, Validire P, de Malleray Pichard C, Ravel C, Christin-Maitre S, Brauner R, Rossetti R, Persani L, Charreau EH, Dain L, Chiauzzi VA, Mazen I, Rouba H, Schluth-Bolard C, MacGowan S, McLean WHI, Patin E, Rajpert-De Meyts E, Jauch R, Achermann JC, Siffroi JP, McElreavey K, Bashamboo A, Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies, Hum. Mol. Genet. 2018 04;27(7):1228-1240.
• 2018
  Bashamboo A, Eozenou C, Jorgensen A, Bignon-Topalovic J, Siffroi JP, Hyon C, Tar A, Nagy P, Sólyom J, Halász Z, Paye-Jaouen A, Lambert S, Rodriguez-Buritica D, Bertalan R, Martinerie L, Rajpert-De Meyts E, Achermann JC, McElreavey K, Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children, Am. J. Hum. Genet. 2018 03;102(3):487-493.
• 2018
  Bashamboo A, Eozenou C, Jorgensen A, Bignon-Topalovic J, Siffroi JP, Hyon C, Tar A, Nagy P, Sólyom J, Halász Z, Paye-Jaouen A, Lambert S, Rodriguez-Buritica D, Bertalan R, Martinerie L, Rajpert-De Meyts E, Achermann JC, McElreavey K, Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children., Am J Hum Genet. 2018 Mar 1;102(3):487-493.
• 2017
  Naasse Y, Bakhchane A, Charoute H, Jennane F, Bignon-Topalovic J, Malki A, Bashamboo A, Barakat A, Rouba H, McElreavey K, A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD, Sex Dev 2017;11(5-6):269-274.
• 2017
  Bashamboo A, Bignon-Topalovic J, Moussi N, McElreavey K, Brauner R, Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome, J. Clin. Endocrinol. Metab. 2017 07;102(7):2401-2406.
• 2017
  Laroussi N, Messaoud O, Chargui M, Ben Fayala C, Elahlafi A, Mokni M, Bashamboo A, McElreavey K, Boubaker MS, Yacoub Youssef H, Abdelhak S, Identification of a Novel Mutation of Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing, Ann Dermatol 2017 Apr;29(2):243-246.
• 2017
  Bashamboo A, Eozenou C, Rojo S, McElreavey K, Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development, Clin. Genet. 2017 02;91(2):143-156.
• 2016
  Bashamboo A, McElreavey K, Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development, Sex Dev 2016;10(5-6):313-325.
• 2016
  Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B, , Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC, A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development, Hum. Mol. Genet. 2016 12;25(23):5286.
• 2016
  Brauner R, Picard-Dieval F, Lottmann H, Rouget S, Bignon-Topalovic J, Bashamboo A, McElreavey K, Familial forms of disorders of sex development may be common if infertility is considered a comorbidity, BMC Pediatr 2016 11;16(1):195.
• 2016
  Durand A, Bashamboo A, McElreavey K, Brauner R, Familial early puberty: presentation and inheritance pattern in 139 families, BMC Endocr Disord 2016 Sep;16(1):50.
• 2016
  Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B, , Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC, A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development, Hum. Mol. Genet. 2016 08;25(16):3446-3453.
• 2016
  Mazen I, Abdel-Hamid M, Mekkawy M, Bignon-Topalovic J, Boudjenah R, El Gammal M, Essawi M, Bashamboo A, McElreavey K, Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis, Sex Dev 2016;10(3):147-51.
• 2016
  Mazen I, Amin H, Kamel A, El Ruby M, Bignon-Topalovic J, Bashamboo A, McElreavey K, Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development, Sex Dev 2016;10(1):16-22.
• 2016
  Ben Hadj Hmida I, Mougou-Zerelli S, Hadded A, Dimassi S, Kammoun M, Bignon-Topalovic J, Bibi M, Saad A, Bashamboo A, McElreavey K, Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea, Fertil. Steril. 2016 07;106(1):225-229.e11.
• 2015
  Bashamboo A, Bignon-Topalovic J, Rouba H, McElreavey K, Brauner R, A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome, J. Clin. Endocrinol. Metab. 2016 Jan;101(1):12-5.
• 2015
  Bashamboo A, McElreavey K, Human sex-determination and disorders of sex-development (DSD), Semin. Cell Dev. Biol. 2015 Sep;45:77-83.
• 2015
  Murphy MW, Lee JK, Rojo S, Gearhart MD, Kurahashi K, Banerjee S, Loeuille GA, Bashamboo A, McElreavey K, Zarkower D, Aihara H, Bardwell VJ, An ancient protein-DNA interaction underlying metazoan sex determination, Nat. Struct. Mol. Biol. 2015 Jun;22(6):442-51.
• 2015
  Hyon C, Chantot-Bastaraud S, Harbuz R, Bhouri R, Perrot N, Peycelon M, Sibony M, Rojo S, Piguel X, Bilan F, Gilbert-Dussardier B, Kitzis A, McElreavey K, Siffroi JP, Bashamboo A, Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of sex development (DSD), Am. J. Med. Genet. A 2015 Apr;.
• 2015
  Bastian C, Muller JB, Lortat-Jacob S, Nihoul-Fékété C, Bignon-Topalovic J, McElreavey K, Bashamboo A, Brauner R, Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis, Fertil. Steril. 2015 May;103(5):1297-304.
• 2015
  Montjean D, Zini A, Ravel C, Belloc S, Dalleac A, Copin H, Boyer P, McElreavey K, Benkhalifa M, Sperm global DNA methylation level: association with semen parameters and genome integrity, Andrology 2015 Mar;3(2):235-40.
• 2014
  Brauner R, Pierrepont S, Bignon-Topalovic J, McElreavey K, Bashamboo A, Etiology of primary ovarian insufficiency in a series young girls presenting at a pediatric endocrinology center, Eur. J. Pediatr. 2015 Jun;174(6):767-73.
• 2014
  Jaillard S, Bashamboo A, Pasquier L, Belaud-Rotureau MA, McElreavey K, Odent S, Ravel C, Gene dosage effects in 46, XY DSD: usefulness of CGH technologies for diagnosis, J. Assist. Reprod. Genet. 2015 Feb;32(2):287-91.
• 2014
  Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS, Leitch A, Nürnberg G, Toliat MR, Murray JE, Hunt D, Khan F, Ali Z, Tinschert S, Ding J, Keith C, Harley ME, Heyn P, Müller R, Hoffmann I, Daire VC, Dollfus H, Dupuis L, Bashamboo A, McElreavey K, Kariminejad A, Mendoza-Londono R, Moore AT, Saggar A, Schlechter C, Weleber R, Thiele H, Altmüller J, Höhne W, Hurles ME, Noegel AA, Baig SM, Nürnberg P, Jackson AP, Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy, Nat. Genet. 2014 Dec;46(12):1283-92.
• 2014
  Tobias ES, McElreavey K, Next generation sequencing for disorders of sex development, Endocr Dev 2014;27:53-62.
• 2014
  Romdhane L, Ben Halim N, Rejeb I, Kefi R, Bouyacoub Y, Ben Rekaya M, Messai H, Messaoud O, Riahi Z, Bonnet C, Ben Rhouma F, Nagara M, Petit C, McElreavey K, Romeo G, Abdelhak S, Specific aspects of consanguinity: some examples from the Tunisian population, Hum. Hered. 2014;77(1-4):167-74.
• 2014
  Bashamboo A, McElreavey K, Consanguinity and disorders of sex development, Hum. Hered. 2014;77(1-4):108-17.
• 2014
  Sirisena ND, McElreavey K, Bashamboo A, de Silva KS, Jayasekara RW, Dissanayake VH, A child with a novel de novo mutation in the aristaless domain of the aristaless-related homeobox (ARX) gene presenting with ambiguous genitalia and psychomotor delay, Sex Dev 2014;8(4):156-9.
• 2014
  Riahi Z, Bonnet C, Zainine R, Louha M, Bouyacoub Y, Laroussi N, Chargui M, Kefi R, Jonard L, Dorboz I, Hardelin JP, Salah SB, Levilliers J, Weil D, McElreavey K, Boespflug OT, Besbes G, Abdelhak S, Petit C, Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness, PLoS ONE 2014;9(6):e99797.
• 2014
  Bashamboo A, Brauner R, Bignon-Topalovic J, Lortat-Jacob S, Karageorgou V, Lourenco D, Guffanti A, McElreavey K, Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination, Hum. Mol. Genet. 2014 Jul;23(14):3657-65.
• 2014
  Eloualid A, Rouba H, Rhaissi H, Barakat A, Louanjli N, Bashamboo A, McElreavey K, Prevalence of the Aurora kinase C c.144delC mutation in infertile Moroccan men, Fertil. Steril. 2014 Apr;101(4):1086-90.
• 2013
  Vizeneux A, Hilfiger A, Bouligand J, Pouillot M, Brailly-Tabard S, Bashamboo A, McElreavey K, Brauner R, Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys, PLoS ONE 2013;8(10):e77827.
• 2013
  Montjean D, Ravel C, Benkhalifa M, Cohen-Bacrie P, Berthaut I, Bashamboo A, McElreavey K, Methylation changes in mature sperm deoxyribonucleic acid from oligozoospermic men: assessment of genetic variants and assisted reproductive technology outcome, Fertil. Steril. 2013 Nov;100(5):1241-7.
• 2013
  Berthaut I, Montjean D, Dessolle L, Morcel K, Deluen F, Poirot C, Bashamboo A, McElreavey K, Ravel C, Effect of temozolomide on male gametes: an epigenetic risk to the offspring?, J. Assist. Reprod. Genet. 2013 Jun;30(6):827-33.
• 2013
  Kalfa N, Philibert P, Werner R, Audran F, Bashamboo A, Lehors H, Haddad M, Guys JM, Reynaud R, Alessandrini P, Wagner K, Kurzenne JY, Bastiani F, Bréaud J, Valla JS, Lacombe GM, Orsini M, Daures JP, Hiort O, Paris F, McElreavey K, Sultan C, Minor hypospadias: the “tip of the iceberg” of the partial androgen insensitivity syndrome, PLoS ONE 2013;8(4):e61824.
• 2013
  Ahmed SF, Bashamboo A, Lucas-Herald A, McElreavey K, Understanding the genetic aetiology in patients with XY DSD, Br. Med. Bull. 2013;106:67-89.
• 2013
  Chellat D, Rezgoune ML, McElreavey K, Kherouatou N, Benbouhadja S, Douadi H, Cherifa B, Abadi N, Satta D, First study of microdeletions in the Y chromosome of Algerian infertile men with idiopathic oligo- or azoospermia, Urol. Int. 2013;90(4):455-9.
• 2012
  Hughes IA, Morel Y, McElreavey K, Rogol A, Biological assessment of abnormal genitalia, J Pediatr Urol 2012 Dec;8(6):592-6.
• 2012
  Bashamboo A, McElreavey K, Gene mutations associated with anomalies of human gonad formation, Sex Dev 2013;7(1-3):126-46.
• 2012
  Galeotti C, Lahlou Z, Goullon D, Sarda-Thibault H, Cahen-Varsaux J, Bignon-Topalovic J, Bashamboo A, McElreavey K, Brauner R, Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutations, PLoS ONE 2012;7(6):e39828.
• 2012
  Ghorbel M, Gargouri SB, Zribi N, Abdallah FB, Cherif M, Keskes R, Chakroun N, Sellami A, McElreavey K, Fakhfakh F, Ammar-Keskes L, Partial microdeletions in the Y-chromosome AZFc region are not a significant risk factor for spermatogenic impairment in Tunisian infertile men, Genet Test Mol Biomarkers 2012 Jul;16(7):775-9.
• 2012
  Eloualid A, Rhaissi H, Reguig A, Bounaceur S, El Houate B, Abidi O, Charif M, Louanjli N, Chadli E, Barakat A, Bashamboo A, McElreavey K, Rouba H, Association of spermatogenic failure with the b2/b3 partial AZFc deletion, PLoS ONE 2012;7(4):e34902.
• 2012
  Radhakrishna U, Nath SK, McElreavey K, Ratnamala U, Sun C, Maiti AK, Gagnebin M, Béna F, Newkirk HL, Sharp AJ, Everman DB, Murray JC, Schwartz CE, Antonarakis SE, Butler MG, Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele, J. Med. Genet. 2012 Apr;49(4):270-6.
• 2012
  Eloualid A, Abidi O, Charif M, El Houate B, Benrahma H, Louanjli N, Chadli E, Ajjemami M, Barakat A, Bashamboo A, McElreavey K, Rhaissi H, Rouba H, Association of the MTHFR A1298C variant with unexplained severe male infertility, PLoS ONE 2012;7(3):e34111.
• 2012
  Ravel C, Bashamboo A, Bignon-Topalovic J, Siffroi JP, McElreavey K, Darai E, Polymorphisms in DLGH1 and LAMC1 in Mayer-Rokitansky-Kuster-Hauser syndrome, Reprod. Biomed. Online 2012 Apr;24(4):462-5.
• 2012
  Seeherunvong T, Ukarapong S, McElreavey K, Berkovitz GD, Perera EM, Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD, J. Pediatr. Endocrinol. Metab. 2012;25(1-2):121-3.
• 2011
  Allali S, Muller JB, Brauner R, Lourenço D, Boudjenah R, Karageorgou V, Trivin C, Lottmann H, Lortat-Jacob S, Nihoul-Fékété C, De Dreuzy O, McElreavey K, Bashamboo A, Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias, PLoS ONE 2011;6(10):e24117.
• 2011
  Brauner R, Neve M, Allali S, Trivin C, Lottmann H, Bashamboo A, McElreavey K, Clinical, biological and genetic analysis of anorchia in 26 boys, PLoS ONE 2011;6(8):e23292.
• 2011
  Zou Z, Hu H, Song M, Shen Y, Guo X, McElreavey K, Bittles AH, Wang W, Semen quality analysis of military personnel from six geographical areas of the People’s Republic of China, Fertil. Steril. 2011 May;95(6):2018-23, 2023.e1-3.
• 2011
  Montjean D, Benkhalifa M, Dessolle L, Cohen-Bacrie P, Belloc S, Siffroi JP, Ravel C, Bashamboo A, McElreavey K, Polymorphisms in MTHFR and MTRR genes associated with blood plasma homocysteine concentration and sperm counts, Fertil. Steril. 2011 Feb;95(2):635-40.
• 2011
  Lourenço D, Brauner R, Rybczynska M, Nihoul-Fékété C, McElreavey K, Bashamboo A, Loss-of-function mutation in GATA4 causes anomalies of human testicular development, Proc. Natl. Acad. Sci. U.S.A. 2011 Jan;108(4):1597-602.
• 2011
  Dumic M, New MI, Lin-Su K, McElreavey K, Leibel NI, Ciglar S, Nimkarn S, Vinci G, Wilson J, Lasan R, Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development, Adv. Exp. Med. Biol. 2011;707:169-70.
• 2011
  McElreavey K, Bashamboo A, Genetic disorders of sex differentiation, Adv. Exp. Med. Biol. 2011;707:91-9.
• 2010
  Bashamboo A, Ferraz-de-Souza B, Lourenço D, Lin L, Sebire NJ, Montjean D, Bignon-Topalovic J, Mandelbaum J, Siffroi JP, Christin-Maitre S, Radhakrishna U, Rouba H, Ravel C, Seeler J, Achermann JC, McElreavey K, Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1, Am. J. Hum. Genet. 2010 Oct;87(4):505-12.
• 2010
  Bashamboo A, Ledig S, Wieacker P, Achermann JC, Achermann J, McElreavey K, New technologies for the identification of novel genetic markers of disorders of sex development (DSD), Sex Dev 2010 Sep;4(4-5):213-24.
• 2010
  Brauner R, Bashamboo A, Rouget S, Goulet M, Philibert P, Sarda-Thibault H, Trivin C, Misrahi M, Sultan C, McElreavey K, Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls, PLoS ONE 2010;5(6):e11282.
• 2010
  Bashamboo A, McElreavey K, NR5A1/SF-1 and development and function of the ovary, Ann. Endocrinol. (Paris) 2010 May;71(3):177-82.
• 2009
  Bashamboo A, Ravel C, Brauner R, McElreavey K, [NR5A1 and ovarian failure], Med Sci (Paris) 2009 Oct;25(10):809-13.
• 2009
  Ravel C, Chantot-Bastaraud S, Chalmey C, Barreiro L, Aknin-Seifer I, Pfeffer J, Berthaut I, Mathieu EE, Mandelbaum J, Siffroi JP, McElreavey K, Bashamboo A, Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts, PLoS ONE 2009;4(8):e6540.
• 2009
  Ravel C, Lakhal B, Elghezal H, Braham R, Saad A, Bashamboo A, Siffroi JP, McElreavey K, Christin-Maitre S, Novel human pathological mutations. Gene symbol: SRY. Disease: XY sex reversal, Hum. Genet. 2009 Aug;126(2):333.
• 2009
  Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K, Mutations in the protamine locus: association with spermatogenic failure?, Mol. Hum. Reprod. 2009 Nov;15(11):733-8.
• 2009
  Vinci G, Brauner R, Tar A, Rouba H, Sheth J, Sheth F, Ravel C, McElreavey K, Bashamboo A, Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility, Fertil. Steril. 2009 Oct;92(4):1347-50.
• 2009
  Lourenço D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, Boudjenah R, Guerra-Junior G, Maciel-Guerra AT, Achermann JC, McElreavey K, Bashamboo A, Mutations in NR5A1 associated with ovarian insufficiency, N. Engl. J. Med. 2009 Mar;360(12):1200-10.
• 2009
  Ravel C, Lorenço D, Dessolle L, Mandelbaum J, McElreavey K, Darai E, Siffroi JP, Mutational analysis of the WNT gene family in women with Mayer-Rokitansky-Kuster-Hauser syndrome, Fertil. Steril. 2009 Apr;91(4 Suppl):1604-7.
• 2008
  Ravel C, Chantot-Bastaraud S, El Houate B, Rouba H, Legendre M, Lorenço D, Mandelbaum J, Siffroi JP, McElreavey K, Y-chromosome AZFc structural architecture and relationship to male fertility, Fertil. Steril. 2009 Dec;92(6):1924-33.
• 2008
  El Houate B, Rouba H, Imken L, Sibai H, Chafik A, Boulouiz R, Chadli E, Hassar M, McElreavey K, Barakat A, No association between T222P/LGR8 mutation and cryptorchidism in the Moroccan population, Horm. Res. 2008;70(4):236-9.
• 2008
  McElreavey K, Chantot-Bastaraud S, Ravel C, Mandelbaum J, Siffroi JP, [Y chromosome and male infertility: what is a normal Y chromosome?], J. Soc. Biol. 2008;202(2):135-41.
• 2008
  Mau Kai C, Juul A, McElreavey K, Ottesen AM, Garn ID, Main KM, Loft A, Jørgensen N, Skakkebaek NE, Andersen AN, Rajpert-De Meyts E, Sons conceived by assisted reproduction techniques inherit deletions in the azoospermia factor (AZF) region of the Y chromosome and the DAZ gene copy number, Hum. Reprod. 2008 Jul;23(7):1669-78.
• 2008
  Dumic M, Lin-Su K, Leibel NI, Ciglar S, Vinci G, Lasan R, Nimkarn S, Wilson JD, McElreavey K, New MI, Report of fertility in woman with predominantly 46,XY karyotype in family with multiple disorders of sexual development: review of prismatic case, Mt. Sinai J. Med. 2008 Mar-Apr;75(2):168-9.
• 2008
  Jéru I, Duquesnoy P, Fernandes-Alnemri T, Cochet E, Yu JW, Lackmy-Port-Lis M, Grimprel E, Landman-Parker J, Hentgen V, Marlin S, McElreavey K, Sarkisian T, Grateau G, Alnemri ES, Amselem S, Mutations in NALP12 cause hereditary periodic fever syndromes, Proc. Natl. Acad. Sci. U.S.A. 2008 Feb;105(5):1614-9.
• 2007
  Dumic M, Lin-Su K, Leibel NI, Ciglar S, Vinci G, Lasan R, Nimkarn S, Wilson JD, McElreavey K, New MI, Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development, J. Clin. Endocrinol. Metab. 2008 Jan;93(1):182-9.
• 2007
  Imken L, El Houate B, Chafik A, Nahili H, Boulouiz R, Abidi O, Chadli E, Louanjli N, Elfath A, Hassar M, McElreavey K, Barakat A, Rouba H, AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men, Asian J. Androl. 2007 Sep;9(5):674-8.
• 2007
  Vinci G, Chantot-Bastaraud S, El Houate B, Lortat-Jacob S, Brauner R, McElreavey K, Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder, Mol. Hum. Reprod. 2007 Sep;13(9):685-9.
• 2007
  Beiraghi S, Nath SK, Gaines M, Mandhyan DD, Hutchings D, Ratnamala U, McElreavey K, Bartoloni L, Antonarakis GS, Antonarakis SE, Radhakrishna U, Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1, Am. J. Hum. Genet. 2007 Jul;81(1):180-8.
• 2007
  Ravel C, Chantot-Bastaraud S, El Houate B, Berthaut I, Verstraete L, De Larouziere V, Lourenço D, Dumaine A, Antoine JM, Mandelbaum J, Siffroi JP, McElreavey K, Mutations in the protamine 1 gene associated with male infertility, Mol. Hum. Reprod. 2007 Jul;13(7):461-4.
• 2007
  El Houate B, Rouba H, Sibai H, Barakat A, Chafik A, Chadli el B, Imken L, Bogatcheva NV, Feng S, Agoulnik AI, McElreavey K, Novel mutations involving the INSL3 gene associated with cryptorchidism, J. Urol. 2007 May;177(5):1947-51.
• 2007
  Hubiche T, Ged C, Benard A, Léauté-Labrèze C, McElreavey K, de Verneuil H, Taïeb A, Boralevi F, Analysis of SPINK 5, KLK 7 and FLG genotypes in a French atopic dermatitis cohort, Acta Derm. Venereol. 2007;87(6):499-505.
• 2006
  Chantot-Bastaraud S, Ravel C, Berthaut I, McElreavey K, Bouchard P, Mandelbaum J, Siffroi JP, Sperm-FISH analysis in a pericentric chromosome 1 inversion, 46,XY,inv(1)(p22q42), associated with infertility, Mol. Hum. Reprod. 2007 Jan;13(1):55-9.
• 2006
  Ravel C, Chantot-Bastaraud S, McElreavey K, Siffroi JP, [Molecular anomalies of the Y chromosome: Consequences on male fertility], Gynecol Obstet Fertil 2006 Oct;34(10):885-93.
• 2006
  Ravel C, El Houate B, Chantot S, Lourenço D, Dumaine A, Rouba H, Bandyopadahyay A, Radhakrishna U, Das B, Sengupta S, Mandelbaum J, Siffroi JP, McElreavey K, Haplotypes, mutations and male fertility: the story of the testis-specific ubiquitin protease USP26, Mol. Hum. Reprod. 2006 Oct;12(10):643-6.
• 2006
  Alves BC, Mayer MG, Taber AP, Egito AA, Fagundes V, McElreavey K, Moreira-Filho CA, Molecular characterization of a bovine Y-specific DNA sequence conserved in taurine and zebu breeds, DNA Seq. 2006 Jun;17(3):199-202.
• 2006
  Cheng HH, Ying M, Tian YH, Guo Y, McElreavey K, Zhou RJ, Transcriptional diversity of DMRT1 (dsx- and mab3-related transcription factor 1) in human testis, Cell Res. 2006 Apr;16(4):389-93.
• 2006
  Palmer CN, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, Lee SP, Goudie DR, Sandilands A, Campbell LE, Smith FJ, O'Regan GM, Watson RM, Cecil JE, Bale SJ, Compton JG, DiGiovanna JJ, Fleckman P, Lewis-Jones S, Arseculeratne G, Sergeant A, Munro CS, El Houate B, McElreavey K, Halkjaer LB, Bisgaard H, Mukhopadhyay S, McLean WH, Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis, Nat. Genet. 2006 Apr;38(4):441-6.
• 2006
  McElreavey K, Ravel C, Chantot-Bastaraud S, Siffroi JP, Y chromosome variants and male reproductive function, Int. J. Androl. 2006 Feb;29(1):298-303; discussion 304-6.
• 2006
  Patin E, Barreiro LB, Sabeti PC, Austerlitz F, Luca F, Sajantila A, Behar DM, Semino O, Sakuntabhai A, Guiso N, Gicquel B, McElreavey K, Harding RM, Heyer E, Quintana-Murci L, Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes, Am. J. Hum. Genet. 2006 Mar;78(3):423-36.
• 2006
  Barreiro LB, Neyrolles O, Babb CL, Tailleux L, Quach H, McElreavey K, Helden PD, Hoal EG, Gicquel B, Quintana-Murci L, Promoter variation in the DC-SIGN-encoding gene CD209 is associated with tuberculosis, PLoS Med. 2006 Feb;3(2):e20.
• 2006
  Ravel C, Chantot-Bastaraud S, El Houate B, Mandelbaum J, Siffroi JP, McElreavey K, GR/GR deletions within the azoospermia factor c region on the Y chromosome might not be associated with spermatogenic failure, Fertil. Steril. 2006 Jan;85(1):229-31.
• 2005
  Ergun-Longmire B, Vinci G, Alonso L, Matthew S, Tansil S, Lin-Su K, McElreavey K, New MI, Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature, J. Pediatr. Endocrinol. Metab. 2005 Aug;18(8):739-48.
• 2005
  Meau-Petit V, Marcou V, Trivin C, Lortat-Jacob S, McElreavey K, Brauner R, Idiopathic male pseudohermaphroditism: variations in presentation and management, J. Pediatr. Endocrinol. Metab. 2005 Jun;18(6):569-75.
• 2005
  Patsalis PC, Skordis N, Sismani C, Kousoulidou L, Koumbaris G, Eftychi C, Stavrides G, Ioulianos A, Kitsiou-Tzeli S, Galla-Voumvouraki A, Kosmaidou Z, Hadjiathanasiou CG, McElreavey K, Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability, Am. J. Med. Genet. A 2005 Jun;135(2):145-9.
• 2005
  McElreavey K, Quintana-Murci L, A population genetics perspective of the Indus Valley through uniparentally-inherited markers, Ann. Hum. Biol. 2005 Mar-Apr;32(2):154-62.
• 2005
  Vinci G, Raicu F, Popa L, Popa O, Cocos R, McElreavey K, A deletion of a novel heat shock gene on the Y chromosome associated with azoospermia, Mol. Hum. Reprod. 2005 Apr;11(4):295-8.
• 2005
  Aknin-Seifer IE, Touraine RL, Lejeune H, Jimenez C, Chouteau J, Siffroi JP, McElreavey K, Bienvenu T, Patrat C, Levy R, Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study, Hum. Reprod. 2005 Mar;20(3):736-40.
• 2005
  Quintana-Murci L, Gal I, Bakhan T, Quach H, Sayar SH, Shiri-Sverdlov R, Baruch RG, McElreavey K, Dagan E, Narod S, Friedman E, The Tyr978X BRCA1 mutation: occurrence in non-Jewish Iranians and haplotype in French-Canadian and non-Ashkenazi Jews, Fam. Cancer 2005;4(2):85-8.
• 2005
  McElreavey K, Wang W, Bittles AH, First Asian workshop on genomics and community genetics, Shenzhen, PR China, 10-22 April 2004, Community Genet 2005;8(2):130-2.
• 2004
  Vinci G, Anjot MN, Trivin C, Lottmann H, Brauner R, McElreavey K, An analysis of the genetic factors involved in testicular descent in a cohort of 14 male patients with anorchia, J. Clin. Endocrinol. Metab. 2004 Dec;89(12):6282-5.
• 2004
  Machev N, Saut N, Longepied G, Terriou P, Navarro A, Levy N, Guichaoua M, Metzler-Guillemain C, Collignon P, Frances AM, Belougne J, Clemente E, Chiaroni J, Chevillard C, Durand C, Ducourneau A, Pech N, McElreavey K, Mattei MG, Mitchell MJ, Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility, J. Med. Genet. 2004 Nov;41(11):814-25.
• 2004
  Quintana-Murci L, Chaix R, Wells RS, Behar DM, Sayar H, Scozzari R, Rengo C, Al-Zahery N, Semino O, Santachiara-Benerecetti AS, Coppa A, Ayub Q, Mohyuddin A, Tyler-Smith C, Qasim Mehdi S, Torroni A, McElreavey K, Where west meets east: the complex mtDNA landscape of the southwest and Central Asian corridor, Am. J. Hum. Genet. 2004 May;74(5):827-45.
• 2004
  Quintana-Murci L, Bigham A, Rouba H, Barakat A, McElreavey K, Hammer M, Y-chromosomal STR haplotypes in Berber and Arabic-speaking populations from Morocco, Forensic Sci. Int. 2004 Feb;140(1):113-5.
• 2003
  McElreavey K, Quintana-Murci L, Male reproductive function and the human Y chromosome: is selection acting on the Y?, Reprod. Biomed. Online 2003 Jul-Aug;7(1):17-23.
• 2003
  De La Rochebrochard E, McElreavey K, Thonneau P, Paternal age over 40 years: the “amber light” in the reproductive life of men?, J. Androl. 2003 Jul-Aug;24(4):459-65.
• 2003
  Jawaheer D, Juo SH, Le Caignec C, David A, Petit C, Gregersen P, Dowbak S, Damle A, McElreavey K, Ostrer H, Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis, Clin. Genet. 2003 Jun;63(6):530-5.
• 2003
  Krausz C, Forti G, McElreavey K, The Y chromosome and male fertility and infertility, Int. J. Androl. 2003 Apr;26(2):70-5.
• 2003
  Quintana-Murci L, Weale ME, Thomas MG, Erdei E, Bradman N, Shanks JH, Krausz C, McElreavey K, Y chromosome haplotypes and testicular cancer in the English population, J. Med. Genet. 2003 Mar;40(3):e20.
• 2003
  McElreavey K, Quintana-Murci L, Y chromosome haplogroups: a correlation with testicular dysgenesis syndrome?, APMIS 2003 Jan;111(1):106-13; discussion 114.
• 2003
  Le Caignec C, Baron S, McElreavey K, Joubert M, Rival JM, Mechinaud F, David A, 46,XY gonadal dysgenesis: evidence for autosomal dominant transmission in a large kindred, Am. J. Med. Genet. A 2003 Jan;116A(1):37-43.
• 2002
  Frydelund-Larsen L, Krausz C, Leffers H, Andersson AM, Carlsen E, Bangsboell S, McElreavey K, Skakkebaek NE, Rajpert-De Meyts E, Inhibin B: a marker for the functional state of the seminiferous epithelium in patients with azoospermia factor C microdeletions, J. Clin. Endocrinol. Metab. 2002 Dec;87(12):5618-24.
• 2002
  Patsalis PC, Sismani C, Quintana-Murci L, Taleb-Bekkouche F, Krausz C, McElreavey K, Effects of transmission of Y chromosome AZFc deletions, Lancet 2002 Oct;360(9341):1222-4.
• 2002
  Manni F, Leonardi P, Barakat A, Rouba H, Heyer E, Klintschar M, McElreavey K, Quintana-Murci L, Y-chromosome analysis in Egypt suggests a genetic regional continuity in Northeastern Africa, Hum. Biol. 2002 Oct;74(5):645-58.
• 2002
  Mandon-Pépin B, Derbois C, Matsuda F, Cotinot C, Wolgemuth DJ, Smith K, McElreavey K, Nicolas A, Fellous M, [Human infertility: meiotic genes as potential candidates], Gynecol Obstet Fertil 2002 Oct;30(10):817-21.
• 2002
  Gorlov IP, Kamat A, Bogatcheva NV, Jones E, Lamb DJ, Truong A, Bishop CE, McElreavey K, Agoulnik AI, Mutations of the GREAT gene cause cryptorchidism, Hum. Mol. Genet. 2002 Sep;11(19):2309-18.
• 2002
  Morel F, Duguépéroux I, McElreavey K, Le Bris MJ, Herry A, Parent P, Le Martelot MT, Fellous M, De Braekeleer M, Transmission of an unbalanced (Y;1) translocation in Brittany, France, J. Med. Genet. 2002 Sep;39(9):e52.
• 2002
  Vialard F, Ottolenghi C, Gonzales M, Choiset A, Girard S, Siffroi JP, McElreavey K, Vibert-Guigue C, Sebaoun M, Joyé N, Portnoï MF, Jaubert F, Fellous M, Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses, J. Med. Genet. 2002 Jul;39(7):514-8.
• 2002
  McElreavey K, Krausz C, Patrat C, Fellous M, [Male infertility and microdeletions of the Y chromosome], Gynecol Obstet Fertil 2002 May;30(5):405-12.
• 2002
  Ortenberg J, Oddoux C, Craver R, McElreavey K, Salas-Cortes L, Guillen-Navarro E, Ostrer H, Sarafoglou K, Clarke V, Yee H, SRY gene expression in the ovotestes of XX true hermaphrodites, J. Urol. 2002 Apr;167(4):1828-31.
• 2002
  Ottolenghi C, Fellous M, Barbieri M, McElreavey K, Novel paralogy relations among human chromosomes support a link between the phylogeny of doublesex-related genes and the evolution of sex determination, Genomics 2002 Mar;79(3):333-43.
• 2002
  McElreavey K, Quintana-Murci L, Understanding inherited disease through human migrations: a south-west Asian perspective, Community Genet 2002;5(3):153-6.
• 2002
  Pieri Pde C, Pereira DH, Glina S, Hallak J, McElreavey K, Moreira-Filho CA, A cost-effective screening test for detecting AZF microdeletions on the human Y chromosome, Genet. Test. 2002;6(3):185-94.
• 2002
  McElreavey K, Mitchell MJ, The sexually transmitted genome, Trends Genet. 2002 Jan;18(1):13-4.
• 2001
  Krausz C, Quintana-Murci L, Rajpert-De Meyts E, Jørgensen N, Jobling MA, Rosser ZH, Skakkebaek NE, McElreavey K, Identification of a Y chromosome haplogroup associated with reduced sperm counts, Hum. Mol. Genet. 2001 Sep;10(18):1873-7.
• 2001
  Bienvenu T, Patrat C, McElreavey K, de Almeida M, Jouannet P, Reduction in the DAZ gene copy number in two infertile men with impaired spermatogenesis, Ann. Genet. 2001 Jul-Sep;44(3):125-8.
• 2001
  McElreavey K, Cortes LS, X-Y translocations and sex differentiation, Semin. Reprod. Med. 2001 Jun;19(2):133-9.
• 2001
  Krausz C, Rajpert-De Meyts E, Frydelund-Larsen L, Quintana-Murci L, McElreavey K, Skakkebaek NE, Double-blind Y chromosome microdeletion analysis in men with known sperm parameters and reproductive hormone profiles: microdeletions are specific for spermatogenic failure, J. Clin. Endocrinol. Metab. 2001 Jun;86(6):2638-42.
• 2001
  Ottolenghi C, Moreira-Filho C, Mendonça BB, Barbieri M, Fellous M, Berkovitz GD, McElreavey K, Absence of mutations involving the LIM homeobox domain gene LHX9 in 46,XY gonadal agenesis and dysgenesis, J. Clin. Endocrinol. Metab. 2001 Jun;86(6):2465-9.
• 2001
  Krausz C, McElreavey K, Y chromosome microdeletions in ‘fertile’ males, Hum. Reprod. 2001 Jun;16(6):1306-7.
• 2001
  Quintana-Murci L, Krausz C, McElreavey K, The human Y chromosome: function, evolution and disease, Forensic Sci. Int. 2001 May;118(2-3):169-81.
• 2001
  Nunes M, Blanc I, Maes J, Fellous M, Robert B, McElreavey K, NSPc1, a novel mammalian Polycomb gene, is expressed in neural crest-derived structures of the peripheral nervous system, Mech. Dev. 2001 Apr;102(1-2):219-22.
• 2001
  Quintana-Murci L, Krausz C, Heyer E, Gromoll J, Seifer I, Barton DE, Barrett T, Skakkebaek NE, Rajpert-De Meyts E, Mitchell M, Lee AC, Jobling MA, McElreavey K, The relationship between Y chromosome DNA haplotypes and Y chromosome deletions leading to male infertility, Hum. Genet. 2001 Jan;108(1):55-8.
• 2000
  Quintana-Murci L, Krausz C, Zerjal T, Sayar SH, Hammer MF, Mehdi SQ, Ayub Q, Qamar R, Mohyuddin A, Radhakrishna U, Jobling MA, Tyler-Smith C, McElreavey K, Y-chromosome lineages trace diffusion of people and languages in southwestern Asia, Am. J. Hum. Genet. 2001 Feb;68(2):537-42.
• 2000
  Siffroi JP, Le Bourhis C, Krausz C, Barbaux S, Quintana-Murci L, Kanafani S, Rouba H, Bujan L, Bourrouillou G, Seifer I, Boucher D, Fellous M, McElreavey K, Dadoune JP, Sex chromosome mosaicism in males carrying Y chromosome long arm deletions, Hum. Reprod. 2000 Dec;15(12):2559-62.
• 2000
  Rosser ZH, Zerjal T, Hurles ME, Adojaan M, Alavantic D, Amorim A, Amos W, Armenteros M, Arroyo E, Barbujani G, Beckman G, Beckman L, Bertranpetit J, Bosch E, Bradley DG, Brede G, Cooper G, Côrte-Real HB, de Knijff P, Decorte R, Dubrova YE, Evgrafov O, Gilissen A, Glisic S, Gölge M, Hill EW, Jeziorowska A, Kalaydjieva L, Kayser M, Kivisild T, Kravchenko SA, Krumina A, Kucinskas V, Lavinha J, Livshits LA, Malaspina P, Maria S, McElreavey K, Meitinger TA, Mikelsaar AV, Mitchell RJ, Nafa K, Nicholson J, Nørby S, Pandya A, Parik J, Patsalis PC, Pereira L, Peterlin B, Pielberg G, Prata MJ, Previderé C, Roewer L, Rootsi S, Rubinsztein DC, Saillard J, Santos FR, Stefanescu G, Sykes BC, Tolun A, Villems R, Tyler-Smith C, Jobling MA, Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language, Am. J. Hum. Genet. 2000 Dec;67(6):1526-43.
• 2000
  Ottolenghi C, McElreavey K, Deletions of 9p and the quest for a conserved mechanism of sex determination, Mol. Genet. Metab. 2000 Sep-Oct;71(1-2):397-404.
• 2000
  Le Bourhis C, Siffroi JP, McElreavey K, Dadoune JP, Y chromosome microdeletions and germinal mosaicism in infertile males, Mol. Hum. Reprod. 2000 Aug;6(8):688-93.
• 2000
  Krausz C, Quintana-Murci L, McElreavey K, Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis?, Hum. Reprod. 2000 Jul;15(7):1431-4.
• 2000
  Krausz C, Quintana-Murci L, Fellous M, Siffroi JP, McElreavey K, Absence of mutations involving the INSL3 gene in human idiopathic cryptorchidism, Mol. Hum. Reprod. 2000 Apr;6(4):298-302.
• 2000
  Ottolenghi C, Veitia R, Barbieri M, Fellous M, McElreavey K, The human doublesex-related gene, DMRT2, is homologous to a gene involved in somitogenesis and encodes a potential bicistronic transcript, Genomics 2000 Mar;64(2):179-86.
• 2000
  Ottolenghi C, Veitia R, Quintana-Murci L, Torchard D, Scapoli L, Souleyreau-Therville N, Beckmann J, Fellous M, McElreavey K, The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domain, Genomics 2000 Mar;64(2):170-8.
• 2000
  Hanley NA, Hagan DM, Clement-Jones M, Ball SG, Strachan T, Salas-Cortés L, McElreavey K, Lindsay S, Robson S, Bullen P, Ostrer H, Wilson DI, SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development, Mech. Dev. 2000 Mar;91(1-2):403-7.
• 2000
  McElreavey K, Krausz C, Bishop CE, The human Y chromosome and male infertility, Results Probl Cell Differ 2000;28:211-32.
• 1999
  McElreavey K, Fellous M, Sex determination and the Y chromosome, Am. J. Med. Genet. 1999 Dec;89(4):176-85.
• 1999
  Quintana-Murci L, Semino O, Bandelt HJ, Passarino G, McElreavey K, Santachiara-Benerecetti AS, Genetic evidence of an early exit of Homo sapiens sapiens from Africa through eastern Africa, Nat. Genet. 1999 Dec;23(4):437-41.
• 1999
  Damiani D, Guedes DR, Fellous M, Barbaux S, McElreavey K, Kalil J, Goldberg AC, Moreira-Filho CA, Barbosa A, Della Manna T, Dichtchekenian V, Setian N, Ullrich-Turner syndrome: relevance of searching for Y chromosome fragments, J. Pediatr. Endocrinol. Metab. 1999 Nov-Dec;12(6):827-31.
• 1999
  Hurles ME, Veitia R, Arroyo E, Armenteros M, Bertranpetit J, Pérez-Lezaun A, Bosch E, Shlumukova M, Cambon-Thomsen A, McElreavey K, López De Munain A, Röhl A, Wilson IJ, Singh L, Pandya A, Santos FR, Tyler-Smith C, Jobling MA, Recent male-mediated gene flow over a linguistic barrier in Iberia, suggested by analysis of a Y-chromosomal DNA polymorphism, Am. J. Hum. Genet. 1999 Nov;65(5):1437-48.
• 1999
  Krausz C, Quintana-Murci L, Barbaux S, Siffroi JP, Rouba H, Delafontaine D, Souleyreau-Therville N, Arvis G, Antoine JM, Erdei E, Taar JP, Tar A, Jeandidier E, Plessis G, Bourgeron T, Dadoune JP, Fellous M, McElreavey K, A high frequency of Y chromosome deletions in males with nonidiopathic infertility, J. Clin. Endocrinol. Metab. 1999 Oct;84(10):3606-12.
• 1999
  Demmer L, Primack W, Loik V, Brown R, Therville N, McElreavey K, Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female, J. Am. Soc. Nephrol. 1999 Oct;10(10):2215-8.
• 1999
  Krausz C, Bussani-Mastellone C, Granchi S, McElreavey K, Scarselli G, Forti G, Screening for microdeletions of Y chromosome genes in patients undergoing intracytoplasmic sperm injection, Hum. Reprod. 1999 Jul;14(7):1717-21.
• 1999
  Krausz C, Siffroi J, Souleyreau-Therville N, Bourgeron T, McElreavey K, Fellous M, [Genetic control of spermatogenesis: Y chromosome and male infertility], Ann. Biol. Clin. (Paris) 1999 May;57(3):309-17.
• 1999
  McElreavey K, Krausz C, Sex Chromosome Genetics ’99. Male infertility and the Y chromosome, Am. J. Hum. Genet. 1999 Apr;64(4):928-33.
• 1999
  Salas-Cortés L, Jaubert F, Barbaux S, Nessmann C, Bono MR, Fellous M, McElreavey K, Rosemblatt M, The human SRY protein is present in fetal and adult Sertoli cells and germ cells, Int. J. Dev. Biol. 1999 Mar;43(2):135-40.
• 1999
  Krausz C, McElreavey K, Y chromosome and male infertility, Front. Biosci. 1999 Jan;4:E1-8.
• 1998
  Veitia RA, Nunes M, Quintana-Murci L, Rappaport R, Thibaud E, Jaubert F, Fellous M, McElreavey K, Gonçalves J, Silva M, Rodrigues JC, Caspurro M, Boieiro F, Marques R, Lavinha J, Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome, Am. J. Hum. Genet. 1998 Sep;63(3):901-5.
• 1998
  Agulnik AI, Zharkikh A, Boettger-Tong H, Bourgeron T, McElreavey K, Bishop CE, Evolution of the DAZ gene family suggests that Y-linked DAZ plays little, or a limited, role in spermatogenesis but underlines a recent African origin for human populations, Hum. Mol. Genet. 1998 Sep;7(9):1371-7.
• 1998
  Ion R, Telvi L, Chaussain JL, Barbet JP, Nunes M, Safar A, Réthoré MO, Fellous M, McElreavey K, Failure of testicular development associated with a rearrangement of 9p24.1 proximal to the SNF2 gene, Hum. Genet. 1998 Feb;102(2):151-6.
• 1998
  Veitia R, Laurent A, Quintana-Murci L, Ottolenghi C, Fellous M, Vidaud M, McElreavey K, The INSL4 gene maps close to WI-5527 at 9p24.1–>p23.3 clustered with two relaxin genes and outside the critical region for the monosomy 9p syndrome, Cytogenet. Cell Genet. 1998;81(3-4):275-7.
• 1997
  Barbaux S, Niaudet P, Gubler MC, Grünfeld JP, Jaubert F, Kuttenn F, Fékété CN, Souleyreau-Therville N, Thibaud E, Fellous M, McElreavey K, Donor splice-site mutations in WT1 are responsible for Frasier syndrome, Nat. Genet. 1997 Dec;17(4):467-70.
• 1997
  McElreavey K, Fellous M, Sex-determining genes, Trends Endocrinol. Metab. 1997 Nov;8(9):342-6.
• 1997
  Veitia RA, Fellous M, McElreavey K, Conservation of Y chromosome-specific sequences immediately 5′ to the testis determining gene in primates, Gene 1997 Oct;199(1-2):63-70.
• 1997
  Bourgeron T, Barbaux S, McElreavey K, Fellous M, [Y chromosome and spermatogenesis], Contracept Fertil Sex 1997 Jul-Aug;25(7-8):620-5.
• 1997
  Veitia R, Ion A, Barbaux S, Jobling MA, Souleyreau N, Ennis K, Ostrer H, Tosi M, Meo T, Chibani J, Fellous M, McElreavey K, Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype, Hum. Genet. 1997 May;99(5):648-52.
• 1997
  Veitia R, Nunes M, Brauner R, Doco-Fenzy M, Joanny-Flinois O, Jaubert F, Lortat-Jacob S, Fellous M, McElreavey K, Deletions of distal 9p associated with 46,XY male to female sex reversal: definition of the breakpoints at 9p23.3-p24.1, Genomics 1997 Apr;41(2):271-4.
• 1997
  Seboun E, Barbaux S, Bourgeron T, Nishi S, Agulnik A, Egashira M, Nikkawa N, Bishop C, Fellous M, McElreavey K, Kasahara M, Algonik A, Gene sequence, localization, and evolutionary conservation of DAZLA, a candidate male sterility gene, Genomics 1997 Apr;41(2):227-35.
• 1997
  Damiani D, Fellous M, McElreavey K, Barbaux S, Barreto ES, Dichtchekenian V, Setian N, True hermaphroditism: clinical aspects and molecular studies in 16 cases, Eur. J. Endocrinol. 1997 Feb;136(2):201-4.
• 1997
  Tar A, Ion A, Sólyom J, Györvári B, Stephenson C, Barbaux S, Nunes M, Fellous M, McElreavey K, Hypertelorism and hypospadias associated with a de novo apparently balanced translocation between 8q22.3-23 and 20p13, Am. J. Med. Genet. 1997 Jan;68(2):231-5.
• 1997
  Veitia R, Nunes M, McElreavey K, Fellous M, [Sex determination and differentiation in man: from pathology to genes], Arch Pediatr 1997;4(2 Suppl 2):118s-120s.
• 1996
  Telvi L, Ion A, Carel JC, Desguerre I, Piraud M, Boutin AM, Feingold J, Ponsot G, Fellous M, McElreavey K, A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities, J. Med. Genet. 1996 Sep;33(9):767-71.
• 1996
  McElreavey K, Vilain E, Barbaux S, Fuqua JS, Fechner PY, Souleyreau N, Doco-Fenzy M, Gabriel R, Quereux C, Fellous M, Berkovitz GD, Loss of sequences 3′ to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination, Proc. Natl. Acad. Sci. U.S.A. 1996 Aug;93(16):8590-4.
• 1996
  Ion A, Telvi L, Chaussain JL, Galacteros F, Valayer J, Fellous M, McElreavey K, A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome, Am. J. Hum. Genet. 1996 Jun;58(6):1185-91.
• 1996
  Tar A, Rácz K, Dobos M, Barbaux S, McElreavey K, Fellous M, [46,XX karyotype males, based on a specific case], Orv Hetil 1996 May;137(20):1085-7.
• 1996
  Kucheria K, Mohapatra I, Ammini AC, Bhargava VL, McElreavey K, Clinical and DNA studies on 46, XY females with gonadal dysgenesis. A report of six cases, J Reprod Med 1996 Apr;41(4):263-6.
• 1995
  McElreavey K, Barbaux S, Ion A, Fellous M, The genetic basis of murine and human sex determination: a review, Heredity (Edinb) 1995 Dec;75 ( Pt 6):599-611.
• 1995
  Tar A, Sólyom J, Györvári B, Ion A, Telvi L, Barbaux S, Souleyreau N, Vilain E, Fellous M, McElreavey K, Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion, Hum. Genet. 1995 Oct;96(4):464-8.
• 1995
  Barbaux S, Vilain E, Raoul O, Gilgenkrantz S, Jeandidier E, Chadenas D, Souleyreau N, Fellous M, McElreavey K, Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata, Hum. Mol. Genet. 1995 Sep;4(9):1565-8.
• 1994
  Mendonça BB, Barbosa AS, Arnhold IJ, McElreavey K, Fellous M, Moreira-Filho CA, Gonadal agenesis in XX and XY sisters: evidence for the involvement of an autosomal gene, Am. J. Med. Genet. 1994 Aug;52(1):39-43.
• 1994
  Boucekkine C, Toublanc JE, Abbas N, Chaabouni S, Ouahid S, Semrouni M, Jaubert F, Toublanc M, McElreavey K, Vilain E, Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences, Clin. Endocrinol. (Oxf) 1994 Jun;40(6):733-42.
• 1994
  Vilain E, Le Fiblec B, Morichon-Delvallez N, Brauner R, Dommergues M, Dumez Y, Jaubert F, Boucekkine C, McElreavey K, Vekemans M, SRY-negative XX fetus with complete male phenotype, Lancet 1994 Jan;343(8891):240-1.
• 1994
  Boucekkine C, Vilain E, McElreavey K, Jaubert F, Brauner R, Thibaud E, Battin J, Toublanc JE, Kucheria K, Chaabouni S, [Study of sex determination gene (SRY) in 46,XY gonadal dysgenesis], Ann. Endocrinol. (Paris) 1994;54(5):315-21.
• 1993
  McElreavey K, Vilain E, Cotinot C, Payen E, Fellous M, Control of sex determination in animals, Eur. J. Biochem. 1993 Dec;218(3):769-83.
• 1993
  McElreavey K, Vilain E, Abbas N, Herskowitz I, Fellous M, A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development, Proc. Natl. Acad. Sci. U.S.A. 1993 Apr;90(8):3368-72.
• 1993
  Vilain E, Jaubert F, Fellous M, McElreavey K, Pathology of 46,XY pure gonadal dysgenesis: absence of testis differentiation associated with mutations in the testis-determining factor, Differentiation 1993 Jan;52(2):151-9.
• 1993
  Abbas N, McElreavey K, Leconiat M, Vilain E, Jaubert F, Berger R, Nihoul-Fekete C, Rappaport R, Fellous M, Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRY-bearing X chromosome, C. R. Acad. Sci. III, Sci. Vie 1993;316(4):375-83.
• 1993
  Toublanc JE, Boucekkine C, Abbas N, Barama D, Vilain E, McElreavey K, Toublanc M, Fellous M, Hormonal and molecular genetic findings in 46,XX subjects with sexual ambiguity and testicular differentiation, Eur. J. Pediatr. 1993;152 Suppl 2:S70-5.
• 1992
  McElreavey K, Rappaport R, Vilain E, Abbas N, Richaud F, Lortat-Jacob S, Berger R, Le Coniat M, Boucekkine C, Kucheria K, A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY, Hum. Genet. 1992 Sep-Oct;90(1-2):121-5.
• 1992
  McElreavey KD, Vilain E, Boucekkine C, Vidaud M, Jaubert F, Richaud F, Fellous M, XY sex reversal associated with a nonsense mutation in SRY, Genomics 1992 Jul;13(3):838-40.
• 1992
  Vilain E, McElreavey K, Jaubert F, Raymond JP, Richaud F, Fellous M, Familial case with sequence variant in the testis-determining region associated with two sex phenotypes, Am. J. Hum. Genet. 1992 May;50(5):1008-11.
• 1992
  Vilain E, McElreavey K, Richaud F, Fellous M, [Isolation of the sex-determining gene in men], Pathol. Biol. 1992 Jan;40(1):15-7.
• 1992
  Boucekkine C, Toublanc JE, Abbas N, Semrouni M, Vilain E, McElreavey K, Mugneret F, Fellous M, The sole presence of the testis-determining region of the Y chromosome (SRY) in 46,XX patients is associated with phenotypic variability, Horm. Res. 1992;37(6):236-40.
• 1991
  McElreavey KD, Irvine AI, Ennis KT, McLean WH, Isolation, culture and characterisation of fibroblast-like cells derived from the Wharton’s jelly portion of human umbilical cord, Biochem. Soc. Trans. 1991 Feb;19(1):29S.
• 1991
  Vilain E, McElreavey K, Vidaud M, Richaud F, Fellous M, [The analysis of SRY doesn’t explain all the pathology of sex determination], Ann. Endocrinol. (Paris) 1991;52(6):435-6.