Ligne de temps
Kenneth McElreavey
Responsable de Structure
30 mars 2024
27 févr. 2023
publication
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.
Lire plus20 janv. 2023
news
New publication – In vitro cellular reprogramming to model gonad development and its disorders
Lire plus11 janv. 2023
publication
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.
Lire plus04 janv. 2023
01 janv. 2023
27 sept. 2022
publication
Novel homozygous inactivating mutation in the luteinizing hormone receptor gene (LHCGR) associated with 46, XY DSD in a Moroccan family.
Lire plus01 janv. 2022
publication
Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings.
Lire plus01 janv. 2022
01 janv. 2022
01 janv. 2022
publication
Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort.
Lire plus01 janv. 2022
01 sept. 2021
publication
Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case.
Lire plus01 sept. 2021
publication
Can leukocytospermia predict prostate cancer via its effects on mitochondrial DNA?
Lire plus01 juin 2021
publication
Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development.
Lire plus10 mars 2021
publication
Atypical Clinical Presentation of Persistent Müllerian Duct Syndrome in Siblings.
Lire plus01 janv. 2021
publication
Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.
Lire plus01 janv. 2021
publication
Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37.
Lire plus01 janv. 2021
publication
Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism.
Lire plus16 juin 2020
publication
Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene.
Lire plus12 sept. 2019
12 sept. 2019
24 juil. 2019
publication
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome
Lire plus06 mai 2019
publication
The TALE homeodomain of PBX1 is involved in human primary testis-determination
Lire plus01 oct. 2018
publication
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’
Lire plus22 août 2018
publication
Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer
Lire plus07 mai 2018
publication
ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling
Lire plus01 avr. 2018
publication
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies
Lire plus22 févr. 2018
publication
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.
Lire plus21 déc. 2017
publication
A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD
Lire plus01 juil. 2017
01 févr. 2017
publication
Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development
Lire plus01 déc. 2016
publication
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development
Lire plus03 nov. 2015
publication
A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome
Lire plus20 oct. 2015
07 juin 2015
project
Identification of key components of the human sex-determination pathway. The DSD exome/genome project.
Lire plus07 juin 2015
25 mai 2015
11 mai 2015
21 avr. 2015
publication
Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of sex development (DSD)
Lire plus23 mars 2015
publication
Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis
Lire plus06 mars 2015
publication
Sperm global DNA methylation level: association with semen parameters and genome integrity
Lire plus27 nov. 2014
publication
Etiology of primary ovarian insufficiency in a series young girls presenting at a pediatric endocrinology center
Lire plus12 nov. 2014
publication
Gene dosage effects in 46, XY DSD: usefulness of CGH technologies for diagnosis
Lire plus26 oct. 2014
publication
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
Lire plus09 sept. 2014
29 juil. 2014
29 juil. 2014
25 juil. 2014
publication
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
Lire plus13 juin 2014
publication
Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness
Lire plus18 févr. 2014
publication
Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination
Lire plus30 janv. 2014
publication
Prevalence of the Aurora kinase C c.144delC mutation in infertile Moroccan men
Lire plus24 oct. 2013
publication
Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys
Lire plus02 août 2013
publication
Methylation changes in mature sperm deoxyribonucleic acid from oligozoospermic men: assessment of genetic variants and assisted reproductive technology outcome
Lire plus08 mai 2013
30 avr. 2013
publication
Minor hypospadias: the “tip of the iceberg” of the partial androgen insensitivity syndrome
Lire plus25 mars 2013
16 mars 2013
publication
First study of microdeletions in the Y chromosome of Algerian infertile men with idiopathic oligo- or azoospermia
Lire plus15 nov. 2012
03 oct. 2012
27 juin 2012
publication
Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutations
Lire plus25 juin 2012
publication
Partial microdeletions in the Y-chromosome AZFc region are not a significant risk factor for spermatogenic impairment in Tunisian infertile men
Lire plus13 avr. 2012
01 avr. 2012
publication
Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele
Lire plus23 mars 2012
publication
Association of the MTHFR A1298C variant with unexplained severe male infertility
Lire plus08 janv. 2012
01 janv. 2012
publication
Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD
Lire plus20 oct. 2011
publication
Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias
Lire plus10 août 2011
27 mars 2011
publication
Semen quality analysis of military personnel from six geographical areas of the People’s Republic of China
Lire plus01 févr. 2011
publication
Polymorphisms in MTHFR and MTRR genes associated with blood plasma homocysteine concentration and sperm counts
Lire plus10 janv. 2011
publication
Loss-of-function mutation in GATA4 causes anomalies of human testicular development
Lire plus01 janv. 2011
publication
Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development
Lire plus01 janv. 2011
01 oct. 2010
publication
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1
Lire plus03 juil. 2010
publication
New technologies for the identification of novel genetic markers of disorders of sex development (DSD)
Lire plus25 juin 2010
publication
Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls
Lire plus14 avr. 2010
01 oct. 2009
06 août 2009
publication
Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts
Lire plus01 août 2009
publication
Novel human pathological mutations. Gene symbol: SRY. Disease: XY sex reversal
Lire plus14 juil. 2009
21 mai 2009
publication
Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility
Lire plus25 févr. 2009
25 janv. 2009
publication
Mutational analysis of the WNT gene family in women with Mayer-Rokitansky-Kuster-Hauser syndrome
Lire plus06 nov. 2008
05 sept. 2008
publication
No association between T222P/LGR8 mutation and cryptorchidism in the Moroccan population
Lire plus13 juin 2008
25 avr. 2008
publication
Sons conceived by assisted reproduction techniques inherit deletions in the azoospermia factor (AZF) region of the Y chromosome and the DAZ gene copy number
Lire plus01 mars 2008
publication
Report of fertility in woman with predominantly 46,XY karyotype in family with multiple disorders of sexual development: review of prismatic case
Lire plus29 janv. 2008
13 nov. 2007
publication
Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development
Lire plus01 sept. 2007
publication
AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men
Lire plus20 juil. 2007
publication
Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder
Lire plus18 mai 2007
publication
Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1
Lire plus09 mai 2007
01 mai 2007
01 janv. 2007
publication
Analysis of SPINK 5, KLK 7 and FLG genotypes in a French atopic dermatitis cohort
Lire plus31 oct. 2006
publication
Sperm-FISH analysis in a pericentric chromosome 1 inversion, 46,XY,inv(1)(p22q42), associated with infertility
Lire plus18 sept. 2006
03 août 2006
publication
Haplotypes, mutations and male fertility: the story of the testis-specific ubiquitin protease USP26
Lire plus01 juin 2006
publication
Molecular characterization of a bovine Y-specific DNA sequence conserved in taurine and zebu breeds
Lire plus01 avr. 2006
publication
Transcriptional diversity of DMRT1 (dsx- and mab3-related transcription factor 1) in human testis
Lire plus19 mars 2006
publication
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis
Lire plus01 févr. 2006
13 janv. 2006
publication
Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes
Lire plus03 janv. 2006
publication
Promoter variation in the DC-SIGN-encoding gene CD209 is associated with tuberculosis
Lire plus01 janv. 2006
publication
GR/GR deletions within the azoospermia factor c region on the Y chromosome might not be associated with spermatogenic failure
Lire plus01 août 2005
publication
Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature
Lire plus01 juin 2005
publication
Idiopathic male pseudohermaphroditism: variations in presentation and management
Lire plus01 juin 2005
publication
Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability
Lire plus01 mars 2005
publication
A population genetics perspective of the Indus Valley through uniparentally-inherited markers
Lire plus25 févr. 2005
publication
A deletion of a novel heat shock gene on the Y chromosome associated with azoospermia
Lire plus13 janv. 2005
publication
Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study
Lire plus01 janv. 2005
publication
The Tyr978X BRCA1 mutation: occurrence in non-Jewish Iranians and haplotype in French-Canadian and non-Ashkenazi Jews
Lire plus01 janv. 2005
publication
First Asian workshop on genomics and community genetics, Shenzhen, PR China, 10-22 April 2004
Lire plus01 déc. 2004
publication
An analysis of the genetic factors involved in testicular descent in a cohort of 14 male patients with anorchia
Lire plus01 nov. 2004
publication
Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility
Lire plus07 avr. 2004
publication
Where west meets east: the complex mtDNA landscape of the southwest and Central Asian corridor
Lire plus10 févr. 2004
publication
Y-chromosomal STR haplotypes in Berber and Arabic-speaking populations from Morocco
Lire plus01 juil. 2003
publication
Male reproductive function and the human Y chromosome: is selection acting on the Y?
Lire plus01 juil. 2003
publication
Paternal age over 40 years: the “amber light” in the reproductive life of men?
Lire plus01 juin 2003
01 avr. 2003
01 mars 2003
01 janv. 2003
publication
46,XY gonadal dysgenesis: evidence for autosomal dominant transmission in a large kindred
Lire plus01 janv. 2003
01 déc. 2002
publication
Inhibin B: a marker for the functional state of the seminiferous epithelium in patients with azoospermia factor C microdeletions
Lire plus19 oct. 2002
01 oct. 2002
publication
Y-chromosome analysis in Egypt suggests a genetic regional continuity in Northeastern Africa
Lire plus01 oct. 2002
15 sept. 2002
01 sept. 2002
01 juil. 2002
publication
Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses
Lire plus01 mai 2002
01 avr. 2002
01 mars 2002
publication
Novel paralogy relations among human chromosomes support a link between the phylogeny of doublesex-related genes and the evolution of sex determination
Lire plus01 janv. 2002
publication
A cost-effective screening test for detecting AZF microdeletions on the human Y chromosome
Lire plus01 janv. 2002
publication
Understanding inherited disease through human migrations: a south-west Asian perspective
Lire plus01 janv. 2002
01 sept. 2001
publication
Identification of a Y chromosome haplogroup associated with reduced sperm counts
Lire plus01 juil. 2001
publication
Reduction in the DAZ gene copy number in two infertile men with impaired spermatogenesis
Lire plus01 juin 2001
01 juin 2001
publication
Double-blind Y chromosome microdeletion analysis in men with known sperm parameters and reproductive hormone profiles: microdeletions are specific for spermatogenic failure
Lire plus01 juin 2001
publication
Absence of mutations involving the LIM homeobox domain gene LHX9 in 46,XY gonadal agenesis and dysgenesis
Lire plus01 juin 2001
15 mai 2001
01 avr. 2001
publication
NSPc1, a novel mammalian Polycomb gene, is expressed in neural crest-derived structures of the peripheral nervous system
Lire plus01 janv. 2001
publication
The relationship between Y chromosome DNA haplotypes and Y chromosome deletions leading to male infertility
Lire plus27 déc. 2000
publication
Y-chromosome lineages trace diffusion of people and languages in southwestern Asia
Lire plus01 déc. 2000
09 nov. 2000
publication
Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language
Lire plus01 sept. 2000
01 août 2000
01 juil. 2000
publication
Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis?
Lire plus01 avr. 2000
publication
Absence of mutations involving the INSL3 gene in human idiopathic cryptorchidism
Lire plus01 mars 2000
publication
SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development
Lire plus01 mars 2000
publication
The human doublesex-related gene, DMRT2, is homologous to a gene involved in somitogenesis and encodes a potential bicistronic transcript
Lire plus01 mars 2000
publication
The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domain
Lire plus01 janv. 2000
29 déc. 1999
01 déc. 1999
publication
Genetic evidence of an early exit of Homo sapiens sapiens from Africa through eastern Africa
Lire plus01 nov. 1999
01 nov. 1999
publication
Recent male-mediated gene flow over a linguistic barrier in Iberia, suggested by analysis of a Y-chromosomal DNA polymorphism
Lire plus01 oct. 1999
publication
A high frequency of Y chromosome deletions in males with nonidiopathic infertility
Lire plus01 oct. 1999
publication
Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female
Lire plus01 juil. 1999
publication
Screening for microdeletions of Y chromosome genes in patients undergoing intracytoplasmic sperm injection
Lire plus01 mai 1999
01 avr. 1999
01 mars 1999
publication
The human SRY protein is present in fetal and adult Sertoli cells and germ cells
Lire plus15 janv. 1999
01 sept. 1998
publication
Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome
Lire plus01 sept. 1998
publication
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
Lire plus01 févr. 1998
publication
Failure of testicular development associated with a rearrangement of 9p24.1 proximal to the SNF2 gene
Lire plus01 janv. 1998
publication
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
Lire plus01 déc. 1997
01 nov. 1997
15 oct. 1997
publication
Conservation of Y chromosome-specific sequences immediately 5′ to the testis determining gene in primates
Lire plus01 juil. 1997
01 mai 1997
publication
Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype
Lire plus15 avr. 1997
publication
Deletions of distal 9p associated with 46,XY male to female sex reversal: definition of the breakpoints at 9p23.3-p24.1
Lire plus15 avr. 1997
publication
Gene sequence, localization, and evolutionary conservation of DAZLA, a candidate male sterility gene
Lire plus01 févr. 1997
20 janv. 1997
publication
Hypertelorism and hypospadias associated with a de novo apparently balanced translocation between 8q22.3-23 and 20p13
Lire plus01 janv. 1997
01 sept. 1996
publication
A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities
Lire plus01 août 1996
publication
Loss of sequences 3′ to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination
Lire plus01 juin 1996
publication
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
Lire plus19 mai 1996
01 avr. 1996
publication
Clinical and DNA studies on 46, XY females with gonadal dysgenesis. A report of six cases
Lire plus01 déc. 1995
01 oct. 1995
publication
Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion
Lire plus01 sept. 1995
publication
Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata
Lire plus01 août 1994
publication
Gonadal agenesis in XX and XY sisters: evidence for the involvement of an autosomal gene
Lire plus01 juin 1994
publication
Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences
Lire plus22 janv. 1994
01 janv. 1994
15 déc. 1993
15 avr. 1993
publication
A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development
Lire plus01 janv. 1993
publication
Pathology of 46,XY pure gonadal dysgenesis: absence of testis differentiation associated with mutations in the testis-determining factor
Lire plus01 janv. 1993
publication
Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRY-bearing X chromosome
Lire plus01 janv. 1993
publication
Hormonal and molecular genetic findings in 46,XX subjects with sexual ambiguity and testicular differentiation
Lire plus01 sept. 1992
publication
A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY
Lire plus01 juil. 1992
01 mai 1992
publication
Familial case with sequence variant in the testis-determining region associated with two sex phenotypes
Lire plus01 janv. 1992
01 janv. 1992
publication
The sole presence of the testis-determining region of the Y chromosome (SRY) in 46,XX patients is associated with phenotypic variability
Lire plus01 févr. 1991
publication
Isolation, culture and characterisation of fibroblast-like cells derived from the Wharton’s jelly portion of human umbilical cord
Lire plus01 janv. 1991