Timeline
Kenneth McElreavey
Head of Structure
30 Mar 2024
27 Feb 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.
Read more20 Jan 2023
news
New publication – In vitro cellular reprogramming to model gonad development and its disorders
Read more11 Jan 2023
publication
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.
Read more04 Jan 2023
01 Jan 2023
27 Sep 2022
publication
Novel homozygous inactivating mutation in the luteinizing hormone receptor gene (LHCGR) associated with 46, XY DSD in a Moroccan family.
Read more01 Jan 2022
01 Jan 2022
publication
Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings.
Read more01 Jan 2022
01 Jan 2022
01 Jan 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.
Read more01 Sep 2021
publication
Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case.
Read more01 Sep 2021
publication
Can leukocytospermia predict prostate cancer via its effects on mitochondrial DNA?
Read more01 Jun 2021
publication
Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development.
Read more10 Mar 2021
publication
Atypical Clinical Presentation of Persistent Müllerian Duct Syndrome in Siblings.
Read more01 Jan 2021
publication
Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.
Read more01 Jan 2021
publication
Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37.
Read more01 Jan 2021
publication
Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism.
Read more16 Jun 2020
publication
Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene.
Read more12 Sep 2019
12 Sep 2019
24 Jul 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
Read more06 May 2019
publication
The TALE homeodomain of PBX1 is involved in human primary testis-determination
Read more01 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’
Read more22 Aug 2018
publication
Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer
Read more07 May 2018
publication
ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling
Read more01 Apr 2018
publication
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies
Read more21 Dec 2017
publication
A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD
Read more01 Jul 2017
01 Feb 2017
publication
Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development
Read more01 Dec 2016
publication
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development
Read more03 Nov 2015
publication
A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome
Read more20 Oct 2015
07 Jun 2015
project
Identification of key components of the human sex-determination pathway. The DSD genome project.
Read more07 Jun 2015
25 May 2015
11 May 2015
21 Apr 2015
publication
Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of sex development (DSD)
Read more23 Mar 2015
publication
Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis
Read more06 Mar 2015
publication
Sperm global DNA methylation level: association with semen parameters and genome integrity
Read more27 Nov 2014
publication
Etiology of primary ovarian insufficiency in a series young girls presenting at a pediatric endocrinology center
Read more12 Nov 2014
publication
Gene dosage effects in 46, XY DSD: usefulness of CGH technologies for diagnosis
Read more26 Oct 2014
publication
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
Read more09 Sep 2014
29 Jul 2014
29 Jul 2014
25 Jul 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
Read more13 Jun 2014
publication
Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness
Read more18 Feb 2014
publication
Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination
Read more30 Jan 2014
publication
Prevalence of the Aurora kinase C c.144delC mutation in infertile Moroccan men
Read more24 Oct 2013
publication
Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys
Read more02 Aug 2013
publication
Methylation changes in mature sperm deoxyribonucleic acid from oligozoospermic men: assessment of genetic variants and assisted reproductive technology outcome
Read more08 May 2013
30 Apr 2013
publication
Minor hypospadias: the “tip of the iceberg” of the partial androgen insensitivity syndrome
Read more25 Mar 2013
16 Mar 2013
publication
First study of microdeletions in the Y chromosome of Algerian infertile men with idiopathic oligo- or azoospermia
Read more15 Nov 2012
03 Oct 2012
27 Jun 2012
publication
Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutations
Read more25 Jun 2012
publication
Partial microdeletions in the Y-chromosome AZFc region are not a significant risk factor for spermatogenic impairment in Tunisian infertile men
Read more13 Apr 2012
01 Apr 2012
publication
Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele
Read more23 Mar 2012
publication
Association of the MTHFR A1298C variant with unexplained severe male infertility
Read more08 Jan 2012
01 Jan 2012
publication
Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD
Read more20 Oct 2011
publication
Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias
Read more10 Aug 2011
27 Mar 2011
publication
Semen quality analysis of military personnel from six geographical areas of the People’s Republic of China
Read more01 Feb 2011
publication
Polymorphisms in MTHFR and MTRR genes associated with blood plasma homocysteine concentration and sperm counts
Read more10 Jan 2011
publication
Loss-of-function mutation in GATA4 causes anomalies of human testicular development
Read more01 Jan 2011
publication
Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development
Read more01 Jan 2011
01 Oct 2010
publication
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1
Read more03 Jul 2010
publication
New technologies for the identification of novel genetic markers of disorders of sex development (DSD)
Read more25 Jun 2010
publication
Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls
Read more14 Apr 2010
01 Oct 2009
06 Aug 2009
publication
Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts
Read more01 Aug 2009
publication
Novel human pathological mutations. Gene symbol: SRY. Disease: XY sex reversal
Read more14 Jul 2009
21 May 2009
publication
Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility
Read more25 Feb 2009
25 Jan 2009
publication
Mutational analysis of the WNT gene family in women with Mayer-Rokitansky-Kuster-Hauser syndrome
Read more06 Nov 2008
05 Sep 2008
publication
No association between T222P/LGR8 mutation and cryptorchidism in the Moroccan population
Read more13 Jun 2008
25 Apr 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
Read more01 Mar 2008
publication
Report of fertility in woman with predominantly 46,XY karyotype in family with multiple disorders of sexual development: review of prismatic case
Read more29 Jan 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
Read more01 Sep 2007
publication
AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men
Read more20 Jul 2007
publication
Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder
Read more18 May 2007
publication
Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1
Read more09 May 2007
01 May 2007
01 Jan 2007
publication
Analysis of SPINK 5, KLK 7 and FLG genotypes in a French atopic dermatitis cohort
Read more31 Oct 2006
publication
Sperm-FISH analysis in a pericentric chromosome 1 inversion, 46,XY,inv(1)(p22q42), associated with infertility
Read more18 Sep 2006
03 Aug 2006
publication
Haplotypes, mutations and male fertility: the story of the testis-specific ubiquitin protease USP26
Read more01 Jun 2006
publication
Molecular characterization of a bovine Y-specific DNA sequence conserved in taurine and zebu breeds
Read more01 Apr 2006
publication
Transcriptional diversity of DMRT1 (dsx- and mab3-related transcription factor 1) in human testis
Read more19 Mar 2006
publication
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis
Read more01 Feb 2006
13 Jan 2006
publication
Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes
Read more03 Jan 2006
publication
Promoter variation in the DC-SIGN-encoding gene CD209 is associated with tuberculosis
Read more01 Jan 2006
publication
GR/GR deletions within the azoospermia factor c region on the Y chromosome might not be associated with spermatogenic failure
Read more01 Aug 2005
publication
Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature
Read more01 Jun 2005
publication
Idiopathic male pseudohermaphroditism: variations in presentation and management
Read more01 Jun 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
Read more01 Mar 2005
publication
A population genetics perspective of the Indus Valley through uniparentally-inherited markers
Read more25 Feb 2005
publication
A deletion of a novel heat shock gene on the Y chromosome associated with azoospermia
Read more13 Jan 2005
publication
Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study
Read more01 Jan 2005
publication
The Tyr978X BRCA1 mutation: occurrence in non-Jewish Iranians and haplotype in French-Canadian and non-Ashkenazi Jews
Read more01 Jan 2005
publication
First Asian workshop on genomics and community genetics, Shenzhen, PR China, 10-22 April 2004
Read more01 Dec 2004
publication
An analysis of the genetic factors involved in testicular descent in a cohort of 14 male patients with anorchia
Read more01 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
Read more07 Apr 2004
publication
Where west meets east: the complex mtDNA landscape of the southwest and Central Asian corridor
Read more10 Feb 2004
publication
Y-chromosomal STR haplotypes in Berber and Arabic-speaking populations from Morocco
Read more01 Jul 2003
publication
Male reproductive function and the human Y chromosome: is selection acting on the Y?
Read more01 Jul 2003
publication
Paternal age over 40 years: the “amber light” in the reproductive life of men?
Read more01 Jun 2003
01 Apr 2003
01 Mar 2003
01 Jan 2003
01 Jan 2003
publication
46,XY gonadal dysgenesis: evidence for autosomal dominant transmission in a large kindred
Read more01 Dec 2002
publication
Inhibin B: a marker for the functional state of the seminiferous epithelium in patients with azoospermia factor C microdeletions
Read more19 Oct 2002
01 Oct 2002
publication
Y-chromosome analysis in Egypt suggests a genetic regional continuity in Northeastern Africa
Read more01 Oct 2002
15 Sep 2002
01 Sep 2002
01 Jul 2002
publication
Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses
Read more01 May 2002
01 Apr 2002
01 Mar 2002
publication
Novel paralogy relations among human chromosomes support a link between the phylogeny of doublesex-related genes and the evolution of sex determination
Read more01 Jan 2002
publication
A cost-effective screening test for detecting AZF microdeletions on the human Y chromosome
Read more01 Jan 2002
publication
Understanding inherited disease through human migrations: a south-west Asian perspective
Read more01 Jan 2002
01 Sep 2001
publication
Identification of a Y chromosome haplogroup associated with reduced sperm counts
Read more01 Jul 2001
publication
Reduction in the DAZ gene copy number in two infertile men with impaired spermatogenesis
Read more01 Jun 2001
01 Jun 2001
publication
Double-blind Y chromosome microdeletion analysis in men with known sperm parameters and reproductive hormone profiles: microdeletions are specific for spermatogenic failure
Read more01 Jun 2001
publication
Absence of mutations involving the LIM homeobox domain gene LHX9 in 46,XY gonadal agenesis and dysgenesis
Read more01 Jun 2001
15 May 2001
01 Apr 2001
publication
NSPc1, a novel mammalian Polycomb gene, is expressed in neural crest-derived structures of the peripheral nervous system
Read more01 Jan 2001
publication
The relationship between Y chromosome DNA haplotypes and Y chromosome deletions leading to male infertility
Read more27 Dec 2000
publication
Y-chromosome lineages trace diffusion of people and languages in southwestern Asia
Read more01 Dec 2000
09 Nov 2000
publication
Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language
Read more01 Sep 2000
01 Aug 2000
01 Jul 2000
publication
Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis?
Read more01 Apr 2000
publication
Absence of mutations involving the INSL3 gene in human idiopathic cryptorchidism
Read more01 Mar 2000
publication
The human doublesex-related gene, DMRT2, is homologous to a gene involved in somitogenesis and encodes a potential bicistronic transcript
Read more01 Mar 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
Read more01 Mar 2000
publication
SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development
Read more01 Jan 2000
29 Dec 1999
01 Dec 1999
publication
Genetic evidence of an early exit of Homo sapiens sapiens from Africa through eastern Africa
Read more01 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
Read more01 Oct 1999
publication
A high frequency of Y chromosome deletions in males with nonidiopathic infertility
Read more01 Oct 1999
publication
Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female
Read more01 Jul 1999
publication
Screening for microdeletions of Y chromosome genes in patients undergoing intracytoplasmic sperm injection
Read more01 May 1999
01 Apr 1999
01 Mar 1999
publication
The human SRY protein is present in fetal and adult Sertoli cells and germ cells
Read more15 Jan 1999
01 Sep 1998
publication
Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome
Read more01 Sep 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
Read more01 Feb 1998
publication
Failure of testicular development associated with a rearrangement of 9p24.1 proximal to the SNF2 gene
Read more01 Jan 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
Read more01 Dec 1997
01 Nov 1997
15 Oct 1997
publication
Conservation of Y chromosome-specific sequences immediately 5′ to the testis determining gene in primates
Read more01 Jul 1997
01 May 1997
publication
Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype
Read more15 Apr 1997
publication
Deletions of distal 9p associated with 46,XY male to female sex reversal: definition of the breakpoints at 9p23.3-p24.1
Read more15 Apr 1997
publication
Gene sequence, localization, and evolutionary conservation of DAZLA, a candidate male sterility gene
Read more01 Feb 1997
20 Jan 1997
publication
Hypertelorism and hypospadias associated with a de novo apparently balanced translocation between 8q22.3-23 and 20p13
Read more01 Jan 1997
01 Sep 1996
publication
A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities
Read more01 Aug 1996
publication
Loss of sequences 3′ to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination
Read more01 Jun 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
Read more19 May 1996
01 Apr 1996
publication
Clinical and DNA studies on 46, XY females with gonadal dysgenesis. A report of six cases
Read more01 Dec 1995
01 Oct 1995
publication
Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion
Read more01 Sep 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
Read more01 Aug 1994
publication
Gonadal agenesis in XX and XY sisters: evidence for the involvement of an autosomal gene
Read more01 Jun 1994
publication
Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences
Read more22 Jan 1994
01 Jan 1994
15 Dec 1993
15 Apr 1993
publication
A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development
Read more01 Jan 1993
publication
Pathology of 46,XY pure gonadal dysgenesis: absence of testis differentiation associated with mutations in the testis-determining factor
Read more01 Jan 1993
publication
Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRY-bearing X chromosome
Read more01 Jan 1993
publication
Hormonal and molecular genetic findings in 46,XX subjects with sexual ambiguity and testicular differentiation
Read more01 Sep 1992
publication
A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY
Read more01 Jul 1992
01 May 1992
publication
Familial case with sequence variant in the testis-determining region associated with two sex phenotypes
Read more01 Jan 1992
01 Jan 1992
publication
The sole presence of the testis-determining region of the Y chromosome (SRY) in 46,XX patients is associated with phenotypic variability
Read more01 Feb 1991
publication
Isolation, culture and characterisation of fibroblast-like cells derived from the Wharton’s jelly portion of human umbilical cord
Read more01 Jan 1991