Timeline

Kenneth McElreavey
Head of Structure
12 Sep 2019
project

Mammalian SD is a balance of mutually antagonistic pathways

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12 Sep 2019
project

Control of expression of the human testis-determining gene SRY.

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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

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06 May 2019
publication

The TALE homeodomain of PBX1 is involved in human primary testis-determination

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01 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’

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22 Aug 2018
publication

Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer

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07 May 2018
publication

ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling

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01 Apr 2018
publication

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

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22 Feb 2018
publication

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.

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21 Dec 2017
publication

A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD

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01 Jul 2017
publication

Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome

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01 Feb 2017
publication

Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development

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01 Dec 2016
publication

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

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03 Nov 2015
publication

A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome

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20 Oct 2015
news

SEMINAR “DMRT1 and regulation of gonadal cell fate, from genomic to atomic scale”

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07 Jun 2015
project

Identification of key components of the human sex-determination pathway. The DSD exome/genome project.

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07 Jun 2015
project

The role of the ribosome biogenesis factor DHX37 in vertebrate sex-determination.

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25 May 2015
publication

An ancient protein-DNA interaction underlying metazoan sex determination

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11 May 2015
team

Human Developmental Genetics

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21 Apr 2015
publication

Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of sex development (DSD)

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23 Mar 2015
publication

Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis

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06 Mar 2015
publication

Sperm global DNA methylation level: association with semen parameters and genome integrity

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27 Nov 2014
publication

Etiology of primary ovarian insufficiency in a series young girls presenting at a pediatric endocrinology center

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12 Nov 2014
publication

Gene dosage effects in 46, XY DSD: usefulness of CGH technologies for diagnosis

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26 Oct 2014
publication

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

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09 Sep 2014
publication

Next generation sequencing for disorders of sex development

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29 Jul 2014
publication

Specific aspects of consanguinity: some examples from the Tunisian population

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29 Jul 2014
publication

Consanguinity and disorders of sex development

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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

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13 Jun 2014
publication

Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness

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18 Feb 2014
publication

Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination

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30 Jan 2014
publication

Prevalence of the Aurora kinase C c.144delC mutation in infertile Moroccan men

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24 Oct 2013
publication

Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys

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02 Aug 2013
publication

Methylation changes in mature sperm deoxyribonucleic acid from oligozoospermic men: assessment of genetic variants and assisted reproductive technology outcome

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08 May 2013
publication

Effect of temozolomide on male gametes: an epigenetic risk to the offspring?

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30 Apr 2013
publication

Minor hypospadias: the “tip of the iceberg” of the partial androgen insensitivity syndrome

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25 Mar 2013
publication

Understanding the genetic aetiology in patients with XY DSD

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16 Mar 2013
publication

First study of microdeletions in the Y chromosome of Algerian infertile men with idiopathic oligo- or azoospermia

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15 Nov 2012
publication

Biological assessment of abnormal genitalia

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03 Oct 2012
publication

Gene mutations associated with anomalies of human gonad formation

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27 Jun 2012
publication

Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutations

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25 Jun 2012
publication

Partial microdeletions in the Y-chromosome AZFc region are not a significant risk factor for spermatogenic impairment in Tunisian infertile men

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13 Apr 2012
publication

Association of spermatogenic failure with the b2/b3 partial AZFc deletion

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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

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23 Mar 2012
publication

Association of the MTHFR A1298C variant with unexplained severe male infertility

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08 Jan 2012
publication

Polymorphisms in DLGH1 and LAMC1 in Mayer-Rokitansky-Kuster-Hauser syndrome

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01 Jan 2012
publication

Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD

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20 Oct 2011
publication

Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias

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10 Aug 2011
publication

Clinical, biological and genetic analysis of anorchia in 26 boys

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27 Mar 2011
publication

Semen quality analysis of military personnel from six geographical areas of the People’s Republic of China

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01 Feb 2011
publication

Polymorphisms in MTHFR and MTRR genes associated with blood plasma homocysteine concentration and sperm counts

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10 Jan 2011
publication

Loss-of-function mutation in GATA4 causes anomalies of human testicular development

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01 Jan 2011
publication

Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development

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01 Jan 2011
publication

Genetic disorders of sex differentiation

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01 Oct 2010
publication

Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1

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03 Jul 2010
publication

New technologies for the identification of novel genetic markers of disorders of sex development (DSD)

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25 Jun 2010
publication

Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls

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14 Apr 2010
publication

NR5A1/SF-1 and development and function of the ovary

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01 Oct 2009
publication

[NR5A1 and ovarian failure]

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06 Aug 2009
publication

Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts

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01 Aug 2009
publication

Novel human pathological mutations. Gene symbol: SRY. Disease: XY sex reversal

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14 Jul 2009
publication

Mutations in the protamine locus: association with spermatogenic failure?

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21 May 2009
publication

Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility

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25 Feb 2009
publication

Mutations in NR5A1 associated with ovarian insufficiency

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25 Jan 2009
publication

Mutational analysis of the WNT gene family in women with Mayer-Rokitansky-Kuster-Hauser syndrome

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06 Nov 2008
publication

Y-chromosome AZFc structural architecture and relationship to male fertility

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05 Sep 2008
publication

No association between T222P/LGR8 mutation and cryptorchidism in the Moroccan population

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13 Jun 2008
publication

[Y chromosome and male infertility: what is a normal Y chromosome?]

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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

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01 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

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29 Jan 2008
publication

Mutations in NALP12 cause hereditary periodic fever syndromes

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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

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01 Sep 2007
publication

AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men

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20 Jul 2007
publication

Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder

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18 May 2007
publication

Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1

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09 May 2007
publication

Mutations in the protamine 1 gene associated with male infertility

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01 May 2007
publication

Novel mutations involving the INSL3 gene associated with cryptorchidism

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01 Jan 2007
publication

Analysis of SPINK 5, KLK 7 and FLG genotypes in a French atopic dermatitis cohort

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31 Oct 2006
publication

Sperm-FISH analysis in a pericentric chromosome 1 inversion, 46,XY,inv(1)(p22q42), associated with infertility

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18 Sep 2006
publication

[Molecular anomalies of the Y chromosome: Consequences on male fertility]

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03 Aug 2006
publication

Haplotypes, mutations and male fertility: the story of the testis-specific ubiquitin protease USP26

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01 Jun 2006
publication

Molecular characterization of a bovine Y-specific DNA sequence conserved in taurine and zebu breeds

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01 Apr 2006
publication

Transcriptional diversity of DMRT1 (dsx- and mab3-related transcription factor 1) in human testis

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19 Mar 2006
publication

Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

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01 Feb 2006
publication

Y chromosome variants and male reproductive function

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13 Jan 2006
publication

Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes

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03 Jan 2006
publication

Promoter variation in the DC-SIGN-encoding gene CD209 is associated with tuberculosis

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01 Jan 2006
publication

GR/GR deletions within the azoospermia factor c region on the Y chromosome might not be associated with spermatogenic failure

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01 Aug 2005
publication

Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature

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01 Jun 2005
publication

Idiopathic male pseudohermaphroditism: variations in presentation and management

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01 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

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01 Mar 2005
publication

A population genetics perspective of the Indus Valley through uniparentally-inherited markers

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25 Feb 2005
publication

A deletion of a novel heat shock gene on the Y chromosome associated with azoospermia

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13 Jan 2005
publication

Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study

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01 Jan 2005
publication

The Tyr978X BRCA1 mutation: occurrence in non-Jewish Iranians and haplotype in French-Canadian and non-Ashkenazi Jews

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01 Jan 2005
publication

First Asian workshop on genomics and community genetics, Shenzhen, PR China, 10-22 April 2004

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01 Dec 2004
publication

An analysis of the genetic factors involved in testicular descent in a cohort of 14 male patients with anorchia

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01 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

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07 Apr 2004
publication

Where west meets east: the complex mtDNA landscape of the southwest and Central Asian corridor

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10 Feb 2004
publication

Y-chromosomal STR haplotypes in Berber and Arabic-speaking populations from Morocco

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01 Jul 2003
publication

Male reproductive function and the human Y chromosome: is selection acting on the Y?

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01 Jul 2003
publication

Paternal age over 40 years: the “amber light” in the reproductive life of men?

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01 Jun 2003
publication

Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis

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01 Apr 2003
publication

The Y chromosome and male fertility and infertility

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01 Mar 2003
publication

Y chromosome haplotypes and testicular cancer in the English population

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01 Jan 2003
publication

Y chromosome haplogroups: a correlation with testicular dysgenesis syndrome?

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01 Jan 2003
publication

46,XY gonadal dysgenesis: evidence for autosomal dominant transmission in a large kindred

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01 Dec 2002
publication

Inhibin B: a marker for the functional state of the seminiferous epithelium in patients with azoospermia factor C microdeletions

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19 Oct 2002
publication

Effects of transmission of Y chromosome AZFc deletions

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01 Oct 2002
publication

Y-chromosome analysis in Egypt suggests a genetic regional continuity in Northeastern Africa

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01 Oct 2002
publication

[Human infertility: meiotic genes as potential candidates]

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15 Sep 2002
publication

Mutations of the GREAT gene cause cryptorchidism

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01 Sep 2002
publication

Transmission of an unbalanced (Y;1) translocation in Brittany, France

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01 Jul 2002
publication

Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses

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01 May 2002
publication

[Male infertility and microdeletions of the Y chromosome]

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01 Apr 2002
publication

SRY gene expression in the ovotestes of XX true hermaphrodites

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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

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01 Jan 2002
publication

The sexually transmitted genome

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01 Jan 2002
publication

A cost-effective screening test for detecting AZF microdeletions on the human Y chromosome

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01 Jan 2002
publication

Understanding inherited disease through human migrations: a south-west Asian perspective

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01 Sep 2001
publication

Identification of a Y chromosome haplogroup associated with reduced sperm counts

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01 Jul 2001
publication

Reduction in the DAZ gene copy number in two infertile men with impaired spermatogenesis

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01 Jun 2001
publication

X-Y translocations and sex differentiation

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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

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01 Jun 2001
publication

Absence of mutations involving the LIM homeobox domain gene LHX9 in 46,XY gonadal agenesis and dysgenesis

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01 Jun 2001
publication

Y chromosome microdeletions in ‘fertile’ males

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15 May 2001
publication

The human Y chromosome: function, evolution and disease

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01 Apr 2001
publication

NSPc1, a novel mammalian Polycomb gene, is expressed in neural crest-derived structures of the peripheral nervous system

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01 Jan 2001
publication

The relationship between Y chromosome DNA haplotypes and Y chromosome deletions leading to male infertility

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27 Dec 2000
publication

Y-chromosome lineages trace diffusion of people and languages in southwestern Asia

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01 Dec 2000
publication

Sex chromosome mosaicism in males carrying Y chromosome long arm deletions

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09 Nov 2000
publication

Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language

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01 Sep 2000
publication

Deletions of 9p and the quest for a conserved mechanism of sex determination

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01 Aug 2000
publication

Y chromosome microdeletions and germinal mosaicism in infertile males

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01 Jul 2000
publication

Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis?

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01 Apr 2000
publication

Absence of mutations involving the INSL3 gene in human idiopathic cryptorchidism

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01 Mar 2000
publication

The human doublesex-related gene, DMRT2, is homologous to a gene involved in somitogenesis and encodes a potential bicistronic transcript

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01 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

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01 Mar 2000
publication

SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development

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01 Jan 2000
publication

The human Y chromosome and male infertility

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29 Dec 1999
publication

Sex determination and the Y chromosome

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01 Dec 1999
publication

Genetic evidence of an early exit of Homo sapiens sapiens from Africa through eastern Africa

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01 Nov 1999
publication

Ullrich-Turner syndrome: relevance of searching for Y chromosome fragments

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01 Nov 1999
publication

Recent male-mediated gene flow over a linguistic barrier in Iberia, suggested by analysis of a Y-chromosomal DNA polymorphism

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01 Oct 1999
publication

A high frequency of Y chromosome deletions in males with nonidiopathic infertility

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01 Oct 1999
publication

Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female

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01 Jul 1999
publication

Screening for microdeletions of Y chromosome genes in patients undergoing intracytoplasmic sperm injection

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01 May 1999
publication

[Genetic control of spermatogenesis: Y chromosome and male infertility]

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01 Apr 1999
publication

Sex Chromosome Genetics ’99. Male infertility and the Y chromosome

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01 Mar 1999
publication

The human SRY protein is present in fetal and adult Sertoli cells and germ cells

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15 Jan 1999
publication

Y chromosome and male infertility

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01 Sep 1998
publication

Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome

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01 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

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01 Feb 1998
publication

Failure of testicular development associated with a rearrangement of 9p24.1 proximal to the SNF2 gene

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01 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

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01 Dec 1997
publication

Donor splice-site mutations in WT1 are responsible for Frasier syndrome

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01 Nov 1997
publication

Sex-determining genes

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15 Oct 1997
publication

Conservation of Y chromosome-specific sequences immediately 5′ to the testis determining gene in primates

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01 Jul 1997
publication

[Y chromosome and spermatogenesis]

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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

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15 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

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15 Apr 1997
publication

Gene sequence, localization, and evolutionary conservation of DAZLA, a candidate male sterility gene

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01 Feb 1997
publication

True hermaphroditism: clinical aspects and molecular studies in 16 cases

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20 Jan 1997
publication

Hypertelorism and hypospadias associated with a de novo apparently balanced translocation between 8q22.3-23 and 20p13

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01 Jan 1997
publication

[Sex determination and differentiation in man: from pathology to genes]

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01 Sep 1996
publication

A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities

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01 Aug 1996
publication

Loss of sequences 3′ to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination

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01 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

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19 May 1996
publication

[46,XX karyotype males, based on a specific case]

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01 Apr 1996
publication

Clinical and DNA studies on 46, XY females with gonadal dysgenesis. A report of six cases

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01 Dec 1995
publication

The genetic basis of murine and human sex determination: a review

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01 Oct 1995
publication

Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion

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01 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

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01 Aug 1994
publication

Gonadal agenesis in XX and XY sisters: evidence for the involvement of an autosomal gene

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01 Jun 1994
publication

Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences

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22 Jan 1994
publication

SRY-negative XX fetus with complete male phenotype

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01 Jan 1994
publication

[Study of sex determination gene (SRY) in 46,XY gonadal dysgenesis]

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15 Dec 1993
publication

Control of sex determination in animals

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15 Apr 1993
publication

A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development

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01 Jan 1993
publication

Pathology of 46,XY pure gonadal dysgenesis: absence of testis differentiation associated with mutations in the testis-determining factor

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01 Jan 1993
publication

Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRY-bearing X chromosome

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01 Jan 1993
publication

Hormonal and molecular genetic findings in 46,XX subjects with sexual ambiguity and testicular differentiation

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01 Sep 1992
publication

A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY

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01 Jul 1992
publication

XY sex reversal associated with a nonsense mutation in SRY

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01 May 1992
publication

Familial case with sequence variant in the testis-determining region associated with two sex phenotypes

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01 Jan 1992
publication

[Isolation of the sex-determining gene in men]

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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

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01 Feb 1991
publication

Isolation, culture and characterisation of fibroblast-like cells derived from the Wharton’s jelly portion of human umbilical cord

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01 Jan 1991
publication

[The analysis of SRY doesn’t explain all the pathology of sex determination]

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