List of works - Kenneth McElreavey

A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis

scientific article published on 21 July 2018

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

scientific article published on 21 December 2017

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.

scientific article published on 25 July 2014

A missense mutation in NR5A1 causing female to male sex reversal: A case report

scientific article published on 09 April 2020

A novel HSD17B3 gene mutation in a 46,XY female-phenotype newborn identified by whole-exome sequencing

scientific article published on 15 June 2017

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

scientific journal article

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

scientific article published on 27 December 2016

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

scientific article published on September 2007

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

scientific article

An ancient protein-DNA interaction underlying metazoan sex determination

scientific article published on 25 May 2015

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

scientific article

Association of the MTHFR A1298C variant with unexplained severe male infertility

scientific article (publication date: 2012)

Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion

scientific article published on 18 September 2018

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

scientific article

Clinical, biological and genetic analysis of anorchia in 26 boys

scientific article

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

scientific article published in 2010

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

scientific article

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

scientific article

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

scientific article

Consanguinity and disorders of sex development

scientific article

Constitutional delay of puberty: presentation and inheritance pattern in 48 familial cases

scientific article

Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndrome

scientific article published on 23 May 2019

DHX37 and 46,XY DSD: A New Ribosomopathy?

scientific article published in 2022

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

scientific article

Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance

scientific article published on 9 October 2017

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

scientific article

Early recognition of gonadal dysgenesis in congenital nephrotic syndrome

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

scientific article published on 27 November 2014

Familial early puberty: presentation and inheritance pattern in 139 families

scientific article

Familial forms of disorders of sex development may be common if infertility is considered a comorbidity

scientific article

First Study of Microdeletions in the Y Chromosome of Algerian Infertile Men with Idiopathic Oligo- or Azoospermia ⬇️

scientific article published on March 16, 2013

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

scientific article published in January 2006

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

scientific article published on 23 March 2015

Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele

scientific article published on April 2012

Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development

scientific article

Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome

scientific article

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

scientific article

Human sex-determination and disorders of sex-development (DSD).

scientific article

Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis.

scientific article

Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing

scientific article published on 24 March 2017

Identification of a homozygous GFPT2 variant in a family with asthenozoospermia

scientific article published on 05 March 2019

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

scientific article

Longitudinal Evaluation of the Hypothalamic-Pituitary-Testicular Function in 8 Boys with Adrenal Hypoplasia Congenita (AHC) Due to NR0B1 Mutations ⬇️

scientific article published on June 27, 2012

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

scientific article published on 16 February 2018

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

scientific article

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

scientific article

Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development

scientific article published on 3 December 2016

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

scientific article published on August 2, 2013

Minor Hypospadias: The “Tip of the Iceberg” of the Partial Androgen Insensitivity Syndrome ⬇️

scientific article published on April 30, 2013

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

scientific article

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

scientific article

Mutations in NR5A1 associated with ovarian insufficiency

scientific article

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

scientific article

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

scientific article published on 18 February 2014

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

scientific article published on 21 May 2009

Mutations in the human ROBO1 gene in pituitary stalk interruption syndrome

scientific article published on 11 April 2017

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

scientific article published on 24 January 2018

Mutations of the GREAT gene cause cryptorchidism

scientific journal article

Next generation sequencing for disorders of sex development

scientific article published on 09 September 2014

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

scientific article

Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort

scientific article published in 2022

Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea

scientific article

Novel mutations involving the INSL3 gene associated with cryptorchidism

scientific article

Novel paralogy relations among human chromosomes support a link between the phylogeny of doublesex-related genes and the evolution of sex determination

scientific article

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

scientific article published on 25 June 2012

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

scientific article

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

scientific article published on 24 July 2019

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity

scientific article published on 03 December 2020

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

scientific article published on 8 January 2012

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

scientific article published on February 1, 2011

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

scientific article

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

scientific article

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

scientific article published on 21 April 2015

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

scientific article

Report of fertility in woman with predominantly 46,XY karyotype in family with multiple disorders of sexual development: review of prismatic case

scientific article published on March 2008

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

scientific article published on 27 March 2011

Specific aspects of consanguinity: some examples from the Tunisian population

scientific article

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene

scientific article published on 03 June 2020

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

scientific article published on 21 May 2019

The Y chromosome and male fertility and infertility

scientific article

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

scientific article

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

scientific article

Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis

scientific article published on 2 November 2017

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

scientific article published in 2014

Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome.

scientific article published in December 2015

Y chromosome haplogroups: a correlation with testicular dysgenesis syndrome?

scientific article

Y chromosome variants and male reproductive function

scientific article

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

scientific article

Y-chromosome AZFc structural architecture and relationship to male fertility

scientific article published on 6 November 2008

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

scientific article (publication date: October 2002)

ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling

scientific article published on 7 May 2018

List of works by Kenneth McElreavey

A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis

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

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.

A missense mutation in NR5A1 causing female to male sex reversal: A case report

A novel HSD17B3 gene mutation in a 46,XY female-phenotype newborn identified by whole-exome sequencing

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

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

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

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

An ancient protein-DNA interaction underlying metazoan sex determination

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

Association of the MTHFR A1298C variant with unexplained severe male infertility

Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion

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

Clinical, biological and genetic analysis of anorchia in 26 boys

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

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

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

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

Consanguinity and disorders of sex development

Constitutional delay of puberty: presentation and inheritance pattern in 48 familial cases

Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndrome

DHX37 and 46,XY DSD: A New Ribosomopathy?

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

Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance

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

Early recognition of gonadal dysgenesis in congenital nephrotic syndrome

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

Familial early puberty: presentation and inheritance pattern in 139 families

Familial forms of disorders of sex development may be common if infertility is considered a comorbidity

First Study of Microdeletions in the Y Chromosome of Algerian Infertile Men with Idiopathic Oligo- or Azoospermia ⬇️

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

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

Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele

Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development

Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome

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

Human sex-determination and disorders of sex-development (DSD).

Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis.

Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing

Identification of a homozygous GFPT2 variant in a family with asthenozoospermia

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

Longitudinal Evaluation of the Hypothalamic-Pituitary-Testicular Function in 8 Boys with Adrenal Hypoplasia Congenita (AHC) Due to NR0B1 Mutations ⬇️

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

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

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

Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development

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

Minor Hypospadias: The “Tip of the Iceberg” of the Partial Androgen Insensitivity Syndrome ⬇️

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

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

Mutations in NR5A1 associated with ovarian insufficiency

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

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

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

Mutations in the human ROBO1 gene in pituitary stalk interruption syndrome

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

Mutations of the GREAT gene cause cryptorchidism

Next generation sequencing for disorders of sex development

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

Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort

Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea

Novel mutations involving the INSL3 gene associated with cryptorchidism

Novel paralogy relations among human chromosomes support a link between the phylogeny of doublesex-related genes and the evolution of sex determination

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

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

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity

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

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

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

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

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

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

Report of fertility in woman with predominantly 46,XY karyotype in family with multiple disorders of sexual development: review of prismatic case

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

Specific aspects of consanguinity: some examples from the Tunisian population

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene

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