Publications by authors named "Ken McElreavey"

89Publications

Addressing gaps in care of people with conditions affecting sex development and maturation.

Nat Rev Endocrinol 2019 10 12;15(10):615-622. Epub 2019 Aug 12.

Growth and Development Research Unit, Vall d'Hebron Research Institute (VHIR), Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.

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http://dx.doi.org/10.1038/s41574-019-0238-yDOI Listing
October 2019

Identification of a missense variant in CLDN2 in obstructive azoospermia.

J Hum Genet 2019 Oct 18;64(10):1023-1032. Epub 2019 Jul 18.

Department of Genetics at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.

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http://dx.doi.org/10.1038/s10038-019-0642-0DOI Listing
October 2019

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

Hum Mutat 2019 08 21;40(8):1071-1076. Epub 2019 May 21.

Pediatric Endocrinology Unit, Foundation Ophtalmologique Adolphe de Rothschild and Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1002/humu.23780DOI Listing
August 2019

Aromatase Deficiency due to a Homozygous CYP19A1 Mutation in a 46,XX Egyptian Patient with Ambiguous Genitalia.

Sex Dev 2017 12;11(5-6):275-279. Epub 2018 Jan 12.

Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1159/000485278DOI Listing
October 2018

WT1 Gene Mutation, p.R462W, in a 46,XY DSD Patient from Egypt with Gonadoblastoma and Review of the Literature.

Sex Dev 2017 11;11(5-6):280-283. Epub 2018 Jan 11.

Department of Clinical Genetics, Division of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1159/000485394DOI Listing
October 2018

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

Sex Dev 2017 21;11(5-6):269-274. Epub 2017 Dec 21.

Laboratoire de Génétique Moléculaire Humaine, Département de la Recherche Scientifique, Institut Pasteur du Maroc, Casablanca, Morocco.

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http://dx.doi.org/10.1159/000485393DOI Listing
October 2018

Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome.

J Clin Endocrinol Metab 2017 07;102(7):2401-2406

Université Paris Descartes and Pediatric Endocrinology Unit, Fondation Ophtalmologique Adolphe de Rothschild, 75019 Paris, France.

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http://dx.doi.org/10.1210/jc.2016-1095DOI Listing
July 2017

Novel AMH and AMHR2 Mutations in Two Egyptian Families with Persistent Müllerian Duct Syndrome.

Sex Dev 2017 1;11(1):29-33. Epub 2017 Feb 1.

Department of Clinical Genetics, Human Genetic and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1159/000455019DOI Listing
November 2017

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

Sex Dev 2016 3;10(5-6):313-325. Epub 2016 Dec 3.

Human Developmental Genetics, Department of Development and Stem Cell Biology, CNRS, UMR 3738, Institut Pasteur, Paris, France.

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https://www.karger.com/Article/FullText/452637
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http://dx.doi.org/10.1159/000452637DOI Listing
November 2017

Familial early puberty: presentation and inheritance pattern in 139 families.

BMC Endocr Disord 2016 Sep 13;16(1):50. Epub 2016 Sep 13.

Fondation Ophtalmologique Adolphe de Rothschild and Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1186/s12902-016-0130-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5022170PMC
September 2016

The role of next generation sequencing in understanding male and female sexual development: clinical implications.

Expert Rev Endocrinol Metab 2016 Sep 17;11(5):433-443. Epub 2016 Aug 17.

a Human Developmental Genetics , Institut Pasteur , Paris , France.

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http://dx.doi.org/10.1080/17446651.2016.1220299DOI Listing
September 2016

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

Sex Dev 2016 8;10(1):16-22. Epub 2016 Apr 8.

Department of Clinical Genetics, National Research Center, Cairo, Egypt.

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http://dx.doi.org/10.1159/000444948DOI Listing
November 2017

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

Semin Cell Dev Biol 2015 Sep 23;45:77-83. Epub 2015 Oct 23.

Human Developmental Genetics, Institut Pasteur, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.semcdb.2015.10.030DOI Listing
September 2015

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

Fertil Steril 2015 May 23;103(5):1297-304. Epub 2015 Mar 23.

Université Paris Descartes and Pediatric Endocrinology Unit, Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.

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http://dx.doi.org/10.1016/j.fertnstert.2015.01.043DOI Listing
May 2015

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

Eur J Pediatr 2015 Jun 27;174(6):767-73. Epub 2014 Nov 27.

Université Paris Descartes and Fondation Ophtalmologique Adolphe de Rothschild, Paris, France,

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http://dx.doi.org/10.1007/s00431-014-2457-5DOI Listing
June 2015

Next generation sequencing for disorders of sex development.

Endocr Dev 2014 9;27:53-62. Epub 2014 Sep 9.

Medical Genetics, School of Medicine, College of MVLS, University of Glasgow, Glasgow, UK.

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http://dx.doi.org/10.1159/000363615DOI Listing
June 2015

Specific aspects of consanguinity: some examples from the Tunisian population.

Hum Hered 2014 29;77(1-4):167-74. Epub 2014 Jul 29.

Biomedical Genomics and Oncogenetics Laboratory LR11IPT05, Institut Pasteur de Tunis, Université Tunis El Manar, Tunis, Tunisia.

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http://dx.doi.org/10.1159/000362167DOI Listing
March 2015

Consanguinity and disorders of sex development.

Hum Hered 2014 29;77(1-4):108-17. Epub 2014 Jul 29.

Human Developmental Genetics, Institut Pasteur, Paris, France.

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http://dx.doi.org/10.1159/000360763DOI Listing
March 2015

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

Hum Mol Genet 2014 Jul 18;23(14):3657-65. Epub 2014 Feb 18.

Human Developmental Genetics, Institut Pasteur, Paris, France.

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http://dx.doi.org/10.1093/hmg/ddu074DOI Listing
July 2014

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

Fertil Steril 2014 Apr 30;101(4):1086-90. Epub 2014 Jan 30.

Human Developmental Genetic Unit, Pasteur Institute, Paris, France.

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http://dx.doi.org/10.1016/j.fertnstert.2013.12.040DOI Listing
April 2014

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

PLoS One 2013 24;8(10):e77827. Epub 2013 Oct 24.

Université Paris Descartes and Fondation Ophtalmologique Adolphe de Rothschild, Pediatric Endocrinology Unit, Paris, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0077827PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3812007PMC
September 2014

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

Urol Int 2013 16;90(4):455-9. Epub 2013 Mar 16.

Laboratory of Biology and Molecular Genetics, Department of Animal Biology, Faculty of Natural and Life Science, University of Mentouri, Constantine, Algeria.

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https://www.karger.com/Article/FullText/347046
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http://dx.doi.org/10.1159/000347046DOI Listing
January 2014

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

PLoS One 2012 27;7(6):e39828. Epub 2012 Jun 27.

Université Paris Descartes, Sorbonne Paris Cité, and Assistance Publique-Hôpitaux de Paris, Hôpital Bicêtre, Unité d'Endocrinologie Pédiatrique, Le Kremlin Bicêtre, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0039828PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3384599PMC
January 2013

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

Reprod Biomed Online 2012 Apr 8;24(4):462-5. Epub 2012 Jan 8.

UPMC Université Paris 06, Paris, France.

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http://dx.doi.org/10.1016/j.rbmo.2011.12.008DOI Listing
April 2012

Clinical, biological and genetic analysis of anorchia in 26 boys.

PLoS One 2011 10;6(8):e23292. Epub 2011 Aug 10.

Université Paris Descartes and AP-HP, Hôpital Bicêtre, Unité d'Endocrinologie Pédiatrique, Le Kremlin Bicêtre, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0023292PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3154292PMC
December 2011

Genetic disorders of sex differentiation.

Adv Exp Med Biol 2011 ;707:91-9

Human Developmental Genetics, Institut Pasteur, Paris, France.

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http://dx.doi.org/10.1007/978-1-4419-8002-1_20DOI Listing
September 2011

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

Proc Natl Acad Sci U S A 2011 Jan 10;108(4):1597-602. Epub 2011 Jan 10.

Human Developmental Genetics, Institut Pasteur, 75724 Paris, France.

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http://dx.doi.org/10.1073/pnas.1010257108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3029689PMC
January 2011

[NR5A1 and ovarian failure].

Med Sci (Paris) 2009 Oct;25(10):809-13

Human Developmental Genetics, Institut Pasteur, 25-28, rue du Docteur Roux, 75724 Paris Cedex 15, France.

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http://dx.doi.org/10.1051/medsci/20092510809DOI Listing
October 2009

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

Fertil Steril 2009 Oct 21;92(4):1347-1350. Epub 2009 May 21.

Human Developmental Genetics, Institut Pasteur, Paris, France.

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http://dx.doi.org/10.1016/j.fertnstert.2009.04.009DOI Listing
October 2009

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

Fertil Steril 2009 Apr 25;91(4 Suppl):1604-7. Epub 2009 Jan 25.

Human Developmental Genetics, Institut Pasteur, Paris, France.

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http://dx.doi.org/10.1016/j.fertnstert.2008.12.006DOI Listing
April 2009

Y-chromosome AZFc structural architecture and relationship to male fertility.

Fertil Steril 2009 Dec 6;92(6):1924-33. Epub 2008 Nov 6.

Human Developmental Genetics, Institut Pasteur, Paris, France.

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http://dx.doi.org/10.1016/j.fertnstert.2008.08.135DOI Listing
December 2009

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

Horm Res 2008 5;70(4):236-9. Epub 2008 Sep 5.

Human Genetic Laboratory, Pasteur Institute of Morocco, Casablanca, Morocco.

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http://dx.doi.org/10.1159/000151596DOI Listing
December 2008

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

J Soc Biol 2008 13;202(2):135-41. Epub 2008 Jun 13.

Reproduction, Fertilité et Populations, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France.

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http://dx.doi.org/10.1051/jbio:2008017DOI Listing
October 2008

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

J Clin Endocrinol Metab 2008 Jan 13;93(1):182-9. Epub 2007 Nov 13.

Department of Pediatric Endocrinology and Diabetes, University Hospital Rebro, Zagreb, Croatia 41000.

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http://dx.doi.org/10.1210/jc.2007-2155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2190741PMC
January 2008

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

Acta Derm Venereol 2007 ;87(6):499-505

Service de Dermatologie, CHU Bordeaux, Hôpital Saint André, France.

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http://dx.doi.org/10.2340/00015555-0329DOI Listing
February 2008

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

Asian J Androl 2007 Sep;9(5):674-8

Human Genetic and Cytogenetic Unit, Research Department, Pasteur Institute of Morocco, Ezzahraoui 20100 Casablanca, Morocco.

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http://dx.doi.org/10.1111/j.1745-7262.2007.00290.xDOI Listing
September 2007

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

Cell Res 2006 Apr;16(4):389-93

Department of Genetics and Center for Developmental Biology, College of Life Sciences, Wuhan University, Wuhan 430072, China.

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http://www.nature.com/doifinder/10.1038/sj.cr.7310050
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http://dx.doi.org/10.1038/sj.cr.7310050DOI Listing
April 2006

Y chromosome variants and male reproductive function.

Int J Androl 2006 Feb;29(1):298-303; discussion 304-6

Reproduction, Fertility and Populations, Institut Pasteur, Paris, France.

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http://dx.doi.org/10.1111/j.1365-2605.2005.00637.xDOI Listing
February 2006

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

Fertil Steril 2006 Jan;85(1):229-31

Reproduction, Fertility and Populations, Department of Developmental Biology, Institut Pasteur, Paris, France.

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http://dx.doi.org/10.1016/j.fertnstert.2005.07.1278DOI Listing
January 2006

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

J Pediatr Endocrinol Metab 2005 Aug;18(8):739-48

Department of Pediatrics, The New York Presbyterian Hospital-Weill Medical College of Cornell University, New York, NY, USA.

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http://dx.doi.org/10.1515/jpem.2005.18.8.739DOI Listing
August 2005

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

Mol Hum Reprod 2005 Apr 25;11(4):295-8. Epub 2005 Feb 25.

Reproduction, Fertility and Populations, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France.

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http://dx.doi.org/10.1093/molehr/gah153DOI Listing
April 2005

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

J Clin Endocrinol Metab 2004 Dec;89(12):6282-5

Reproduction, Fertility and Populations Unit, Institut Pasteur, Paris, France.

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http://dx.doi.org/10.1210/jc.2004-0891DOI Listing
December 2004

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

Reprod Biomed Online 2003 Jul-Aug;7(1):17-23

Reproduction, Fertility and Populations, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France.

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http://dx.doi.org/10.1016/s1472-6483(10)61723-3DOI Listing
March 2004

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

J Androl 2003 Jul-Aug;24(4):459-65

Department of Public Health-Epidemiology-Human Reproduction, INSERM Unit 569, Bicêtre Hospital, Bicêtre, France.

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http://dx.doi.org/10.1002/j.1939-4640.2003.tb02694.xDOI Listing
December 2003

Y chromosome haplogroups: a correlation with testicular dysgenesis syndrome?

APMIS 2003 Jan;111(1):106-13; discussion 114

Reproduction, Fertility and Populations, Institut Pasteur, Paris, France.

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http://dx.doi.org/10.1034/j.1600-0463.2003.11101151.xDOI Listing
January 2003

The Y chromosome and male fertility and infertility.

Int J Androl 2003 Apr;26(2):70-5

Department of Clinical Physiopathology, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1046/j.1365-2605.2003.00402.xDOI Listing
April 2003

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

Hum Biol 2002 Oct;74(5):645-58

Laboratoire d'Anthropologie Biologique (CNRS FRE 2292); Musée de l'Homme MNHN, Paris, France.

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http://dx.doi.org/10.1353/hub.2002.0054DOI Listing
October 2002

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

Genet Test 2002 ;6(3):185-94

Departamento de Imunologia, Instituto de Ciências Biomédicas, Universidade de São Paulo, SP, Brazil.

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http://dx.doi.org/10.1089/109065702761403342DOI Listing
May 2003

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

Am J Med Genet A 2003 Jan;116A(1):37-43

Service de Génétique Médicale, Centre Hospitalo-Universitaire, Nantes, France.

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http://dx.doi.org/10.1002/ajmg.a.10820DOI Listing
January 2003

Effects of transmission of Y chromosome AZFc deletions.

Lancet 2002 Oct;360(9341):1222-4

Cyprus Institute of Neurology and Genetics, Cyprus.

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http://dx.doi.org/10.1016/s0140-6736(02)11248-7DOI Listing
October 2002

Mutations of the GREAT gene cause cryptorchidism.

Hum Mol Genet 2002 Sep;11(19):2309-18

Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/hmg/11.19.2309DOI Listing
September 2002

SRY gene expression in the ovotestes of XX true hermaphrodites.

J Urol 2002 Apr;167(4):1828-31

Los Angeles State University School of Medicine-Children's Hospital New Orleans, Louisiana, USA.

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April 2002

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

Genomics 2002 Mar;79(3):333-43

Immunogénétique Humaine, INSERM E0021, Institut Pasteur, 25 rue du Dr Roux, Paris Cedex 15, 75724, France.

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http://dx.doi.org/10.1006/geno.2002.6711DOI Listing
March 2002

The sexually transmitted genome.

Trends Genet 2002 Jan;18(1):13-4

Immunogénétique Humaine, Institut Pasteur, Paris 75724, France.

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http://dx.doi.org/10.1016/s0168-9525(01)02580-xDOI Listing
January 2002