Kenneth McElreavey

Kenneth McElreavey

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Kenneth McElreavey

Kenneth McElreavey

Publications by authors named "Kenneth McElreavey"

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21Publications

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

Eur J Med Genet 2019 Sep 18;62(9):103539. Epub 2018 Sep 18.

Centre de Génétique Humaine, Centre Hospitalier Universitaire, Université de Franche-Comté, Besançon, France.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183005
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http://dx.doi.org/10.1016/j.ejmg.2018.09.006DOI Listing
September 2019

Identification of a homozygous GFPT2 variant in a family with asthenozoospermia.

Gene 2019 May 5;699:16-23. Epub 2019 Mar 5.

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

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https://linkinghub.elsevier.com/retrieve/pii/S03781119193019
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http://dx.doi.org/10.1016/j.gene.2019.02.060DOI Listing
May 2019

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

Eur J Med Genet 2018 Jan 9;61(1):1-7. Epub 2017 Oct 9.

Institut Pasteur de Tunis, Laboratoire de Génomique Biomédicale et Oncogénétique (LR11IPT05), 1002 Tunis, Tunisia.

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http://dx.doi.org/10.1016/j.ejmg.2017.10.002DOI Listing
January 2018

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

Clin Endocrinol (Oxf) 2017 10 24;87(4):407-408. Epub 2017 Jul 24.

Institut Pasteur, Paris, France.

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http://dx.doi.org/10.1111/cen.13396DOI Listing
October 2017

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

BMC Pediatr 2016 Mar 12;16:37. Epub 2016 Mar 12.

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

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http://dx.doi.org/10.1186/s12887-016-0580-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789265PMC
March 2016

An ancient protein-DNA interaction underlying metazoan sex determination.

Nat Struct Mol Biol 2015 Jun 25;22(6):442-51. Epub 2015 May 25.

1] Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, Minnesota, USA. [2] Masonic Cancer Center, University of Minnesota, Minneapolis, Minnesota, USA. [3] Developmental Biology Center, University of Minnesota, Minneapolis, Minnesota, USA.

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http://dx.doi.org/10.1038/nsmb.3032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4476070PMC
June 2015

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

Fertil Steril 2013 Nov 2;100(5):1241-7. Epub 2013 Aug 2.

Institut Pasteur, Unité de Génétique du Développement Humain, Paris, France; Laboratoire d'Eylau, Unilabs, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.fertnstert.2013.06.047DOI Listing
November 2013

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

J Pediatr Endocrinol Metab 2012 ;25(1-2):121-3

Division of Pediatric Endocrinology, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.

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http://dx.doi.org/10.1515/jpem.2011.370DOI Listing
May 2012

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

Fertil Steril 2011 May 27;95(6):2018-23, 2023.e1-3. Epub 2011 Mar 27.

School of Public Health and Family Medicine, Capital Medical University, The Airforce General Hospital, Beijing, People's Republic of China.

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http://dx.doi.org/10.1016/j.fertnstert.2011.02.052DOI Listing
May 2011