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Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele.
Radhakrishna U, Nath SK, McElreavey K, Ratnamala U, Sun C, Maiti AK, Gagnebin M, Béna F, Newkirk HL, Sharp AJ, Everman DB, Murray JC, Schwartz CE, Antonarakis SE, Butler MG. Radhakrishna U, et al. Among authors: mcelreavey k. J Med Genet. 2012 Apr;49(4):270-6. doi: 10.1136/jmedgenet-2012-100826. J Med Genet. 2012. PMID: 22499347 Free PMC article.
Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis.
Jawaheer D, Juo SH, Le Caignec C, David A, Petit C, Gregersen P, Dowbak S, Damle A, McElreavey K, Ostrer H. Jawaheer D, et al. Among authors: mcelreavey k. Clin Genet. 2003 Jun;63(6):530-5. doi: 10.1034/j.1399-0004.2003.00082.x. Clin Genet. 2003. PMID: 12786760
Y-chromosome lineages trace diffusion of people and languages in southwestern Asia.
Quintana-Murci L, Krausz C, Zerjal T, Sayar SH, Hammer MF, Mehdi SQ, Ayub Q, Qamar R, Mohyuddin A, Radhakrishna U, Jobling MA, Tyler-Smith C, McElreavey K. Quintana-Murci L, et al. Among authors: mcelreavey k. Am J Hum Genet. 2001 Feb;68(2):537-42. doi: 10.1086/318200. Epub 2000 Dec 27. Am J Hum Genet. 2001. PMID: 11133362 Free PMC article.
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.
Bashamboo A, Ferraz-de-Souza B, Lourenço D, Lin L, Sebire NJ, Montjean D, Bignon-Topalovic J, Mandelbaum J, Siffroi JP, Christin-Maitre S, Radhakrishna U, Rouba H, Ravel C, Seeler J, Achermann JC, McElreavey K. Bashamboo A, et al. Among authors: mcelreavey k. Am J Hum Genet. 2010 Oct 8;87(4):505-12. doi: 10.1016/j.ajhg.2010.09.009. Am J Hum Genet. 2010. PMID: 20887963 Free PMC article.
Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility.
Machev N, Saut N, Longepied G, Terriou P, Navarro A, Levy N, Guichaoua M, Metzler-Guillemain C, Collignon P, Frances AM, Belougne J, Clemente E, Chiaroni J, Chevillard C, Durand C, Ducourneau A, Pech N, McElreavey K, Mattei MG, Mitchell MJ. Machev N, et al. Among authors: mcelreavey k. J Med Genet. 2004 Nov;41(11):814-25. doi: 10.1136/jmg.2004.022111. J Med Genet. 2004. PMID: 15520406 Free PMC 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.
McElreavey K, Jorgensen A, Eozenou C, Merel T, Bignon-Topalovic J, Tan DS, Houzelstein D, Buonocore F, Warr N, Kay RGG, Peycelon M, Siffroi JP, Mazen I, Achermann JC, Shcherbak Y, Leger J, Sallai A, Carel JC, Martinerie L, Le Ru R, Conway GS, Mignot B, Van Maldergem L, Bertalan R, Globa E, Brauner R, Jauch R, Nef S, Greenfield A, Bashamboo A. McElreavey K, et al. Genet Med. 2020 Jan;22(1):150-159. doi: 10.1038/s41436-019-0606-y. Epub 2019 Jul 24. Genet Med. 2020. PMID: 31337883 Free PMC article.
Transmission of an unbalanced (Y;1) translocation in Brittany, France.
Morel F, Duguépéroux I, McElreavey K, Le Bris MJ, Herry A, Parent P, Le Martelot MT, Fellous M, De Braekeleer M. Morel F, et al. Among authors: mcelreavey k. J Med Genet. 2002 Sep;39(9):e52. doi: 10.1136/jmg.39.9.e52. J Med Genet. 2002. PMID: 12205122 Free PMC article. No abstract available.
243 results