Recent Publications

Vinci G, Chantot-Bastaraud S, El Houate B, Lortat-Jacob S, Brauner R, McElreavey K. Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder. Mol Hum Reprod. 2007 13:685-9.

Ravel C, Chantot-Bastaraud S, El Houate B, Berthaut I, Verstraete L, De Larouziere V, Lourenco D, Dumaine A, Antoine JM, Mandelbaum J, Siffroi JP, McElreavey K. Mutations in the protamine 1 gene associated with male infertility. Mol Hum Reprod. 2007 13:461-4.

Ravel C, El Houate B, Chantot S, Lourenco D, Dumaine A, Rouba H, Bandyopadahyay A, Radhakrishna U, Das B, Sengupta S, Mandelbaum J, Siffroi JP, McElreavey K.Haplotypes, mutations and male fertility: the story of the testis-specific ubiquitin protease USP26.
Mol Hum Reprod. 2006 12:643-6.

Palmer CN, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, Lee SP, Goudie DR, Sandilands A, Campbell LE, Smith FJ, O’Regan GM, Watson RM, Cecil JE, Bale SJ, Compton JG, DiGiovanna JJ, Fleckman P, Lewis-Jones S, Arseculeratne G, Sergeant A, Munro CS, El Houate B, McElreavey K, Halkjaer LB, Bisgaard H, Mukhopadhyay S, McLean WH. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet. 2006 38:441-6.

Ravel C, Chantot-Bastaraud S, El Houate B, Mandelbaum J, Siffroi JP, McElreavey K. GR/GR deletions within the azoospermia factor c region on the Y chromosome might not be associated with spermatogenic failure. Fertil Steril. 2006 85:229-31.

Ergun-Longmire B, Vinci G, Alonso L, Matthew S, Tansil S, Lin-Su K, McElreavey K, New MI. Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature. J Pediatr Endocrinol Metab. 2005 18:739-48.

McElreavey K, Wang W, Bittles AH. First Asian workshop on genomics and community genetics, Shenzhen, PR China, 10-22 April 2004. Community Genet. 2005;8:130-2.
Patsalis PC, Skordis N, Sismani C, Kousoulidou L, Koumbaris G, Eftychi C, Stavrides G, Ioulianos A, Kitsiou-Tzeli S, Galla-Voumvouraki A, Kosmaidou Z, Hadjiathanasiou CG, McElreavey K. Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability. Am J Med Genet A. 2005 135:145-9.

Vinci G, Raicu F, Popa L, Popa O, Cocos R, McElreavey K.Deletion of a novel heat shock gene on the Y chromosome associated with azoospermia. Mol Hum Reprod. 2005.