Selected Publications (2007-2010)

(For full list see Pubmed)

1. Lourenço D, Brauner R, Rybczynska M, Nihoul-Fékété C, McElreavey K, Bashamboo A. A loss-of-function mutation in GATA4 causes anomalies of human testicular development. Proc Natl Acad Sci U S A (In Press).

2. 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. Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.Am J Hum Genet. 2010 Oct 8;87(4):505-12.

3. Bashamboo A, Ledig S, Wieacker P, Achermann JC, McElreavey K. New technologies for the identification of novel genetic markers of disorders of sex development (DSD). Sex Dev. 2010 Sep;4(4-5):213-24.

4. Bashamboo A, Ravel C, Brauner R, McElreavey K. [NR5A1 and ovarian failure] Med Sci (Paris). 2009 Oct;25(10):809-13. Review. French.

5. Ravel C, Chantot-Bastaraud S, Chalmey C, Barreiro L, Aknin-Seifer I, Pfeffer J, Berthaut I, Mathieu EE, Mandelbaum J, Siffroi JP, McElreavey K, Bashamboo A. Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts. PLoS One. 2009 Aug 6;4(8):e6540.

6. Imken L, Rouba H, El Houate B, Louanjli N, Barakat A, Chafik A, McElreavey K. Mutations in the protamine locus: association with spermatogenic failure? Mol Hum Reprod. 2009 Nov;15(11):733-8.

7. Vinci G, Brauner R, Tar A, Rouba H, Sheth J, Sheth F, Ravel C, McElreavey K, Bashamboo A. Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility. Fertil Steril. 2009 Oct;92(4):1347-50

8. Lourenço D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, Boudjenah R, Guerra-Junior G, Maciel-Guerra AT, Achermann JC, McElreavey K, Bashamboo A. Mutations in NR5A1 associated with ovarian insufficiency. N Engl J Med. 2009 Mar 19;360(12):1200-10.

9. Ravel C, Chantot-Bastaraud S, El Houate B, Rouba H, Legendre M, Lorenço D, Mandelbaum J, Siffroi JP, McElreavey K. Y-chromosome AZFc structural architecture and relationship to male fertility. Fertil Steril. 2009 Dec;92(6):1924-33.

10. Jéru I, Duquesnoy P, Fernandes-Alnemri T, Cochet E, Yu JW, Lackmy-Port-Lis M, Grimprel E, Landman-Parker J, Hentgen V, Marlin S, McElreavey K, Sarkisian T, Grateau G, Alnemri ES, Amselem S. Mutations in NALP12 cause hereditary periodic fever syndromes. Proc Natl Acad Sci U S A. 2008 Feb 5;105(5):1614-9.

11. Dumic M, Lin-Su K, Leibel NI, Ciglar S, Vinci G, Lasan R, Nimkarn S, Wilson JD, McElreavey K, New MI. 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;93(1):182-9.

12. 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 Sep;13(9):685-9.

13. Ravel C, Chantot-Bastaraud S, El Houate B, Berthaut I, Verstraete L, De Larouziere V, Lourenço 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 Jul;13(7):461-4.

14. El Houate B, Rouba H, Sibai H, Barakat A, Chafik A, Chadli el B, Imken L, Bogatcheva NV, Feng S, Agoulnik AI, McElreavey K. Novel mutations involving the INSL3 gene associated with cryptorchidism. J Urol. 2007 May;177(5):1947-51.