Philibert P - Search Results

1

Undervirilization in XY newborns may hide a 5α-reductase deficiency: report of three new SRD5A2 gene mutations.

Maimoun L, Philibert P, Cammas B, Audran F, Pienkowski C, Kurtz F, Heinrich C, Cartigny M, Sultan C. Maimoun L, et al. Among authors: philibert p. Int J Androl. 2010 Dec;33(6):841-7. doi: 10.1111/j.1365-2605.2009.01036.x. Int J Androl. 2010. PMID: 20132346

2

Searching for somatic mutations in McCune-Albright syndrome: a comparative study of the peptidic nucleic acid versus the nested PCR method based on 148 DNA samples.

Kalfa N, Philibert P, Audran F, Ecochard A, Hannon T, Lumbroso S, Sultan C. Kalfa N, et al. Among authors: philibert p. Eur J Endocrinol. 2006 Dec;155(6):839-43. doi: 10.1530/eje.1.02301. Eur J Endocrinol. 2006. PMID: 17132753

3

Extinction of FOXL2 expression in aggressive ovarian granulosa cell tumors in children.

Kalfa N, Philibert P, Patte C, Ecochard A, Duvillard P, Baldet P, Jaubert F, Fellous M, Sultan C. Kalfa N, et al. Among authors: philibert p. Fertil Steril. 2007 Apr;87(4):896-901. doi: 10.1016/j.fertnstert.2006.11.016. Fertil Steril. 2007. PMID: 17430735 Free article.

4

Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation.

Paris F, Philibert P, Lumbroso S, Baldet P, Charvet JP, Galifer RB, Sultan C. Paris F, et al. Among authors: philibert p. Fertil Steril. 2007 Nov;88(5):1437.e21-5. doi: 10.1016/j.fertnstert.2007.01.048. Epub 2007 May 10. Fertil Steril. 2007. PMID: 17493621 Free article.

5

A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family.

Decaestecker K, Philibert P, De Baere E, Hoebeke P, Kaufman JM, Sultan C, T'Sjoen G. Decaestecker K, et al. Among authors: philibert p. Fertil Steril. 2008 May;89(5):1260.e3-1260.e7. doi: 10.1016/j.fertnstert.2007.04.057. Epub 2007 Aug 21. Fertil Steril. 2008. PMID: 17714709 Free article.

6

Primary amenorrhea in a young Polish woman with complete androgen insensitivity syndrome and Sertoli-Leydig cell tumor: identification of a new androgen receptor gene mutation and evidence of aromatase hyperactivity and apoptosis dysregulation within the tumor.

Jarzabek K, Philibert P, Koda M, Sulkowski S, Kotula-Balak M, Bilinska B, Kottler ML, Wolczynski S, Sultan C. Jarzabek K, et al. Among authors: philibert p. Gynecol Endocrinol. 2007 Sep;23(9):499-504. doi: 10.1080/09513590701553852. Gynecol Endocrinol. 2007. PMID: 17852420

7

Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.

Philibert P, Zenaty D, Lin L, Soskin S, Audran F, Léger J, Achermann JC, Sultan C. Philibert P, et al. Hum Reprod. 2007 Dec;22(12):3255-61. doi: 10.1093/humrep/dem278. Epub 2007 Oct 16. Hum Reprod. 2007. PMID: 17940071 Free PMC article.

8

Molecular diagnosis of 5alpha-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism.

Eunice M, Philibert P, Kulshreshtha B, Audran F, Paris F, Khurana ML, Pulikkanath PE, Kucheria K, Sultan C, Ammini AC. Eunice M, et al. Among authors: philibert p. Asian J Androl. 2008 Sep;10(5):815-8. doi: 10.1111/j.1745-7262.2008.00350.x. Epub 2007 Dec 20. Asian J Androl. 2008. PMID: 18097518 Free article.

9

Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study.

Philibert P, Biason-Lauber A, Rouzier R, Pienkowski C, Paris F, Konrad D, Schoenle E, Sultan C. Philibert P, et al. J Clin Endocrinol Metab. 2008 Mar;93(3):895-900. doi: 10.1210/jc.2007-2023. Epub 2008 Jan 8. J Clin Endocrinol Metab. 2008. PMID: 18182450

10

Is hypospadias a genetic, endocrine or environmental disease, or still an unexplained malformation?

Kalfa N, Philibert P, Sultan C. Kalfa N, et al. Among authors: philibert p. Int J Androl. 2009 Jun;32(3):187-97. doi: 10.1111/j.1365-2605.2008.00899.x. Epub 2008 Jul 11. Int J Androl. 2009. PMID: 18637150 Review.

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