Philibert P - Search Results

1

Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell-Free DNA in Fibrous Dysplasia and McCune-Albright Syndrome.

Romanet P, Philibert P, Fina F, Cuny T, Roche C, Ouafik L, Paris F, Reynaud R, Barlier A. Romanet P, et al. Among authors: philibert p. J Pediatr. 2019 Feb;205:281-285.e4. doi: 10.1016/j.jpeds.2018.09.070. Epub 2018 Nov 13. J Pediatr. 2019. PMID: 30442414

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

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.

4

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.

5

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

6

Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations.

Philibert P, Audran F, Pienkowski C, Morange I, Kohler B, Flori E, Heinrich C, Dacou-Voutetakis C, Joseph MG, Guedj AM, Journel H, Hecart-Bruna AC, Khotchali I, Ten S, Bouchard P, Paris F, Sultan C. Philibert P, et al. Fertil Steril. 2010 Jul;94(2):472-6. doi: 10.1016/j.fertnstert.2009.03.057. Epub 2009 May 21. Fertil Steril. 2010. PMID: 19463997 Free article.

7

Isolated Cushing's syndrome: an unusual presentation of McCune-Albright syndrome in the neonatal period.

Paris F, Philibert P, Lumbroso S, Servant N, Kalfa N, Sultan C. Paris F, et al. Among authors: philibert p. Horm Res. 2009;72(5):315-9. doi: 10.1159/000245934. Epub 2009 Oct 19. Horm Res. 2009. PMID: 19844118

8

Unusual phenotypical variations in a boy with McCune-Albright syndrome.

Mamkin I, Philibert P, Anhalt H, Ten S, Sultan C. Mamkin I, et al. Among authors: philibert p. Horm Res Paediatr. 2010;73(3):215-22. doi: 10.1159/000284365. Epub 2010 Mar 3. Horm Res Paediatr. 2010. PMID: 20197676

9

Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration.

Philibert P, Leprieur E, Zenaty D, Thibaud E, Polak M, Frances AM, Lespinasse J, Raingeard I, Servant N, Audran F, Paris F, Sultan C. Philibert P, et al. Reprod Biol Endocrinol. 2010 Mar 19;8:28. doi: 10.1186/1477-7827-8-28. Reprod Biol Endocrinol. 2010. PMID: 20302644 Free PMC article.

10

Isolated micropenis reveals partial androgen insensitivity syndrome confirmed by molecular analysis.

Bhangoo A, Paris F, Philibert P, Audran F, Ten S, Sultan C. Bhangoo A, et al. Among authors: philibert p. Asian J Androl. 2010 Jul;12(4):561-6. doi: 10.1038/aja.2010.6. Epub 2010 Mar 22. Asian J Androl. 2010. PMID: 20305676 Free PMC article.

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