Cabrol S - Search Results

1

Perrault syndrome: report of four new cases, review and exclusion of candidate genes.

Marlin S, Lacombe D, Jonard L, Leboulanger N, Bonneau D, Goizet C, de Villemeur TB, Cabrol S, Houang M, Moatti L, Feldmann D, Denoyelle F. Marlin S, et al. Among authors: cabrol s. Am J Med Genet A. 2008 Mar 1;146A(5):661-4. doi: 10.1002/ajmg.a.32180. Am J Med Genet A. 2008. PMID: 18241061

2

[Physiopathology of the somatotropin axis in chronic renal insufficiency].

Cabrol S, Houang M, Le Bouc Y. Cabrol S, et al. Arch Pediatr. 1998;5 Suppl 4:348S-353S. doi: 10.1016/s0929-693x(99)80189-4. Arch Pediatr. 1998. PMID: 9853082 Review. French.

3

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.

Gicquel C, Rossignol S, Cabrol S, Houang M, Steunou V, Barbu V, Danton F, Thibaud N, Le Merrer M, Burglen L, Bertrand AM, Netchine I, Le Bouc Y. Gicquel C, et al. Among authors: cabrol s. Nat Genet. 2005 Sep;37(9):1003-7. doi: 10.1038/ng1629. Epub 2005 Aug 7. Nat Genet. 2005. PMID: 16086014

4

11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations.

Netchine I, Rossignol S, Dufourg MN, Azzi S, Rousseau A, Perin L, Houang M, Steunou V, Esteva B, Thibaud N, Demay MC, Danton F, Petriczko E, Bertrand AM, Heinrichs C, Carel JC, Loeuille GA, Pinto G, Jacquemont ML, Gicquel C, Cabrol S, Le Bouc Y. Netchine I, et al. Among authors: cabrol s. J Clin Endocrinol Metab. 2007 Aug;92(8):3148-54. doi: 10.1210/jc.2007-0354. Epub 2007 May 15. J Clin Endocrinol Metab. 2007. PMID: 17504900

5

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome with renal failure: impact of posttransplant immunosuppression on disease activity.

Ulinski T, Perrin L, Morris M, Houang M, Cabrol S, Grapin C, Chabbert-Buffet N, Bensman A, Deschênes G, Giurgea I. Ulinski T, et al. Among authors: cabrol s. J Clin Endocrinol Metab. 2006 Jan;91(1):192-5. doi: 10.1210/jc.2005-1538. Epub 2005 Nov 1. J Clin Endocrinol Metab. 2006. PMID: 16263818

6

Insulin-like growth factor-I (IGF-I), insulin-like growth factor binding proteins (IGFBP) and insulin-like growth factor type I receptor in children with various status of chronic renal failure.

Houang M, Cabrol S, Perin L, Ducos B, Bensman A, Le Bouc Y. Houang M, et al. Among authors: cabrol s. Growth Horm IGF Res. 2000 Dec;10(6):332-41. doi: 10.1054/ghir.2000.0178. Growth Horm IGF Res. 2000. PMID: 11161964

7

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

Marcos S, Sarfati J, Leroy C, Fouveaut C, Parent P, Metz C, Wolczynski S, Gérard M, Bieth E, Kurtz F, Verier-Mine O, Perrin L, Archambeaud F, Cabrol S, Rodien P, Hove H, Prescott T, Lacombe D, Christin-Maitre S, Touraine P, Hieronimus S, Dewailly D, Young J, Pugeat M, Hardelin JP, Dodé C. Marcos S, et al. Among authors: cabrol s. J Clin Endocrinol Metab. 2014 Oct;99(10):E2138-43. doi: 10.1210/jc.2014-2110. Epub 2014 Jul 31. J Clin Endocrinol Metab. 2014. PMID: 25077900

8

IGF type 1 receptor ligand binding characteristics are altered in a subgroup of children with intrauterine growth retardation.

Ducos B, Cabrol S, Houang M, Perin L, Holzenberger M, Le Bouc Y. Ducos B, et al. Among authors: cabrol s. J Clin Endocrinol Metab. 2001 Nov;86(11):5516-24. doi: 10.1210/jcem.86.11.7985. J Clin Endocrinol Metab. 2001. PMID: 11701730 Clinical Trial.

9

Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling.

Portnoï MF, Chantot-Bastaraud S, Christin-Maitre S, Carbonne B, Beaujard MP, Keren B, Lévy J, Dommergues M, Cabrol S, Hyon C, Siffroi JP. Portnoï MF, et al. Among authors: cabrol s. Eur J Med Genet. 2012 Nov;55(11):635-40. doi: 10.1016/j.ejmg.2012.07.001. Epub 2012 Jul 15. Eur J Med Genet. 2012. PMID: 22809487

10

Molecular diagnosis of Turner's syndrome.

Gicquel C, Cabrol S, Schneid H, Girard F, Le Bouc Y. Gicquel C, et al. Among authors: cabrol s. J Med Genet. 1992 Aug;29(8):547-51. doi: 10.1136/jmg.29.8.547. J Med Genet. 1992. PMID: 1355559 Free PMC article.

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