Chabrol B - Search Results

1

Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families.

Chabrol B, Girard N, N'Guyen K, Gérard A, Carlier M, Villard L, Philip N. Chabrol B, et al. Am J Med Genet A. 2005 Nov 1;138(4):314-7. doi: 10.1002/ajmg.a.30882. Am J Med Genet A. 2005. PMID: 16158428

2

Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy.

Mancini J, Philip N, Chabrol B, Divry P, Rolland MO, Pinsard N. Mancini J, et al. Among authors: chabrol b. Pediatr Neurol. 1993 May-Jun;9(3):243-6. doi: 10.1016/0887-8994(93)90095-t. Pediatr Neurol. 1993. PMID: 8352861

3

Oral-facial-digital syndrome with retinal abnormalities: report of a new case.

Sigaudy S, Philip N, Gire C, Chabrol B. Sigaudy S, et al. Among authors: chabrol b. Am J Med Genet. 1996 Jan 11;61(2):193-4. doi: 10.1002/ajmg.1320610204. Am J Med Genet. 1996. PMID: 8669453 No abstract available.

4

Ischemic cerebrovascular disease in children: retrospective study of 35 patients.

Mancini J, Girard N, Chabrol B, Lamoureux S, Livet MO, Thuret I, Pinsard N. Mancini J, et al. Among authors: chabrol b. J Child Neurol. 1997 Apr;12(3):193-9. doi: 10.1177/088307389701200308. J Child Neurol. 1997. PMID: 9130094

5

Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain.

Chabrol B, Sigaudy S, Paquis V, Montfort MF, Giudicelli H, Pellissier JF, Millet V, Mancini J, Philip N. Chabrol B, et al. Am J Med Genet. 1997 Oct 17;72(2):222-6. doi: 10.1002/(sici)1096-8628(19971017)72:2<222::aid-ajmg18>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9382147

6

[Genetics of agenesis of the corpus callosum].

Philip N, Chabrol B, Lethel V. Philip N, et al. Among authors: chabrol b. Neurochirurgie. 1998 May;44(1 Suppl):99-101. Neurochirurgie. 1998. PMID: 9757330 Review. French.

7

[Clinical approach to mental retardation of genetic origin].

Livet MO, Moncla A, Philip N, Chabrol B, Mancini J. Livet MO, et al. Among authors: chabrol b. Rev Neurol (Paris). 1999 Sep;155(8):593-5. Rev Neurol (Paris). 1999. PMID: 10486850 Review. French.

8

Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28.

Villard L, des Portes V, Levy N, Louboutin JP, Recan D, Coquet M, Chabrol B, Figarella-Branger D, Chelly J, Pellissier JF, Fontes M. Villard L, et al. Among authors: chabrol b. Eur J Hum Genet. 2000 Feb;8(2):125-9. doi: 10.1038/sj.ejhg.5200432. Eur J Hum Genet. 2000. PMID: 10757644

9

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.

de Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM, Journel H, Kretz M, Laurent J, Le Merrer M, Leroy A, Pedespan D, Sarda P, Villeneuve N, Schmitz J, van Schaftingen E, Matthijs G, Jaeken J, Korner C, Munnich A, Saudubray JM, Cormier-Daire V. de Lonlay P, et al. Among authors: chabrol b. J Med Genet. 2001 Jan;38(1):14-9. doi: 10.1136/jmg.38.1.14. J Med Genet. 2001. PMID: 11134235 Free PMC article.

10

Mevalonic aciduria and hyper-IgD syndrome: two sides of the same coin?

Tsimaratos M, Kone-Paut I, Divry P, Philip N, Chabrol B. Tsimaratos M, et al. Among authors: chabrol b. J Inherit Metab Dis. 2001 Jun;24(3):413-4. doi: 10.1023/a:1010577207726. J Inherit Metab Dis. 2001. PMID: 11486910 No abstract available.

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