Philip N - Search Results

1

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. Among authors: philip n. 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

2

Costello syndrome.

Philip N, Sigaudy S. Philip N, et al. J Med Genet. 1998 Mar;35(3):238-40. doi: 10.1136/jmg.35.3.238. J Med Genet. 1998. PMID: 9541110 Free PMC article. Review.

3

Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.

Sigaudy S, Toutain A, Moncla A, Fredouille C, Bourlière B, Ayme S, Philip N. Sigaudy S, et al. Among authors: philip n. Am J Med Genet. 1998 Oct 30;80(1):16-24. Am J Med Genet. 1998. PMID: 9800907 Review.

4

MCA/MR syndrome with hypocholesterolemia related to familial dominant hypobetalipoproteinemia.

Nguyen K, Sigaudy S, Philip N. Nguyen K, et al. Among authors: philip n. Am J Med Genet A. 2003 Aug 30;121A(2):109-12. doi: 10.1002/ajmg.a.20186. Am J Med Genet A. 2003. PMID: 12910487

5

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. Among authors: n guyen k, philip n. 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

6

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: philip n. 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.

7

Neonatal death in Marshall-Smith syndrome.

Chatel C, Maazoul F, Sigaudy S, Fredouille C, Ayme S, Philip N. Chatel C, et al. Among authors: philip n. Genet Couns. 1998;9(1):15-8. Genet Couns. 1998. PMID: 9555581

8

Congenital bowing of the long bones in two fetuses presenting features of Stüve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2.

Sigaudy S, Moncla A, Fredouille C, Bourlière B, Lambert JC, Philip N. Sigaudy S, et al. Among authors: philip n. Clin Dysmorphol. 1998 Oct;7(4):257-62. doi: 10.1097/00019605-199810000-00004. Clin Dysmorphol. 1998. PMID: 9823491

9

Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling.

Moncla A, Malzac P, Livet MO, Voelckel MA, Mancini J, Delaroziere JC, Philip N, Mattei JF. Moncla A, et al. Among authors: philip n. J Med Genet. 1999 Jul;36(7):554-60. J Med Genet. 1999. PMID: 10424818 Free PMC article.

10

Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation.

Philip N, Colleaux L, Sigaudy S, Attié-Bitach T, Missirian C, Moncla A, Mattei MG, Bollini G. Philip N, et al. Am J Med Genet A. 2005 Apr 1;134A(1):39-44. doi: 10.1002/ajmg.a.30468. Am J Med Genet A. 2005. PMID: 15732060

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