Philip N - Search Results

1

Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations.

Giuliano F, David A, Edery P, Sigaudy S, Bonneau D, Cormier-Daire V, Philip N. Giuliano F, et al. Among authors: philip n. Am J Med Genet A. 2004 Apr 1;126A(1):99-103. doi: 10.1002/ajmg.a.20551. Am J Med Genet A. 2004. PMID: 15039980

2

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases.

Philip N, Meinecke P, David A, Dean J, Ayme S, Clark R, Gross-Kieselstein E, Hosenfeld D, Moncla A, Muller D, et al. Philip N, et al. Clin Dysmorphol. 1992 Apr;1(2):63-77. Clin Dysmorphol. 1992. PMID: 1285376

3

Cerebrofaciothoracic dysplasia: a new family.

Philip N, Guala A, Moncla A, Monlouis M, Aymé S, Giraud F. Philip N, et al. J Med Genet. 1992 Jul;29(7):497-9. J Med Genet. 1992. PMID: 1640432 Free PMC article.

4

Fryns syndrome: report on 8 new cases.

Aymé S, Julian C, Gambarelli D, Mariotti B, Luciani A, Sudan N, Maurin N, Philip N, Serville F, Carles D, et al. Aymé S, et al. Among authors: philip n. Clin Genet. 1989 Mar;35(3):191-201. doi: 10.1111/j.1399-0004.1989.tb02927.x. Clin Genet. 1989. PMID: 2650934 Review.

5

A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome.

Gilbert-Dussardier B, Bonneau D, Gigarel N, Le Merrer M, Bonnet D, Philip N, Serville F, Verloes A, Rossi A, Aymé S, et al. Gilbert-Dussardier B, et al. Among authors: philip n. Am J Hum Genet. 1995 Feb;56(2):542-4. Am J Hum Genet. 1995. PMID: 7847392 Free PMC article. No abstract available.

6

Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.

Souied E, Gerber S, Rozet JM, Bonneau D, Dufier JL, Ghazi I, Philip N, Soubrane G, Coscas G, Munnich A, et al. Souied E, et al. Among authors: philip n. Hum Mol Genet. 1994 Aug;3(8):1433-4. doi: 10.1093/hmg/3.8.1433. Hum Mol Genet. 1994. PMID: 7987331 No abstract available.

7

Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome.

Philip N, Andrac L, Moncla A, Sigaudy S, Zanon N, Lena G, Choux M. Philip N, et al. Clin Dysmorphol. 1995 Oct;4(4):347-51. doi: 10.1097/00019605-199510000-00011. Clin Dysmorphol. 1995. PMID: 8574426

8

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.

9

Increased paternal age in CHARGE association.

Tellier AL, Lyonnet S, Cormier-Daire V, de Lonlay P, Abadie V, Baumann C, Bonneau D, Labrune P, Lacombe D, Le Merrer M, Nivelon A, Philip N, Briard ML, Munnich A. Tellier AL, et al. Among authors: philip n. Clin Genet. 1996 Dec;50(6):548-50. doi: 10.1111/j.1399-0004.1996.tb02736.x. Clin Genet. 1996. PMID: 9147897

10

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

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