Philip N - Search Results

1

New insights into genotype-phenotype correlation for GLI3 mutations.

Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue MA, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, André G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont ML, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet ML, Cormier-Daire V, Devisme L, Geneviève D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T. Démurger F, et al. Among authors: philip n. Eur J Hum Genet. 2015 Jan;23(1):92-102. doi: 10.1038/ejhg.2014.62. Epub 2014 Apr 16. Eur J Hum Genet. 2015. PMID: 24736735 Free PMC article.

2

Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes.

Melki J, Abdelhak S, Burlet P, Raclin V, Kaplan J, Spiegel R, Gilgenkrantz S, Philip N, Chauvet ML, Dumez Y, et al. Melki J, et al. Among authors: philip n. J Med Genet. 1992 Mar;29(3):171-4. doi: 10.1136/jmg.29.3.171. J Med Genet. 1992. PMID: 1348092 Free PMC article.

3

Physical mapping of an Xq-proximal interstitial duplication in a male.

Muscatelli F, Verna JM, Philip N, Moncla A, Mattei MG, Mattei JF, Fontes M. Muscatelli F, et al. Among authors: philip n. Hum Genet. 1992 Mar;88(6):691-4. doi: 10.1007/BF02265299. Hum Genet. 1992. PMID: 1551675

4

Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

Verloes A, Aymé S, Gambarelli D, Gonzales M, Le Merrer M, Mulliez N, Philip N, Roume J. Verloes A, et al. Among authors: philip n. J Med Genet. 1991 May;28(5):297-303. doi: 10.1136/jmg.28.5.297. J Med Genet. 1991. PMID: 1865466 Free PMC article. Review.

5

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.

6

Trisomy 21q223 and Down's phenotype correlation evidenced by in situ hybridization.

Pellissier MC, Laffage M, Philip N, Passage E, Mattei MG, Mattei JF. Pellissier MC, et al. Among authors: philip n. Hum Genet. 1988 Nov;80(3):277-81. doi: 10.1007/BF01790097. Hum Genet. 1988. PMID: 2973430

7

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.

8

[Microdeletion of the chromosome 22q11 in children: apropos of a series of 49 patients].

Levy-Mozziconacci A, Lacombe D, Leheup B, Wernert F, Rouault F, Philip N. Levy-Mozziconacci A, et al. Among authors: philip n. Arch Pediatr. 1996 Aug;3(8):761-8. doi: 10.1016/0929-693x(96)82157-9. Arch Pediatr. 1996. PMID: 8998528 French.

9

Idiopathic thrombocytopenic purpura in two mothers of children with DiGeorge sequence: a new component manifestation of deletion 22q11?

Lévy A, Michel G, Lemerrer M, Philip N. Lévy A, et al. Among authors: philip n. Am J Med Genet. 1997 Apr 14;69(4):356-9. doi: 10.1002/(sici)1096-8628(19970414)69:4<356::aid-ajmg4>3.0.co;2-j. Am J Med Genet. 1997. PMID: 9098482

10

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

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