Philip N - Search Results

1

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.

Bal E, Park HS, Belaid-Choucair Z, Kayserili H, Naville M, Madrange M, Chiticariu E, Hadj-Rabia S, Cagnard N, Kuonen F, Bachmann D, Huber M, Le Gall C, Côté F, Hanein S, Rosti RÖ, Aslanger AD, Waisfisz Q, Bodemer C, Hermine O, Morice-Picard F, Labeille B, Caux F, Mazereeuw-Hautier J, Philip N, Levy N, Taieb A, Avril MF, Headon DJ, Gyapay G, Magnaldo T, Fraitag S, Crollius HR, Vabres P, Hohl D, Munnich A, Smahi A. Bal E, et al. Among authors: philip n. Nat Med. 2017 Oct;23(10):1226-1233. doi: 10.1038/nm.4368. Epub 2017 Sep 4. Nat Med. 2017. PMID: 28869610 Free article.

2

Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders.

Bernard R, Boyer A, Nègre P, Malzac P, Latour P, Vandenberghe A, Philip N, Lévy N. Bernard R, et al. Among authors: philip n. Eur J Hum Genet. 2002 May;10(5):297-302. doi: 10.1038/sj.ejhg.5200804. Eur J Hum Genet. 2002. PMID: 12082504

3

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

Badens C, Lacoste C, Philip N, Martini N, Courrier S, Giuliano F, Verloes A, Munnich A, Leheup B, Burglen L, Odent S, Van Esch H, Levy N. Badens C, et al. Among authors: philip n. Clin Genet. 2006 Jul;70(1):57-62. doi: 10.1111/j.1399-0004.2006.00641.x. Clin Genet. 2006. PMID: 16813605

4

A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene.

Ambrosi P, Kreitmann B, Lepidi H, Habib G, Levy N, Philip N, De Sandre-Giovannoli A. Ambrosi P, et al. Among authors: philip n. Int J Cardiol. 2016 Apr 15;209:317-8. doi: 10.1016/j.ijcard.2016.02.113. Epub 2016 Feb 16. Int J Cardiol. 2016. PMID: 26922292 No abstract available.

5

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.

Bessis D, Miquel J, Bourrat E, Chiaverini C, Morice-Picard F, Abadie C, Manna F, Baumann C, Best M, Blanchet P, Bursztejn AC, Capri Y, Coubes C, Giuliano F, Guillaumont S, Hadj-Rabia S, Jacquemont ML, Jeandel C, Lacombe D, Mallet S, Mazereeuw-Hautier J, Molinari N, Pallure V, Pernet C, Philip N, Pinson L, Sarda P, Sigaudy S, Vial Y, Willems M, Geneviève D, Verloes A, Cavé H. Bessis D, et al. Among authors: philip n. Br J Dermatol. 2019 Jun;180(6):1438-1448. doi: 10.1111/bjd.17404. Epub 2019 Jan 18. Br J Dermatol. 2019. PMID: 30417923

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

Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A.

Bernard R, Labelle V, Negre P, Tardieu S, Azulay JP, Malzac P, Mattéi JF, Leguern E, Philip N, Lévy N. Bernard R, et al. Among authors: philip n. Eur J Hum Genet. 2000 Mar;8(3):229-35. doi: 10.1038/sj.ejhg.5200433. Eur J Hum Genet. 2000. PMID: 10780790

8

[Congenital hypotrichosis and milia with spontaneous regression during adolescence or Oley syndrome: a variant of Bazex-Dupré-Christol syndrome].

Andreani V, Richard M, Folchetti G, Varennes S, Philip N, Grob JJ. Andreani V, et al. Among authors: philip n. Ann Dermatol Venereol. 2000 Mar;127(3):285-8. Ann Dermatol Venereol. 2000. PMID: 10804303 French.

9

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.

Trochet D, Bourdeaut F, Janoueix-Lerosey I, Deville A, de Pontual L, Schleiermacher G, Coze C, Philip N, Frébourg T, Munnich A, Lyonnet S, Delattre O, Amiel J. Trochet D, et al. Among authors: philip n. Am J Hum Genet. 2004 Apr;74(4):761-4. doi: 10.1086/383253. Epub 2004 Mar 11. Am J Hum Genet. 2004. PMID: 15024693 Free PMC article.

10

Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion.

Voelckel MA, Girardot L, Giusiano B, Levy N, Philip N. Voelckel MA, et al. Among authors: philip n. Ann Genet. 2004 Jul-Sep;47(3):235-40. doi: 10.1016/j.anngen.2004.04.002. Ann Genet. 2004. PMID: 15337468

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