Philip N - Search Results

1

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.

Grelet M, Blanck V, Sigaudy S, Philip N, Giuliano F, Khachnaoui K, Morel G, Grotto S, Sophie J, Poirsier C, Lespinasse J, Alric L, Calvas P, Chalhoub G, Layet V, Molin A, Colson C, Marsili L, Edery P, Lévy N, De Sandre-Giovannoli A. Grelet M, et al. Among authors: philip n. Orphanet J Rare Dis. 2019 Dec 11;14(1):288. doi: 10.1186/s13023-019-1189-z. Orphanet J Rare Dis. 2019. PMID: 31829210 Free PMC article.

2

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

3

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.

4

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

5

Prenatal ultrasonographic findings in Proteus syndrome.

Sigaudy S, Fredouille C, Gambarelli D, Potier A, Cassin D, Piquet C, Philip N. Sigaudy S, et al. Among authors: philip n. Prenat Diagn. 1998 Oct;18(10):1091-4. Prenat Diagn. 1998. PMID: 9826904

6

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

7

Prenatal diagnosis of Pierre-Robin sequence as part of Stickler syndrome.

Soulier M, Sigaudy S, Chau C, Philip N. Soulier M, et al. Among authors: philip n. Prenat Diagn. 2002 Jul;22(7):567-8. doi: 10.1002/pd.369. Prenat Diagn. 2002. PMID: 12124689

8

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

9

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

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

585 results

Search Page

Filters