Philippi A - Search Results

1

Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.

Verdura E, Hervé D, Scharrer E, Amador Mdel M, Guyant-Maréchal L, Philippi A, Corlobé A, Bergametti F, Gazal S, Prieto-Morin C, Beaufort N, Le Bail B, Viakhireva I, Dichgans M, Chabriat H, Haffner C, Tournier-Lasserve E. Verdura E, et al. Among authors: philippi a. Brain. 2015 Aug;138(Pt 8):2347-58. doi: 10.1093/brain/awv155. Epub 2015 Jun 10. Brain. 2015. PMID: 26063658

2

Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia.

Hervé D, Philippi A, Belbouab R, Zerah M, Chabrier S, Collardeau-Frachon S, Bergametti F, Essongue A, Berrou E, Krivosic V, Sainte-Rose C, Houdart E, Adam F, Billiemaz K, Lebret M, Roman S, Passemard S, Boulday G, Delaforge A, Guey S, Dray X, Chabriat H, Brouckaert P, Bryckaert M, Tournier-Lasserve E. Hervé D, et al. Among authors: philippi a. Am J Hum Genet. 2014 Mar 6;94(3):385-94. doi: 10.1016/j.ajhg.2014.01.018. Epub 2014 Feb 27. Am J Hum Genet. 2014. PMID: 24581742 Free PMC article.

3

A missense mutation in the glucagon receptor gene is associated with non-insulin-dependent diabetes mellitus.

Hager J, Hansen L, Vaisse C, Vionnet N, Philippi A, Poller W, Velho G, Carcassi C, Contu L, Julier C, et al. Hager J, et al. Among authors: philippi a. Nat Genet. 1995 Mar;9(3):299-304. doi: 10.1038/ng0395-299. Nat Genet. 1995. PMID: 7773293

4

dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure.

Dos Santos RS, Daures M, Philippi A, Romero S, Marselli L, Marchetti P, Senée V, Bacq D, Besse C, Baz B, Marroquí L, Ivanoff S, Masliah-Planchon J, Nicolino M, Soulier J, Socié G, Eizirik DL, Gautier JF, Julier C. Dos Santos RS, et al. Among authors: philippi a. Diabetes. 2017 Apr;66(4):1086-1096. doi: 10.2337/db16-0839. Epub 2017 Jan 10. Diabetes. 2017. PMID: 28073829

5

Juvenile-Onset Diabetes and Congenital Cataract: "Double-Gene" Mutations Mimicking a Syndromic Diabetes Presentation.

Lenfant C, Baz P, Degavre A, Philippi A, Senée V, Vandiedonck C, Derbois C, Nicolino M, Zalloua P, Julier C. Lenfant C, et al. Among authors: philippi a. Genes (Basel). 2017 Nov 7;8(11):309. doi: 10.3390/genes8110309. Genes (Basel). 2017. PMID: 29112131 Free PMC article.

6

Linkage analyses of the MODY3 locus on chromosome 12q with late-onset NIDDM.

Lesage S, Hani EH, Philippi A, Vaxillaire M, Hager J, Passa P, Demenais F, Froguel P, Vionnet N. Lesage S, et al. Among authors: philippi a. Diabetes. 1995 Oct;44(10):1243-7. doi: 10.2337/diab.44.10.1243. Diabetes. 1995. PMID: 7556965

7

A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q.

Vaxillaire M, Boccio V, Philippi A, Vigouroux C, Terwilliger J, Passa P, Beckmann JS, Velho G, Lathrop GM, Froguel P. Vaxillaire M, et al. Among authors: philippi a. Nat Genet. 1995 Apr;9(4):418-23. doi: 10.1038/ng0495-418. Nat Genet. 1995. PMID: 7795649

8

Candidate gene approach of familial morbid obesity: linkage analysis of the glucocorticoid receptor gene.

Clément K, Philippi A, Jury C, Pividal R, Hager J, Demenais F, Basdevant A, Guy-Grand B, Froguel P. Clément K, et al. Among authors: philippi a. Int J Obes Relat Metab Disord. 1996 Jun;20(6):507-12. Int J Obes Relat Metab Disord. 1996. PMID: 8782725

9

Indication for genetic linkage of the phosphoenolpyruvate carboxykinase (PCK1) gene region on chromosome 20q to non-insulin-dependent diabetes mellitus.

Hani EH, Zouali H, Philippi A, Beaudoin JC, Vionnet N, Passa P, Demenais F, Froguel P. Hani EH, et al. Among authors: philippi a. Diabetes Metab. 1996 Dec;22(6):451-4. Diabetes Metab. 1996. PMID: 8985654

10

Genetic studies of the sulfonylurea receptor gene locus in NIDDM and in morbid obesity among French Caucasians.

Hani EH, Clément K, Velho G, Vionnet N, Hager J, Philippi A, Dina C, Inoue H, Permutt MA, Basdevant A, North M, Demenais F, Guy-Grand B, Froguel P. Hani EH, et al. Among authors: philippi a. Diabetes. 1997 Apr;46(4):688-94. doi: 10.2337/diab.46.4.688. Diabetes. 1997. PMID: 9075812

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