Saugier-Veber P - Search Results

1

Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.

Saugier-Veber P, Bonnet C, Afenjar A, Drouin-Garraud V, Coubes C, Fehrenbach S, Holder-Espinasse M, Roume J, Malan V, Portnoi MF, Jeanne N, Baumann C, Héron D, David A, Gérard M, Bonneau D, Lacombe D, Cormier-Daire V, Billette de Villemeur T, Frébourg T, Bürglen L. Saugier-Veber P, et al. Hum Mutat. 2007 Nov;28(11):1098-107. doi: 10.1002/humu.20568. Hum Mutat. 2007. PMID: 17565729

2

Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.

Dumanchin C, Camuzat A, Campion D, Verpillat P, Hannequin D, Dubois B, Saugier-Veber P, Martin C, Penet C, Charbonnier F, Agid Y, Frebourg T, Brice A. Dumanchin C, et al. Hum Mol Genet. 1998 Oct;7(11):1825-9. doi: 10.1093/hmg/7.11.1825. Hum Mol Genet. 1998. PMID: 9736786

3

Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.

Saugier-Veber P, Martin C, Le Meur N, Lyonnet S, Munnich A, David A, Hénocq A, Héron D, Jonveaux P, Odent S, Manouvrier S, Moncla A, Morichon N, Philip N, Satge D, Tosi M, Frébourg T. Saugier-Veber P, et al. Hum Mutat. 1998;12(4):259-66. doi: 10.1002/(SICI)1098-1004(1998)12:4<259::AID-HUMU7>3.0.CO;2-A. Hum Mutat. 1998. PMID: 9744477

4

Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

Saugier-Veber P, Drouot N, Wolf LM, Kuhn JM, Frébourg T, Lefebvre H. Saugier-Veber P, et al. Eur J Endocrinol. 2001 Apr;144(4):347-51. doi: 10.1530/eje.0.1440347. Eur J Endocrinol. 2001. PMID: 11275943

5

Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

Drouin-Garraud V, Belgrand M, Grünewald S, Seta N, Dacher JN, Hénocq A, Matthijs G, Cormier-Daire V, Frébourg T, Saugier-Veber P. Drouin-Garraud V, et al. Am J Med Genet. 2001 Jun 1;101(1):46-9. doi: 10.1002/ajmg.1298. Am J Med Genet. 2001. PMID: 11343337

6

Prenatal diagnosis of hydrocephalus-stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases.

Senat MV, Bernard JP, Delezoide A, Saugier-Veber P, Hillion Y, Roume J, Ville Y. Senat MV, et al. Prenat Diagn. 2001 Dec;21(13):1129-32. doi: 10.1002/pd.184. Prenat Diagn. 2001. PMID: 11787037

7

X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings.

Bonneau D, Toutain A, Laquerrière A, Marret S, Saugier-Veber P, Barthez MA, Radi S, Biran-Mucignat V, Rodriguez D, Gélot A. Bonneau D, et al. Ann Neurol. 2002 Mar;51(3):340-9. doi: 10.1002/ana.10119. Ann Neurol. 2002. PMID: 11891829

8

The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene.

Jacquet H, Berthelot J, Bonnemains C, Simard G, Saugier-Veber P, Raux G, Campion D, Bonneau D, Frebourg T. Jacquet H, et al. J Med Genet. 2003 Jan;40(1):e7. doi: 10.1136/jmg.40.1.e7. J Med Genet. 2003. PMID: 12525555 Free PMC article. No abstract available.

9

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.

Kato M, Das S, Petras K, Kitamura K, Morohashi KI, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB. Kato M, et al. Hum Mutat. 2004 Feb;23(2):147-159. doi: 10.1002/humu.10310. Hum Mutat. 2004. PMID: 14722918

10

Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome.

Le Meur N, Martin C, Saugier-Veber P, Joly G, Lemoine F, Moirot H, Rossi A, Bachy B, Cabot A, Joly P, Frébourg T. Le Meur N, et al. Eur J Hum Genet. 2004 May;12(5):415-8. doi: 10.1038/sj.ejhg.5201155. Eur J Hum Genet. 2004. PMID: 14970844

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