Saugier-Veber P - Search Results

1

Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.

Grotto S, Drouin-Garraud V, Ounap K, Puusepp-Benazzouz H, Schuurs-Hoeijmakers J, Le Meur N, Chambon P, Fehrenbach S, van Bokhoven H, Frébourg T, de Brouwer AP, Saugier-Veber P. Grotto S, et al. Eur J Med Genet. 2014 Apr;57(5):200-6. doi: 10.1016/j.ejmg.2013.12.012. Epub 2014 Jan 22. Eur J Med Genet. 2014. PMID: 24462886

2

Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy.

Costa-Roger M, Blasco-Pérez L, Gerin L, Codina-Solà M, Leno-Colorado J, Gómez-García De la Banda M, Garcia-Uzquiano R, Saugier-Veber P, Drunat S, Quijano-Roy S, Tizzano EF. Costa-Roger M, et al. Among authors: saugier veber p. Neurol Genet. 2024 Jul 16;10(4):e200175. doi: 10.1212/NXG.0000000000200175. eCollection 2024 Aug. Neurol Genet. 2024. PMID: 39035824 Free PMC article.

3

Lessons from prospective longitudinal follow-up of a French APECED cohort.

Humbert L, Proust-Lemoine E, Dubucquoi S, Kemp EH, Saugier-Veber P, Fabien N, Raymond-Top I, Cardot-Bauters C, Carel JC, Cartigny M, Chabre O, Chanson P, Delemer B, Do Cao C, Guignat L, Kahn JE, Kerlan V, Lefebvre H, Linglart A, Mallone R, Reynaud R, Sendid B, Souchon PF, Touraine P, Wémeau JL, Vantyghem MC. Humbert L, et al. Among authors: saugier veber p. J Clin Endocrinol Metab. 2024 Apr 12:dgae211. doi: 10.1210/clinem/dgae211. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 38605470 Free article.

4

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

5

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

6

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

7

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

8

Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method.

Saugier-Veber P, Drouot N, Lefebvre S, Charbonnier F, Vial E, Munnich A, Frébourg T. Saugier-Veber P, et al. J Med Genet. 2001 Apr;38(4):240-3. doi: 10.1136/jmg.38.4.240. J Med Genet. 2001. PMID: 11368028 Free PMC article. No abstract available.

9

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.

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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