Saugier-Veber P - Search Results

1

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.

Bendavid C, Dubourg C, Gicquel I, Pasquier L, Saugier-Veber P, Durou MR, Jaillard S, Frébourg T, Haddad BR, Henry C, Odent S, David V. Bendavid C, et al. Hum Genet. 2006 Mar;119(1-2):1-8. doi: 10.1007/s00439-005-0097-6. Epub 2005 Dec 2. Hum Genet. 2006. PMID: 16323008

2

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

Deshwar AR, Cytrynbaum C, Murthy H, Zon J, Chitayat D, Volpatti J, Newbury-Ecob R, Ellard S, Allen HL, Yu EP, Noche R, Walker S, Scherer SW, Mahida S, Elitt CM, Nicolas G, Goldenberg A, Saugier-Veber P, Lecoquierre F, Dabaj I, Meddaugh H, Marble M, Keppler-Noreuil KM, Drayson L, Barañano KW, Chassevent A, Agre K, Létard P, Bilan F, Le Guyader G, Laquerrière A, Ramsey K, Henderson L, Brady L, Tarnopolsky M, Bainbridge M, Friedman J, Capri Y, Athayde L, Kok F, Gurgel-Giannetti J, Ramos LLP, Blaser S, Dowling JJ, Weksberg R. Deshwar AR, et al. Among authors: saugier veber p. Brain. 2023 Jun 1;146(6):2285-2297. doi: 10.1093/brain/awac461. Brain. 2023. PMID: 36477332

3

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

4

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

5

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

6

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

7

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.

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

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

10

Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations.

Le Caignec C, Boceno M, Saugier-Veber P, Jacquemont S, Joubert M, David A, Frebourg T, Rival JM. Le Caignec C, et al. J Med Genet. 2005 Feb;42(2):121-8. doi: 10.1136/jmg.2004.025478. J Med Genet. 2005. PMID: 15689449 Free PMC article.

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