Saugier-Veber P - Search Results

1

Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations.

Coursimault J, Lecoquierre F, Saugier-Veber P, Drouin-Garraud V, Lechevallier J, Boland A, Deleuze JF, Frebourg T, Nicolas G, Brehin AC. Coursimault J, et al. Eur J Med Genet. 2021 Apr;64(4):104166. doi: 10.1016/j.ejmg.2021.104166. Epub 2021 Feb 9. Eur J Med Genet. 2021. PMID: 33571694

2

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

3

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

4

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.

5

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.

6

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

7

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.

8

Molecular characterization of a 14q deletion in a boy with features of Holt-Oram syndrome.

Le Meur N, Goldenberg A, Michel-Adde C, Drouin-Garraud V, Blaysat G, Marret S, Amara SA, Moirot H, Joly-Hélas G, Mace B, Kleinfinger P, Saugier-Veber P, Frébourg T, Rossi A. Le Meur N, et al. Am J Med Genet A. 2005 May 1;134(4):439-42. doi: 10.1002/ajmg.a.30660. Am J Med Genet A. 2005. PMID: 15810003

9

Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation.

Faivre L, Saugier-Veber P, Pais de Barros JP, Verges B, Couret B, Lorcerie B, Thauvin C, Charbonnier F, Huet F, Gambert P, Frebourg T, Duvillard L. Faivre L, et al. Eur J Hum Genet. 2005 Nov;13(11):1186-91. doi: 10.1038/sj.ejhg.5201480. Eur J Hum Genet. 2005. PMID: 16094309

10

Cardiac conduction alterations in a French family with amyloidosis of the Finnish type with the p.Asp187Tyr mutation in the GSN gene.

Chastan N, Baert-Desurmont S, Saugier-Veber P, Dérumeaux G, Cabot A, Frébourg T, Hannequin D. Chastan N, et al. Muscle Nerve. 2006 Jan;33(1):113-9. doi: 10.1002/mus.20448. Muscle Nerve. 2006. PMID: 16258946

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