Lacombe D - Search Results

1

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N'Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, Convers P, Maillart E, Guyant-Marechal L, Hannequin D, Fromager G, Afenjar A, Chantot-Bastaraud S, Valence S, Charles P, Berquin P, Rooryck C, Bouron J, Brice A, Lacombe D, Rossignol R, Stevanin G, Benard G, Burglen L, Durr A, Goizet C, Coupry I. Pilliod J, et al. Among authors: lacombe d. Ann Neurol. 2015 Dec;78(6):871-86. doi: 10.1002/ana.24509. Epub 2015 Nov 14. Ann Neurol. 2015. PMID: 26288984

2

W syndrome: report of three cases and review.

Goizet C, Bonneau D, Lacombe D. Goizet C, et al. Among authors: lacombe d. Am J Med Genet. 1999 Dec 22;87(5):446-9. Am J Med Genet. 1999. PMID: 10594887 Review.

3

[Williams syndrome (microdeletion 7q11.23), model of behavioral phenotype].

Battin J, Lacombe D, Taine L, Goizet C. Battin J, et al. Among authors: lacombe d. Bull Acad Natl Med. 2000;184(1):105-15; discussion 115-6. Bull Acad Natl Med. 2000. PMID: 10989534 French.

4

Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation.

Goizet C, Catargi B, Tison F, Tullio-Pelet A, Hadj-Rabia S, Pujol F, Lagueny A, Lyonnet S, Lacombe D. Goizet C, et al. Among authors: lacombe d. Neurology. 2002 Mar 26;58(6):962-5. doi: 10.1212/wnl.58.6.962. Neurology. 2002. PMID: 11914417

5

A patient with hydranencephaly and PEHO-like dysmorphic features.

Goizet C, Espil-Taris C, Husson M, Chateil JF, Pedespan JM, Lacombe D. Goizet C, et al. Among authors: lacombe d. Ann Genet. 2003 Jan-Mar;46(1):25-8. doi: 10.1016/s0003-3995(03)00003-0. Ann Genet. 2003. PMID: 12818526

6

Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy.

Goizet C, Coupry I, Rooryck C, Taine L, Dormoy V, Lacombe D, Arveiler B. Goizet C, et al. Among authors: lacombe d. Eur J Hum Genet. 2004 Mar;12(3):245-50. doi: 10.1038/sj.ejhg.5201128. Eur J Hum Genet. 2004. PMID: 14722582

7

[Hereditary neuralgic amyotrophy: a paediatric and familial presentation of Parsonage-Turner syndrome].

Husson M, Goizet C, Rivera S, Lacombe D, Pedespan JM. Husson M, et al. Among authors: lacombe d. Arch Pediatr. 2004 Nov;11(11):1336-8. doi: 10.1016/j.arcped.2004.06.023. Arch Pediatr. 2004. PMID: 15519832 French.

8

Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.

Brémond-Gignac D, Crolla JA, Copin H, Guichet A, Bonneau D, Taine L, Lacombe D, Baumann C, Benzacken B, Verloes A. Brémond-Gignac D, et al. Among authors: lacombe d. Eur J Hum Genet. 2005 Apr;13(4):409-13. doi: 10.1038/sj.ejhg.5201358. Eur J Hum Genet. 2005. PMID: 15702131

9

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. Among authors: lacombe d. Hum Mutat. 2007 Nov;28(11):1098-107. doi: 10.1002/humu.20568. Hum Mutat. 2007. PMID: 17565729

10

Bardet-biedl syndrome and brain abnormalities.

Rooryck C, Pelras S, Chateil JF, Cances C, Arveiler B, Verloes A, Lacombe D, Goizet C. Rooryck C, et al. Among authors: lacombe d. Neuropediatrics. 2007 Feb;38(1):5-9. doi: 10.1055/s-2007-981466. Neuropediatrics. 2007. PMID: 17607597

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