Goizet C - Search Results

1

PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1.

Bonnemason-Carrere P, Morice-Picard F, Pennamen P, Arveiler B, Fergelot P, Goizet C, Hellegouarch M, Lacombe D, Plaisant C, Raclet V, Rooryck C, Lasseaux E, Trimouille A. Bonnemason-Carrere P, et al. Among authors: goizet c. Am J Med Genet A. 2019 Jun;179(6):1030-1033. doi: 10.1002/ajmg.a.61127. Epub 2019 Mar 23. Am J Med Genet A. 2019. PMID: 30903679 Review.

2

18p monosomy with midline defects and a de novo satellite identified by FISH.

Taine L, Goizet C, Wen ZQ, Chateil JF, Battin J, Saura R, Lacombe D. Taine L, et al. Among authors: goizet c. Ann Genet. 1997;40(3):158-63. Ann Genet. 1997. PMID: 9401105

3

[Does germinal chromosomal mosaicism exist?].

Goizet C, Taine L, Wen ZQ, Horovitz J, Lacombe D, Saura R. Goizet C, et al. J Gynecol Obstet Biol Reprod (Paris). 1997;26(3 Suppl):133-5. J Gynecol Obstet Biol Reprod (Paris). 1997. PMID: 9471442 French. No abstract available.

4

Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.

Taine L, Goizet C, Wen ZQ, Petrij F, Breuning MH, Aymé S, Saura R, Arveiler B, Lacombe D. Taine L, et al. Among authors: goizet c. Am J Med Genet. 1998 Jul 7;78(3):267-70. Am J Med Genet. 1998. PMID: 9677064

5

W syndrome: report of three cases and review.

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

6

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

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

7

Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH.

Goizet C, Excoffier E, Taine L, Taupiac E, El Moneim AA, Arveiler B, Bouvard M, Lacombe D. Goizet C, et al. Am J Med Genet. 2000 Dec 4;96(6):839-44. Am J Med Genet. 2000. PMID: 11121193 Review.

8

Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion.

Coupry I, Taine L, Goizet C, Soriano C, Mortemousque B, Arveiler B, Lacombe D. Coupry I, et al. Among authors: goizet c. J Med Genet. 2001 Jan;38(1):35-8. doi: 10.1136/jmg.38.1.35. J Med Genet. 2001. PMID: 11134238 Free PMC article.

9

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. Neurology. 2002 Mar 26;58(6):962-5. doi: 10.1212/wnl.58.6.962. Neurology. 2002. PMID: 11914417

10

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. Ann Genet. 2003 Jan-Mar;46(1):25-8. doi: 10.1016/s0003-3995(03)00003-0. Ann Genet. 2003. PMID: 12818526

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