Gigarel N - Search Results

1

A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome.

Gilbert-Dussardier B, Bonneau D, Gigarel N, Le Merrer M, Bonnet D, Philip N, Serville F, Verloes A, Rossi A, Aymé S, et al. Gilbert-Dussardier B, et al. Among authors: gigarel n. Am J Hum Genet. 1995 Feb;56(2):542-4. Am J Hum Genet. 1995. PMID: 7847392 Free PMC article. No abstract available.

2

Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome.

Cormier-Daire V, Le Merrer M, Gigarel N, Morichon N, Prieur M, Lyonnet S, Vekemans M, Munnich A. Cormier-Daire V, et al. Among authors: gigarel n. Am J Med Genet. 1997 Mar 17;69(2):166-8. doi: 10.1002/(sici)1096-8628(19970317)69:2<166::aid-ajmg9>3.0.co;2-n. Am J Med Genet. 1997. PMID: 9056554

3

Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance.

Viot G, Lacombe D, David A, Mathieu M, de Broca A, Faivre L, Gigarel N, Munnich A, Lyonnet S, Le Merrer M, Cormier-Daire V. Viot G, et al. Among authors: gigarel n. Am J Med Genet. 2002 Jan 1;107(1):1-4. doi: 10.1002/ajmg.10028. Am J Med Genet. 2002. PMID: 11807859

4

Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome.

Pinson L, Augé J, Audollent S, Mattéi G, Etchevers H, Gigarel N, Razavi F, Lacombe D, Odent S, Le Merrer M, Amiel J, Munnich A, Meroni G, Lyonnet S, Vekemans M, Attié-Bitach T. Pinson L, et al. Among authors: gigarel n. J Med Genet. 2004 May;41(5):381-6. doi: 10.1136/jmg.2003.014829. J Med Genet. 2004. PMID: 15121778 Free PMC article. No abstract available.

5

Prenatal diagnosis of sporadic Apert syndrome: a sequential diagnostic approach combining three-dimensional computed tomography and molecular biology.

Mahieu-Caputo D, Sonigo P, Amiel J, Simon I, Aubry MC, Lemerrer M, Delezoïde AL, Gigarel N, Dommergues M, Dumez Y. Mahieu-Caputo D, et al. Among authors: gigarel n. Fetal Diagn Ther. 2001 Jan-Feb;16(1):10-2. doi: 10.1159/000053872. Fetal Diagn Ther. 2001. PMID: 11125244

6

Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.

Valnot I, Osmond S, Gigarel N, Mehaye B, Amiel J, Cormier-Daire V, Munnich A, Bonnefont JP, Rustin P, Rötig A. Valnot I, et al. Among authors: gigarel n. Am J Hum Genet. 2000 Nov;67(5):1104-9. doi: 10.1016/S0002-9297(07)62940-1. Epub 2000 Sep 28. Am J Hum Genet. 2000. PMID: 11013136 Free PMC article.

7

Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28.

Gigarel N, Frydman N, Burlet P, Kerbrat V, Steffann J, Frydman R, Munnich A, Ray PF. Gigarel N, et al. Hum Genet. 2004 Feb;114(3):298-305. doi: 10.1007/s00439-003-1063-9. Epub 2003 Dec 12. Hum Genet. 2004. PMID: 14673643

8

Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development.

Bouchet C, Steffann J, Corcos J, Monnot S, Paquis V, Rötig A, Lebon S, Levy P, Royer G, Giurgea I, Gigarel N, Benachi A, Dumez Y, Munnich A, Bonnefont JP. Bouchet C, et al. Among authors: gigarel n. J Med Genet. 2006 Oct;43(10):788-92. doi: 10.1136/jmg.2005.034140. Epub 2006 May 11. J Med Genet. 2006. PMID: 16690729 Free PMC article.

9

NDP gene mutations in 14 French families with Norrie disease.

Royer G, Hanein S, Raclin V, Gigarel N, Rozet JM, Munnich A, Steffann J, Dufier JL, Kaplan J, Bonnefont JP. Royer G, et al. Among authors: gigarel n. Hum Mutat. 2003 Dec;22(6):499. doi: 10.1002/humu.9204. Hum Mutat. 2003. PMID: 14635119

10

Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders.

Vachin P, Adda-Herzog E, Chalouhi G, Elie C, Rio M, Rondeau S, Gigarel N, Jabot Hanin F, Monnot S, Borghese R, Bengoa J, Ville Y, Rotig A, Munnich A, Bonnefont JP, Steffann J. Vachin P, et al. Among authors: gigarel n. J Med Genet. 2018 Feb;55(2):131-136. doi: 10.1136/jmedgenet-2017-104615. Epub 2017 Jul 28. J Med Genet. 2018. PMID: 28754700

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