Delobel B - Search Results

1

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.

Vibert R, Mignot C, Keren B, Chantot-Bastaraud S, Portnoï MF, Nouguès MC, Moutard ML, Faudet A, Whalen S, Haye D, Garel C, Chatron N, Rossi M, Vincent-Delorme C, Boute O, Delobel B, Andrieux J, Devillard F, Coutton C, Puechberty J, Pebrel-Richard C, Colson C, Gerard M, Missirian C, Sigaudy S, Busa T, Doco-Fenzy M, Malan V, Rio M, Doray B, Sanlaville D, Siffroi JP, Héron D, Heide S. Vibert R, et al. Among authors: delobel b. Clin Genet. 2022 Mar;101(3):307-316. doi: 10.1111/cge.14096. Epub 2021 Dec 15. Clin Genet. 2022. PMID: 34866188

2

Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.

Stavropoulou C, Mignon C, Delobel B, Moncla A, Depetris D, Croquette MF, Mattei MG. Stavropoulou C, et al. Among authors: delobel b. J Med Genet. 1998 Nov;35(11):932-8. doi: 10.1136/jmg.35.11.932. J Med Genet. 1998. PMID: 9832041 Free PMC article.

3

Deletion of chromosome 4p detected by FISH in a girl with normal high resolution karyotype.

Manouvrier S, Boute O, Viot G, Delobel B. Manouvrier S, et al. Among authors: delobel b. Clin Genet. 1999 Feb;55(2):127-9. doi: 10.1034/j.1399-0004.1999.550210.x. Clin Genet. 1999. PMID: 10189091 No abstract available.

4

Familial occurrence of thymoma and autoimmune diseases with the constitutional translocation t(14;20)(q24.1;p12.3).

Nicodème F, Geffroy S, Conti M, Delobel B, Soenen V, Grardel N, Porte H, Copin MC, Laï JL, Andrieux J. Nicodème F, et al. Among authors: delobel b. Genes Chromosomes Cancer. 2005 Oct;44(2):154-60. doi: 10.1002/gcc.20225. Genes Chromosomes Cancer. 2005. PMID: 15942943

5

Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations.

Mignon-Ravix C, Depetris D, Luciani JJ, Cuoco C, Krajewska-Walasek M, Missirian C, Collignon P, Delobel B, Croquette MF, Moncla A, Kroisel PM, Mattei MG. Mignon-Ravix C, et al. Among authors: delobel b. Eur J Hum Genet. 2007 Apr;15(4):432-40. doi: 10.1038/sj.ejhg.5201775. Epub 2007 Jan 31. Eur J Hum Genet. 2007. PMID: 17264869

6

Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions.

Andrieux J, Villenet C, Quief S, Lignon S, Geffroy S, Roumier C, de Leersnyder H, de Blois MC, Manouvrier S, Delobel B, Benzacken B, Bitoun P, Attie-Bitach T, Thomas S, Lyonnet S, Vekemans M, Kerckaert JP. Andrieux J, et al. Among authors: delobel b. J Med Genet. 2007 Aug;44(8):537-40. doi: 10.1136/jmg.2006.048736. Epub 2007 Apr 27. J Med Genet. 2007. PMID: 17468296 Free PMC article.

7

Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome.

Cano A, Rouzier C, Monnot S, Chabrol B, Conrath J, Lecomte P, Delobel B, Boileau P, Valero R, Procaccio V, Paquis-Flucklinger V; French Group of Wolfram Syndrome; Vialettes B. Cano A, et al. Among authors: delobel b. Am J Med Genet A. 2007 Jul 15;143A(14):1605-12. doi: 10.1002/ajmg.a.31809. Am J Med Genet A. 2007. PMID: 17568405

8

A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis.

Andrieux J, Cuvellier JC, Duban-Bedu B, Joriot-Chekaf S, Dieux-Coeslier A, Manouvrier-Hanu S, Delobel B, Vallee L. Andrieux J, et al. Among authors: delobel b. Eur J Med Genet. 2008 Jan-Feb;51(1):87-91. doi: 10.1016/j.ejmg.2007.10.004. Epub 2007 Oct 22. Eur J Med Genet. 2008. PMID: 18053786

9

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array.

Andrieux J, Lepretre F, Cuisset JM, Goldenberg A, Delobel B, Manouvrier-Hanu S, Holder-Espinasse M. Andrieux J, et al. Among authors: delobel b. Eur J Med Genet. 2008 Mar-Apr;51(2):172-7. doi: 10.1016/j.ejmg.2007.12.002. Epub 2008 Jan 14. Eur J Med Genet. 2008. PMID: 18222743

10

Characterization by array-CGH of an interstitial de novo tandem 6p21.2p22.1 duplication in a boy with epilepsy and developmental delay.

Andrieux J, Richebourg S, Duban-Bedu B, Petit F, Leprêtre F, Sukno S, Dehouck MB, Delobel B. Andrieux J, et al. Among authors: delobel b. Eur J Med Genet. 2008 Jul-Aug;51(4):373-81. doi: 10.1016/j.ejmg.2008.02.010. Epub 2008 Mar 28. Eur J Med Genet. 2008. PMID: 18463015

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