Gérard-Blanluet M - Search Results

1

De novo subtelomeric deletion additional to an inherited apparently balanced reciprocal translocation.

Delahaye A, Pipiras E, Kanafani S, Touboul C, Vergnaud A, Encha-Razavi F, Sinico M, Benkhalifa M, Kasakyan S, Serero S, Wolf JP, Gérard-Blanluet M, Benzacken B. Delahaye A, et al. Fetal Diagn Ther. 2007;22(4):306-12. doi: 10.1159/000100797. Epub 2007 Mar 15. Fetal Diagn Ther. 2007. PMID: 17361086

2

Prenatal detection of Pierre Robin sequence with deletion Xp and additional trisomy 14q by telomere screening.

Gerard-Blanluet M, Pipiras E, Levaillant JM, Joye N, Koubi V, Kanafani S, Vergnaud A, Verloes A, Gonzales M, Jeny R, Benzacken B. Gerard-Blanluet M, et al. Prenat Diagn. 2007 Nov;27(11):1062-3. doi: 10.1002/pd.1818. Prenat Diagn. 2007. PMID: 17705236 No abstract available.

3

Prenatal forehead edema in 4p- deletion: the 'Greek warrior helmet' profile revisited.

Levaillant JM, Touboul C, Sinico M, Vergnaud A, Serero S, Druart L, Blondeau JR, Abd Alsamad I, Haddad B, Gérard-Blanluet M. Levaillant JM, et al. Prenat Diagn. 2005 Dec;25(12):1150-5. doi: 10.1002/pd.1246. Prenat Diagn. 2005. PMID: 16258951 Review.

4

Classical West "syndrome" phenotype with a subtelomeric 4p trisomy.

Gérard-Blanluet M, Romana S, Munier C, Le Lorc'h M, Kanafani S, Sinico M, Touboul C, Levaillant JM, Haddad B, Lopez N, Lelong F, De Villemeur TB, Verloes A, Borghi E. Gérard-Blanluet M, et al. Am J Med Genet A. 2004 Oct 15;130A(3):299-302. doi: 10.1002/ajmg.a.30314. Am J Med Genet A. 2004. PMID: 15378535

5

Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images.

Sinico M, Levaillant JM, Vergnaud A, Blondeau JR, Encha-Razavi F, Mornet E, Le Merrer M, Gerard-Blanluet M. Sinico M, et al. Prenat Diagn. 2007 Mar;27(3):222-7. doi: 10.1002/pd.1648. Prenat Diagn. 2007. PMID: 17238218

6

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.

Delahaye A, Bitoun P, Drunat S, Gérard-Blanluet M, Chassaing N, Toutain A, Verloes A, Gatelais F, Legendre M, Faivre L, Passemard S, Aboura A, Kaltenbach S, Quentin S, Dupont C, Tabet AC, Amselem S, Elion J, Gressens P, Pipiras E, Benzacken B. Delahaye A, et al. Among authors: gerard blanluet m. Eur J Hum Genet. 2012 May;20(5):527-33. doi: 10.1038/ejhg.2011.233. Epub 2012 Jan 11. Eur J Hum Genet. 2012. PMID: 22234157 Free PMC article.

7

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

Jaillard S, Dubourg C, Gérard-Blanluet M, Delahaye A, Pasquier L, Dupont C, Henry C, Tabet AC, Lucas J, Aboura A, David V, Benzacken B, Odent S, Pipiras E. Jaillard S, et al. J Med Genet. 2009 Dec;46(12):847-55. doi: 10.1136/jmg.2008.058156. Epub 2008 Sep 23. J Med Genet. 2009. PMID: 18812405 Free PMC article.

8

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome.

Bélien V, Gérard-Blanluet M, Serero S, Le Dû N, Baumann C, Jacquemont ML, Dupont C, Krabchi K, Drunat S, Elbez A, Janaud JC, Benzacken B, Verloes A, Tabet AC, Aboura A. Bélien V, et al. Am J Med Genet A. 2008 Jul 15;146A(14):1871-4. doi: 10.1002/ajmg.a.32392. Am J Med Genet A. 2008. PMID: 18553551

9

Giant omphalocele and "prune belly" sequence as components of the Beckwith-Wiedemann syndrome.

Sinico M, Touboul C, Haddad B, Encha-Razavi F, Paniel JB, Gicquel C, Gérard-Blanluet M. Sinico M, et al. Am J Med Genet A. 2004 Aug 30;129A(2):198-200. doi: 10.1002/ajmg.a.30129. Am J Med Genet A. 2004. PMID: 15316976

10

Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins.

Brémond-Gignac D, Gérard-Blanluet M, Copin H, Bitoun P, Baumann C, Crolla JA, Benzacken B, Verloes A. Brémond-Gignac D, et al. Am J Med Genet A. 2005 May 1;134(4):422-5. doi: 10.1002/ajmg.a.30646. Am J Med Genet A. 2005. PMID: 15779023

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