Gérard-Blanluet M - Search Results

1

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

2

Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension.

Gérard B, Ginet N, Matthijs G, Evrard P, Baumann C, Da Silva F, Gérard-Blanluet M, Mayer M, Grandchamp B, Elion J. Gérard B, et al. Hum Mutat. 2000 Sep;16(3):253-63. doi: 10.1002/1098-1004(200009)16:3<253::AID-HUMU8>3.0.CO;2-8. Hum Mutat. 2000. PMID: 10980532

3

Mosaic trisomy 15 and hemihypertrophy.

Gérard-Blanluet M, Elbez A, Bazin A, Danan C, Verloes A, Janaud JC. Gérard-Blanluet M, et al. Ann Genet. 2001 Jul-Sep;44(3):143-8. doi: 10.1016/s0003-3995(01)01080-2. Ann Genet. 2001. PMID: 11694227

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

Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males.

Gérard-Blanluet M, Sheen V, Machinis K, Neal J, Apse K, Danan C, Sinico M, Brugières P, Mage K, Ratsimbazafy L, Elbez A, Janaud JC, Amselem S, Walsh C, Encha-Razavi F. Gérard-Blanluet M, et al. Am J Med Genet A. 2006 May 15;140(10):1041-6. doi: 10.1002/ajmg.a.31197. Am J Med Genet A. 2006. PMID: 16596669

6

Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family.

Deffert C, Niel F, Mochel F, Barrey C, Romana C, Souied E, Stoetzel C, Goossens M, Dollfus H, Verloes A, Girodon E, Gerard-Blanluet M. Deffert C, et al. Am J Med Genet A. 2007 Jan 15;143A(2):208-13. doi: 10.1002/ajmg.a.31585. Am J Med Genet A. 2007. PMID: 17163542 No abstract available.

7

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

8

CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.

Keren B, Suzuki OT, Gérard-Blanluet M, Brémond-Gignac D, Elmaleh M, Titomanlio L, Delezoide AL, Passos-Bueno MR, Verloes A. Keren B, et al. Am J Med Genet A. 2007 Jul 1;143A(13):1514-8. doi: 10.1002/ajmg.a.31784. Am J Med Genet A. 2007. PMID: 17546652 No abstract available.

9

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.

10

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

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