Gerard-Blanluet M - Search Results

1

CEMARA: a Web dynamic application within a N-tier architecture for rare diseases.

Messiaen C, Le Mignot L, Rath A, Richard JB, Dufour E, Ben Said M, Jais JP, Verloes A, Le Merrer M, Bodemer C, Baujat G, Gerard-Blanluet M, Bourdon-Lanoy E, Salomon R, Ayme S, Landais P. Messiaen C, et al. Stud Health Technol Inform. 2008;136:51-6. Stud Health Technol Inform. 2008. PMID: 18487707

2

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.

3

CEMARA an information system for rare diseases.

Landais P, Messiaen C, Rath A, Le Mignot L, Dufour E, Ben Said M, Jais JP, Toubiana L, Baujat G, Bourdon-Lanoy E, Gérard-Blanluet M, Bodemer C, Salomon R, Aymé S, Le Merrer M, Verloes A; CEMARA task force. Landais P, et al. Among authors: gerard blanluet m. Stud Health Technol Inform. 2010;160(Pt 1):481-5. Stud Health Technol Inform. 2010. PMID: 20841733

4

Aphallia, lung agenesis and multiple defects of blastogenesis.

Gérard-Blanluet M, Lambert V, Khung-Savatovsky S, Perrin-Sabourin L, Passemard S, Baumann C, Delezoide AL, Verloes A. Gérard-Blanluet M, et al. Fetal Pediatr Pathol. 2011;30(1):22-6. doi: 10.3109/15513815.2010.494698. Fetal Pediatr Pathol. 2011. PMID: 21204662

5

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

6

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

7

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

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

Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency.

Gerard-Blanluet M, Port-Lis M, Baumann C, Perrin-Sabourin L, Ebrad P, Audry G, Delezoide AL, Verloes A. Gerard-Blanluet M, et al. Am J Med Genet A. 2010 Nov;152A(11):2870-4. doi: 10.1002/ajmg.a.33708. Am J Med Genet A. 2010. PMID: 20949627

10

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.

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