Attia-Sobol J - Search Results

1

Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations.

Aguilella C, Dubourg C, Attia-Sobol J, Vigneron J, Blayau M, Pasquier L, Lazaro L, Odent S, David V. Aguilella C, et al. Among authors: attia sobol j. Hum Genet. 2003 Feb;112(2):131-4. doi: 10.1007/s00439-002-0862-8. Epub 2002 Nov 21. Hum Genet. 2003. PMID: 12522553

2

Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families.

Lesca G, Eymard-Pierre E, Santorelli FM, Cusmai R, Di Capua M, Valente EM, Attia-Sobol J, Plauchu H, Leuzzi V, Ponzone A, Boespflug-Tanguy O, Bertini E. Lesca G, et al. Among authors: attia sobol j. Neurology. 2003 Feb 25;60(4):674-82. doi: 10.1212/01.wnl.0000048207.28790.25. Neurology. 2003. PMID: 12601111

3

Lissencephaly type III, stippled epiphyses and loose, thick skin: a new recessively inherited syndrome.

Plauchu H, Encha-Razavi F, Hermier M, Attia-Sobol J, Vitrey D, Verloes A. Plauchu H, et al. Am J Med Genet. 2001 Feb 15;99(1):14-20. doi: 10.1002/1096-8628(20010215)99:1<14::aid-ajmg1121>3.0.co;2-s. Am J Med Genet. 2001. PMID: 11170088

4

Clinical and genetic heterogeneity of Seckel syndrome.

Faivre L, Le Merrer M, Lyonnet S, Plauchu H, Dagoneau N, Campos-Xavier AB, Attia-Sobol J, Verloes A, Munnich A, Cormier-Daire V. Faivre L, et al. Among authors: attia sobol j. Am J Med Genet. 2002 Nov 1;112(4):379-83. doi: 10.1002/ajmg.10677. Am J Med Genet. 2002. PMID: 12376940

5

The spectrum of type III lissencephaly: a clinicopathological update.

Allias F, Buenerd A, Bouvier R, Attia-Sobol J, Dijoud F, Clémenson A, Encha-Razavi F. Allias F, et al. Among authors: attia sobol j. Fetal Pediatr Pathol. 2004 Sep-Dec;23(5-6):305-17. doi: 10.1080/15227950490952488. Fetal Pediatr Pathol. 2004. PMID: 16137167

6

First prenatal diagnosis of partial trisomy 10 and partial monosomy 15 derived from a maternal translocation (10;15)(q11;q13).

Martin-Denavit T, Attia-Sobol J, Theuil J, Abel-Lablanche K, Boggio D, Teyssier M, Till M, Champion F, Vitrey D, Plauchu H. Martin-Denavit T, et al. Among authors: attia sobol j. Prenat Diagn. 2002 Jun;22(6):487-9. doi: 10.1002/pd.343. Prenat Diagn. 2002. PMID: 12116308 No abstract available.

7

Orofaciodigital syndrome with cerebral dysgenesis.

Lesca G, Fallet-Bianco C, Plauchu H, Vitrey D, Verloes A, Attia-Sobol J. Lesca G, et al. Among authors: attia sobol j. Am J Med Genet A. 2006 Apr 1;140(7):757-63. doi: 10.1002/ajmg.a.31144. Am J Med Genet A. 2006. PMID: 16502430

8

Ectodermal abnormalities associated with methimazole intrauterine exposure.

Martin-Denavit T, Edery P, Plauchu H, Attia-Sobol J, Raudrant D, Aurand JM, Thomas L. Martin-Denavit T, et al. Am J Med Genet. 2000 Oct 2;94(4):338-40. doi: 10.1002/1096-8628(20001002)94:4<338::aid-ajmg13>3.0.co;2-6. Am J Med Genet. 2000. PMID: 11038449 No abstract available.

9

Hypermobility type of Ehlers-Danlos syndrome: influence of pregnancies.

Golfier F, Peyrol S, Attia-Sobol J, Marret H, Raudrant D, Plauchu H. Golfier F, et al. Among authors: attia sobol j. Clin Genet. 2001 Sep;60(3):240-1. doi: 10.1034/j.1399-0004.2001.600312.x. Clin Genet. 2001. PMID: 11595028 No abstract available.

10

Campomelic acampomelic dysplasia presenting with increased nuchal translucency in the first trimester.

Michel-Calemard L, Lesca G, Morel Y, Boggio D, Plauchu H, Attia-Sobol J. Michel-Calemard L, et al. Among authors: attia sobol j. Prenat Diagn. 2004 Jul;24(7):519-23. doi: 10.1002/pd.935. Prenat Diagn. 2004. PMID: 15300742

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