Voelckel MA - Search Results

1

Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion.

Voelckel MA, Girardot L, Giusiano B, Levy N, Philip N. Voelckel MA, et al. Ann Genet. 2004 Jul-Sep;47(3):235-40. doi: 10.1016/j.anngen.2004.04.002. Ann Genet. 2004. PMID: 15337468

2

Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients.

Moncla A, Malzac P, Voelckel MA, Auquier P, Girardot L, Mattei MG, Philip N, Mattei JF, Lalande M, Livet MO. Moncla A, et al. Among authors: voelckel ma. Eur J Hum Genet. 1999 Feb-Mar;7(2):131-9. doi: 10.1038/sj.ejhg.5200258. Eur J Hum Genet. 1999. PMID: 10196695

3

Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family.

Chauve X, Missirian C, Malzac P, Girardot L, Guys JM, Louis C, Philip N, Voelckel MA. Chauve X, et al. Among authors: voelckel ma. Am J Med Genet. 2000 Nov 6;95(1):10-2. doi: 10.1002/1096-8628(20001106)95:1<10::aid-ajmg3>3.0.co;2-z. Am J Med Genet. 2000. PMID: 11074487

4

Fragile X syndrome and 22q11.2 microdeletion in the same sibship.

Missirian C, Moncla A, Voelckel MA, Ravix V, Philip N. Missirian C, et al. Among authors: voelckel ma. Am J Med Genet. 2000 Dec 11;95(4):358-60. Am J Med Genet. 2000. PMID: 11186890

5

[Molecular biology in genetic counseling of Duchenne and Becker myopathy].

Philip N, Voelckel MA, Girardot L, Lambert JC, Moncla A, Mattei JF, Giraud F. Philip N, et al. Among authors: voelckel ma. Pediatrie. 1992;47(12):821-8. Pediatrie. 1992. PMID: 1338927 French.

6

[Linkage studies in Emery-Dreifuss muscular dystrophy].

Paquis V, Philip N, Voelckel MA, Pouget J, Lemieux B, Mattei JF, Giraud F. Paquis V, et al. Among authors: voelckel ma. J Genet Hum. 1989 Jun;37(2):127-32. J Genet Hum. 1989. PMID: 2746171 French.

7

Atypical molecular findings identify limits of technical screening tests for Prader-Willi and Angelman syndrome diagnoses.

Malzac P, Moncla A, Pedeillier K, Vo Van C, Girardot L, Voelckel MA. Malzac P, et al. Among authors: voelckel ma. Am J Med Genet. 1998 Jul 7;78(3):242-4. doi: 10.1002/(sici)1096-8628(19980707)78:3<242::aid-ajmg6>3.0.co;2-r. Am J Med Genet. 1998. PMID: 9677058 No abstract available.

8

Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling.

Moncla A, Malzac P, Livet MO, Voelckel MA, Mancini J, Delaroziere JC, Philip N, Mattei JF. Moncla A, et al. Among authors: voelckel ma. J Med Genet. 1999 Jul;36(7):554-60. J Med Genet. 1999. PMID: 10424818 Free PMC article.

9

Dissociation between mental retardation and fragile site expression in a family with fragile X-linked mental retardation.

Voelckel MA, Mattei MG, N'Guyen C, Philip N, Birg F, Mattei JF. Voelckel MA, et al. Hum Genet. 1988 Dec;80(4):375-8. doi: 10.1007/BF00273654. Hum Genet. 1988. PMID: 2904402

10

Prader-Willi syndrome: diagnostic strategy with a cytogenetic and molecular approach.

Malzac P, Moncla A, Voelckel MA, Livet MO, Girardot L, Mattei MG, Mattei JF. Malzac P, et al. Among authors: voelckel ma. Neuromuscul Disord. 1993 Sep-Nov;3(5-6):493-6. doi: 10.1016/0960-8966(93)90103-q. Neuromuscul Disord. 1993. PMID: 7910502

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