Malzac P - Search Results

1

Cortical myoclonus in Angelman syndrome.

Guerrini R, De Lorey TM, Bonanni P, Moncla A, Dravet C, Suisse G, Livet MO, Bureau M, Malzac P, Genton P, Thomas P, Sartucci F, Simi P, Serratosa JM. Guerrini R, et al. Among authors: malzac p. Ann Neurol. 1996 Jul;40(1):39-48. doi: 10.1002/ana.410400109. Ann Neurol. 1996. PMID: 8687190

2

[Angelman syndrome].

Moncla A, Livet MO, Malzac P, Voelckel MA, Mattei MG, Mattei JF, Giraud F. Moncla A, et al. Among authors: malzac p. Arch Pediatr. 1994 Dec;1(12):1118-26. Arch Pediatr. 1994. PMID: 7849899 Review. French.

3

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: malzac p. J Med Genet. 1999 Jul;36(7):554-60. J Med Genet. 1999. PMID: 10424818 Free PMC article.

4

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: malzac p. Eur J Hum Genet. 1999 Feb-Mar;7(2):131-9. doi: 10.1038/sj.ejhg.5200258. Eur J Hum Genet. 1999. PMID: 10196695

5

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. Neuromuscul Disord. 1993 Sep-Nov;3(5-6):493-6. doi: 10.1016/0960-8966(93)90103-q. Neuromuscul Disord. 1993. PMID: 7910502

6

Mutation analysis of UBE3A in Angelman syndrome patients.

Malzac P, Webber H, Moncla A, Graham JM, Kukolich M, Williams C, Pagon RA, Ramsdell LA, Kishino T, Wagstaff J. Malzac P, et al. Am J Hum Genet. 1998 Jun;62(6):1353-60. doi: 10.1086/301877. Am J Hum Genet. 1998. PMID: 9585605 Free PMC article.

7

[Smith-Magenis syndrome].

Lacombe D, Moncla A, Malzac P, Mattei MG, Battin J. Lacombe D, et al. Among authors: malzac p. Arch Pediatr. 1997 May;4(5):438-42. doi: 10.1016/s0929-693x(97)86671-7. Arch Pediatr. 1997. PMID: 9230994 French.

8

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. 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.

9

The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region.

Jay P, Rougeulle C, Massacrier A, Moncla A, Mattei MG, Malzac P, Roëckel N, Taviaux S, Lefranc JL, Cau P, Berta P, Lalande M, Muscatelli F. Jay P, et al. Among authors: malzac p. Nat Genet. 1997 Nov;17(3):357-61. doi: 10.1038/ng1197-357. Nat Genet. 1997. PMID: 9354807

10

Unexpected inheritance of the (CGG)n trinucleotide expansion in a fragile X syndrome family.

Malzac P, Biancalana V, Voelckel MA, Moncla A, Pellissier MC, Boccaccio I, Mattei JF. Malzac P, et al. Eur J Hum Genet. 1996;4(1):8-12. doi: 10.1159/000472163. Eur J Hum Genet. 1996. PMID: 8800930

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