Moncla A - Search Results

1

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. Among authors: moncla a. Am J Hum Genet. 1998 Jun;62(6):1353-60. doi: 10.1086/301877. Am J Hum Genet. 1998. PMID: 9585605 Free PMC article.

2

[Angelman syndrome].

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

3

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

4

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

5

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. Among authors: moncla a. Eur J Hum Genet. 1996;4(1):8-12. doi: 10.1159/000472163. Eur J Hum Genet. 1996. PMID: 8800930

6

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: moncla a. 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.

7

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

8

Clinical heterogeneity in 16 patients with inv dup 15 chromosome: cytogenetic and molecular studies, search for an imprinting effect.

Mignon C, Malzac P, Moncla A, Depetris D, Roeckel N, Croquette MF, Mattei MG. Mignon C, et al. Among authors: moncla a. Eur J Hum Genet. 1996;4(2):88-100. doi: 10.1159/000472176. Eur J Hum Genet. 1996. PMID: 8744026

9

Angelman syndrome 2005: updated consensus for diagnostic criteria.

Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA, Wagstaff J. Williams CA, et al. Among authors: moncla a. Am J Med Genet A. 2006 Mar 1;140(5):413-8. doi: 10.1002/ajmg.a.31074. Am J Med Genet A. 2006. PMID: 16470747

10

[Smith-Magenis syndrome].

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

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