Malzac P - Search Results

1

Case report of apoptosis in testis of four AZFc-deleted patients: increased DNA fragmentation during meiosis, but decreased apoptotic markers in post-meiotic germ cells.

Streichemberger E, Perrin J, Saias-Magnan J, Karsenty G, Malzac P, Grillo JM, Mitchell MJ, Metzler-Guillemain C. Streichemberger E, et al. Among authors: malzac p. Hum Reprod. 2012 Jul;27(7):1939-45. doi: 10.1093/humrep/des128. Epub 2012 Apr 16. Hum Reprod. 2012. PMID: 22508792

2

A balanced complex chromosomal rearrangement (BCCR) in a family with reproductive failure.

Lespinasse J, North MO, Paravy C, Brunel MJ, Malzac P, Blouin JL. Lespinasse J, et al. Among authors: malzac p. Hum Reprod. 2003 Oct;18(10):2058-66. doi: 10.1093/humrep/deg424. Hum Reprod. 2003. PMID: 14507821

3

Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders.

Bernard R, Boyer A, Nègre P, Malzac P, Latour P, Vandenberghe A, Philip N, Lévy N. Bernard R, et al. Among authors: malzac p. Eur J Hum Genet. 2002 May;10(5):297-302. doi: 10.1038/sj.ejhg.5200804. Eur J Hum Genet. 2002. PMID: 12082504

4

[Next-generation DNA sequencing in clinical diagnostics].

Lacoste C, Fabre A, Pécheux C, Lévy N, Krahn M, Malzac P, Bonello-Palot N, Badens C, Bourgeois P. Lacoste C, et al. Among authors: malzac p. Arch Pediatr. 2017 Apr;24(4):373-383. doi: 10.1016/j.arcped.2017.01.008. Epub 2017 Feb 24. Arch Pediatr. 2017. PMID: 28242148 Review. French.

5

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: malzac p. Eur J Hum Genet. 1996;4(2):88-100. doi: 10.1159/000472176. Eur J Hum Genet. 1996. PMID: 8744026

6

Chromosomal localization of the human and mouse histidine decarboxylase genes by in situ hybridization. Exclusion of the HDC gene from the Prader-Willi syndrome region.

Malzac P, Mattei MG, Thibault J, Bruneau G. Malzac P, et al. Hum Genet. 1996 Mar;97(3):359-61. doi: 10.1007/BF02185772. Hum Genet. 1996. PMID: 8786082

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

8

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

9

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.

10

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.

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