Malzac P - Search Results

1

[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.

2

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

3

Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A.

Bernard R, Labelle V, Negre P, Tardieu S, Azulay JP, Malzac P, Mattéi JF, Leguern E, Philip N, Lévy N. Bernard R, et al. Among authors: malzac p. Eur J Hum Genet. 2000 Mar;8(3):229-35. doi: 10.1038/sj.ejhg.5200433. Eur J Hum Genet. 2000. PMID: 10780790

4

[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.

5

[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.

6

Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history.

Nguyen K, Putoux A, Busa T, Cordier MP, Sigaudy S, Till M, Chabrol B, Michel-Calemard L, Bernard R, Julia S, Malzac P, Labalme A, Missirian C, Edery P, Popovici C, Philip N, Sanlaville D. Nguyen K, et al. Among authors: malzac p. Clin Genet. 2015 May;87(5):488-91. doi: 10.1111/cge.12421. Epub 2014 Jul 21. Clin Genet. 2015. PMID: 24835530

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. 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

[Genetic tests in pediatrics].

Malzac P. Malzac P. Soins Pediatr Pueric. 2002 Oct;(208):20-2. Soins Pediatr Pueric. 2002. PMID: 12432623 French. No abstract available.

9

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.

10

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

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