Jonveaux P - Search Results

1

Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study.

Ravel JM, Renaud M, Muller J, Becker A, Renard É, Remen T, Lefort G, Dexheimer M, Jonveaux P, Leheup B, Bonnet C, Lambert L. Ravel JM, et al. Among authors: jonveaux p. Genome Med. 2023 May 23;15(1):39. doi: 10.1186/s13073-023-01191-6. Genome Med. 2023. PMID: 37221613 Free PMC article.

2

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.

Becker A, Felici C, Lambert L, de Saint Martin A, Abi-Warde MT, Schaefer E, Zix C, Zamani M, Sadeghian S, Zeighami J, Seifi T, Azizimalamiri R, Shariati G, Galehdari H, Selig M, Ding C, Duerinckx S, Pirson I, Abramowicz M, Clément G, Leheup B, Jonveaux P, Lefort G, Bronner M, Renaud M, Bonnet C. Becker A, et al. Among authors: jonveaux p. Clin Genet. 2023 Mar;103(3):346-351. doi: 10.1111/cge.14264. Epub 2022 Dec 2. Clin Genet. 2023. PMID: 36371792 Free PMC article.

3

Extended spectrum of MBD5 mutations in neurodevelopmental disorders.

Bonnet C, Ali Khan A, Bresso E, Vigouroux C, Béri M, Lejczak S, Deemer B, Andrieux J, Philippe C, Moncla A, Giurgea I, Devignes MD, Leheup B, Jonveaux P. Bonnet C, et al. Among authors: jonveaux p. Eur J Hum Genet. 2013 Dec;21(12):1457-61. doi: 10.1038/ejhg.2013.22. Epub 2013 Feb 20. Eur J Hum Genet. 2013. PMID: 23422940 Free PMC article.

4

Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization.

Bonnet C, Grégoire MJ, Brochet K, Raffo E, Leheup B, Jonveaux P. Bonnet C, et al. Among authors: jonveaux p. J Hum Genet. 2006;51(9):815. doi: 10.1007/s10038-006-0023-3. Epub 2006 Aug 10. J Hum Genet. 2006. PMID: 16900295

5

Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation.

Bonnet C, Leheup B, Béri M, Philippe C, Grégoire MJ, Jonveaux P. Bonnet C, et al. Among authors: jonveaux p. Am J Med Genet A. 2009 Jun;149A(6):1280-9. doi: 10.1002/ajmg.a.32858. Am J Med Genet A. 2009. PMID: 19449417

6

Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication.

Piard J, Philippe C, Marvier M, Beneteau C, Roth V, Valduga M, Béri M, Bonnet C, Grégoire MJ, Jonveaux P, Leheup B. Piard J, et al. Among authors: jonveaux p. Am J Med Genet A. 2010 Aug;152A(8):1933-41. doi: 10.1002/ajmg.a.33521. Am J Med Genet A. 2010. PMID: 20635369

7

De novo complex X chromosome rearrangement unmasking maternally inherited CSF2RA deletion in a girl with pulmonary alveolar proteinosis.

Auger J, Bonnet C, Valduga M, Philippe C, Bertolo-Houriez E, Beri-Dexheimer M, Schweitzer C, Leheup B, Jonveaux P. Auger J, et al. Among authors: jonveaux p. Am J Med Genet A. 2013 Oct;161A(10):2594-9. doi: 10.1002/ajmg.a.36097. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918747

8

[An adult patient with 49, XXXXY syndrome: further clinical and biological delineation].

Collet A, Chatelin J, Agopiantz M, Valduga M, Bonnet C, Allou L, Lambert L, Gospodaru RN, Weryha G, Jonveaux P. Collet A, et al. Among authors: jonveaux p. Ann Biol Clin (Paris). 2014 May-Jun;72(3):371-7. doi: 10.1684/abc.2014.0954. Ann Biol Clin (Paris). 2014. PMID: 24876149 Free article. French.

9

Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene.

Bonnet C, Grégoire MJ, Vibert M, Raffo E, Leheup B, Jonveaux P. Bonnet C, et al. Among authors: jonveaux p. J Hum Genet. 2008;53(10):876-885. doi: 10.1007/s10038-008-0321-z. Epub 2008 Jul 24. J Hum Genet. 2008. PMID: 18651096

10

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.

Béri-Dexheimer M, Latger-Cannard V, Philippe C, Bonnet C, Chambon P, Roth V, Grégoire MJ, Bordigoni P, Lecompte T, Leheup B, Jonveaux P. Béri-Dexheimer M, et al. Among authors: jonveaux p. Eur J Hum Genet. 2008 Aug;16(8):1014-8. doi: 10.1038/ejhg.2008.89. Epub 2008 May 14. Eur J Hum Genet. 2008. PMID: 18478040

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