Jouk PS - Search Results

1

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.

Thevenon J, Monnier N, Callier P, Dieterich K, Francoise M, Montgomery T, Kjaergaard S, Neas K, Dixon J, Dahm TL, Huet F, Ragon C, Mosca-Boidron AL, Marle N, Duplomb L, Aubriot-Lorton MH, Mugneret F, Vokes SA, Tucker HW, Lunardi J, Faivre L, Jouk PS, Thauvin-Robinet C. Thevenon J, et al. Among authors: jouk ps. Am J Med Genet A. 2014 Dec;164A(12):3027-34. doi: 10.1002/ajmg.a.36751. Epub 2014 Sep 24. Am J Med Genet A. 2014. PMID: 25258245

2

Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility.

Dieterich K, Soto Rifo R, Faure AK, Hennebicq S, Ben Amar B, Zahi M, Perrin J, Martinez D, Sèle B, Jouk PS, Ohlmann T, Rousseaux S, Lunardi J, Ray PF. Dieterich K, et al. Among authors: jouk ps. Nat Genet. 2007 May;39(5):661-5. doi: 10.1038/ng2027. Epub 2007 Apr 15. Nat Genet. 2007. PMID: 17435757

3

The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population.

Dieterich K, Zouari R, Harbuz R, Vialard F, Martinez D, Bellayou H, Prisant N, Zoghmar A, Guichaoua MR, Koscinski I, Kharouf M, Noruzinia M, Nadifi S, Sefiani A, Lornage J, Zahi M, Viville S, Sèle B, Jouk PS, Jacob MC, Escalier D, Nikas Y, Hennebicq S, Lunardi J, Ray PF. Dieterich K, et al. Among authors: jouk ps. Hum Mol Genet. 2009 Apr 1;18(7):1301-9. doi: 10.1093/hmg/ddp029. Epub 2009 Jan 15. Hum Mol Genet. 2009. PMID: 19147683

4

Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy.

Monnier N, Lunardi J, Marty I, Mezin P, Labarre-Vila A, Dieterich K, Jouk PS. Monnier N, et al. Among authors: jouk ps. Neuromuscul Disord. 2009 Feb;19(2):118-23. doi: 10.1016/j.nmd.2008.11.009. Epub 2009 Jan 19. Neuromuscul Disord. 2009. PMID: 19155175

5

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

Millat G, Bouvagnet P, Chevalier P, Dauphin C, Jouk PS, Da Costa A, Prieur F, Bresson JL, Faivre L, Eicher JC, Chassaing N, Crehalet H, Porcher R, Rodriguez-Lafrasse C, Rousson R. Millat G, et al. Among authors: jouk ps. Eur J Med Genet. 2010 Sep-Oct;53(5):261-7. doi: 10.1016/j.ejmg.2010.07.007. Epub 2010 Jul 30. Eur J Med Genet. 2010. PMID: 20624503

6

Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism.

Devillard F, Guinchat V, Moreno-De-Luca D, Tabet AC, Gruchy N, Guillem P, Nguyen Morel MA, Leporrier N, Leboyer M, Jouk PS, Lespinasse J, Betancur C. Devillard F, et al. Among authors: jouk ps. Am J Med Genet A. 2010 Sep;152A(9):2346-54. doi: 10.1002/ajmg.a.33601. Am J Med Genet A. 2010. PMID: 20684015 Free PMC article.

7

Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome.

Harbuz R, Lespinasse J, Boulet S, Francannet C, Creveaux I, Benkhelifa M, Jouk PS, Lunardi J, Ray PF. Harbuz R, et al. Among authors: jouk ps. Prenat Diagn. 2010 Nov;30(11):1072-8. doi: 10.1002/pd.2613. Prenat Diagn. 2010. PMID: 20842625

8

17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disability.

Coutton C, Devillard F, Vieville G, Amblard F, Lopez G, Jouk PS, Satre V. Coutton C, et al. Among authors: jouk ps. Am J Med Genet A. 2012 Oct;158A(10):2564-70. doi: 10.1002/ajmg.a.35553. Epub 2012 Aug 17. Am J Med Genet A. 2012. PMID: 22903743

9

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

Dieterich K, Quijano-Roy S, Monnier N, Zhou J, Fauré J, Smirnow DA, Carlier R, Laroche C, Marcorelles P, Mercier S, Mégarbané A, Odent S, Romero N, Sternberg D, Marty I, Estournet B, Jouk PS, Melki J, Lunardi J. Dieterich K, et al. Among authors: jouk ps. Hum Mol Genet. 2013 Apr 15;22(8):1483-92. doi: 10.1093/hmg/dds514. Epub 2012 Dec 11. Hum Mol Genet. 2013. PMID: 23236030

10

Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability.

Le Tanno P, Poreau B, Devillard F, Vieville G, Amblard F, Jouk PS, Satre V, Coutton C. Le Tanno P, et al. Among authors: jouk ps. Am J Med Genet A. 2014 Jun;164A(6):1530-6. doi: 10.1002/ajmg.a.36467. Epub 2014 Mar 19. Am J Med Genet A. 2014. PMID: 24648389

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