Rooryck C - Search Results

1

A 17q12 chromosomal duplication associated with renal disease and esophageal atresia.

Faguer S, Chassaing N, Bandin F, Prouheze C, Arveiler B, Rooryck C, Nogier MB, Chauveau D, Calvas P, Decramer S. Faguer S, et al. Among authors: rooryck c. Eur J Med Genet. 2011 Jul-Aug;54(4):e437-40. doi: 10.1016/j.ejmg.2011.03.010. Epub 2011 Apr 19. Eur J Med Genet. 2011. PMID: 21540130

2

NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.

Hermida A, Ader F, Millat G, Jedraszak G, Maury P, Cador R, Catalan PA, Clerici G, Combes N, De Groote P, Dupin-Deguine D, Eschalier R, Faivre L, Garcia P, Guillon B, Janin A, Kugener B, Lackmy M, Laredo M, Le Guillou X, Lesaffre F, Lucron H, Milhem A, Nadeau G, Nguyen K, Palmyre A, Perdreau E, Picard F, Rebotier N, Richard P, Rooryck C, Seitz J, Verloes A, Vernier A, Winum P, Yabeta GA, Bouchot O, Chevalier P, Charron P, Gandjbakhch E. Hermida A, et al. Among authors: rooryck c. Circ Genom Precis Med. 2024 Feb;17(1):e004285. doi: 10.1161/CIRCGEN.123.004285. Epub 2023 Dec 7. Circ Genom Precis Med. 2024. PMID: 38059363 Free article.

3

Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy.

Goizet C, Coupry I, Rooryck C, Taine L, Dormoy V, Lacombe D, Arveiler B. Goizet C, et al. Among authors: rooryck c. Eur J Hum Genet. 2004 Mar;12(3):245-50. doi: 10.1038/sj.ejhg.5201128. Eur J Hum Genet. 2004. PMID: 14722582

4

Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.

Rooryck C, Roudaut C, Robine E, Müsebeck J, Arveiler B. Rooryck C, et al. Pigment Cell Res. 2006 Jun;19(3):239-42. doi: 10.1111/j.1600-0749.2006.00298.x. Pigment Cell Res. 2006. PMID: 16704458

5

A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation.

Rooryck C, Burgelin I, Stef M, Taine L, Thambo JB, Lacombe D, Arveiler B. Rooryck C, et al. Eur J Med Genet. 2008 Jan-Feb;51(1):74-80. doi: 10.1016/j.ejmg.2007.09.003. Epub 2007 Oct 2. Eur J Med Genet. 2008. PMID: 18024240

6

2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene.

Rooryck C, Stef M, Burgelin I, Simon D, Souakri N, Thambo JB, Chateil JF, Lacombe D, Arveiler B. Rooryck C, et al. Eur J Med Genet. 2009 Nov-Dec;52(6):446-9. doi: 10.1016/j.ejmg.2009.08.005. Epub 2009 Sep 3. Eur J Med Genet. 2009. PMID: 19733267

7

Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum.

Rooryck C, VuPhi Y, Souakri N, Burgelin I, Saura R, Lacombe D, Arveiler B, Taine L. Rooryck C, et al. Eur J Med Genet. 2010 Mar-Apr;53(2):104-7. doi: 10.1016/j.ejmg.2010.01.003. Epub 2010 Feb 2. Eur J Med Genet. 2010. PMID: 20132917

8

A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia.

Simon D, Laloo B, Barillot M, Barnetche T, Blanchard C, Rooryck C, Marche M, Burgelin I, Coupry I, Chassaing N, Gilbert-Dussardier B, Lacombe D, Grosset C, Arveiler B. Simon D, et al. Among authors: rooryck c. Hum Mol Genet. 2010 May 15;19(10):2015-27. doi: 10.1093/hmg/ddq083. Epub 2010 Feb 24. Hum Mol Genet. 2010. PMID: 20181727

9

Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum.

Rooryck C, Souakri N, Cailley D, Bouron J, Goizet C, Delrue MA, Marlin S, Lacombe FD, Arveiler B. Rooryck C, et al. Am J Med Genet A. 2010 Aug;152A(8):1984-9. doi: 10.1002/ajmg.a.33491. Am J Med Genet A. 2010. PMID: 20635336

10

Brachydactyly type A1 with short humerus and associated skeletal features.

Lacombe D, Delrue MA, Rooryck C, Morice-Picard F, Arveiler B, Maugey-Laulom B, Mundlos S, Toutain A, Chateil JF. Lacombe D, et al. Among authors: rooryck c. Am J Med Genet A. 2010 Dec;152A(12):3016-21. doi: 10.1002/ajmg.a.33761. Am J Med Genet A. 2010. PMID: 21077205

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