Rooryck C - Search Results

1

A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis.

Faguer S, De Sandre-Giovannoli A, Hemery M, Lévy N, Lamant L, Arveiler B, Rooryck C, Prouheze C, Vigouroux A, Chauveau D, Calvas P, Chassaing N. Faguer S, et al. Among authors: rooryck c. Eur J Med Genet. 2011 May-Jun;54(3):310-3. doi: 10.1016/j.ejmg.2011.01.005. Epub 2011 Jan 27. Eur J Med Genet. 2011. PMID: 21276880

2

Abnormal Cellular Phenotypes Induced by Three TMPO/LAP2 Variants Identified in Men with Cardiomyopathies.

Vadrot N, Ader F, Moulin M, Merlant M, Chapon F, Gandjbakhch E, Labombarda F, Maragnes P, Réant P, Rooryck C, Probst V, Donal E, Richard P, Ferreiro A, Buendia B. Vadrot N, et al. Among authors: rooryck c. Cells. 2023 Jan 16;12(2):337. doi: 10.3390/cells12020337. Cells. 2023. PMID: 36672271 Free PMC 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

Bardet-biedl syndrome and brain abnormalities.

Rooryck C, Pelras S, Chateil JF, Cances C, Arveiler B, Verloes A, Lacombe D, Goizet C. Rooryck C, et al. Neuropediatrics. 2007 Feb;38(1):5-9. doi: 10.1055/s-2007-981466. Neuropediatrics. 2007. PMID: 17607597

6

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

7

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

8

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

9

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

10

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

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