Rooryck C - Search Results

1

Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.

Fergelot P, Coupry I, Rooryck C, Deforges J, Maurat E, Solé G, Boute O, Dieux-Coeslier A, David A, Marchal C, Thambo JB, Lacombe D, Arveiler B, Goizet C. Fergelot P, et al. Among authors: rooryck c. Eur J Med Genet. 2012 May;55(5):313-8. doi: 10.1016/j.ejmg.2012.01.018. Epub 2012 Feb 8. Eur J Med Genet. 2012. PMID: 22366253

2

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

3

SMAD4 germinal mosaicism in a family with juvenile polyposis and hypertrophic osteoarthropathy.

Lamireau T, Olschwang S, Rooryck C, Le Bail B, Chateil JF, Lacombe D. Lamireau T, et al. Among authors: rooryck c. J Pediatr Gastroenterol Nutr. 2005 Jul;41(1):117-20. doi: 10.1097/01.mpg.0000151762.51287.7d. J Pediatr Gastroenterol Nutr. 2005. PMID: 15990641 No abstract available.

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

Influence of FCGR3A-V212F and TNFRSF1B-M196R genotypes in patients with rheumatoid arthritis treated with infliximab therapy.

Rooryck C, Barnetche T, Richez C, Laleye A, Arveiler B, Schaeverbeke T. Rooryck C, et al. Clin Exp Rheumatol. 2008 Mar-Apr;26(2):340-2. Clin Exp Rheumatol. 2008. PMID: 18565259

8

Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects.

Rooryck C, Morice-Picard F, Elçioglu NH, Lacombe D, Taieb A, Arveiler B. Rooryck C, et al. Pigment Cell Melanoma Res. 2008 Oct;21(5):583-7. doi: 10.1111/j.1755-148X.2008.00496.x. Pigment Cell Melanoma Res. 2008. PMID: 18821858 No abstract available.

9

[Bardet-Biedl syndrome].

Rooryck C, Lacombe D. Rooryck C, et al. Ann Endocrinol (Paris). 2008 Dec;69(6):463-71. doi: 10.1016/j.ando.2008.10.001. Epub 2008 Nov 18. Ann Endocrinol (Paris). 2008. PMID: 19019343 Review. French.

10

Hallerman-Streiff-like syndrome presenting with laterality and cardiac defects.

Morice-Picard F, Marlin S, Rooryck C, Fayon M, Thambo JB, Demarquez JL, Fauroux B, Denoyelle F, Lacombe D. Morice-Picard F, et al. Among authors: rooryck c. Clin Dysmorphol. 2009 Apr;18(2):116-119. doi: 10.1097/MCD.0b013e32831da7ab. Clin Dysmorphol. 2009. PMID: 19057381

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