Molecular Characterization of 1q44 Microdeletion in 11 Patients Reveals Three Candidate Genes for Intellectual Disability and SeizuresTHIERRY, Gaelle; BENETEAU, Claire; CAILLEY, Dorothee et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 7, pp 1633-1640, issn 1552-4825, 8 p.Article

Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophyGOIZET, Cyril; COUPRY, Isabelle; ROORYCK, Caroline et al.European journal of human genetics. 2004, Vol 12, Num 3, pp 245-250, issn 1018-4813, 6 p.Article

A Homozygous Balanced Reciprocal Translocation Suggests LINC00237 as a Candidate Gene for MOMO (Macrosomia, Obesity, Macrocephaly, and Ocular Abnormalities) SyndromePHI YEN VU; TOUTAIN, Jérôme; PHILIPPE, Christophe et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 11, pp 2849-2856, issn 1552-4825, 8 p.Article

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndromeNURDEN, Paquita; DEBILI, Najet; DANIEL LAMAZIERE, Jean-Marie et al.Blood. 2011, Vol 118, Num 22, pp 5928-5937, issn 0006-4971, 10 p.Article

A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformationROORYCK, Caroline; BURGELIN, Ingrid; STEF, Marianne et al.European journal of medical genetics. 2008, Vol 51, Num 1, pp 74-80, issn 1769-7212, 7 p.Article

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patientsROORYCK, Caroline; MORICE-PICARD, Fanny; ARVEILER, Benoît et al.Human genetics. 2011, Vol 129, Num 2, pp 199-208, issn 0340-6717, 10 p.Article

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 chondrodysplasiaSIMON, Delphine; LALOO, Benoit; GILBERT-DUSSARDIER, Brigitte et al.Human molecular genetics (Print). 2010, Vol 19, Num 10, pp 2015-2027, issn 0964-6906, 13 p.Article

2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate geneROORYCK, Caroline; STEF, Marianne; BURGELIN, Ingrid et al.European journal of medical genetics. 2009, Vol 52, Num 6, pp 446-449, issn 1769-7212, 4 p.Article