BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

European Journal of Human Genetics

Volumn 17, Issue 10, 2009, Pages 1325-1335

  Hilton, Emma ^a,b   Johnston, Jennifer ^c   Whalen, Sandra ^d,e,f   Okamoto, Nobuhiko ^g   Hatsukawa, Yoshikazu ^g   Nishio, Juntaro ^g   Kohara, Hiroshi ^g   Hirano, Yoshiko ^g   Mizuno, Seiji ^h   Torii, Chiharu ⁱ   Kosaki, Kenjiro ⁱ   Manouvrier, Sylvie ^j   Boute, Odile ^j   Perveen, Rahat ^a   Law, Caroline ^k   Moore, Anthony ^l   Fitzpatrick, David ^m   Lemke, Johannes ⁿ   Fellmann, Florence ^o   Debray, François Guillaume ^p   Dastot Le Moal, Florence ^d,e,f   Gerard, Marion ^q   Martin, Josiane ^d,e,f   Bitoun, Pierre ^r   Goossens, Michel ^d,e,f   Verloes, Alain ^q   Schinzel, Albert ⁿ   Bartholdi, Deborah ⁿ   Bardakjian, Tanya ^s   Hay, Beverly ^t   Jenny, Kim ^u   Johnston, Kathreen ^v   Lyons, Michael ^w,x   Belmont, John W ^y   Biesecker, Leslie G ^c   Giurgea, Irina ^d,e,f   Black, Graeme ^a,z   more..

^a ST MARY S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d INSERM U955   (France)

^e FACULTÉ DE MÉDECINE   (France)

^f HENRI MONDOR HOSPITAL   (France)

^g RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^h Aichi Welfare Center   (Japan)

ⁱ KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^j LILLE UNIVERSITY HOSPITAL   (France)

^k PRINCESS ANNE HOSPITAL   (United Kingdom)

^l MOORFIELDS EYE HOSPITAL   (United Kingdom)

^m WESTERN GENERAL HOSPITAL   (United Kingdom)

ⁿ UNIVERSITY OF ZURICH   (Switzerland)

^o LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^p UNIVERSITY OF LIÈGE   (Belgium)

^q HÔPITAL ROBERT DEBRÉ   (France)

^r HÔPITAL JEAN VERDIER   (France)

^s Albert Einstein Medical Centre   (United States)

^t Med Ctr Ctrl Massachusetts Mem   (United States)

^u NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^v KAISER PERMANENTE MEDICAL CENTER   (United States)

^w STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^x Greenwood Genetic Center   (United States)

^y BAYLOR COLLEGE OF MEDICINE   (United States)

^z MANCHESTER ROYAL EYE HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN BCL 6; PROTEIN BCL 6 COREPRESSOR; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; EYE DISEASE; FACE MALFORMATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HEART DISEASE; HUMAN; INFANT; LENZ MICROPHTHALMIA SYNDROME; MENTAL DEFICIENCY; MICROPHTHALMIA; OCULOFACIOCARDIODENTAL SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SKELETON MALFORMATION; TOOTH DISEASE; X CHROMOSOME LINKED DISORDER;

EID: 70350123910     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.52     Document Type: Article

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