Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

European Journal of Medical Genetics

Volumn 55, Issue 6-7, 2012, Pages 404-413

  Bijlsma, E K ^a   Collins, A ^b   Papa, F T ^c   Tejada, M I ^d   Wheeler, P ^e   Peeters, E A J ^f   Gijsbers, A C J ^a   van de Kamp, J M ^a   Kriek, M ^a   Losekoot, M ^a   Broekma, A J ^a   Crolla, J A ^g   Pollazzon, M ^c,h   Mucciolo, M ^c   Katzaki, E ^c   Disciglio, V ^c   Ferreri, M I ⁱ   Marozza, A ^h   Mencarelli, M A ^c,h   Castagnini, C ^c,h   Dosa, L ^c,h   Ariani, F ^c   Mari, F ^c,h   Canitano, R ^h   Hayek, G ^h   Botella, M P ^j   Gener, B ^d   Minguez M ^k   Renieri, A ^c,h   Ruivenkamp, C A L ^a   more..

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b PRINCESS ANNE HOSPITAL   (United Kingdom)

^c UNIVERSITY OF SIENA   (Italy)

^d HOSPITAL DE CRUCES   (Spain)

^e NEMOURS CHILDREN S HOSPITAL   (United States)

^f JULIANA CHILDREN S HOSPITAL   (Netherlands)

^g SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^h UNIVERSITY HOSPITAL OF SIENA   (Italy)

ⁱ UNIVERSITY OF PISA   (Italy)

^j HOSPITAL TXAGORRITXU   (Spain)

^k HOSPITAL DE GALDAKAO   (Spain)

more..

Author keywords

IRAK1; MECP2 duplication; Mental retardation in females; X inactivation; Xq28 duplication

Indexed keywords

MELATONIN; METHYL CPG BINDING PROTEIN 2; OPN1LW PROTEIN; OPN1NW PROTEIN; OPN1NW2 PROTEIN; PROTEIN; TEX28 PROTEIN; TEX28P1 PROTEIN; TEX28P2 PROTEIN; THYROTROPIN; TKTL1 PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BRAIN ATROPHY; CHILD; CHROMOSOME 21; CHROMOSOME 21Q; CHROMOSOME DELETION; CHROMOSOME INACTIVATION; CHROMOSOME XQ; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DANDY WALKER SYNDROME; DEMYELINATION; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; FACIES; FEMALE; FOLLOW UP; GENE DUPLICATION; GENETIC CODE; HUMAN; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; SCHOOL CHILD; SLEEP DISORDER; TENDON REFLEX; THYROTROPIN BLOOD LEVEL; X CHROMOSOME;

EID: 84862202977     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.02.009     Document Type: Article

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