High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome

European Journal of Human Genetics

Volumn 18, Issue 10, 2010, Pages 1133-1140

  Parri, Veronica ^a   Katzaki, Eleni ^a   Uliana, Vera ^a   Scionti, Francesca ^a   Tita, Rossella ^a   Artuso, Rosangela ^a   Longo, Ilaria ^a   Boschloo, Renske ^b   Vijzelaar, Raymon ^b   Selicorni, Angelo ^c   Brancati, Francesco ^d   Dallapiccola, Bruno ^e   Zelante, Leopoldo ^d   Hamel, Christian P ^f   Sarda, Pierre ^f   Lalani, Seema R ^g   Grasso, Rita ^h   Buoni, Sabrina ^a   Hayek, Joussef ^a   Servais, Laurent ⁱ   De Vries, Bert B A ^j   Georgoudi, Nelly ^k   Nakou, Sheena ^k   Petersen, Michael B ^k   Mari, Francesca ^a   Renieri, Alessandra ^a   Ariani, Francesca ^a   more..

^a UNIVERSITY OF SIENA   (Italy)

^b MRC HOLLAND   (Netherlands)

^c UNIVERSITY OF MILAN   (Italy)

^d CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^e BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^f MONTPELLIER UNIVERSITY HOSPITAL   (France)

^g BAYLOR COLLEGE OF MEDICINE   (United States)

^h IRCSS   (Italy)

ⁱ Institut de Myologie   (France)

^j RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^k Institute of Child Health   (Greece)

more..

Author keywords

COH1; Cohen syndrome; MLPA

Indexed keywords

ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; COHEN SYNDROME; CONTROLLED STUDY; COPY NUMBER VARIATION; EXON; FEMALE; GENE DELETION; GENE DUPLICATION; GENE NUMBER; GENETIC SCREENING; HAPLOTYPE; HUMAN; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MYOPIA; NEUTROPENIA; OBESITY; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINOPATHY;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; DNA COPY NUMBER VARIATIONS; DNA MUTATIONAL ANALYSIS; FINGERS; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENES, RECESSIVE; HAPLOTYPES; HUMANS; INFANT; MENTAL RETARDATION; MICROCEPHALY; MIDDLE AGED; MOLECULAR PROBE TECHNIQUES; MUSCLE HYPOTONIA; MYOPIA; OBESITY; POLYMERASE CHAIN REACTION; VESICULAR TRANSPORT PROTEINS;

EID: 77957154320     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.59     Document Type: Article

References (16)

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