Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis

American Journal of Human Genetics

Volumn 88, Issue 1, 2011, Pages 70-75

  Klopocki, Eva ^a,b   Lohan, Silke ^a,b,c   Brancati, Francesco ^d,h,l   Koll, Randi ^a   Brehm, Anja ^a,b,c   Seemann, Petra ^e   Dathe, Katarina ^a,b   Stricker, Sigmar ^a,b   Hecht, Jochen ^e   Bosse, Kristin ^f   Betz, Regina C ^g   Garaci, Francesco Giuseppe ^h   Dallapiccola, Bruno ⁱ   Jain, Mahim ^j   Muenke, Maximilian ^j   Ng, Vivian C W ^k   Chan, Wilson ^k   Chan, Danny ^k   Mundlos, Stefan ^a,b,e  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c FREIE UNIVERSITÄT BERLIN   (Germany)

^d CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^e Berlin Brandenburg Center for Regenerative Therapies   (Germany)

^f UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^g UNIVERSITY OF BONN   (Germany)

^h UNIVERSITY OF ROME TOR VERGATA   (Italy)

ⁱ BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^j NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^k UNIVERSITY OF HONG KONG   (Hong Kong)

^l UNIVERSITY OF CHIETI   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

SONIC HEDGEHOG PROTEIN;

ANIMAL CELL; ARTICLE; CARTILAGE CELL; CELL DIFFERENTIATION; CONTROLLED STUDY; COPY NUMBER VARIATION; CORTICAL BONE; CRANIOFACIAL SYNOSTOSIS; GENE EXPRESSION; GENE LOCUS; GENE OVEREXPRESSION; HUMAN; MOUSE; NONHUMAN; OSSIFICATION; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SKULL DEVELOPMENT; SYNDACTYLY; WILD TYPE;

ANIMALS; CONSERVED SEQUENCE; CRANIOSYNOSTOSES; DNA COPY NUMBER VARIATIONS; FEMALE; FINGERS; GENE DUPLICATION; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENETIC LOCI; HEDGEHOG PROTEINS; HUMANS; MALE; MICE; MICE, TRANSGENIC; MUTATION; SKULL; SYNDACTYLY;

ERINACEIDAE;

EID: 78650911222     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.11.006     Document Type: Article

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