A comprehensive molecular study on coffin-siris and nicolaides-baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Human Molecular Genetics

Volumn 22, Issue 25, 2013, Pages 5121-5135

  Wieczorek, Dagmar ^a   Bögershausen, Nina ^c   Beleggia, Filippo ^c   Steiner Haldenstätt, Sabine ^a   Pohl, Esther ^c   Li, Yun ^c   Milz, Esther ^c   Martin, Marcel ^e   Thiele, Holger ^d   Altmüller, Janine ^d   Alanay, Yasemin ^f,g   Kayserili, Hülya ^h   Klein Hitpass, Ludger ^a,b   Böhringer, Stefan ⁱ   Wollstein, Andreas ^j   Albrecht, Beate ^a   Boduroglu, Koray ^g   Caliebe, Almuth ^k   Chrzanowska, Krystyna ^l   Cogulu, Ozgur ^m   Cristofoli, Francesca ^o   Czeschik, Johanna Christina ^a   Devriendt, Koenraad ^o   Dotti, Maria Teresa ^p   Elcioglu, Nursel ^q   Gener, Blanca ^r   Goecke, Timm O ^s   Krajewska Walasek, Małgorzata ^l   Guillén Navarro, Encarnación ^t   Hayek, Joussef ^u   Houge, Gunnar ^v   Kilic, Esra ^g   Simsek Kiper, Pelin Özlem ^g   López González, Vanesa ^t   Kuechler, Alma ^a   Lyonnet, Stanislas ^w   Mari, Francesca ^p,u   Marozza, Annabella ^u   Dramard, Michèle Mathieu ^x   Mikat, Barbara ^a   Morin, Gilles ^x   Morice Picard, Fanny ^y   Özkinay, Ferda ⁿ   Rauch, Anita ^z   Renieri, Alessandra ^p,u   Tinschert, Sigrid ^aa,ab   Eda Utine, G ^g   Vilain, Catheline ^ac   Vivarelli, Rossella ^u   Zweier, Christiane ^ad   Nürnberg, Peter ^c,d   Rahmann, Sven ^b   Vermeesch, Joris ^o   Lüdecke, Hermann Josef ^a   Zeschnigk, Michael ^a   Wollnik, Bernd ^c   more..

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b UNIVERSITY OF DUISBURG ESSEN   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

^d UNIVERSITY OF COLOGNE   (Germany)

^e TU DORTMUND UNIVERSITY   (Germany)

^f ACIBADEM UNIVERSITY   (Turkey)

^g HACETTEPE UNIVERSITY   (Turkey)

^h ISTANBUL UNIVERSITY   (Turkey)

ⁱ LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^j UNIVERSITY OF MUNICH   (Germany)

^k UNIVERSITY OF KIEL   (Germany)

^l CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^m Faculty of Medicine Ege University ^*  (Turkey)

ⁿ EGE UNIVERSITY   (Turkey)

^o UNIVERSITY OF LEUVEN   (Belgium)

^p UNIVERSITY OF SIENA   (Italy)

^q MARMARA UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^r HOSPITAL DE CRUCES   (Spain)

^s UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^t HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^u UNIVERSITY HOSPITAL OF SIENA   (Italy)

^v HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^w UNIVERSITÉ PARIS DESCARTES   (France)

^x AMIENS UNIVERSITY HOSPITAL   (France)

^y UNIVERSITÉ DE BORDEAUX   (France)

^z UNIVERSITY OF ZURICH   (Switzerland)

^aa DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^ab INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^ac ERASME HOSPITAL   (Belgium)

^ad UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BRM PROTEIN;

ALLELE; ARID1A GENE; ARID1B GENE; ARTICLE; BRACHYDACTYLY; CHILD; CHROMATIN ASSEMBLY AND DISASSEMBLY; CLEFT PALATE; CLINICAL ARTICLE; COARSE FACE; COFFIN SIRIS SYNDROME; CONFORMATIONAL TRANSITION; CRYPTORCHISM; DEACETYLATION; DEVELOPMENTAL DISORDER; EXON; FACIES; FEEDING DIFFICULTY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENETIC DISORDER; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEARING IMPAIRMENT; HUMAN; HYPERTRICHOSIS; INDEL MUTATION; INTRON; KARYOTYPING; LONG PHILTRUM; MACROGLOSSIA; MAJOR GENE; MALE; MICROARRAY ANALYSIS; MISSENSE MUTATION; MOSAICISM; MUSCLE HYPOTONIA; NAIL HYPOPLASIA; NICOLAIDES BARAITSER SYNDROME; PATHOGENESIS; PHALANX HYPOPLASIA; PHENOTYPE; PHF6 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; SCANTY HAIR; SCHOOL CHILD; SCOLIOSIS; SEIZURE; SMARCB1 GENE; SMARCE1 GENE; TRANSCRIPTION REGULATION; VISUAL IMPAIRMENT; ZINC FINGER MOTIF;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CHROMATIN ASSEMBLY AND DISASSEMBLY; CHROMOSOMAL PROTEINS, NON-HISTONE; DNA-BINDING PROTEINS; EXOME; FACE; FACIES; FEMALE; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; HYPOTRICHOSIS; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; KARYOTYPING; MALE; MICROGNATHISM; MUTATION, MISSENSE; NECK; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 84888798171     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt366     Document Type: Article

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