Coffin-siris syndrome and the BAF complex: Genotype-phenotype study in 63 patients

Human Mutation

Volumn 34, Issue 11, 2013, Pages 1519-1528

  Santen, Gijs W E ^a   Aten, Emmelien ^a   Vulto van Silfhout, Anneke T ^b   Pottinger, Caroline ^c   van Bon, Bregje W M ^b,d   van Minderhout, Ivonne J H M ^a   Snowdowne, Ronelle ^a   van der Lans, Christian A C ^a   Boogaard, Merel ^a   Linssen, Margot M L ^a   Vijfhuizen, Linda ^a   van der Wielen, Michiel J R ^a   Vollebregt, M J Ellen ^a   Breuning, Martijn H ^a   Kriek, Marjolein ^a   van Haeringen, Arie ^a,f   den Dunnen, Johan T ^a   Hoischen, Alexander ^b,d   Clayton Smith, Jill ^e   de Vries, Bert B A ^b   Hennekam, Raoul C M ^g   van Belzen, Martine J ^a   Almureikhi, Mariam ^h   Baban, Anwar ⁱ   Barbosa, Mafalda ^j,k   Ben Omran, Tawfeg ^h   Berry, Katherine ^l   Bigoni, Stefania ^m   Boute, Odile ⁿ   Brueton, Louise ^o   van der Burgt, Ineke ^b   Canham, Natalie ^p   Chandler, Kate E ^q   Chrzanowska, Krystyna ^r   Collins, Amanda L ^s   de Toni, Teresa ^t   Dean, John ^u   den Hollander, Nicolette S ^a   Flore, Leigh Anne ^v   Fryer, Alan ^w   Gardham, Alice ^p   Graham, John M ^x   Harrison, Victoria ^y   Horn, Denise ^z   Jongmans, Marjolijn C ^b   Josifova, Dragana ^aa   Kant, Sarina G ^a   Kapoor, Seema ^ab   Kingston, Helen ^e   Kini, Usha ^ac   Kleefstra, Tjitske ^b   Malgorzata Krajewska Walasek, ^r   Kramer, Nancy ^ad   Maas, Saskia M ^g   Maciel, Patricia ^ae,af   Grazia M S Mancini, ^ag   Maystadt, Isabelle ^ah   McKee, Shane ^ai   Milunsky, Jeff M ^aj   Nampoothiri, Sheela ^ak   Newbury Ecob, Ruth ^al   Nikkel, Sarah M ^am   Parker, Michael J ^an   Pérez Jurado, Luis A ^ao   Robertson, Stephen P ^ap   Rooryck, Caroline ^aq   Shears, Debbie ^ac   Silengo, Margherita ^ar   Singh, Ankur ^ab   Smigiel, Robert ^as   Soares, Gabriela ^j   Splitt, Miranda ^at   Stewart, Helen ^ac   Sweeney, Elizabeth ^w   Tassabehji, May ^q   Temple, I Karen ^au   Tuysuz, Beyhan ^av   van Eerde, Albertien M ^aw   Vincent Delorme, Catherine ⁿ   Wilson, Louise C ^ax   Yesil, Gozde ^ay   more..

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c GLAN CLWYD HOSPITAL   (United Kingdom)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e ST MARY S HOSPITAL   (United Kingdom)

^f JULIANA CHILDREN S HOSPITAL   (Netherlands)

^g ACADEMIC MEDICAL CENTER   (Netherlands)

^h HAMAD MEDICAL CORPORATION   (Qatar)

ⁱ BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^j Centro Hospitalar Universitario do Porto   (Portugal)

^k INSTITUTO GULBENKIAN DE CIÊNCIA   (Portugal)

^l Shodair   (United States)

^m UNIVERSITY HOSPITAL OF FERRARA   (Italy)

ⁿ LILLE UNIVERSITY HOSPITAL   (France)

^o BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^p NORTHWICK PARK HOSPITAL   (United Kingdom)

^q UNIVERSITY OF MANCHESTER   (United Kingdom)

^r CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^s PRINCESS ANNE HOSPITAL   (United Kingdom)

^t UNIVERSITY OF GENOA   (Italy)

^u Medical Genetics Department   (United Kingdom)

^v CHILDREN'S HOSPITAL OF MICHIGAN   (United States)

^w LIVERPOOL WOMEN'S NHS FOUNDATION TRUST   (United Kingdom)

^x Sinai Medical Center   (United States)

^y CHURCHILL HOSPITAL   (United Kingdom)

^z CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^aa GUY S HOSPITAL   (United Kingdom)

^ab MAULANA AZAD MEDICAL COLLEGE   (India)

^ac OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^ad CEDARS SINAI MEDICAL CENTER   (United States)

^ae UNIVERSITY OF MINHO   (Portugal)

^af UNIVERSITY OF MINHO   (Portugal)

^ag ERASMUS MEDICAL CENTER   (Netherlands)

^ah INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^ai BELFAST CITY HOSPITAL   (United Kingdom)

^aj Center for Human Genetic Research   (United States)

^ak AMRITA INSTITUTE OF MEDICAL SCIENCES   (India)

^al ST MICHAEL'S HOSPITAL   (United Kingdom)

^am CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^an SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^ao UNIVERSITAT POMPEU FABRA   (Spain)

^ap UNIVERSITY OF OTAGO   (New Zealand)

^aq UNIVERSITÉ DE BORDEAUX   (France)

^ar UNIVERSITY OF TURIN   (Italy)

^as WROCLAW MEDICAL UNIVERSITY   (Poland)

^at NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^au UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^av ISTANBUL UNIVERSITY   (Turkey)

^aw UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^ax GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^ay Bezmialem University of Medicine   (Turkey)

more..

Author keywords

ARID1A; ARID1B; BAF; Coffin Siris; CSS; Genotype phenotype; Mosaicism; NBS; Nicolaides Baraitser; SMARCA2; SMARCA4; SMARCB1; SMARCE1; SWI SNF

Indexed keywords

ARID1A PROTEIN; ARID1B PROTEIN; BRG1 PROTEIN; BRM PROTEIN; PEPTIDES AND PROTEINS; SMARCB1 PROTEIN; SMARCE1 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL FEATURE; COFFIN SIRIS SYNDROME; CONGENITAL DISORDER; EXOME; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MOSAICISM; PRIORITY JOURNAL;

ARID1A; ARID1B; BAF; COFFIN-SIRIS; CSS; GENOTYPE-PHENOTYPE; MOSAICISM; NBS; NICOLAIDES-BARAITSER; SMARCA2; SMARCA4; SMARCB1; SMARCE1; SWI/SNF;

ABNORMALITIES, MULTIPLE; CHROMOSOMAL PROTEINS, NON-HISTONE; DNA HELICASES; DNA-BINDING PROTEINS; EXONS; FACE; FACIES; GENE ORDER; GENETIC ASSOCIATION STUDIES; HAND DEFORMITIES, CONGENITAL; HUMANS; INTELLECTUAL DISABILITY; MICROGNATHISM; MULTIPROTEIN COMPLEXES; NECK; NUCLEAR PROTEINS; PHENOTYPE; TRANSCRIPTION FACTORS;

EID: 84885422201     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22394     Document Type: Article

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