Phenotypes and genotypes in individuals with SMC1A variants

American Journal of Medical Genetics, Part A

Volumn 173, Issue 8, 2017, Pages 2108-2125

  Huisman, Sylvia ^a,b   Mulder, Paul A ^c   Redeker, Egbert ^a   Bader, Ingrid ^d   Bisgaard, Anne Marie ^e   Brooks, Alice ^f   Cereda, Anna ^g   Cinca, Constanza ^h   Clark, Dinah ⁱ   Cormier Daire, Valerie ^j   Deardorff, Matthew A ^i,k   Diderich, Karin ^f   Elting, Mariet ^l   van Essen, Anthonie ^ag   FitzPatrick, David ^m   Gervasini, Cristina ⁿ   Gillessen Kaesbach, Gabriele ^o   Girisha, Katta M ^p   Hilhorst Hofstee, Yvonne ^q   Hopman, Saskia ^r   Horn, Denise ^s   Isrie, Mala ^l   Jansen, Sandra ^t   Jespersgaard, Cathrine ^e   Kaiser, Frank J ^u   Kaur, Maninder ⁱ   Kleefstra, Tjitske ^t   Krantz, Ian D ^i,k   Lakeman, Phillis ^a   Landlust, Annemiek ^c   Lessel, Davor ^v   Michot, Caroline ^j   Moss, Jo ^w,x   Noon, Sarah E ⁱ   Oliver, Chris ^w   Parenti, Ilaria ^o,u   Pie, Juan ^y   Ramos, Feliciano J ^z   Rieubland, Claudine ^aa   Russo, Silvia ^ab   Selicorni, Angelo ^ac   Tümer, Zeynep ^e   Vorstenbosch, Rieneke ^ad   Wenger, Tara L ^ae   van Balkom, Ingrid ^c   Piening, Sigrid ^c   Wierzba, Jolanta ^af   Hennekam, Raoul C ^a   more..

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b Prinsenstichting   (Netherlands)

^c Autism Team of the North of the Netherlands (ATN)   (Netherlands)

^d PARACELSUS MEDICAL UNIVERSITY   (Austria)

^e Rigshospitalet   (Denmark)

^f ERASMUS MEDICAL CENTER   (Netherlands)

^g PAPA GIOVANNI XXIII HOSPITAL   (Italy)

^h HOSPITAL DE CLÍNICAS JOSÉ DE SAN MARTÍN   (Argentina)

ⁱ CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^j INSERM   (France)

^k UNIVERSITY OF PENNSYLVANIA   (United States)

^l VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^m WESTERN GENERAL HOSPITAL   (United Kingdom)

ⁿ UNIVERSITY OF MILAN   (Italy)

^o UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^p KASTURBA MEDICAL COLLEGE   (India)

^q LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^r UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^s Inst für Medizinische Genetik   (Germany)

^t RADBOUD UNIVERSITY   (Netherlands)

^u UNIVERSITY OF LÜBECK   (Germany)

^v UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^w UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^x UNIVERSITY COLLEGE LONDON   (United Kingdom)

^y UNIVERSITY OF ZARAGOZA   (Spain)

^z UNIVERSITY OF ZARAGOZA   (Spain)

^aa UNIVERSITY OF BERN   (Switzerland)

^ab ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^ac UOC Pediatria   (Italy)

^ad Stichting Severinus   (Netherlands)

^ae SEATTLE CHILDREN S HOSPITAL   (United States)

^af MEDICAL UNIVERSITY OF GDANSK   (Poland)

^ag UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

more..

Author keywords

behavior; Brachmann De Lange syndrome; Cornelia de Lange syndrome; NIPBL; Rett syndrome; self injurious behavior; severity score; SMC1A; syndrome delineation

Indexed keywords

CHROMOSOME PROTEIN; SMC1A PROTEIN; UNCLASSIFIED DRUG; CELL CYCLE PROTEIN; NIPBL PROTEIN, HUMAN; NONHISTONE PROTEIN; PROTEIN; STRUCTURAL MAINTENANCE OF CHROMOSOME PROTEIN 1;

ADAPTIVE BEHAVIOR; ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL FEATURE; COGNITION; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; DE LANGE SYNDROME; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; ETHNICITY; FACE PROFILE; FEMALE; FRAMESHIFT MUTATION; GENETIC VARIATION; GENOTYPE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; NEWBORN; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RETT SYNDROME; EPIDEMIOLOGY; EXOME; GENETICS; INFANTILE SPASM; MIDDLE AGED; NETHERLANDS; PATHOPHYSIOLOGY; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; CELL CYCLE PROTEINS; CHILD; CHILD, PRESCHOOL; CHROMOSOMAL PROTEINS, NON-HISTONE; DE LANGE SYNDROME; EXOME; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; NETHERLANDS; PROTEINS; RETT SYNDROME; SPASMS, INFANTILE; YOUNG ADULT;

EID: 85019761292     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.38279     Document Type: Article

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