Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

American Journal of Medical Genetics, Part A

Volumn 170, Issue 12, 2016, Pages 3069-3082

  Fergelot, Patricia ^a   Van Belzen, Martine ^b   Van Gils, Julien ^c   Afenjar, Alexandra ^d   Armour, Christine M ^e   Arveiler, Benoit ^a   Beets, Lex ^f   Burglen, Lydie ^d   Busa, Tiffany ^g   Collet, Marie ^h   Deforges, Julie ^c   de Vries, Bert B A ⁱ   Dominguez Garrido, Elena ^j   Dorison, Nathalie ^k   Dupont, Juliette ^l   Francannet, Christine ^m   Garciá Minaúr, Sixto ⁿ   Gabau Vila, Elisabeth ^o   Gebre Medhin, Samuel ^p   Gener Querol, Blanca ^q   Geneviève, David ^r   Gérard, Marion ^s   Gervasini, Cristina Giovanna ^t   Goldenberg, Alice ^u   Josifova, Dragana ^v   Lachlan, Katherine ^w   Maas, Saskia ^f   Maranda, Bruno ^x   Moilanen, Jukka S ^y   Nordgren, Ann ^z   Parent, Philippe ^aa   Rankin, Julia ^ab   Reardon, Willie ^ac   Rio, Marlène ^g   Roume, Joëlle ^ad   Shaw, Adam ^v   Smigiel, Robert ^ae   Sojo, Amaia ^q   Solomon, Benjamin ^af   Stembalska, Agnieszka ^ae   Stumpel, Constance ^ag   Suarez, Francisco ^ah   Terhal, Paulien ^ai   Thomas, Simon ^aj   Touraine, Renaud ^ak   Verloes, Alain ^al   Vincent Delorme, Catherine ^am   Wincent, Josephine ^z   Peters, Dorien J M ^b   Bartsch, Oliver ^an   Larizza, Lidia ^ao   Lacombe, Didier ^a   Hennekam, Raoul C ^f   more..

^a BORDEAUX UNIVERSITY HOSPITAL   (France)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c University Hospital Center   (France)

^d ARMAND TROUSSEAU HOSPITAL   (France)

^e CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^f ACADEMIC MEDICAL CENTER   (Netherlands)

^g TIMONE HOSPITAL   (France)

^h HÔPITAL NECKER ENFANTS MALADES   (France)

ⁱ RADBOUD UNIVERSITY   (Netherlands)

^j Center for Biomedical Research of La Rioja   (Spain)

^k Institute Jérôme Lejeune   (France)

^l HOSPITAL DE SANTA MARIA   (Portugal)

^m UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

ⁿ HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^o HOSPITAL DE SABADELL   (Spain)

^p LUND UNIVERSITY   (Sweden)

^q HOSPITAL DE CRUCES   (Spain)

^r HÔPITAL ARNAUD DE VILLENEUVE   (France)

^s CHU Clemenceau   (France)

^t UNIVERSITY OF MILAN   (Italy)

^u HÔPITAL CHARLES NICOLLE   (France)

^v GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^w PRINCESS ANNE HOSPITAL   (United Kingdom)

^x LAVAL UNIVERSITY   (Canada)

^y UNIVERSITY OF OULU   (Finland)

^z KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^aa CHU MORVAN   (France)

^ab ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

^ac OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^ad CENTRE HOSPITALIER INTERCOMMUNAL   (France)

^ae WROCLAW MEDICAL UNIVERSITY   (Poland)

^af Inova Translational Medicine Institute   (United States)

^ag MAASTRICHT UNIVERSITY   (Netherlands)

^ah HOSPITAL VIRGEN DE LA SALUD   (Spain)

^ai UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^aj SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^ak HÔPITAL NORD   (France)

^al HÔPITAL ROBERT DEBRÉ   (France)

^am Hospital d'Arras   (France)

^an UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^ao UNIVERSITY OF MILAN   (Italy)

more..

Author keywords

EP300; genotype; phenotype; pre eclampsia; Rubinstein Taybi syndrome

Indexed keywords

E1A ASSOCIATED P300 PROTEIN; CREBBP PROTEIN, HUMAN; CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN; EP300 PROTEIN, HUMAN;

ADULT; ARTICLE; CREBBP GENE; EP300 GENE; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GENOTYPE; HALLUX; HISTORY; HUMAN; INTELLECTUAL IMPAIRMENT; LIMB MALFORMATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; OLIGOHYDRAMNIOS; PHENOTYPE; POINT MUTATION; PREECLAMPSIA; PRIORITY JOURNAL; RUBINSTEIN SYNDROME; THUMB; CHROMATIN ASSEMBLY AND DISASSEMBLY; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; PATHOLOGY; PATHOPHYSIOLOGY; PREGNANCY;

ADULT; CHROMATIN ASSEMBLY AND DISASSEMBLY; CREB-BINDING PROTEIN; E1A-ASSOCIATED P300 PROTEIN; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PRE-ECLAMPSIA; PREGNANCY; RUBINSTEIN-TAYBI SYNDROME; SEQUENCE DELETION;

EID: 84988447945     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37940     Document Type: Article

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