Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Human Genetics

Volumn 136, Issue 4, 2017, Pages 463-479

  Depienne, Christel ^a,b,c,d,ao   Nava, Caroline ^c,d,ao   Keren, Boris ^c,d   Heide, Solveig ^d   Rastetter, Agnès ^c   Passemard, Sandrine ^e,f   Chantot Bastaraud, Sandra ^g   Moutard, Marie Laure ^c,g,h   Agrawal, Pankaj B ⁱ   VanNoy, Grace ⁱ   Stoler, Joan M ⁱ   Amor, David J ^j,k   Billette de Villemeur, Thierry ^c,f,g,l   Doummar, Diane ^g,h   Alby, Caroline ^m,n   Cormier Daire, Valérie ^m,n   Garel, Catherine ^g   Marzin, Pauline ^d   Scheidecker, Sophie ^b   de Saint Martin, Anne ^a,o   Hirsch, Edouard ^a,o   Korff, Christian ^p   Bottani, Armand ^p   Faivre, Laurence ^q,r   Verloes, Alain ^e   Orzechowski, Christine ^s   Burglen, Lydie ^f,g   Leheup, Bruno ^t   Roume, Joelle ^u   Andrieux, Joris ^v   Sheth, Frenny ^w   Datar, Chaitanya ^x   Parker, Michael J ^y   Pasquier, Laurent ^z   Odent, Sylvie ^z,aa   Naudion, Sophie ^ab   Delrue, Marie Ange ^ab,ac   Le Caignec, Cédric ^f,ad   Vincent, Marie ^ad   Isidor, Bertrand ^f,ad   Renaldo, Florence ^e,g   Stewart, Fiona ^ae   Toutain, Annick ^af   Koehler, Udo ^ag   Häckl, Birgit ^ah   von Stülpnagel, Celina ^ah   Kluger, Gerhard ^ah,ai   Møller, Rikke S ^aj,ak,ao   Pal, Deb ^al,ao   Jonson, Tord ^am   Soller, Maria ^am   Verbeek, Nienke E ^an   van Haelst, Mieke M ^an   de Kovel, Carolien ^an   Koeleman, Bobby ^an,ao   Monroe, Glen ^an   van Haaften, Gijs ^an   Attié Bitach, Tania ^m,n   Boutaud, Lucile ^m,n   Héron, Delphine ^d,l   Mignot, Cyril ^d,l,ao   more..

^a UNIVERSITÉ DE STRASBOURG   (France)

^b UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e HÔPITAL ROBERT DEBRÉ   (France)

^f INSERM   (France)

^g ARMAND TROUSSEAU HOSPITAL   (France)

^h Centre de Reference des Maladies Neurogenetiques de l'Enfant et de l'Adulte   (France)

ⁱ BOSTON CHILDREN S HOSPITAL   (United States)

^j ROYAL CHILDREN'S HOSPITAL   (Australia)

^k UNIVERSITY OF MELBOURNE   (Australia)

^l Centre de Référence déficiences intellectuelles de causes rares   (France)

^m IMAGINE INSTITUTE   (France)

ⁿ HÔPITAL NECKER ENFANTS MALADES   (France)

^o HÔPITAL DE HAUTEPIERRE   (France)

^p GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^q UNIVERSITÉ DE BOURGOGNE   (France)

^r DIJON UNIVERSITY HOSPITAL   (France)

^s Service de Pédiatrie   (France)

^t CHU NANCY BRABOIS   (France)

^u Department of Reproductive Biology Cytogenetics Gynaecology and Obstetrics   (France)

^v LILLE UNIVERSITY HOSPITAL   (France)

^w FRIGE Institute of Human Genetics   (India)

^x Sahyadari Medical Genetics and Tissue engineering facility (SMGTEF)   (India)

^y NORTHERN GENERAL HOSPITAL   (United Kingdom)

^z RENNES UNIVERSITY HOSPITAL   (France)

^aa UNIVERSITÉ DE RENNES 1   (France)

^ab HÔPITAL PELLEGRIN   (France)

^ac BORDEAUX UNIVERSITY HOSPITAL   (France)

^ad NANTES UNIVERSITY HOSPITAL   (France)

^ae BELFAST CITY HOSPITAL   (United Kingdom)

^af UNIVERSITY HOSPITAL OF TOURS   (France)

^ag Medizinisch Genetisches Zentrum   (Germany)

^ah Hospital for Neuropediatrics and Neurological Rehabilitation   (Germany)

^ai PARACELSUS MEDICAL UNIVERSITY   (Austria)

^aj DANISH EPILEPSY CENTRE   (Denmark)

^ak UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^al KING'S COLLEGE LONDON   (United Kingdom)

^am LUND UNIVERSITY HOSPITAL   (Sweden)

^an UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^ao EuroEPINOMICS RES consortium   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AKT3 KINASE; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN U; PROTEIN SERINE THREONINE KINASE; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; ZBTB1 PROTEIN; ZINC FINGER PROTEIN; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; REPRESSOR PROTEIN; ZNF238 PROTEIN, HUMAN;

1Q43Q44 MICRODELETION SYNDROME; ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 1Q; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL STUDY; COMPARATIVE STUDY; CONTROLLED STUDY; CORPUS CALLOSUM; DEVELOPMENTAL DELAY; DEVELOPMENTAL DISORDER; EPISTASIS; FEMALE; GENOTYPE PHENOTYPE CORRELATION; HAPLOINSUFFICIENCY; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MENTAL DISEASE; MOLECULAR PATHOLOGY; NEXT GENERATION SEQUENCING; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; YOUNG ADULT; CHROMOSOME 1; GENETICS; MUTATION; PHENOTYPE;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; HETEROGENEOUS-NUCLEAR RIBONUCLEOPROTEINS; HUMANS; MUTATION; NEURODEVELOPMENTAL DISORDERS; PHENOTYPE; REPRESSOR PROTEINS;

EID: 85014814557     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-017-1772-0     Document Type: Article

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