Loss-of-function de novo mutations play an important role in severe human neural tube defects

Journal of Medical Genetics

Volumn 52, Issue 7, 2015, Pages 493-497

  Lemay, Philippe ^a   Guyot, Marie Claude ^a   Tremblay, Élizabeth ^a   Dionne Laporte, Alexandre ^b   Spiegelman, Dan ^b   Henrion, Édouard ^b   Diallo, Ousmane ^b   De Marco, Patrizia ^c   Merello, Elisa ^c   Massicotte, Christine ^a   Désilets, Valérie ^a   Michaud, Jacques L ^a   Rouleau, Guy A ^b   Capra, Valeria ^c   Kibar, Zoha ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c G GASLINI INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN BINDING PROTEIN; DEAD BOX PROTEIN; FOLIC ACID; GRHL3 PROTEIN; PTPRS PROTEIN; SHROOM3 PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PAX3; UNCLASSIFIED DRUG; DNA BINDING PROTEIN; GRHL3 PROTEIN, HUMAN; PAIRED BOX TRANSCRIPTION FACTOR; PAX3 PROTEIN, HUMAN; PTPRS PROTEIN, HUMAN; RECEPTOR LIKE PROTEIN TYROSINE PHOSPHATASE; SHROOM3 PROTEIN, HUMAN;

ANENCEPHALUS; ARNOLD CHIARI MALFORMATION; ARTICLE; CLEFT LIP; CLEFT PALATE; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DE NOVO MUTATION; DNA SEQUENCE; EXOME; FACE DYSMORPHIA; FALSE NEGATIVE RESULT; FEMALE; GENE FREQUENCY; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYDROCEPHALUS; HYPOCALCEMIA; LOSS OF FUNCTION MUTATION; MALE; MENINGOMYELOCELE; MENTAL DEFICIENCY; NEURAL TUBE DEFECT; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; SHORT STATURE; STOP CODON; VAN DER WOUDE SYNDROME; WAARDENBURG SYNDROME; WILLIAMS BEUREN SYNDROME; DNA MUTATIONAL ANALYSIS; GENETICS; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE;

ANIMALIA;

BASE SEQUENCE; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EXOME; HUMANS; MICROFILAMENT PROTEINS; MOLECULAR SEQUENCE DATA; NEURAL TUBE DEFECTS; PAIRED BOX TRANSCRIPTION FACTORS; RECEPTOR-LIKE PROTEIN TYROSINE PHOSPHATASES, CLASS 2; TRANSCRIPTION FACTORS;

EID: 84935120268     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103027     Document Type: Article

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