Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

European Journal of Human Genetics

Volumn 19, Issue 6, 2011, Pages 717-720

  Jensen, Lars R ^a   Chen, Wei ^a   Moser, Bettina ^a   Lipkowitz, Bettina ^a   Schroeder, Christopher ^b   Musante, Luciana ^a   Tzschach, Andreas ^a   Kalscheuer, Vera M ^a   Meloni, Ilaria ^c   Raynaud, Martine ^d   Van Esch, Hilde ^e   Chelly, Jamel ^f   De Brouwer, Arjan P M ^g   Hackett, Anna ^h   Van Der Haar, Sigrun ⁱ   Henn, Wolfram ^j   Gecz, Jozef ^k   Riess, Olaf ^b   Bonin, Michael ^b   Reinhardt, Richard ^a   Ropers, Hans Hilger ^a   Kuss, Andreas W ^a,l   more..

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c UNIVERSITY OF SIENA   (Italy)

^d INSERM   (France)

^e UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^f CNRS   (France)

^g RADBOUD UNIVERSITY   (Netherlands)

^h GOLD Service   (Australia)

ⁱ Practice for Gynaecology and Medical Genetics   (Germany)

^j SAARLAND UNIVERSITY   (Germany)

^k UNIVERSITY OF ADELAIDE   (Australia)

^l UNIVERSITY OF GREIFSWALD   (Germany)

more..

Author keywords

array based resequencing; automated PCR; mutation analysis; X linked intellectual disability; X linked mental retardation

Indexed keywords

ACYLCOA SYNTHETASE LONG CHAIN FAMILY MEMBER 4 GENE; ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME X LINKED GENE; ARISTALESS RELATED HOMEOBOX GENE; ARTICLE; CONTROLLED STUDY; DISCS LARGE HOMOLOG 3 (NEUROENDOCRINE DLG DROSOPHILA) GENE; FTSJ HOMOLOG 1 GENE; GDP DISSOCIATION INHIBITOR 1 GENE; GENE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; HYBRIDIZATION; INTELLECTUAL IMPAIRMENT; INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN LIKE 1 GENE; JUMONJI AT RICH INTERACTIVE DOMAIN 1 C GENE; MAJOR CLINICAL STUDY; MALE; METHYL CPG BINDING PROTEIN 2 (RETT SYNDROME) GENE; NEUROLIGIN 4 X LINKED GENE; NUCLEOTIDE SEQUENCE; P21 (CDKN1A) ACTIVATED KINASE 3 GENE; PHD FINGER PROTEIN 6 GENE; PHD FINGER PROTEIN 8 GENE; POLYGLUTAMINE BINDING PROTEIN 1 GENE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER CREATINE) MEMBER 8 GENE; TETRASPANIN 7 GENE; X LINKED INTELLECTUAL DISABILITY; X LINKED MENTAL RETARDATION; ZINC FINGER PROTEIN 41 GENE;

CARRIER PROTEINS; CHROMOSOMES, HUMAN, X; DNA HELICASES; FEMALE; GENES, X-LINKED; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; HYBRIDIZATION, GENETIC; MALE; MENTAL RETARDATION, X-LINKED; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PEDIGREE; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORT PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 79956308970     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.244     Document Type: Article

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