A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia - Evaluation of DSEL as a candidate gene for the diaphragmatic defect

American Journal of Medical Genetics, Part A

Volumn 152, Issue 4, 2010, Pages 916-923

  Zayed, Hatem ^a   Chao, Ryan ^a   Moshrefi, Ali ^a   LopezJimenez, Nelson ^a   Delaney, Allen ^b   Chen, Justin ^a   Shaw, Gary M ^c   Slavotinek, Anne M ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b BRITISH COLUMBIA CANCER RESEARCH CENTRE   (Canada)

^c STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Chromosome 18q22.1; Decorin; Diaphragmatic hernia; Dsel

Indexed keywords

CADHERIN; CADHERIN 19; DECORIN; DERMATAN SULFATE EPIMERASE LIKE; EPIMERASE; GENOMIC DNA; THIOREDOXIN; THIOREDOXIN DOMAIN CONTAINING 10; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CCDC 102 B GENE; CDH 19 GENE; CELL DIFFERENTIATION; CHILD; CHROMOSOME 18Q; CHROMOSOME DELETION; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL DIAPHRAGM HERNIA; CONTROLLED STUDY; DNA SEQUENCE; DSEL GENE; EMBRYO; EXTRACHROMOSOMAL INHERITANCE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENE MAPPING; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MICROPHTHALMIA; MISSENSE MUTATION; MOUSE; MYOBLAST; NONHUMAN; ONSET AGE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; THORAX RADIOGRAPHY; TXNDC 10 GENE;

AGE OF ONSET; AMINO ACID SUBSTITUTION; ANIMALS; BASE PAIRING; BASE SEQUENCE; CELL DIFFERENTIATION; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 18; DIAPHRAGM; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EMBRYO, MAMMALIAN; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HERNIA, DIAPHRAGMATIC; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INHERITANCE PATTERNS; MALE; MICE; MICROPHTHALMOS; MOLECULAR SEQUENCE DATA; MOTHERS; NUCLEIC ACID HYBRIDIZATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

MURINAE;

EID: 77950437128     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33341     Document Type: Article

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