Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;q11.2) associated with hypospadias and anorectal malformation

Human Genetics

Volumn 119, Issue 1-2, 2006, Pages 162-168

  Mansouri, Mahmoud Reza ^a   Carlsson, Birgit ^a   Davey, Edward ^a   Nordenskjöld, Agneta ^b   Wester, Tomas ^c   Annerén, Göran ^a   Läckgren, Göran ^d   Dahl, Niklas ^a  

^a UPPSALA UNIVERSITY   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c UNIVERSITY CHILDREN S HOSPITAL   (Sweden)

^d UPPSALA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Anal atresia; Balanced reciprocal translocation; Hypospadias

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; HYBRID PROTEIN; PROTEIN KINASE; PROTEIN LHFPL5; PROTEIN SRPK1; PROTEIN TAOK1; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ANORECTAL MALFORMATION; ANUS ATRESIA; ARTICLE; CASE REPORT; CHROMOSOME DELETION; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION 17; CHROMOSOME TRANSLOCATION 6; CLINICAL FEATURE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DISRUPTION; GENE EXPRESSION; GENETIC CODE; HUMAN; HYPOSPADIAS; INTRON; KIDNEY HYPOPLASIA; MALE; MOLECULAR GENETICS; MOLECULAR MECHANICS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SEQUENCE ANALYSIS; SOUTHERN BLOTTING; URETHRA FISTULA;

ABNORMALITIES, MULTIPLE; ANAL CANAL; BASE SEQUENCE; CHILD; CHROMOSOME BREAKAGE; CHROMOSOMES, HUMAN, PAIR 17; CHROMOSOMES, HUMAN, PAIR 6; FEMALE; GENE EXPRESSION PROFILING; HUMANS; HYPOSPADIAS; MALE; MUTANT CHIMERIC PROTEINS; RECTUM; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; TRANSLOCATION, GENETIC;

FISTULA;

EID: 33644530711     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-005-0122-9     Document Type: Article

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