Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis

Clinical Genetics

Volumn 73, Issue 5, 2008, Pages 453-464

  Barbaro, M ^a   Cicognani, A ^b   Balsamo, A ^b   Lofgren A ^c   Baldazzi, L ^b   Wedell, Anna ^a   Oscarson, M ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c HELSINGBORG HOSPITAL   (Sweden)

Author keywords

Disorders of sex development (DSD); Gonadal dysgenesis; Multiple ligationdependent probe amplification (MLPA); NR0B1; Sex reversal; SRD5A2

Indexed keywords

NUCLEAR RECEPTOR DAX 1; STEROID 5ALPHA REDUCTASE 2;

ADOLESCENT; ARTICLE; CHROMOSOME XP; CONTROLLED STUDY; DNA SEQUENCE; ECHOGRAPHY; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENE LOCUS; GENE PROBE; GENETIC SCREENING; GONADAL DYSGENESIS; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; PRIORITY JOURNAL; TESTIS BIOPSY;

DNA-BINDING PROTEINS; FEMALE; GENE AMPLIFICATION; GENE DOSAGE; GENE DUPLICATION; GONADAL DYSGENESIS, 46,XY; HUMANS; MALE; NUCLEIC ACID AMPLIFICATION TECHNIQUES; OLIGONUCLEOTIDE PROBES; RECEPTORS, RETINOIC ACID; REPRESSOR PROTEINS;

EID: 42049115947     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.00980.x     Document Type: Article

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