Array-CGH in unclear syndromic nephropathies identifies a microdeletion in Xq22.3-q23

Pediatric Nephrology

Volumn 24, Issue 9, 2009, Pages 1673-1681

  Hoischen, Alexander ^a   Landwehr, Christina ^a   Kabisch, Sarah ^b   Ding, Xiao Qi ^c   Trost, Detlef ^a   Stropahl, Gerhard ^b   Wigger, Marianne ^b   Radlwimmer, Bernhard ^d   Weber, Ruthild G ^a   Haffner, Dieter ^b  

^a UNIVERSITY OF BONN   (Germany)

^b ROSTOCK UNIVERSITY MEDICAL CENTER   (Germany)

^c HANNOVER MEDICAL SCHOOL   (Germany)

^d GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

Author keywords

Alport syndrome; Array CGH; Genetics; Mental retardation; Microarray; Microdeletion; Nephropathy

Indexed keywords

COLLAGEN TYPE 4; COLLAGEN TYPE 4ALPHA5; COLLAGEN TYPE 4ALPHA6; DOUBLECORTIN X LINKED; LONG CHAIN FATTY ACID COENZYME A LIGASE; LONG CHAIN FATTY ACID COENZYME A LIGASE 4; NEUROPEPTIDE; P21 ACTIVATED KINASE 3; UNCLASSIFIED DRUG;

ADOLESCENT; ALPORT SYNDROME; ARTICLE; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME LOSS; CHROMOSOME XQ; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MICROARRAY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; HEARING LOSS; HEMATURIA; HUMAN; HUMAN TISSUE; KIDNEY BIOPSY; KIDNEY DISEASE; MALE; MENTAL DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEINURIA; X CHROMOSOME INACTIVATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; BRAIN; CHROMOSOMES, HUMAN, X; COMPARATIVE GENOMIC HYBRIDIZATION; DNA; FEMALE; GENE DELETION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KIDNEY DISEASES; MAGNETIC RESONANCE IMAGING; MALE; NEPHRITIS, HEREDITARY; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SYNDROME; UROGENITAL ABNORMALITIES;

EID: 68449096155     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-009-1184-z     Document Type: Article

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