Disease associated balanced chromosome rearragements: A resource for large scale genotype-phenotype delineation in man

Journal of Medical Genetics

Volumn 37, Issue 11, 2000, Pages 858-865

  Bugge, M ^a   Niebuhr, E ^a   Rasmussen, K R ^a   Rasmussen, K ⁱ   Tommerup, N ^a   Bruun Petersen, G ^b   Brondum Nielsen, K ^c   Friedrich, U ^d   Hansen, J ^e   Jensen, G ^f,h   Jensen, P K A ^e   Kristoffersson, U ^g   Lundsteen, C ^h  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b LILLEBAELT HOSPITAL   (Denmark)

^c JOHN F KENNEDY INSTITUTE   (Denmark)

^d AARHUS UNIVERSITY   (Denmark)

^e AARHUS UNIVERSITY HOSPITAL   (Denmark)

^f FREDERIKSBERG HOSPITAL   (Denmark)

^g LUND UNIVERSITY HOSPITAL   (Sweden)

^h Rigshospitalet   (Denmark)

ⁱ ODENSE UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Abnormal phenotypes; Frequency; Inversion; Translocations

Indexed keywords

ARTICLE; ATAXIA; AUTISM; BONE DYSPLASIA; CHROMOSOME 9; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME INVERSION; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CONGENITAL MALFORMATION; DENMARK; DISEASE ASSOCIATION; FEMALE INFERTILITY; GENE FREQUENCY; GENE INACTIVATION; GENE MUTATION; GENETIC LINKAGE; GENETIC SCREENING; GENOTYPE; HEALTH CARE FACILITY; HUMAN; LABORATORY; MAJOR CLINICAL STUDY; MALE INFERTILITY; MENTAL RETARDATION MALFORMATION SYNDROME; NAIL PATELLA SYNDROME; PATHOGENESIS; PHENOTYPE; POPULATION RESEARCH; PRADER WILLI SYNDROME; PRIORITY JOURNAL; SWEDEN; SYNDROME; ULNA;

CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; DENMARK; FEMALE; GENOTYPE; HUMANS; INVERSION, CHROMOSOME; MALE; MASS SCREENING; PHENOTYPE; SWEDEN; TRANSLOCATION, GENETIC;

ATAXIA; ROBERTSONIA;

EID: 0033746705     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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