Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype

Journal of Medical Genetics

Volumn 43, Issue 6, 2006, Pages 496-500

  Bendavid, C ^a,b,c,d   Haddad, B R ^c,d   Griffin, A ^a   Huizing, M ^a   Dubourg, C ^b   Gicquel, I ^b   Cavalli, L R ^c,d   Pasquier, L ^e   Shanske, A L ^f   Long, R ^a   Ouspenskaia, M ^a   Odent, S ^e   Lacbawan, F ^a   David, V ^b   Muenke, M ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b UNIVERSITÉ DE RENNES 1   (France)

^c GEORGETOWN UNIVERSITY   (United States)

^d GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

^e SERVICE DE RHUMATOLOGIE   (France)

^f CHILDREN S HOSPITAL AT MONTEFIORE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME DELETION; FLUORESCENCE IN SITU HYBRIDIZATION; HOLOPROSENCEPHALY; HUMAN; KARYOTYPE; LYMPHOBLASTOID CELL LINE; MAJOR CLINICAL STUDY; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

BASE SEQUENCE; CELL LINE; EYE PROTEINS; GENETIC SCREENING; HEDGEHOG PROTEINS; HEPATOCYTE NUCLEAR FACTOR 3-BETA; HOLOPROSENCEPHALY; HOMEODOMAIN PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; NERVE TISSUE PROTEINS; POLYMERASE CHAIN REACTION; REPRESSOR PROTEINS; SEQUENCE DELETION; TRANS-ACTIVATORS; TRANSCRIPTION FACTORS;

EID: 33744794452     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2005.037176     Document Type: Article

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