Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5Mb on chromosome 2q14.1-q14.2

European Journal of Human Genetics

Volumn 17, Issue 8, 2009, Pages 1024-1033

  David, Dezso ^a   Marques, Bárbara ^a   Ferreira, Cristina ^a   Vieira, Paula ^a   Corona Rivera, Alfredo ^b   Ferreira, José Carlos ^c   van Bokhoven, Hans ^d  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^b UNIVERSITY OF GUADALAJARA   (Mexico)

^c HOSPITAL GARCIA DE ORTA   (Portugal)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; HOMEOBOX PROTEIN ENGRAILED 1; HOMEODOMAIN PROTEIN; INHIBIN B; INHIBIN BETA B; INSULIN INDUCED PROTEIN 2; TRANSCRIPTION FACTOR GLI2; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CHROMOSOME 11; CHROMOSOME 2Q; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION 2; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOGENETICS; DISEASE ASSOCIATION; ECTRODACTYLY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCATION; GENE MAPPING; GENETIC SCREENING; HOLOPROSENCEPHALY; HUMAN; HYPERTELORISM; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL;

CASE-CONTROL STUDIES; CELLS, CULTURED; CHROMOSOME BREAKAGE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 2; CYTOGENETIC ANALYSIS; DNA MUTATIONAL ANALYSIS; FEMALE; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HOMEODOMAIN PROTEINS; HUMANS; INFANT, NEWBORN; INHIBIN-BETA SUBUNITS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MEMBRANE PROTEINS; NUCLEAR PROTEINS; PREGNANCY; TRANSLOCATION, GENETIC;

BACTERIA (MICROORGANISMS);

EID: 67749094763     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.2     Document Type: Article

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