Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations

Investigative Ophthalmology and Visual Science

Volumn 52, Issue 1, 2011, Pages 324-333

  D'haene, Barbara ^a   Meire, Françoise ^b   Claerhout, Ilse ^a   Kroes, Hester Y ^c   Plomp, Astrid ^d,e   Arens, Yvonne H ^f   de Ravel, Thomy ^g   Casteels, Ingele ^g   de Jaegere, Sarah ^a   Hooghe, Sally ^a   Wuyts, Wim ^h   van den Ende, Jenneke ^h   Roulez, Françoise ^b   Veenstra Knol, Hermine E ⁱ   Oldenburg, Rogier A ^j   Giltay, Jacques ^c   Verheij, Johanna B G M ^b   de Faber, Jan Tjeerd ^k   Menten, Björn ^a   de Paepe, Anne ^a   Kestelyn, Philippe ^a   Leroy, Bart P ^a   de Baere, Elfride ^a   more..

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^f MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^g UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^h UNIVERSITY OF ANTWERP   (Belgium)

ⁱ UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^j ERASMUS MEDICAL CENTER   (Netherlands)

^k ROTTERDAM EYE HOSPITAL   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; PYRUVATE DEHYDROGENASE PHOSPHATASE; PYRUVATE DEHYDROGENASE PHOSPHATASE 2; SPLICING FACTOR SF2 ASSOCIATED PROTEIN; TRANSCRIPTION FACTOR FOXC1; TRANSCRIPTION FACTOR FOXC2; TRANSCRIPTION FACTOR PITX2; TRANSCRIPTION FACTOR PITX2A; UNCLASSIFIED DRUG; FORKHEAD TRANSCRIPTION FACTOR; FOXC1 PROTEIN, HUMAN; HOMEODOMAIN PROTEIN; MITOCHONDRIAL P32 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN; TRANSCRIPTION FACTOR;

3' UNTRANSLATED REGION; ADOLESCENT; ADULT; ANTERIOR SEGMENT DYSGENESIS; ARTICLE; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; COPY NUMBER VARIATION; EYE MALFORMATION; FEMALE; GENE; GENE DELETION; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENOME SIZE; HEARING IMPAIRMENT; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MOLECULAR PATHOLOGY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE PHOSPHATASE 2 GENE; SCHOOL CHILD; SEQUENCE ANALYSIS; SPLICING FACTOR SF2 ASSOCIATED PROTEIN GENE; TRANSCRIPTION FACTOR FOXC2 GENE; ANTERIOR EYE SEGMENT; CONGENITAL MALFORMATION; GENE DOSAGE; GENETICS; MIDDLE AGED; MUTATION; NUCLEIC ACID AMPLIFICATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD;

3' UNTRANSLATED REGIONS; ADOLESCENT; ADULT; ANTERIOR EYE SEGMENT; CHILD; CHILD, PRESCHOOL; EYE ABNORMALITIES; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENE DOSAGE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL PROTEINS; MUTATION; NUCLEIC ACID AMPLIFICATION TECHNIQUES; POLYMERASE CHAIN REACTION; TRANSCRIPTION FACTORS;

EID: 79952261278     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.10-5309     Document Type: Article

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