Further delineation of the phenotype of chromosome 14q13 deletions: (Positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus

Journal of Medical Genetics

Volumn 49, Issue 6, 2012, Pages 366-372

  Santen, Gijs W E ^a   Sun, Yu ^a   Gijsbers, Antoinet C J ^a   Carré, Aurore ^b   Holvoet, Maureen ^c   van Haeringen, Arie ^a,d   Lesnik Oberstein, Saskia A J ^a   Tomoda, Akemi ^e   Mabe, Hiroyo ^f   Polak, Michel ^g   Devriendt, Koenraad ^c   Ruivenkamp, Claudia A L ^a   Bijlsma, Emilia K ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b INSTITUT GUSTAVE ROUSSY   (France)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d HAGA HOSPITAL   (Netherlands)

^e UNIVERSITY OF FUKUI   (Japan)

^f KUMAMOTO UNIVERSITY   (Japan)

^g UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

NOTCH1 RECEPTOR; PAROXETINE; TRANSCRIPTION FACTOR PAX9;

AMNIOCENTESIS; AORTA ANEURYSM; AORTA SUBVALVULAR STENOSIS; AORTA VALVE STENOSIS; ARTICLE; ATAXIA; BICUSPID AORTIC VALVE; BIRTH WEIGHT; CESAREAN SECTION; CHILD; CHOREOATHETOSIS; CHROMOSOME 14Q; CHROMOSOME DELETION; CHROMOSOME DELETION 14Q13; CHRONIC BRONCHITIS; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; CORPUS CALLOSUM AGENESIS; CORRELATION ANALYSIS; FATALITY; FEEDING; FEMALE; FETUS HEART RATE; FLUORESCENCE IN SITU HYBRIDIZATION; FOXG1 GENE; GENE; GENE MUTATION; GENOTYPE; GESTATIONAL AGE; HAPLOINSUFFICIENCY; HEART LEFT VENTRICLE OUTFLOW TRACT OBSTRUCTION; HEART VENTRICLE SEPTUM DEFECT; HOLOPROSENCEPHALY; HUMAN; HYPOTHYROIDISM; INTELLECTUAL IMPAIRMENT; KARYOTYPING; LUNG HEMORRHAGE; LUNG INFECTION; LUNG INSUFFICIENCY; MALE; MALOCCLUSION; MEDICAL LITERATURE; MICROCEPHALY; MOTOR DEVELOPMENT; MOTOR DYSFUNCTION; MOTOR PERFORMANCE; NEWBORN; NEWBORN SCREENING; NKX2-1 GENE; PALPEBRAL FISSURE; PHENOTYPE; PHYSICAL EXAMINATION; PNEUMONIA; PREECLAMPSIA; PRIORITY JOURNAL; RECURRENT DISEASE; RESPIRATORY DISTRESS; RESPIRATORY DISTRESS SYNDROME; RESPIRATORY FAILURE; RESTLESSNESS; SCHOOL CHILD; SHORT STATURE; SLEEP; ULTRASOUND; WEIGHT GAIN;

ADULT; CHILD; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 14; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HAPLOINSUFFICIENCY; HOLOPROSENCEPHALY; HUMANS; INFANT, NEWBORN; KARYOTYPING; MALE; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PAX9 TRANSCRIPTION FACTOR; PHENOTYPE; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS;

EID: 84864098588     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100721     Document Type: Article

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