Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model

Human Genetics

Volumn 130, Issue 5, 2011, Pages 645-655

  Brockschmidt, Antje ^a   Filippi, Alida ^b   Issa, Peter Charbel ^a,c   Nelles, Michael ^a   Urbach, Horst ^a   Eter, Nicole ^a,d   Driever, Wolfgang ^b   Weber, Ruthild G ^a  

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANTISENSE OLIGODEOXYNUCLEOTIDE; MORPHOLINO OLIGONUCLEOTIDE; BASIC HELIX LOOP HELIX LEUCINE ZIPPER TRANSCRIPTION FACTOR; TCF4 PROTEIN, HUMAN; TCF4 PROTEIN, ZEBRAFISH; TRANSCRIPTION FACTOR; ZEBRAFISH PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; ASCL1B GENE; ATOH1A GENE; ATOH2B GENE; BRAIN VENTRICLE; BRAIN VENTRICLE DILATATION; COMPARATIVE STUDY; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DIFFUSION TENSOR IMAGING; ELECTRORETINOGRAPHY; EMBRYO; EYE DISEASE; EYE EXAMINATION; GENE; GENE EXPRESSION; HUMAN; MENTAL DISEASE; MORPHOLOGY; MOTOR RETARDATION; MYELINATION; MYOPIA; NERVOUS SYSTEM DEVELOPMENT; NEUROG1 GENE; NEUROLOGIC DISEASE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PAX6A GENE; PHENOTYPE; PITT HOPKIN SYNDROME; PRIORITY JOURNAL; RETINA; RHOMBENCEPHALON; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; TCF4 GENE; ZEBRA FISH; ZIC1 GENE; ANIMAL; BRAIN; CASE REPORT; DISEASE MODEL; EYE; EYE MALFORMATION; FACIES; GENE DELETION; GENE SILENCING; GENETICS; GROWTH, DEVELOPMENT AND AGING; HYPERVENTILATION; INTELLECTUAL IMPAIRMENT; MYELINATED NERVE; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; RADIOGRAPHY; ULTRASTRUCTURE;

DANIO RERIO;

ANIMALS; BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; BRAIN; DISEASE MODELS, ANIMAL; ELECTRORETINOGRAPHY; EYE; EYE ABNORMALITIES; FACIES; GENE DELETION; GENE KNOCKDOWN TECHNIQUES; HUMANS; HYPERVENTILATION; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; NERVE FIBERS, MYELINATED; NEUROGENESIS; RETINA; TRANSCRIPTION FACTORS; ZEBRAFISH; ZEBRAFISH PROTEINS;

EID: 84856491887     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-011-0999-4     Document Type: Article

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