Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females

Human Molecular Genetics

Volumn 10, Issue 17, 2001, Pages 1775-1783

  Sheen, Volney L ^a,l   Dixon, Peter H ^b   Fox, Jeremy W ^a   Hong, Susan E ^a   Kinton, Lucy ^b   Sisodiya, Sanjay M ^b   Duncan, John S ^b   Dubeau, Francois ^c   Scheffer, Ingrid E ^d   Schachter, Steven C ^a   Wilner, Andrew ^e   Henchy, Ruth ^f   Crino, Peter ^g   Kamuro, Kazuhiro ^h   DiMario, Frances ⁱ   Berg, Michel ^j   Kuzniecky, Ruben ^k   Cole, Andrew J ^l   Bromfield, Edward ^m   Biber, Michael ^a   Schomer, Donald ^a   Wheless, James ⁿ   Silver, Kenneth ^o   Mochida, Ganeshwaran H ^a,l   Berkovic, Samuel F ^d   Andermann, Fred ^c   Andermann, Eva ^c   Dobyns, William B ^p   Wood, Nicholas W ^b   Walsh, Christopher A ^a,q   more..

^a HARVARD MEDICAL SCHOOL   (United States)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c MCGILL UNIVERSITY   (Canada)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e Americas Building   (United States)

^f Medical Clinic   (United States)

^g UNIVERSITY OF PENNSYLVANIA   (United States)

^h Kokubu Seikyo Hospital   (Japan)

ⁱ UNIVERSITY OF CONNECTICUT   (United States)

^j UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^k The University of Alabama at Birmingham   (United States)

^l MASSACHUSETTS GENERAL HOSPITAL   (United States)

^m BRIGHAM AND WOMEN S HOSPITAL   (United States)

ⁿ UNIVERSITY OF TEXAS   (United States)

^o LOYOLA UNIVERSITY MEDICAL CENTER   (United States)

^p UNIVERSITY OF CHICAGO   (United States)

^q HARVARD INSTITUTES OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

FILAMIN; FILAMIN A; UNCLASSIFIED DRUG;

ARTICLE; BRAIN CORTEX; BRAIN DEVELOPMENT; BRAIN DISEASE; BRAIN NERVE CELL; BRAIN VENTRICLE; CELL DIFFERENTIATION; CELL MIGRATION; CHROMOSOME MOSAICISM; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; EXON; FEMALE; GENE MUTATION; GENETIC CODE; HETEROTOPIA; HETEROZYGOTE; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PERIPHERAL LYMPHOCYTE; PREDICTION; PRIORITY JOURNAL; RADIODIAGNOSIS; SENSITIVITY AND SPECIFICITY; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOME;

EID: 0035880455     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.17.1775     Document Type: Article

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