Location and type of mutation in the LIS1 gene do not predict phenotypic severity

Neurology

Volumn 69, Issue 5, 2007, Pages 442-447

  Uyanik, G ^a   Morris Rosendahl, D J ^d   Stiegler, J ^a   Klapecki, J ^d   Gross, C ^b   Berman, Y ^w   Martin, P ^f   Dey, L ^d   Spranger, S ^g   Korenke, G C ^h   Schreyer, I ⁱ   Hertzberg, C ^j   Neumann, T E ^k   Burkart, P ^l   Spaich, C ^m   Meng, M ^e   Holthausen, H ⁿ   Ades L ^w   Seidel, J ⁱ   Mangold, E ^o   Buyse, G ^x   Meinecke, P ^p   Schara, U ^q   Zeschnigk, C ^d   Muller, D ^r   Helland, G ^y   Schulze, B ^s   Wright, M L ^t   Kortge Jung, S ^u   Hehr, A ^b   Bogdahn, U ^a   Schuierer, G ^c   Kohlhase, J ^v   Aigner, L ^a   Wolff, G ^d   Hehr, U ^b   Winkler, J ^a   more..

^a UNIVERSITY OF REGENSBURG   (Germany)

^b Center for Human Genetics   (Germany)

^c Institute of Neuroradiology   (Germany)

^d UNIVERSITY OF FREIBURG   (Germany)

^e St Josefs Hospital   (Germany)

^f Epilepsy Center Kork   (Germany)

^g Human Genetics   (Germany)

^h KLINIKUM OLDENBURG   (Germany)

ⁱ FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

^j VIVANTES KLINIKUM NEUKÖLLN   (Germany)

^k UNIVERSITY OF MÜNSTER   (Germany)

^l CARITAS KRANKENHAUS   (Germany)

^m Institute of Human Genetics

ⁿ Epilepsy Center for Children and Adolescents   (Germany)

^o UNIVERSITY OF BONN   (Germany)

^p Altonaer Kinderkrankenhaus   (Germany)

^q City Hospital Neuss

^r Institute of Medical Genetics

^s Human Genetics   (Germany)

^t Children's Hospital Park Schonfeld   (Germany)

^u Institute of Prenatal Medicine and Genetics   (Germany)

^v INSTITUTE OF MOTHER AND CHILD   (Poland)

^w CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^x UNIVERSITY OF LEUVEN   (Belgium)

^y Levanger Hospital   (Norway)

more..

Author keywords

[No Author keywords available]

Indexed keywords

LIS1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; 1 ALKYL 2 ACETYLGLYCEROPHOSPHOCHOLINE ESTERASE; MICROTUBULE ASSOCIATED PROTEIN; PAFAH1B1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGYRIA; ARTICLE; AUTOSOME MOSAICISM; BRAIN MALFORMATION; CARBOXY TERMINAL SEQUENCE; CEREBELLUM HYPOPLASIA; CHILD; CLINICAL ARTICLE; CLINICAL ASSESSMENT; DISEASE ASSOCIATION; DISEASE SEVERITY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HETEROTOPIA; HUMAN; INFANT; MALE; MORPHOLOGICAL TRAIT; NONSENSE MUTATION; OCCIPITAL LOBE; PACHYGYRIA; PARIETAL LOBE; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; PROTEIN DOMAIN; BRAIN CORTEX; CELL MOTION; CEREBELLUM; CHORISTOMA; CONGENITAL MALFORMATION; GENETIC MARKER; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; GENOTYPE; METABOLISM; MUTATION; NERVOUS SYSTEM MALFORMATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PENETRANCE; PRESCHOOL CHILD;

1-ALKYL-2-ACETYLGLYCEROPHOSPHOCHOLINE ESTERASE; ADOLESCENT; ADULT; CELL MOVEMENT; CEREBELLUM; CEREBRAL CORTEX; CHILD; CHILD, PRESCHOOL; CHORISTOMA; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HUMANS; INFANT; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MUTATION; NERVOUS SYSTEM MALFORMATIONS; PENETRANCE; PHENOTYPE;

EID: 34548074971     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000266629.98503.d0     Document Type: Article

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