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Results: 1-25 | 26-50 | 51-73
Results: 1-25/73
HUMAN DOUBLECORTIN (DCX) AND THE HOMOLOGOUS GENE IN MOUSE ENCODE A PUTATIVE CA2-DEPENDENT SIGNALING PROTEIN WHICH IS MUTATED IN HUMAN X-LINKED NEURONAL MIGRATION DEFECTS()
Authors: SOSSEYALAOUI K HARTUNG AJ GUERRINI R MANCHESTER DK POSAR A PUCHEMIRA A ANDERMANN E DOBYNS WB SRIVASTAVA AK
Citation: K. Sosseyalaoui et al., HUMAN DOUBLECORTIN (DCX) AND THE HOMOLOGOUS GENE IN MOUSE ENCODE A PUTATIVE CA2-DEPENDENT SIGNALING PROTEIN WHICH IS MUTATED IN HUMAN X-LINKED NEURONAL MIGRATION DEFECTS(), Human molecular genetics (Print), 7(8), 1998, pp. 1327-1332
CHILD NEUROLOGIST AS EXPERT WITNESS - A REPORT OF THE ETHICS AND PRACTICE COMMITTEES OF THE CHILD-NEUROLOGY-SOCIETY
Authors: ASHWAL S BALE JF BAUMAN ML CANTOR HE COULTER DL DIMARIO FJ DOBYNS WB EIBEN RM GARG BP HILL A KAPLAN AM KAUFMAN D KERR SL KUBAN K LEICHER CR MCBRIDE MC MYER EC NORDGREN RE SCHUB HS SHEWMON DA SHEVELL MI SILVERBOARD G SNYDER RD SUNDER TR TRAUNER DA TURK W URION DK WALKER RW ZIMMERMAN AW ZUPANC ML ELTERMAN RD BACHMAN DN GARG BP GRABERT BE JREISAT KF LAVENSTEIN B LEVIN JR NOETZEL MJ REILLY T SCHIMSCHOCK JR SINGER HS SNYDER RD TAYLOR DA WALSH DJ WHELAN MA ZELLER RS
Citation: S. Ashwal et al., CHILD NEUROLOGIST AS EXPERT WITNESS - A REPORT OF THE ETHICS AND PRACTICE COMMITTEES OF THE CHILD-NEUROLOGY-SOCIETY, Journal of child neurology, 13(8), 1998, pp. 398-401
BILATERAL PERIVENTRICULAR LAMINAR HETEROTOPIA - A DISTINCT AUTOSOMAL-RECESSIVE DISORDER OF NEURONAL MIGRATION
Authors: CLARK GD TILTON AH TREADWELLDEERING D GUERRINI R DOBYNS WB
Citation: Gd. Clark et al., BILATERAL PERIVENTRICULAR LAMINAR HETEROTOPIA - A DISTINCT AUTOSOMAL-RECESSIVE DISORDER OF NEURONAL MIGRATION, Annals of neurology, 44(3), 1998, pp. 62-62
CEREBROSPINAL-FLUID HOMOVANILLIC-ACID LEVELS IN RAPID-ONSET DYSTONIA-PARKINSONISM
Authors: BRASHEAR A BUTLER IJ HYLAND K FARLOW MR DOBYNS WB
Citation: A. Brashear et al., CEREBROSPINAL-FLUID HOMOVANILLIC-ACID LEVELS IN RAPID-ONSET DYSTONIA-PARKINSONISM, Annals of neurology, 43(4), 1998, pp. 521-526
MICROLISSENCEPHALY - A HETEROGENEOUS MALFORMATION OF CORTICAL DEVELOPMENT
Authors: BARKOVICH AJ FERRIERO DM BARR RM GRESSENS P DOBYNS WB TRUWIT CL EVRARD P
Citation: Aj. Barkovich et al., MICROLISSENCEPHALY - A HETEROGENEOUS MALFORMATION OF CORTICAL DEVELOPMENT, Neuropediatrics, 29(3), 1998, pp. 113-119
DOUBLECORTIN, A BRAIN-SPECIFIC GENE MUTATED IN HUMAN X-LINKED LISSENCEPHALY AND DOUBLE CORTEX SYNDROME, ENCODES A PUTATIVE SIGNALING PROTEIN
Authors: GLEESON JG ALLEN KM FOX JW LAMPERTI ED BERKOVIC S SCHEFFER I COOPER EC DOBYNS WB MINNERATH SR ROSS ME WALSH CA
Citation: Jg. Gleeson et al., DOUBLECORTIN, A BRAIN-SPECIFIC GENE MUTATED IN HUMAN X-LINKED LISSENCEPHALY AND DOUBLE CORTEX SYNDROME, ENCODES A PUTATIVE SIGNALING PROTEIN, Cell, 92(1), 1998, pp. 63-72
BILATERAL PERIVENTRICULAR NODULAR HETEROTOPIA WITH MENTAL-RETARDATIONAND FRONTONASAL MALFORMATION
Authors: GUERRINI R DOBYNS WB
Citation: R. Guerrini et Wb. Dobyns, BILATERAL PERIVENTRICULAR NODULAR HETEROTOPIA WITH MENTAL-RETARDATIONAND FRONTONASAL MALFORMATION, Neurology, 51(2), 1998, pp. 499-503
CLINICAL, OCULOMOTOR AND POSTURAL STUDIES DISTINGUISH BETWEEN SCA-5 AND SCA-6
Authors: ANDERSON JH SCHUT LJ RANUM LPW DOBYNS WB GOMEZ CM
Citation: Jh. Anderson et al., CLINICAL, OCULOMOTOR AND POSTURAL STUDIES DISTINGUISH BETWEEN SCA-5 AND SCA-6, Neurology, 50(4), 1998, pp. 3122-3122
CLASSICAL LISSENCEPHALY SYNDROMES - DOES THE FACE REFLECT THE BRAIN
Authors: ALLANSON JE LEDBETTER DH DOBYNS WB
Citation: Je. Allanson et al., CLASSICAL LISSENCEPHALY SYNDROMES - DOES THE FACE REFLECT THE BRAIN, Journal of Medical Genetics, 35(11), 1998, pp. 920-923
AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA (SCA6) ASSOCIATED WITH SMALL POLYGLUTAMINE EXPANSIONS IN THE ALPHA(1A)-VOLTAGE-DEPENDENT CALCIUM-CHANNEL
Authors: ZHUCHENKO O BAILEY J BONNEN P ASHIZAWA T STOCKTON DW AMOS C DOBYNS WB SUBRAMONY SH ZOGHBI HY LEE CC
Citation: O. Zhuchenko et al., AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA (SCA6) ASSOCIATED WITH SMALL POLYGLUTAMINE EXPANSIONS IN THE ALPHA(1A)-VOLTAGE-DEPENDENT CALCIUM-CHANNEL, Nature genetics, 15(1), 1997, pp. 62-69
MUTATIONS AND POLYMORPHISMS IN THE TUBEROUS SCLEROSIS COMPLEX GENE ONCHROMOSOME-16
Authors: AU KS RODRIGUEZ JA RODRIGUEZ E DOBYNS WB DELGADO MR NORTHRUP H
Citation: Ks. Au et al., MUTATIONS AND POLYMORPHISMS IN THE TUBEROUS SCLEROSIS COMPLEX GENE ONCHROMOSOME-16, Human mutation, 9(1), 1997, pp. 23-29
LINKAGE AND PHYSICAL MAPPING OF X-LINKED LISSENCEPHALY SBH (XLIS) - AGENE CAUSING NEURONAL MIGRATION DEFECTS IN HUMAN BRAIN/
Authors: ROSS ME ALLEN KM SRIVASTAVA AK FEATHERSTONE T GLEESON JG HIRSCH B HARDING BN ANDERMANN E ABDULLAH R BERG M CZAPANSKYBIELMAN D FLANDERS DJ GUERRINI R MOTTE J MIRA AP SCHEFFER I BERKOVIC S SCARAVILLI F KING RA LEDBETTER DH SCHLESSINGER D DOBYNS WB WALSH CA
Citation: Me. Ross et al., LINKAGE AND PHYSICAL MAPPING OF X-LINKED LISSENCEPHALY SBH (XLIS) - AGENE CAUSING NEURONAL MIGRATION DEFECTS IN HUMAN BRAIN/, Human molecular genetics, 6(4), 1997, pp. 555-562
A REVISION OF THE LISSENCEPHALY AND MILLER-DIEKER SYNDROME CRITICAL REGIONS IN CHROMOSOME 17P13.3
Authors: CHONG SS PACK SD ROSCHKE AV TANIGAMI A CARROZZO R SMITH ACM DOBYNS WB LEDBETTER DH
Citation: Ss. Chong et al., A REVISION OF THE LISSENCEPHALY AND MILLER-DIEKER SYNDROME CRITICAL REGIONS IN CHROMOSOME 17P13.3, Human molecular genetics, 6(2), 1997, pp. 147-155
POINT MUTATIONS AND AN INTRAGENIC DELETION IN LIS1, THE LISSENCEPHALYCAUSATIVE GENE IN ISOLATED LISSENCEPHALY SEQUENCE AND MILLER-DIEKER SYNDROME
Authors: LONIGRO C CHONG SS SMITH ACM DOBYNS WB CARROZZO R LEDBETTER DH
Citation: C. Lonigro et al., POINT MUTATIONS AND AN INTRAGENIC DELETION IN LIS1, THE LISSENCEPHALYCAUSATIVE GENE IN ISOLATED LISSENCEPHALY SEQUENCE AND MILLER-DIEKER SYNDROME, Human molecular genetics, 6(2), 1997, pp. 157-164
VALPROATE-INDUCED LIVER-FAILURE IN ONE OF 2 SIBLINGS WITH ALPERS-DISEASE
Authors: SCHWABE MJ DOBYNS WB BURKE B ARMSTRONG DL
Citation: Mj. Schwabe et al., VALPROATE-INDUCED LIVER-FAILURE IN ONE OF 2 SIBLINGS WITH ALPERS-DISEASE, Pediatric neurology, 16(4), 1997, pp. 337-343
SPINOCEREBELLAR ATAXIA TYPE-6 - GAZE-EVOKED AND VERTICAL NYSTAGMUS, PURKINJE-CELL DEGENERATION, AND VARIABLE AGE-OF-ONSET
Authors: GOMEZ CM THOMPSON RM GAMMACK JT PERLMAN SL DOBYNS WB TRUWIT CL ZEE DS CLARK HB ANDERSON JH
Citation: Cm. Gomez et al., SPINOCEREBELLAR ATAXIA TYPE-6 - GAZE-EVOKED AND VERTICAL NYSTAGMUS, PURKINJE-CELL DEGENERATION, AND VARIABLE AGE-OF-ONSET, Annals of neurology, 42(6), 1997, pp. 933-950
MACROCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA - A DISTINCT DISORDER WITH DEVELOPMENTAL DELAY AND CONNECTIVE-TISSUE ABNORMALITIES
Authors: MOORE CA TORIELLO HV ABUELO DN BULL MJ CURRY CJR HALL BD HIGGINS JV STEVENS CA TWERSKY S WEKSBERG R DOBYNS WB
Citation: Ca. Moore et al., MACROCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA - A DISTINCT DISORDER WITH DEVELOPMENTAL DELAY AND CONNECTIVE-TISSUE ABNORMALITIES, American journal of medical genetics, 70(1), 1997, pp. 67-73
SPECTRUM OF CLINICAL AND MR FEATURES OF X-LISSENCEPHALY SUBCORTICAL BAND HETEROTOPIA IN 20 PATIENTS
Authors: MICHEL E DOBYNS WB TRUWIT CL
Citation: E. Michel et al., SPECTRUM OF CLINICAL AND MR FEATURES OF X-LISSENCEPHALY SUBCORTICAL BAND HETEROTOPIA IN 20 PATIENTS, Radiology, 205, 1997, pp. 775-775
BILATERAL PERIVENTRICULAR NODULAR HETEROTOPIA - CLINICAL AND NEUROIMAGING FINDINGS IN 26 PATIENTS
Authors: KUO JS DOBYNS WB TRUWIT CL
Citation: Js. Kuo et al., BILATERAL PERIVENTRICULAR NODULAR HETEROTOPIA - CLINICAL AND NEUROIMAGING FINDINGS IN 26 PATIENTS, Radiology, 205, 1997, pp. 776-776
BILATERAL PERIVENTRICULAR NODULAR HETEROTOPIA WITH MENTAL-RETARDATIONAND SYNDACTYLY IN BOYS - A NEW X-LINKED MENTAL-RETARDATION SYNDROME
Authors: DOBYNS WB GUERRINI R CZAPANSKYBEILMAN DK PIERPONT MEM BRENINGSTALL G YOCK DH BONANNI P TRUWIT CL
Citation: Wb. Dobyns et al., BILATERAL PERIVENTRICULAR NODULAR HETEROTOPIA WITH MENTAL-RETARDATIONAND SYNDACTYLY IN BOYS - A NEW X-LINKED MENTAL-RETARDATION SYNDROME, Neurology, 49(4), 1997, pp. 1042-1047
RAPID-ONSET DYSTONIA-PARKINSONISM IN A 2ND FAMILY
Authors: BRASHEAR A DELEON D BRESSMAN SB THYAGARAJAN D FARLOW MR DOBYNS WB
Citation: A. Brashear et al., RAPID-ONSET DYSTONIA-PARKINSONISM IN A 2ND FAMILY, Neurology, 48(4), 1997, pp. 1066-1069
[C-11] CFT PET IN RAPID-ONSET DYSTONIA-PARKINSONISM
Authors: BRASHEAR A MULHOLLAND GK QIHUANG Z FARLOW MR SIEMERS ER DOBYNS WB HUTCHINS G
Citation: A. Brashear et al., [C-11] CFT PET IN RAPID-ONSET DYSTONIA-PARKINSONISM, Neurology, 48(3), 1997, pp. 1116-1116
LINKAGE STUDIES OF WALKER-WARBURG SYNDROME (WWS) AND CHROMOSOME 9Q31-32
Authors: NORTHRUP H RODRIGUEZ E AU KS BLANTON S DOBYNS WB
Citation: H. Northrup et al., LINKAGE STUDIES OF WALKER-WARBURG SYNDROME (WWS) AND CHROMOSOME 9Q31-32, Annals of Human Genetics, 61, 1997, pp. 218-219
FISH ANALYSIS IN 100 PATIENTS WITH ISOLATED-LISSENCEPHALY-SEQUENCE (ILS) - LIS1 PROBES SIGNIFICANTLY INCREASE DELETION DETECTION RATE
Authors: PILZ DT MACHA ME PRECHT KS DOBYNS WB SMITH ACM LEDBETTER DH
Citation: Dt. Pilz et al., FISH ANALYSIS IN 100 PATIENTS WITH ISOLATED-LISSENCEPHALY-SEQUENCE (ILS) - LIS1 PROBES SIGNIFICANTLY INCREASE DELETION DETECTION RATE, American journal of human genetics, 61(4), 1997, pp. 162-162
EARLY RECOGNITION OF MILLER-DIEKER-SYNDROME
Authors: MENDELSOHN NJ LUDOWESE CJ LUSSKY RC DOBYNS WB
Citation: Nj. Mendelsohn et al., EARLY RECOGNITION OF MILLER-DIEKER-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 600-600
Risultati: 1-25 | 26-50 | 51-73