ACNP - Italian Periodicals Catalogue

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Results: 1-25 | 26-50 | 51-73 |

Results: 51-73/73

SYSTEMATIC DELETION ANALYSIS OF MDS AND ILS PATIENTS EXCLUDES A CANDIDATE GENE AND DELINEATES THE LISSENCEPHALY GENE LOCUS

Authors: CHONG SS PACK S TANIGAMI A CARROZZO R DOBYNS WB LEDBETTER DH

Citation: Ss. Chong et al., SYSTEMATIC DELETION ANALYSIS OF MDS AND ILS PATIENTS EXCLUDES A CANDIDATE GENE AND DELINEATES THE LISSENCEPHALY GENE LOCUS, American journal of human genetics, 57(4), 1995, pp. 170-170

BILATERAL PERIVENTRICULAR NODULAR HETEROTOPIA, CEREBELLAR HYPOPLASIA,MENTAL-RETARDATION AND SYNDACTYLY - A MALFORMATION SYNDROME MAPPING TO CHROMOSOME XQ28

Authors: CZAPANSKYBEILMAN DK HIRSCH B PIERPONT MEM TRUWIT CL DOBYNS WB

Citation: Dk. Czapanskybeilman et al., BILATERAL PERIVENTRICULAR NODULAR HETEROTOPIA, CEREBELLAR HYPOPLASIA,MENTAL-RETARDATION AND SYNDACTYLY - A MALFORMATION SYNDROME MAPPING TO CHROMOSOME XQ28, American journal of human genetics, 57(4), 1995, pp. 472-472

COBBLESTONE LISSENCEPHALY ONLY (CLO) SYNDROME - EXCLUSION FROM CHROMOSOME 9Q31-32

Authors: DOBYNS WB PATTON MA STRATTON RF MASTROBATTISTA JM BLANTON SH NORTHRUP H

Citation: Wb. Dobyns et al., COBBLESTONE LISSENCEPHALY ONLY (CLO) SYNDROME - EXCLUSION FROM CHROMOSOME 9Q31-32, American journal of human genetics, 57(4), 1995, pp. 476-476

LOCALIZATION OF THE 3C SYNDROME OR A PHENOCOPY TO CHROMOSOME 1Q44-QTER

Authors: SMITH ACM DAYSALVATORE DL NING Y MACHA ME CHRISTIAN SL TURNER TH SCIORRA LJ DOBYNS WB LEDBETTER DH

Citation: Acm. Smith et al., LOCALIZATION OF THE 3C SYNDROME OR A PHENOCOPY TO CHROMOSOME 1Q44-QTER, American journal of human genetics, 57(4), 1995, pp. 1320-1320

CHILDHOOD STROKE AND LUPUS ANTICOAGULANT

Authors: OLSON JC KONKOL RJ GILL JC DOBYNS WB COULL BM

Citation: Jc. Olson et al., CHILDHOOD STROKE AND LUPUS ANTICOAGULANT, Pediatric neurology, 10(1), 1994, pp. 54-57

FISH DETECTION OF SUBMICROSCOPIC DELETIONS INVOLVING THE LIS1 GENE INPATIENTS WITH MILLER-DIEKER SYNDROME AND ISOLATED LISSENCEPHALY SEQUENCE

Authors: LEDBETTER DH CARROZZO R REINER O CASKEY CT DOBYNS WB

Citation: Dh. Ledbetter et al., FISH DETECTION OF SUBMICROSCOPIC DELETIONS INVOLVING THE LIS1 GENE INPATIENTS WITH MILLER-DIEKER SYNDROME AND ISOLATED LISSENCEPHALY SEQUENCE, Journal of cellular biochemistry, 1994, pp. 191-191

FREQUENT DELETIONS OF THE LIS1 GENE IN CLASSIC LISSENCEPHALY

Authors: DOBYNS WB CARROZZO R LEDBETTER DH

Citation: Wb. Dobyns et al., FREQUENT DELETIONS OF THE LIS1 GENE IN CLASSIC LISSENCEPHALY, Annals of neurology, 36(3), 1994, pp. 489-490

LINKAGE OF A GENE CAUSING FAMILIAL HOLOPROSENCEPHALY (HPE) TO CHROMOSOME 7Q36

Authors: MUENKE M GURRIERI F YI D BAY C COLLINS AL JOHNSON VP HENNEKAM RCM SCHAEFER GB LUBINSKY MS MOORE CA DOBYNS WB MURRAY JC PRICE RA

Citation: M. Muenke et al., LINKAGE OF A GENE CAUSING FAMILIAL HOLOPROSENCEPHALY (HPE) TO CHROMOSOME 7Q36, Cytogenetics and cell genetics, 65(1-2), 1994, pp. 70-71

IDIOPATHIC INTRACRANIAL HYPERTENSION AND FACIAL DIPLEGIA

Authors: SELKY AK DOBYNS WB YEE RD

Citation: Ak. Selky et al., IDIOPATHIC INTRACRANIAL HYPERTENSION AND FACIAL DIPLEGIA, Neurology, 44(2), 1994, pp. 357-357

LINKAGE OF A HUMAN BRAIN MALFORMATION, FAMILIAL HOLOPROSENCEPHALY, TOCHROMOSOME-7 AND EVIDENCE FOR GENETIC-HETEROGENEITY

Authors: MUENKE M GURRIERI F BAY C YI DH COLLINS AL JOHNSON VP HENNEKAM RCM SCHAEFER GB WEIK LA LUBINSKY MS DAACKHIRSCH S MOORE CA DOBYNS WB MURRAY JC PRICE RA

Citation: M. Muenke et al., LINKAGE OF A HUMAN BRAIN MALFORMATION, FAMILIAL HOLOPROSENCEPHALY, TOCHROMOSOME-7 AND EVIDENCE FOR GENETIC-HETEROGENEITY, Proceedings of the National Academy of Sciences of the United Statesof America, 91(17), 1994, pp. 8102-8106

BENIGN HEREDITARY CHOREA

Authors: WHEELER PG WEAVER DD DOBYNS WB

Citation: Pg. Wheeler et al., BENIGN HEREDITARY CHOREA, Pediatric neurology, 9(5), 1993, pp. 337-340

CLASSIFICATION OF THE CEREBROOCULOMUSCULAR SYNDROME(S) - COMMENTARY

Authors: DOBYNS WB

Citation: Wb. Dobyns, CLASSIFICATION OF THE CEREBROOCULOMUSCULAR SYNDROME(S) - COMMENTARY, Brain & development, 15(3), 1993, pp. 242-244

CLINICAL MANIFESTATIONS AND EVALUATION OF ISOLATED LISSENCEPHALY

Authors: PAVONE L RIZZO R DOBYNS WB

Citation: L. Pavone et al., CLINICAL MANIFESTATIONS AND EVALUATION OF ISOLATED LISSENCEPHALY, Child's nervous system, 9(7), 1993, pp. 387-390

ANTIBODIES TO ACTH IN OPSOCLONUS-MYOCLONUS

Authors: PRANZATELLI MR KAO PC TATE ED CHAVES E CHEZ M DOBYNS WB KANG H ROTHNER DA

Citation: Mr. Pranzatelli et al., ANTIBODIES TO ACTH IN OPSOCLONUS-MYOCLONUS, Neuropediatrics, 24(3), 1993, pp. 131-133

FAMILIAL REMITTING CHOREA, NYSTAGMUS, AND CATARACTS

Authors: WHEELER PG DOBYNS WB PLAGER DA ELLIS FD

Citation: Pg. Wheeler et al., FAMILIAL REMITTING CHOREA, NYSTAGMUS, AND CATARACTS, American journal of medical genetics, 47(8), 1993, pp. 1215-1217

LISSENCEPHALY - A HUMAN BRAIN MALFORMATION ASSOCIATED WITH DELETION OF THE LIS1 GENE LOCATED AT CHROMOSOME-17P13

Authors: DOBYNS WB REINER O CARROZZO R LEDBETTER DH

Citation: Wb. Dobyns et al., LISSENCEPHALY - A HUMAN BRAIN MALFORMATION ASSOCIATED WITH DELETION OF THE LIS1 GENE LOCATED AT CHROMOSOME-17P13, JAMA, the journal of the American Medical Association, 270(23), 1993, pp. 2838-2842

RAPID-ONSET DYSTONIA-PARKINSONISM

Authors: DOBYNS WB OZELIUS LJ KRAMER PL BRASHEAR A FARLOW MR PERRY TR WALSH LE KASARSKIS EJ BUTLER IJ BREAKEFIELD XO

Citation: Wb. Dobyns et al., RAPID-ONSET DYSTONIA-PARKINSONISM, Neurology, 43(4), 1993, pp. 350-350

RAPID-ONSET DYSTONIA-PARKINSONISM

Authors: DOBYNS WB OZELIUS LJ KRAMER PL BRASHEAR A FARLOW MR PERRY TR WALSH LE KASARSKIS EJ BUTLER IJ BREAKEFIELD XO

Citation: Wb. Dobyns et al., RAPID-ONSET DYSTONIA-PARKINSONISM, Neurology, 43(12), 1993, pp. 2596-2602

ISOLATION OF A MILLER-DIEKER LISSENCEPHALY GENE CONTAINING G-PROTEIN BETA-SUBUNIT-LIKE REPEATS

Authors: REINER O CARROZZO R SHEN Y WEHNERT M FAUSTINELLA F DOBYNS WB CASKEY CT LEDBETTER DH

Citation: O. Reiner et al., ISOLATION OF A MILLER-DIEKER LISSENCEPHALY GENE CONTAINING G-PROTEIN BETA-SUBUNIT-LIKE REPEATS, Nature, 364(6439), 1993, pp. 717-721

ISOLATION OF A GENE FOR MILLER-DIEKER LISSENCEPHALY, A HUMAN NEURONALMIGRATION DISORDER

Authors: REINER O CARROZZO R DOBYNS WB LEDBETTER DH CASKEY CT

Citation: O. Reiner et al., ISOLATION OF A GENE FOR MILLER-DIEKER LISSENCEPHALY, A HUMAN NEURONALMIGRATION DISORDER, American journal of human genetics, 53(3), 1993, pp. 19-19

ISOLATED LISSENCEPHALY SYNDROME - CONFIRMATION OF AUTOSOMAL RECESSIVEINHERITANCE

Authors: PENCARINHA DF SPENCE JE DOBYNS WB

Citation: Df. Pencarinha et al., ISOLATED LISSENCEPHALY SYNDROME - CONFIRMATION OF AUTOSOMAL RECESSIVEINHERITANCE, American journal of human genetics, 53(3), 1993, pp. 481-481

LINKAGE OF FAMILIAL HOLOPROSENCEPHALY TO CHROMOSOME-7Q36 - CLINICAL AND MOLECULAR STUDIES

Authors: MUENKE M GURRIERI F YI D BAY C COLLINS AL JOHNSON VP HENNEKAM RCM SCHAEFER GB WEIK J LUBINSKY MS DAACKHERSH S MOORE CA DOBYNS WB MURRAY JC PRICE RA

Citation: M. Muenke et al., LINKAGE OF FAMILIAL HOLOPROSENCEPHALY TO CHROMOSOME-7Q36 - CLINICAL AND MOLECULAR STUDIES, American journal of human genetics, 53(3), 1993, pp. 1048-1048

DORSAL INTERHEMISPHERIC SACS ARE COMMON FINDINGS IN AICARDI SYNDROME

Authors: DOBYNS WB RANDOLPH LM JARJOUR I MCPHERSON E

Citation: Wb. Dobyns et al., DORSAL INTERHEMISPHERIC SACS ARE COMMON FINDINGS IN AICARDI SYNDROME, American journal of human genetics, 53(3), 1993, pp. 1541-1541

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