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Results: 1-25 | 26-44 |
Results: 26-44/44
LIS2, GENE AND PSEUDOGENE, HOMOLOGOUS TO LIS1 (LISSENCEPHALY-1), LOCATED ON THE SHORT AND LONG ARMS OF CHROMOSOME-2
Authors: REINER O BARAM I SAPIR T SHMUELI O CARROZZO R LINDSAY EA BALDINI A LEDBETTER DH CAHANA A
Citation: O. Reiner et al., LIS2, GENE AND PSEUDOGENE, HOMOLOGOUS TO LIS1 (LISSENCEPHALY-1), LOCATED ON THE SHORT AND LONG ARMS OF CHROMOSOME-2, Genomics, 30(2), 1995, pp. 251-256
AN AT-DELETION CAUSING A FRAMESHIFT IN THE ARYLSULFATASE-A GENE OF A LATE INFANTILE METACHROMATIC LEUKODYSTROPHY PATIENT
Authors: REGIS S CARROZZO R FILOCAMO M SERRA G MASTROPAOLO C GATTI R
Citation: S. Regis et al., AN AT-DELETION CAUSING A FRAMESHIFT IN THE ARYLSULFATASE-A GENE OF A LATE INFANTILE METACHROMATIC LEUKODYSTROPHY PATIENT, Human genetics, 96(2), 1995, pp. 233-235
DE-NOVO TANDEM DUPLICATION OF CHROMOSOME SEGMENT 22QLL-Q12 - CLINICAL, CYTOGENETIC, AND MOLECULAR CHARACTERIZATION
Authors: LINDSAY EA SHAFFER LG CARROZZO R GREENBERG F BALDINI A
Citation: Ea. Lindsay et al., DE-NOVO TANDEM DUPLICATION OF CHROMOSOME SEGMENT 22QLL-Q12 - CLINICAL, CYTOGENETIC, AND MOLECULAR CHARACTERIZATION, American journal of medical genetics, 56(3), 1995, pp. 296-299
SKELETAL-MUSCLE HISTOLOGY AND METABOLISM IN PATIENTS WITH EFFORT ANGINA - EFFECT OF PROPIONYL-L-CARNITINE
Authors: BREVETTI G FANIN M CARROZZO R DEAMICIS V DILELLO F DIIORIO A MARTONE VD ANGELINI C
Citation: G. Brevetti et al., SKELETAL-MUSCLE HISTOLOGY AND METABOLISM IN PATIENTS WITH EFFORT ANGINA - EFFECT OF PROPIONYL-L-CARNITINE, Circulation, 92(8), 1995, pp. 379-379
MTDNA MUTATIONS ASSOCIATED WITH LEBER HEREDITARY OPTIC NEUROPATHY - STUDIES ON CYTOPLASMIC HYBRID (CYBRID) CELLS
Authors: VERGANI L MARTINUZZI A CARELLI V CORTELLI P MONTAGNA P SCHIEVANO G CARROZZO R ANGELINI C LUGARESI E
Citation: L. Vergani et al., MTDNA MUTATIONS ASSOCIATED WITH LEBER HEREDITARY OPTIC NEUROPATHY - STUDIES ON CYTOPLASMIC HYBRID (CYBRID) CELLS, Biochemical and biophysical research communications, 210(3), 1995, pp. 880-888
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
PHYSICAL MAPPING OF 100 STSS AND 31 YACS AND ISOLATION OF 3 NEW SIMPLE-SEQUENCE REPEAT POLYMORPHIC MARKERS IN CHROMOSOME BAND 17P13
Authors: TANIGAMI A ROSCHKE A NING Y HUANG B CHONG S CARROZZO R CHANDRASEKHARAPPA S CHINAULT AC NAKAMURA Y LEDBETTER DH
Citation: A. Tanigami et al., PHYSICAL MAPPING OF 100 STSS AND 31 YACS AND ISOLATION OF 3 NEW SIMPLE-SEQUENCE REPEAT POLYMORPHIC MARKERS IN CHROMOSOME BAND 17P13, American journal of human genetics, 57(4), 1995, pp. 1577-1577
OLFACTORY RECEPTOR GENE-CLUSTER ON HUMAN-CHROMOSOME-17 - POSSIBLE DUPLICATION OF AN ANCESTRAL RECEPTOR REPERTOIRE
Authors: BENARIE N LANCET D TAYLOR C KHEN M WALKER N LEDBETTER DH CARROZZO R PATEL K SHEER D LEHRACH H NORTH MA
Citation: N. Benarie et al., OLFACTORY RECEPTOR GENE-CLUSTER ON HUMAN-CHROMOSOME-17 - POSSIBLE DUPLICATION OF AN ANCESTRAL RECEPTOR REPERTOIRE, Human molecular genetics, 3(2), 1994, pp. 229-235
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
MOLECULAR ANALYSIS IN PATIENTS WITH PRADE R-WILLI AND ANGELMAN SYNDROMES
Authors: CARROZZO R TONLORENZI R MAZZOTTI R PEZZOLO A CINTI R GATTI R
Citation: R. Carrozzo et al., MOLECULAR ANALYSIS IN PATIENTS WITH PRADE R-WILLI AND ANGELMAN SYNDROMES, Rivista italiana di pediatria, 20(6), 1994, pp. 677-682
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
LIS2 GENE AND PSEUDOGENE, LOCATED ON THE SHORT AND LONG ARM OF CHROMOSOME-2
Authors: REINER O BARAM I SAPIR T CARROZZO R LINDSAY EA BALDINI A LEDBETTER DH CASKEY CT GALGERBER O
Citation: O. Reiner et al., LIS2 GENE AND PSEUDOGENE, LOCATED ON THE SHORT AND LONG ARM OF CHROMOSOME-2, Cytogenetics and cell genetics, 67(4), 1994, pp. 243-243
MOLECULAR CHARACTERIZATION OF MYOPHOSPHORYLASE DEFICIENCY IN ITALIAN PATIENTS
Authors: MARTINUZZI A TSUJINO S BARTOLONI L CARROZZO R SHANSKE S DIMAURO S ANGELINI C
Citation: A. Martinuzzi et al., MOLECULAR CHARACTERIZATION OF MYOPHOSPHORYLASE DEFICIENCY IN ITALIAN PATIENTS, Neurology, 44(4), 1994, pp. 10000284-10000285
LIS1, A GENE DELETED IN LISSENCEPHALY, A HUMAN NEURONAL MIGRATION DISORDER - GENE ISOLATION AND EXPRESSION
Authors: REINER O ALBRECHT U CARROZZO R WONG C LEDBETTER DH EICHELE G BUCHBERG AM CASKEY CT
Citation: O. Reiner et al., LIS1, A GENE DELETED IN LISSENCEPHALY, A HUMAN NEURONAL MIGRATION DISORDER - GENE ISOLATION AND EXPRESSION, Journal of neurochemistry, 63, 1994, pp. 190000003-190000003
DINUCLEOTIDE REPEAT POLYMORPHISM MAPPING TO THE CRITICAL REGION FOR LISSENCEPHALY (17P13.3)
Authors: CARROZZO R LEDBETTER DH
Citation: R. Carrozzo et Dh. Ledbetter, DINUCLEOTIDE REPEAT POLYMORPHISM MAPPING TO THE CRITICAL REGION FOR LISSENCEPHALY (17P13.3), Human molecular genetics, 2(5), 1993, pp. 615-615
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
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
EXPRESSION OF MUSCLE-TYPE PHOSPHORYLASE IN INNERVATED AND ANEURAL CULTURED MUSCLE OF PATIENTS WITH MYOPHOSPHORYLASE DEFICIENCY
Authors: MARTINUZZI A VERGANI L CARROZZO R FANIN M BARTOLONI L ANGELINI C ASKANAS V ENGEL WK
Citation: A. Martinuzzi et al., EXPRESSION OF MUSCLE-TYPE PHOSPHORYLASE IN INNERVATED AND ANEURAL CULTURED MUSCLE OF PATIENTS WITH MYOPHOSPHORYLASE DEFICIENCY, The Journal of clinical investigation, 92(4), 1993, pp. 1774-1780
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
Risultati: 1-25 | 26-44 |