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Results: 1-25 | 26-35
Results: 1-25/35
A FREQUENT TG DELETION NEAR THE POLYADENYLATION SIGNAL OF THE HUMAN HEXB GENE - OCCURRENCE OF AN IRREGULAR DNA-STRUCTURE AND CONSERVED NUCLEOTIDE-SEQUENCE MOTIF IN THE 3'-UNTRANSLATED REGION
Authors: KLEIMAN FE RAMIREZ AO AKERMAN B DEKREMER RD GRAVEL RA ARGARANA CE
Citation: Fe. Kleiman et al., A FREQUENT TG DELETION NEAR THE POLYADENYLATION SIGNAL OF THE HUMAN HEXB GENE - OCCURRENCE OF AN IRREGULAR DNA-STRUCTURE AND CONSERVED NUCLEOTIDE-SEQUENCE MOTIF IN THE 3'-UNTRANSLATED REGION, Human mutation, 12(5), 1998, pp. 320-329
CLONING OF THE CDNA AND GENE ENCODING MOUSE LYSOSOMAL SIALIDASE AND CORRECTION OF SIALIDASE DEFICIENCY IN HUMAN SIALIDOSIS AND MOUSE SM J FIBROBLASTS/
Authors: IGDOURA SA GAFUIK C MERTINEIT C SABERI F PSHEZHETSKY AV POTIER M TRASLER JM GRAVEL RA
Citation: Sa. Igdoura et al., CLONING OF THE CDNA AND GENE ENCODING MOUSE LYSOSOMAL SIALIDASE AND CORRECTION OF SIALIDASE DEFICIENCY IN HUMAN SIALIDOSIS AND MOUSE SM J FIBROBLASTS/, Human molecular genetics, 7(1), 1998, pp. 115-120
CLONING AND MAPPING OF A CDNA FOR METHIONINE SYNTHASE REDUCTASE, A FLAVOPROTEIN DEFECTIVE IN PATIENTS WITH HOMOCYSTINURIA
Authors: LECLERC D WILSON A DUMAS R GAFUIK C SONG D WATKINS D HENG HHQ ROMMENS JM SCHERER SW ROSENBLATT DS GRAVEL RA
Citation: D. Leclerc et al., CLONING AND MAPPING OF A CDNA FOR METHIONINE SYNTHASE REDUCTASE, A FLAVOPROTEIN DEFECTIVE IN PATIENTS WITH HOMOCYSTINURIA, Proceedings of the National Academy of Sciences of the United Statesof America, 95(6), 1998, pp. 3059-3064
CHARACTERIZATION OF THE TESTIS AND EPIDIDYMIS IN MOUSE MODELS OF HUMAN TAY-SACHS AND SANDHOFF-DISEASES AND PARTIAL DETERMINATION OF ACCUMULATED GANGLIOSIDES
Authors: TRASLER J SABERI F SOMANI IH ADAMALI HI HUANG JQ FORTUNATO SR RITTER G GU M AEBERSOLD R GRAVEL RA HERMO L
Citation: J. Trasler et al., CHARACTERIZATION OF THE TESTIS AND EPIDIDYMIS IN MOUSE MODELS OF HUMAN TAY-SACHS AND SANDHOFF-DISEASES AND PARTIAL DETERMINATION OF ACCUMULATED GANGLIOSIDES, Endocrinology, 139(7), 1998, pp. 3280-3288
FUNCTIONALLY NULL MUTATIONS IN PATIENTS WITH THE CBLG-VARIANT FORM OFMETHIONINE SYNTHASE DEFICIENCY
Authors: WILSON A LECLERC D SABERI F CAMPEAU E HWANG HY SHANE B PHILLIPS JA ROSENBLATT DS GRAVEL RA
Citation: A. Wilson et al., FUNCTIONALLY NULL MUTATIONS IN PATIENTS WITH THE CBLG-VARIANT FORM OFMETHIONINE SYNTHASE DEFICIENCY, American journal of human genetics, 63(2), 1998, pp. 409-414
BETA-HEXOSAMINIDASE IMMUNOLOCALIZATION AND ALPHA-SUBUNIT AND BETA-SUBUNIT GENE-EXPRESSION IN THE RAT TESTIS AND EPIDIDYMIS
Authors: HERMO L ADAMALI HI MAHURAN D GRAVEL RA TRASLER JM
Citation: L. Hermo et al., BETA-HEXOSAMINIDASE IMMUNOLOCALIZATION AND ALPHA-SUBUNIT AND BETA-SUBUNIT GENE-EXPRESSION IN THE RAT TESTIS AND EPIDIDYMIS, Molecular reproduction and development, 46(3), 1997, pp. 227-242
APOPTOTIC CELL-DEATH IN MOUSE MODELS OF G(M2) GANGLIOSIDOSIS AND OBSERVATIONS ON HUMAN TAY-SACHS AND SANDHOFF-DISEASES
Authors: HUANG JQ TRASLER JM IGDOURA S MICHAUD J HANAI N GRAVEL RA
Citation: Jq. Huang et al., APOPTOTIC CELL-DEATH IN MOUSE MODELS OF G(M2) GANGLIOSIDOSIS AND OBSERVATIONS ON HUMAN TAY-SACHS AND SANDHOFF-DISEASES, Human molecular genetics, 6(11), 1997, pp. 1879-1885
ASSIGNMENT OF HOLOCARBOXYLASE SYNTHETASE GENE (HLCS) TO HUMAN-CHROMOSOME BAND 21Q22.1 AND TO MOUSE CHROMOSOME BAND 16C4 BY IN-SITU HYBRIDIZATION
Authors: ZHANG XX LEONDELRIO A GRAVEL RA EYDOUX P
Citation: Xx. Zhang et al., ASSIGNMENT OF HOLOCARBOXYLASE SYNTHETASE GENE (HLCS) TO HUMAN-CHROMOSOME BAND 21Q22.1 AND TO MOUSE CHROMOSOME BAND 16C4 BY IN-SITU HYBRIDIZATION, Cytogenetics and cell genetics, 76(3-4), 1997, pp. 179-179
IDENTIFICATION OF CANDIDATE ACTIVE-SITE RESIDUES IN LYSOSOMAL BETA-HEXOSAMINIDASE-A
Authors: FERNANDES MJG YEW S LECLERC D HENRISSAT B VORGIAS CE GRAVEL RA HECHTMAN P KAPLAN F
Citation: Mjg. Fernandes et al., IDENTIFICATION OF CANDIDATE ACTIVE-SITE RESIDUES IN LYSOSOMAL BETA-HEXOSAMINIDASE-A, The Journal of biological chemistry, 272(2), 1997, pp. 814-820
MOLECULAR-CLONING OF MOUSE LYSOSOMAL SIALIDASE CDNA, GENOMIC STRUCTURE AND EXPRESSION IN MOUSE AND HUMAN SIALIDASE-DEFICIENT FIBROBLASTS
Authors: IGDOURA SA GAFUIK C MERTINEIT C SABERI F PSHEZHETSKY A POTIER M TRASLER JM GRAVEL RA
Citation: Sa. Igdoura et al., MOLECULAR-CLONING OF MOUSE LYSOSOMAL SIALIDASE CDNA, GENOMIC STRUCTURE AND EXPRESSION IN MOUSE AND HUMAN SIALIDASE-DEFICIENT FIBROBLASTS, American journal of human genetics, 61(4), 1997, pp. 1007-1007
CAUSAL MUTATIONS IN SIBLINGS WITH THE CBLG VARIANT FORM OF METHIONINESYNTHASE DEFICIENCY
Authors: WILSON A LECLERC D SABERI F PHILLIPS JA PFOTENHAUER JP ROSENBLATT DS GRAVEL RA
Citation: A. Wilson et al., CAUSAL MUTATIONS IN SIBLINGS WITH THE CBLG VARIANT FORM OF METHIONINESYNTHASE DEFICIENCY, American journal of human genetics, 61(4), 1997, pp. 1534-1534
NOVEL MUTATIONS AND DNA-BASED SCREENING IN NON-JEWISH CARRIERS OF TAY-SACHS-DISEASE
Authors: AKERMAN BR NATOWICZ MR KABACK MM LOYER M CAMPEAU E GRAVEL RA
Citation: Br. Akerman et al., NOVEL MUTATIONS AND DNA-BASED SCREENING IN NON-JEWISH CARRIERS OF TAY-SACHS-DISEASE, American journal of human genetics, 60(5), 1997, pp. 1099-1106
G(M2) ACTIVATOR PROTEIN EXPRESSION AND LOCALIZATION IN THE MALE REPRODUCTIVE-TRACT OF ADULT NORMAL AND HEXOSAMINIDASE A-DEFICIENT MICE
Authors: ADAMALI HI MAHURAN D HUANG JQ GRAVEL RA TRASLER JM HERMO L
Citation: Hi. Adamali et al., G(M2) ACTIVATOR PROTEIN EXPRESSION AND LOCALIZATION IN THE MALE REPRODUCTIVE-TRACT OF ADULT NORMAL AND HEXOSAMINIDASE A-DEFICIENT MICE, Molecular biology of the cell, 7, 1996, pp. 725-725
CLUSTERING OF MUTATIONS IN THE BIOTIN-BINDING REGION OF HOLOCARBOXYLASE SYNTHETASE IN BIOTIN-RESPONSIVE MULTIPLE CARBOXYLASE DEFICIENCY
Authors: DUPUIS L LEONDELRIO A LECLERC D CAMPEAU E SWEETMAN L SAUDUBRAY JM HERMAN G GIBSON KM GRAVEL RA
Citation: L. Dupuis et al., CLUSTERING OF MUTATIONS IN THE BIOTIN-BINDING REGION OF HOLOCARBOXYLASE SYNTHETASE IN BIOTIN-RESPONSIVE MULTIPLE CARBOXYLASE DEFICIENCY, Human molecular genetics, 5(7), 1996, pp. 1011-1016
HUMAN METHIONINE SYNTHASE - CDNA CLONING AND IDENTIFICATION OF MUTATIONS IN PATIENTS OF THE CBLG COMPLEMENTATION GROUP OF FOLATE COBALAMIN DISORDERS/
Authors: LECLERC D CAMPEAU E GOYETTE P ADJALLA CE CHRISTENSEN B ROSS M EYDOUX P ROSENBLATT DS ROZEN R GRAVEL RA
Citation: D. Leclerc et al., HUMAN METHIONINE SYNTHASE - CDNA CLONING AND IDENTIFICATION OF MUTATIONS IN PATIENTS OF THE CBLG COMPLEMENTATION GROUP OF FOLATE COBALAMIN DISORDERS/, Human molecular genetics, 5(12), 1996, pp. 1867-1874
DRAMATICALLY DIFFERENT PHENOTYPES IN MOUSE MODELS OF HUMAN TAY-SACHS AND SANDHOFF DISEASES
Authors: PHANEUF D WAKAMATSU N HUANG JQ BOROWSKI A PETERSON AC FORTUNATO SR RITTER G IGDOURA SA MORALES CR BENOIT G AKERMAN BR LECLERC D HANAI N MARTH JD TRASLER JM GRAVEL RA
Citation: D. Phaneuf et al., DRAMATICALLY DIFFERENT PHENOTYPES IN MOUSE MODELS OF HUMAN TAY-SACHS AND SANDHOFF DISEASES, Human molecular genetics, 5(1), 1996, pp. 1-14
POSTNATAL DEVELOPMENTAL PROFILE OF BETA-HEXOSAMINIDASE EXPRESSION IN THE RAT EPIDIDYMIS
Authors: ADAMALI HI MAHURAN D GRAVEL RA TRASLER JN HERMO L
Citation: Hi. Adamali et al., POSTNATAL DEVELOPMENTAL PROFILE OF BETA-HEXOSAMINIDASE EXPRESSION IN THE RAT EPIDIDYMIS, The FASEB journal, 10(3), 1996, pp. 1494-1494
DIFFERING ABNORMALITIES IN THE TESTIS AND EPIDIDYMIS IN MOUSE MODELS OF HUMAN TAY-SACHS AND SANDHOFF DISEASES
Authors: TRASLER J SABERI F SOMANI IH ADAMALI HI MAHURAN D HUANG JQ GRAVEL RA HERMO L
Citation: J. Trasler et al., DIFFERING ABNORMALITIES IN THE TESTIS AND EPIDIDYMIS IN MOUSE MODELS OF HUMAN TAY-SACHS AND SANDHOFF DISEASES, Biology of reproduction, 54, 1996, pp. 151-151
REGION AND CELL-SPECIFIC ABNORMALITIES IN THE EPIDIDYMIS OF A GENE KNOCKOUT MOUSE MODEL OF HUMAN TAY-SACHS-DISEASE
Authors: ADAMALI HI SOMANI IH HUANG JQ GRAVEL RA TRASLER JM HERMO L
Citation: Hi. Adamali et al., REGION AND CELL-SPECIFIC ABNORMALITIES IN THE EPIDIDYMIS OF A GENE KNOCKOUT MOUSE MODEL OF HUMAN TAY-SACHS-DISEASE, Biology of reproduction, 54, 1996, pp. 212-212
DONOR SPLICE-SITE MUTATION IN INTRON-5 OF THE HEXA GENE IN A TURKISH INFANT WITH TAY-SACHS-DISEASE
Authors: OZKARA HA AKERMAN BR CILIV G TOPCU M RENDA Y GRAVEL RA
Citation: Ha. Ozkara et al., DONOR SPLICE-SITE MUTATION IN INTRON-5 OF THE HEXA GENE IN A TURKISH INFANT WITH TAY-SACHS-DISEASE, Human mutation, 5(2), 1995, pp. 186-187
BETA-HEXOSAMINIDASE LOCALIZATION IN THE ADULT-RAT TESTIS AND EPIDIDYMIS
Authors: HERMO L ADAMALI HI MAHURAN D GRAVEL RA TRASLER JM
Citation: L. Hermo et al., BETA-HEXOSAMINIDASE LOCALIZATION IN THE ADULT-RAT TESTIS AND EPIDIDYMIS, Molecular biology of the cell, 6, 1995, pp. 2484-2484
INTERALLELIC COMPLEMENTATION OF BETA-SUBUNIT DEFECTS IN FIBROBLASTS OF PATIENTS WITH PROPIONYL-COA CARBOXYLASE DEFICIENCY MICROINJECTED WITH MUTANT CDNA CONSTRUCTS
Authors: LOYER M LECLERC D GRAVEL RA
Citation: M. Loyer et al., INTERALLELIC COMPLEMENTATION OF BETA-SUBUNIT DEFECTS IN FIBROBLASTS OF PATIENTS WITH PROPIONYL-COA CARBOXYLASE DEFICIENCY MICROINJECTED WITH MUTANT CDNA CONSTRUCTS, Human molecular genetics, 4(6), 1995, pp. 1035-1039
A 2ND, LARGE DELETION IN THE HEXB GENE IN A PATIENT WITH INFANTILE SANDHOFF-DISEASE
Authors: ZHANG ZX WAKAMATSU N AKERMAN BR MULES EH THOMAS GH GRAVEL RA
Citation: Zx. Zhang et al., A 2ND, LARGE DELETION IN THE HEXB GENE IN A PATIENT WITH INFANTILE SANDHOFF-DISEASE, Human molecular genetics, 4(4), 1995, pp. 777-780
ISOLATION OF A CDNA-ENCODING HUMAN HOLOCARBOXYLASE SYNTHETASE BY FUNCTIONAL COMPLEMENTATION OF A BIOTIN AUXOTROPH OF ESCHERICHIA-COLI
Authors: LEONDELRIO A LECLERC D AKERMAN B WAKAMATSU N GRAVEL RA
Citation: A. Leondelrio et al., ISOLATION OF A CDNA-ENCODING HUMAN HOLOCARBOXYLASE SYNTHETASE BY FUNCTIONAL COMPLEMENTATION OF A BIOTIN AUXOTROPH OF ESCHERICHIA-COLI, Proceedings of the National Academy of Sciences of the United Statesof America, 92(10), 1995, pp. 4626-4630
MOLECULAR-GENETICS OF PROPIONIC ACIDEMIA - A PROPOSAL FOR DEFICIENT BIOTIN CARBOXYLATION OF THE ALPHA-SUBUNIT OF PROPIONYL-COA CARBOXYLASE
Authors: CAMPEAU E LECLERC D DUPUIS L GRAVEL RA
Citation: E. Campeau et al., MOLECULAR-GENETICS OF PROPIONIC ACIDEMIA - A PROPOSAL FOR DEFICIENT BIOTIN CARBOXYLATION OF THE ALPHA-SUBUNIT OF PROPIONYL-COA CARBOXYLASE, American journal of human genetics, 57(4), 1995, pp. 1012-1012
Risultati: 1-25 | 26-35