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Results: 1-25 | 26-50 | 51-60
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EVIDENCE THAT A GENE FOR ESSENTIAL TREMOR MAPS TO CHROMOSOME 2P IN 4 FAMILIES
Authors: HIGGINS JJ LOVELESS JM JANKOVIC J PATEL PI
Citation: Jj. Higgins et al., EVIDENCE THAT A GENE FOR ESSENTIAL TREMOR MAPS TO CHROMOSOME 2P IN 4 FAMILIES, Movement disorders, 13(6), 1998, pp. 972-977
CLONING OF A HUMAN EPIDERMAL-TYPE 12-LIPOXYGENASE-RELATED GENE AND CHROMOSOMAL LOCALIZATION TO 17P13
Authors: SUN D ELSEA SH PATEL PI FUNK CD
Citation: D. Sun et al., CLONING OF A HUMAN EPIDERMAL-TYPE 12-LIPOXYGENASE-RELATED GENE AND CHROMOSOMAL LOCALIZATION TO 17P13, Cytogenetics and cell genetics, 81(1), 1998, pp. 79-82
SMITH-MAGENIS-SYNDROME RESULTING FROM A DE-NOVO DIRECT INSERTION OF PROXIMAL 17Q INTO 17P11.2
Authors: PARK JP MOESCHLER JB DAVIES WS PATEL PI MOHANDAS TK
Citation: Jp. Park et al., SMITH-MAGENIS-SYNDROME RESULTING FROM A DE-NOVO DIRECT INSERTION OF PROXIMAL 17Q INTO 17P11.2, American journal of medical genetics, 77(1), 1998, pp. 23-27
GENE FOR TOPOISOMERASE-III MAPS WITHIN THE SMITH-MAGENIS-SYNDROME CRITICAL REGION - ANALYSIS OF CELL-CYCLE DISTRIBUTION AND RADIATION SENSITIVITY
Authors: ELSEA SH FRITZ E SCHOENERSCOTT R MEYN MS PATEL PI
Citation: Sh. Elsea et al., GENE FOR TOPOISOMERASE-III MAPS WITHIN THE SMITH-MAGENIS-SYNDROME CRITICAL REGION - ANALYSIS OF CELL-CYCLE DISTRIBUTION AND RADIATION SENSITIVITY, American journal of medical genetics, 75(1), 1998, pp. 104-108
A MILD CASE OF FRIEDREICH ATAXIA - LYMPHOCYTE AND SURAL NERVE ANALYSIS FOR GAA REPEAT LENGTH REVEALS SOMATIC MOSAICISM
Authors: MACHKHAS H BIDICHANDANI SI PATEL PI HARATI Y
Citation: H. Machkhas et al., A MILD CASE OF FRIEDREICH ATAXIA - LYMPHOCYTE AND SURAL NERVE ANALYSIS FOR GAA REPEAT LENGTH REVEALS SOMATIC MOSAICISM, Muscle & nerve, 21(3), 1998, pp. 390-393
UNUSUAL EEG PATTERN LINKED TO CHROMOSOME 3P IN A FAMILY WITH IDIOPATHIC GENERALIZED EPILEPSY
Authors: ZARA F LABUDA M GAROFALO PGA DURISOTTI C BIANCHI A CASTELLOTTI B PATEL PI AVANZINI G PANDOLFO M
Citation: F. Zara et al., UNUSUAL EEG PATTERN LINKED TO CHROMOSOME 3P IN A FAMILY WITH IDIOPATHIC GENERALIZED EPILEPSY, Neurology, 51(2), 1998, pp. 493-498
MUTATION ANALYSIS OF THE NERVE SPECIFIC PROMOTER OF THE PERIPHERAL MYELIN PROTEIN-22 GENE IN CMT1 DISEASE AND HNPP
Authors: NELIS E DEJONGHE P DEVRIENDT E PATEL PI MARTIN JJ VANBROECKHOVEN C
Citation: E. Nelis et al., MUTATION ANALYSIS OF THE NERVE SPECIFIC PROMOTER OF THE PERIPHERAL MYELIN PROTEIN-22 GENE IN CMT1 DISEASE AND HNPP, Journal of Medical Genetics, 35(7), 1998, pp. 590-593
ALTERNATIVE INTERPRETATION OF REPORTED PARACENTRIC INVERSION - REPLY TO GALLEN
Authors: RIDICHANDANI SI BALDINI A PATEL PI
Citation: Si. Ridichandani et al., ALTERNATIVE INTERPRETATION OF REPORTED PARACENTRIC INVERSION - REPLY TO GALLEN, American journal of human genetics, 63(1), 1998, pp. 270-270
THE GAA TRIPLET-REPEAT EXPANSION IN FRIEDREICH ATAXIA INTERFERES WITHTRANSCRIPTION AND MAY BE ASSOCIATED WITH AN UNUSUAL DNA-STRUCTURE
Authors: BIDICHANDANI SI ASHIZAWA T PATEL PI
Citation: Si. Bidichandani et al., THE GAA TRIPLET-REPEAT EXPANSION IN FRIEDREICH ATAXIA INTERFERES WITHTRANSCRIPTION AND MAY BE ASSOCIATED WITH AN UNUSUAL DNA-STRUCTURE, American journal of human genetics, 62(1), 1998, pp. 111-121
FRATAXIN FRACAS
Authors: COSSEE M CAMPUZANO V KOUTNIKOVA H FISCHBECK K MANDEL JL KOENIG M BIDICHANDANI SI PATEL PI MOLTE MD CANIZARES J DEFRUTOS R PIANESE L CAVALCANTI F MONTICELLI A COCOZZA S MONTERMINI L PANDOLFO M
Citation: M. Cossee et al., FRATAXIN FRACAS, Nature genetics, 15(4), 1997, pp. 337-338
RECOMBINATION HOT-SPOTS AND HUMAN-DISEASE
Authors: PURANDARE SM PATEL PI
Citation: Sm. Purandare et Pi. Patel, RECOMBINATION HOT-SPOTS AND HUMAN-DISEASE, PCR methods and applications, 7(8), 1997, pp. 773-786
DEFINITION OF THE CRITICAL INTERVAL FOR SMITH-MAGENIS-SYNDROME
Authors: ELSEA SH PURANDARE SM ADELL RA JUYAL RC DAVIS JG FINUCANE B MAGENIS RE PATEL PI
Citation: Sh. Elsea et al., DEFINITION OF THE CRITICAL INTERVAL FOR SMITH-MAGENIS-SYNDROME, Cytogenetics and cell genetics, 79(3-4), 1997, pp. 276-281
OVEREXPRESSION OF A TRUNCATED HUMAN TOPOISOMERASE-III PARTIALLY CORRECTS MULTIPLE ASPECTS OF THE ATAXIA-TELANGIECTASIA PHENOTYPE
Authors: FRITZ E ELSEA SH PATEL PI MEYN MS
Citation: E. Fritz et al., OVEREXPRESSION OF A TRUNCATED HUMAN TOPOISOMERASE-III PARTIALLY CORRECTS MULTIPLE ASPECTS OF THE ATAXIA-TELANGIECTASIA PHENOTYPE, Proceedings of the National Academy of Sciences of the United Statesof America, 94(9), 1997, pp. 4538-4542
FAMILIAL ESSENTIAL TREMOR IN 4 KINDREDS - PROSPECTS FOR GENETIC-MAPPING
Authors: JANKOVIC J BEACH J PANDOLFO M PATEL PI
Citation: J. Jankovic et al., FAMILIAL ESSENTIAL TREMOR IN 4 KINDREDS - PROSPECTS FOR GENETIC-MAPPING, Archives of neurology, 54(3), 1997, pp. 289-294
THE GAA TRIPLET REPEAT EXPANSION IN FRIEDREICH ATAXIA INTERFERES WITHTRANSCRIPTION AND MAY BE ASSOCIATED WITH AN UNUSUAL DNA-STRUCTURE
Authors: BIDICHANDANI SI ASHIZAWA T PANDOLFO M PATEL PI
Citation: Si. Bidichandani et al., THE GAA TRIPLET REPEAT EXPANSION IN FRIEDREICH ATAXIA INTERFERES WITHTRANSCRIPTION AND MAY BE ASSOCIATED WITH AN UNUSUAL DNA-STRUCTURE, American journal of human genetics, 61(4), 1997, pp. 130-130
GENETIC DISSECTION OF SMITH-MAGENIS-SYNDROME - HAPLOINSUFFICIENCY OF TOPOISOMERASE-III AND 19 NEW MARKERS AND ESTS WITHIN 17P11.2
Authors: ELSEA SH FRITZ E SCHOENERSCOTT R ADELL RA MEYN MS PATEL PI
Citation: Sh. Elsea et al., GENETIC DISSECTION OF SMITH-MAGENIS-SYNDROME - HAPLOINSUFFICIENCY OF TOPOISOMERASE-III AND 19 NEW MARKERS AND ESTS WITHIN 17P11.2, American journal of human genetics, 61(4), 1997, pp. 702-702
BIG MAP KINASE (BMK1) OR ERK5 MAPS WITHIN THE SMITH-MAGENIS-SYNDROME CRITICAL DELETION INTERVAL
Authors: PURANDARE SM SCHOENERSCOTT R LEE JD PATEL PI
Citation: Sm. Purandare et al., BIG MAP KINASE (BMK1) OR ERK5 MAPS WITHIN THE SMITH-MAGENIS-SYNDROME CRITICAL DELETION INTERVAL, American journal of human genetics, 61(4), 1997, pp. 785-785
MOLECULAR ANALYSIS OF DELETION (17)(P11.2P11.2) IN A FAMILY SEGREGATING A 17P PARACENTRIC INVERSION - IMPLICATIONS FOR CARRIERS OF PARACENTRIC INVERSIONS
Authors: YANG SP BIDICHANDANI SI FIGUERA LE JUYAL RC SAXON PJ BALDINI A PATEL PI
Citation: Sp. Yang et al., MOLECULAR ANALYSIS OF DELETION (17)(P11.2P11.2) IN A FAMILY SEGREGATING A 17P PARACENTRIC INVERSION - IMPLICATIONS FOR CARRIERS OF PARACENTRIC INVERSIONS, American journal of human genetics, 60(5), 1997, pp. 1184-1193
ATYPICAL FRIEDREICH ATAXIA CAUSED BY COMPOUND HETEROZYGOSITY FOR A NOVEL MISSENSE MUTATION AND THE GAA TRIPLET-REPEAT EXPANSION
Authors: BIDICHANDANI SI ASHIZAWA T PATEL PI
Citation: Si. Bidichandani et al., ATYPICAL FRIEDREICH ATAXIA CAUSED BY COMPOUND HETEROZYGOSITY FOR A NOVEL MISSENSE MUTATION AND THE GAA TRIPLET-REPEAT EXPANSION, American journal of human genetics, 60(5), 1997, pp. 1251-1256
QUANTIFICATION BY FLOW-CYTOMETRY OF CHROMOSOME-17 DELETIONS IN SMITH-MAGENIS SYNDROME PATIENTS
Authors: TRASK BJ MEFFORD H VANDENENGH G MASSA HF JUYAL RC POTOCKI L FINUCANE B ABUELO DN WITT DR MAGENIS E BALDINI A GREENBERG F LUPSKI JR PATEL PI
Citation: Bj. Trask et al., QUANTIFICATION BY FLOW-CYTOMETRY OF CHROMOSOME-17 DELETIONS IN SMITH-MAGENIS SYNDROME PATIENTS, Human genetics, 98(6), 1996, pp. 710-718
ASSOCIATION STUDY OF SCHIZOPHRENIA AND THE DOPAMINE D3 RECEPTOR GENE LOCUS IN 2 INDEPENDENT SAMPLES
Authors: NIMGAONKAR VL SANDERS AR GANGULI R ZHANG XR BRAR J HOGGE W FANN WE PATEL PI CHAKRAVARTI A
Citation: Vl. Nimgaonkar et al., ASSOCIATION STUDY OF SCHIZOPHRENIA AND THE DOPAMINE D3 RECEPTOR GENE LOCUS IN 2 INDEPENDENT SAMPLES, American journal of medical genetics, 67(6), 1996, pp. 505-514
MOSAICISM FOR DEL(17)(P11.2P11.2) UNDERLYING THE SMITH-MAGENIS SYNDROME
Authors: JUYAL RC KUWANO A KONDO I ZARA F BALDINI A PATEL PI
Citation: Rc. Juyal et al., MOSAICISM FOR DEL(17)(P11.2P11.2) UNDERLYING THE SMITH-MAGENIS SYNDROME, American journal of medical genetics, 66(2), 1996, pp. 193-196
REGULATION OF THE HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE GENE - IN-VITRO AND IN-VIVO APPROACHES
Authors: JIRALERSPONG S PATEL PI
Citation: S. Jiralerspong et Pi. Patel, REGULATION OF THE HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE GENE - IN-VITRO AND IN-VIVO APPROACHES, Proceedings of the Society for Experimental Biology and Medicine, 212(2), 1996, pp. 116-127
FRIEDREICHS-ATAXIA - AUTOSOMAL RECESSIVE DISEASE CAUSED BY AN INTRONIC GAA TRIPLET REPEAT EXPANSION
Authors: CAMPUZANO V MONTERMINI L MOLTO MD PIANESE L COSSEE M CAVALCANTI F MONROS E RODIUS F DUCLOS F MONTICELLI A ZARA F CANIZARES J KOUTNIKOVA H BIDICHANDANI SI GELLERA C BRICE A TROUILLAS P DEMICHELE G FILLA A DEFRUTOS R PALAU F PATEL PI DIDONATO S MANDEL JL COCOZZA S KOENIG M PANDOLFO M
Citation: V. Campuzano et al., FRIEDREICHS-ATAXIA - AUTOSOMAL RECESSIVE DISEASE CAUSED BY AN INTRONIC GAA TRIPLET REPEAT EXPANSION, Science, 271(5254), 1996, pp. 1423-1427
FRIEDREICH ATAXIA - AUTOSOMAL RECESSIVE DISEASE CAUSED BY AN INTRONICGAA TRIPLET REPEAT EXPANSION
Authors: MONTERMINI L ZARA F BIDICHANDANI S PATEL PI PANDOLFO M CAMPUZANO V COSSEE M RODIUS F DUCLOS F KOUTNIKOVA H MANDEL JL KOENIG M PIANESE FL MONTICELLI A CAVALCANTI F COCOZZA S DEMICHELE G FILLA A BRICE A TROUILLAS P MONROS E PALAU F CANIZARES J DEFRUTOS R GELLERA C DIDONATO S
Citation: L. Montermini et al., FRIEDREICH ATAXIA - AUTOSOMAL RECESSIVE DISEASE CAUSED BY AN INTRONICGAA TRIPLET REPEAT EXPANSION, Neurology, 47(1), 1996, pp. 294-294
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