AAAAAA

   
Results: 1-23 |
Results: 23
APPLIED MOLECULAR-GENETIC TECHNIQUES FOR PRENATAL-DIAGNOSIS
Authors: VANDENVEYVER IB ROA BB
Citation: Ib. Vandenveyver et Bb. Roa, APPLIED MOLECULAR-GENETIC TECHNIQUES FOR PRENATAL-DIAGNOSIS, Current opinion in obstetrics & gynecology, 10(2), 1998, pp. 97-103
DETECTION OF RECURRENT MUTATIONS IN THE BRCA1 AND BRCA2 GENES BY ENZYME-ENHANCED DNA CHIPS
Authors: KURG A TOLLETT JJ SHAH A ROA BB RICHARDS CS NYE SH PIRRUNG M METSPALU A SHUMAKER JM
Citation: A. Kurg et al., DETECTION OF RECURRENT MUTATIONS IN THE BRCA1 AND BRCA2 GENES BY ENZYME-ENHANCED DNA CHIPS, American journal of human genetics, 61(4), 1997, pp. 68-68
IMPROVEMENTS IN FETAL RHD TYPING BY MULTI-EXON ANALYSIS THROUGH MULTIPLEX PCR
Authors: ROA BB GUNARATNE PH VANDENVEYVER IB RICHARDS CS
Citation: Bb. Roa et al., IMPROVEMENTS IN FETAL RHD TYPING BY MULTI-EXON ANALYSIS THROUGH MULTIPLEX PCR, American journal of human genetics, 61(4), 1997, pp. 1312-1312
A CHIP-BASED DNA-SEQUENCE ANALYSIS OF EXONS-5-9 OF THE P53 GENE
Authors: TOLLETT JJ KURG A SHAH A ROA BB RICHARDS CS NYE SH PIRRUNG M METSPALU A SHUMAKER JM
Citation: Jj. Tollett et al., A CHIP-BASED DNA-SEQUENCE ANALYSIS OF EXONS-5-9 OF THE P53 GENE, American journal of human genetics, 61(4), 1997, pp. 1322-1322
SCREENING FOR 185DELAG IN THE ASHKENAZIM
Authors: RICHARDS CS WARD PA ROA BB FRIEDMAN LC BOYD AA KUENZLI G DUNN JK PLON SE
Citation: Cs. Richards et al., SCREENING FOR 185DELAG IN THE ASHKENAZIM, American journal of human genetics, 60(5), 1997, pp. 1085-1098
ASHKENAZI JEWISH POPULATION FREQUENCIES FOR COMMON MUTATIONS IN BRCA1AND BRCA2
Authors: ROA BB BOYD AA VOLCIK K RICHARDS CS
Citation: Bb. Roa et al., ASHKENAZI JEWISH POPULATION FREQUENCIES FOR COMMON MUTATIONS IN BRCA1AND BRCA2, Nature genetics, 14(2), 1996, pp. 185-187
ABSENCE OF PMP22 CODING REGION MUTATIONS IN CMT1A DUPLICATION PATIENTS - FURTHER EVIDENCE SUPPORTING GENE DOSAGE AS A MECHANISM FOR CHARCOT-MARIE-TOOTH DISEASE TYPE 1A
Authors: WARNER LE ROA BB LUPSKI JR
Citation: Le. Warner et al., ABSENCE OF PMP22 CODING REGION MUTATIONS IN CMT1A DUPLICATION PATIENTS - FURTHER EVIDENCE SUPPORTING GENE DOSAGE AS A MECHANISM FOR CHARCOT-MARIE-TOOTH DISEASE TYPE 1A, Human mutation, 8(4), 1996, pp. 362-365
MYELIN PROTEIN ZERO (MPZ) GENE-MUTATIONS IN NONDUPLICATION TYPE-1 CHARCOT-MARIE-TOOTH DISEASE
Authors: ROA BB WARNER LE GARCIA CA RUSSO D LOVELACE R CHANCE PF LUPSKI JR
Citation: Bb. Roa et al., MYELIN PROTEIN ZERO (MPZ) GENE-MUTATIONS IN NONDUPLICATION TYPE-1 CHARCOT-MARIE-TOOTH DISEASE, Human mutation, 7(1), 1996, pp. 36-45
DUPLICATION OF THE PMP22 GENE IN 17P PARTIAL TRISOMY PATIENTS WITH CHARCOT-MARIE-TOOTH TYPE-1A NEUROPATHY
Authors: ROA BB GREENBERG F GUNARATNE P SAUER CM LUBINSKY MS KOZMA C MECK JM MAGENIS RE SHAFFER LG LUPSKI JR
Citation: Bb. Roa et al., DUPLICATION OF THE PMP22 GENE IN 17P PARTIAL TRISOMY PATIENTS WITH CHARCOT-MARIE-TOOTH TYPE-1A NEUROPATHY, Human genetics, 97(5), 1996, pp. 642-649
SETTLING THE MYELIN PROTEIN ZERO QUESTION IN CMT1B
Authors: WARNER LE ROA BB LUPSKI JR
Citation: Le. Warner et al., SETTLING THE MYELIN PROTEIN ZERO QUESTION IN CMT1B, Nature genetics, 11(2), 1995, pp. 119-120
DUPLICATION OF THE PMP22 GENE IN 17P PARTIAL TRISOMY PATIENTS WITH CHARCOT-MARIE-TOOTH TYPE 1A NEUROPATHY
Authors: ROA BB GREENBERG F GUNARATNE P SAUER CM LUBINSKY MS KOZMA C MECK JM MAGENIS RE SHAFFER LG LUPSKI JR
Citation: Bb. Roa et al., DUPLICATION OF THE PMP22 GENE IN 17P PARTIAL TRISOMY PATIENTS WITH CHARCOT-MARIE-TOOTH TYPE 1A NEUROPATHY, American journal of human genetics, 57(4), 1995, pp. 171-171
PMP22 GENE DOSAGE AS A MECHANISM FOR CMT1A
Authors: WARNER LE ROA BB LUPSKI JR
Citation: Le. Warner et al., PMP22 GENE DOSAGE AS A MECHANISM FOR CMT1A, American journal of human genetics, 57(4), 1995, pp. 1471-1471
A 1.5-MB DELETION IN 17P11.2-P12 IS FREQUENTLY OBSERVED IN ITALIAN FAMILIES WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES
Authors: LORENZETTI D PAREYSON D SGHIRLANZONI A ROA BB ABBAS NE PANDOLFO M DIDONATO S LUPSKI JR
Citation: D. Lorenzetti et al., A 1.5-MB DELETION IN 17P11.2-P12 IS FREQUENTLY OBSERVED IN ITALIAN FAMILIES WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES, American journal of human genetics, 56(1), 1995, pp. 91-98
2 AUTOSOMAL-DOMINANT NEUROPATHIES RESULT FROM RECIPROCAL DNA DUPLICATION DELETION OF A REGION ON CHROMOSOME-17/
Authors: CHANCE PF ABBAS N LENSCH MW PENTAO L ROA BB PATEL PI LUPSKI JR
Citation: Pf. Chance et al., 2 AUTOSOMAL-DOMINANT NEUROPATHIES RESULT FROM RECIPROCAL DNA DUPLICATION DELETION OF A REGION ON CHROMOSOME-17/, Human molecular genetics, 3(2), 1994, pp. 223-228
MOLECULAR-GENETICS OF CHARCOT-MARIE-TOOTH DISEASE
Authors: ROA BB ABBAS N WISE CA ANDERSON K PATEL PI LUPSKI JR
Citation: Bb. Roa et al., MOLECULAR-GENETICS OF CHARCOT-MARIE-TOOTH DISEASE, Journal of cellular biochemistry, 1994, pp. 189-189
MOLECULAR-GENETICS OF CHARCOT-MARIE-TOOTH DISEASE
Authors: ROA BB ABBAS N WISE CA ANDERSON K PATEL PI LUPSKI JR
Citation: Bb. Roa et al., MOLECULAR-GENETICS OF CHARCOT-MARIE-TOOTH DISEASE, Journal of cellular biochemistry, 1994, pp. 218-218
THE ROLE OF SCHWANN-CELLS IN DISEASE THE PMP-22 STORY FROM CLONE TO CLINIC
Authors: WELCHER AA SUTER U SNIPES GJ ROA BB PATEL PI LUPSKI JR GARCIA CA SHOOTER EM
Citation: Aa. Welcher et al., THE ROLE OF SCHWANN-CELLS IN DISEASE THE PMP-22 STORY FROM CLONE TO CLINIC, Journal of neurochemistry, 62, 1994, pp. 190000119-190000119
DEJERINE-SOTTAS SYNDROME-ASSOCIATED WITH POINT MUTATION IN THE PERIPHERAL MYELIN PROTEIN 22 (PMP22) GENE
Authors: ROA BB DYCK PJ MARKS HG CHANCE PF LUPSKI JR
Citation: Bb. Roa et al., DEJERINE-SOTTAS SYNDROME-ASSOCIATED WITH POINT MUTATION IN THE PERIPHERAL MYELIN PROTEIN 22 (PMP22) GENE, Nature genetics, 5(3), 1993, pp. 269-273
EVIDENCE FOR A RECESSIVE PMP22 POINT MUTATION IN CHARCOT-MARIE-TOOTH DISEASE TYPE-1A
Authors: ROA BB GARCIA CA LIU PT KILLIAN JM TRASK BJ SUTER U SNIPES GJ ORTIZLOPEZ R SHOOTER EM PATEL PI LUPSKI JR
Citation: Bb. Roa et al., EVIDENCE FOR A RECESSIVE PMP22 POINT MUTATION IN CHARCOT-MARIE-TOOTH DISEASE TYPE-1A, Nature genetics, 5(2), 1993, pp. 189-194
CHARCOT-MARIE-TOOTH DISEASE TYPE-1A - ASSOCIATION WITH A SPONTANEOUS POINT MUTATION IN THE PMP22 GENE
Authors: ROA BB GARCIA CA SUTER U KULPA DA WISE CA MUELLER J WELCHER AA SNIPES GJ SHOOTER EM PATEL PI LUPSKI JR
Citation: Bb. Roa et al., CHARCOT-MARIE-TOOTH DISEASE TYPE-1A - ASSOCIATION WITH A SPONTANEOUS POINT MUTATION IN THE PMP22 GENE, The New England journal of medicine, 329(2), 1993, pp. 96-101
MOLECULAR-BASIS OF CHARCOT-MARIE-TOOTH DISEASE TYPE-1A - GENE DOSAGE AS A NOVEL MECHANISM FOR A COMMON AUTOSOMAL-DOMINANT CONDITION
Authors: ROA BB LUPSKI JR
Citation: Bb. Roa et Jr. Lupski, MOLECULAR-BASIS OF CHARCOT-MARIE-TOOTH DISEASE TYPE-1A - GENE DOSAGE AS A NOVEL MECHANISM FOR A COMMON AUTOSOMAL-DOMINANT CONDITION, The American journal of the medical sciences, 306(3), 1993, pp. 177-184
DEJERINE-SOTTAS SYNDROME-ASSOCIATED WITH POINT MUTATION IN THE PMP22 GENE
Authors: ROA BB DYCK PJ MARKS H CHANCE P LUPSKI JR
Citation: Bb. Roa et al., DEJERINE-SOTTAS SYNDROME-ASSOCIATED WITH POINT MUTATION IN THE PMP22 GENE, American journal of human genetics, 53(3), 1993, pp. 18-18
EVIDENCE FOR A RECESSIVE POINT MUTATION IN CHARCOT-MARIE-TOOTH DISEASE TYPE-1A
Authors: GARCIA CA ROA BB PENTAO L KILLIAN JM TRASK BJ SUTER U SNIPES GJ SHOOTER E PATEL PI LUPSKI JR
Citation: Ca. Garcia et al., EVIDENCE FOR A RECESSIVE POINT MUTATION IN CHARCOT-MARIE-TOOTH DISEASE TYPE-1A, American journal of human genetics, 53(3), 1993, pp. 1162-1162
Risultati: 1-23 |