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Results: 1-25 | 26-50 | 51-71
Results: 1-25/71
STUDIES OF ATYPICAL JNCL SUGGEST OVERLAPPING WITH OTHER NCL FORMS
Authors: WISNIEWSKI KE ZHONG N KACZMARSKI W KACZMARSKI A SKLOWERBROOKS S BROWN WT
Citation: Ke. Wisniewski et al., STUDIES OF ATYPICAL JNCL SUGGEST OVERLAPPING WITH OTHER NCL FORMS, Pediatric neurology, 18(1), 1998, pp. 36-40
COMPOUND HETEROZYGOUS GENOTYPE IS ASSOCIATED WITH PROTRACTED JUVENILENEURONAL CEROID-LIPOFUSCINOSIS
Authors: WISNIEWSKI KE ZHONG N KACZMARSKI W KACZMARSKI A KIDA E BROWN WT SCHWARZ KO LAZZARINI AM RUBIN AJ STENROOS ES JOHNSON WG WISNIEWSKI TM
Citation: Ke. Wisniewski et al., COMPOUND HETEROZYGOUS GENOTYPE IS ASSOCIATED WITH PROTRACTED JUVENILENEURONAL CEROID-LIPOFUSCINOSIS, Annals of neurology, 43(1), 1998, pp. 106-110
MOLECULAR SCREENING OF BATTEN-DISEASE - IDENTIFICATION OF A MISSENSE MUTATION (E295K) IN THE CLN3 GENE
Authors: ZHONG N WISNIEWSKI KE KACZMARSKI AL JU W XU WM XU WW MCLENDON L LIU B KACZMARSKI W BROOKS SS BROWN WT
Citation: N. Zhong et al., MOLECULAR SCREENING OF BATTEN-DISEASE - IDENTIFICATION OF A MISSENSE MUTATION (E295K) IN THE CLN3 GENE, Human genetics, 102(1), 1998, pp. 57-62
IDENTICAL-TWINS DISCORDANT FOR SOTOS-SYNDROME
Authors: BROWN WT WISNIEWSKI KE SUDHALTER V KEOGH M TSIOURIS J MIEZEJESKI C SCHAEFER GB
Citation: Wt. Brown et al., IDENTICAL-TWINS DISCORDANT FOR SOTOS-SYNDROME, American journal of medical genetics, 79(4), 1998, pp. 329-333
2 COMMON MUTATIONS IN THE CLN2 GENE UNDERLIE LATE INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS
Authors: ZHONG N WISNIEWSKI KE HARTIKAINEN J JU W MOROZIEWICZ DN MCLENDON L BROOKS SS BROWN WT
Citation: N. Zhong et al., 2 COMMON MUTATIONS IN THE CLN2 GENE UNDERLIE LATE INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS, Clinical genetics, 54(3), 1998, pp. 234-238
EXAMINATION OF FACTORS ASSOCIATED WITH INSTABILITY OF THE FMR1 CGG REPEAT
Authors: ASHLEYKOCH AE ROBINSON H GLICKSMAN AE NOLIN SL SCHWARTZ CE BROWN WT TURNER G SHERMAN SL
Citation: Ae. Ashleykoch et al., EXAMINATION OF FACTORS ASSOCIATED WITH INSTABILITY OF THE FMR1 CGG REPEAT, American journal of human genetics, 63(3), 1998, pp. 776-785
EPIGENETIC VARIATION ILLUSTRATED BY DNA METHYLATION PATTERNS OF THE FRAGILE-X GENE FMR1
Authors: STOGER R KAJIMURA TM BROWN WT LAIRD CD
Citation: R. Stoger et al., EPIGENETIC VARIATION ILLUSTRATED BY DNA METHYLATION PATTERNS OF THE FRAGILE-X GENE FMR1, Human molecular genetics, 6(11), 1997, pp. 1791-1801
MOLECULAR ANALYSIS OF CLN3 TO CLARIFY AN ATYPICAL, PROTRACTED JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS
Authors: WISNIEWSKI KE ZHONG N KIDA E KACZMARSKI W KACZMARSKI A BROWN WT SCHWARTZ KO STENROOS S LAZZARINI A RUBIN AJ JOHNSON WG
Citation: Ke. Wisniewski et al., MOLECULAR ANALYSIS OF CLN3 TO CLARIFY AN ATYPICAL, PROTRACTED JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS, Annals of neurology, 42(3), 1997, pp. 49-49
PANCREATITIS SECONDARY TO ENDOSCOPIC RETROGRADE CHOLANGIOPANCREATOGRAPHY ON A WHOLE-BODY GA-67 SCAN
Authors: LYONS KP CHALLA S MILNE N BROWN WT
Citation: Kp. Lyons et al., PANCREATITIS SECONDARY TO ENDOSCOPIC RETROGRADE CHOLANGIOPANCREATOGRAPHY ON A WHOLE-BODY GA-67 SCAN, Clinical nuclear medicine, 22(8), 1997, pp. 565-566
POLYMORPHISM OF FXR1 SHOWING LACK OF ASSOCIATION WITH AUTISM
Authors: LIMPRASERT P ZHONG N DOBKIN C BROWN WT
Citation: P. Limprasert et al., POLYMORPHISM OF FXR1 SHOWING LACK OF ASSOCIATION WITH AUTISM, American journal of medical genetics, 74(4), 1997, pp. 453-454
LONGER BRAIN-STEM AUDITORY-EVOKED RESPONSE LATENCIES OF INDIVIDUALS WITH FRAGILE-X-SYNDROME RELATED TO SEDATION
Authors: MIEZEJESKI CM HEANEY G BELSER R BROWN WT JENKINS EC SERSEN EA
Citation: Cm. Miezejeski et al., LONGER BRAIN-STEM AUDITORY-EVOKED RESPONSE LATENCIES OF INDIVIDUALS WITH FRAGILE-X-SYNDROME RELATED TO SEDATION, American journal of medical genetics, 74(2), 1997, pp. 167-171
TRANSMISSION ELECTRON-MICROSCOPY OF CHROMOSOMES BY LONGITUDINAL SECTION PREPARATION - APPLICATION TO FRAGILE-X CHROMOSOME ANALYSIS
Authors: WEN GY JENKINS EC YAO XL YOON D BROWN WT WISNIEWSKI HM
Citation: Gy. Wen et al., TRANSMISSION ELECTRON-MICROSCOPY OF CHROMOSOMES BY LONGITUDINAL SECTION PREPARATION - APPLICATION TO FRAGILE-X CHROMOSOME ANALYSIS, American journal of medical genetics, 68(4), 1997, pp. 445-449
INCREASED LOW-LEVEL CHROMOSOME-21 MOSAICISM IN OLDER INDIVIDUALS WITHDOWN-SYNDROME
Authors: JENKINS EC SCHUPF N GENOVESE M YE LL KAPELL D CANTO B HARRIS M DEVENNY D LEE JH BROWN WT
Citation: Ec. Jenkins et al., INCREASED LOW-LEVEL CHROMOSOME-21 MOSAICISM IN OLDER INDIVIDUALS WITHDOWN-SYNDROME, American journal of medical genetics, 68(2), 1997, pp. 147-151
RESPONSE TO NUTRITIONAL AND GROWTH-HORMONE TREATMENT IN PROGERIA
Authors: ABDENUR JE BROWN WT FRIEDMAN S SMITH M LIFSHITZ F
Citation: Je. Abdenur et al., RESPONSE TO NUTRITIONAL AND GROWTH-HORMONE TREATMENT IN PROGERIA, Metabolism, clinical and experimental, 46(8), 1997, pp. 851-856
MOLECULAR PATHOGENETIC STUDIES OF THE FRAGILE-X-SYNDROME - DOUBLE KNOCKOUTS OF FMR1 AND FXR1 AFFECT EARLY DEVELOPMENT OF XENOPUS OOCYTES
Authors: JU W XU WM HWANG YW BROWN WT ZHONG N
Citation: W. Ju et al., MOLECULAR PATHOGENETIC STUDIES OF THE FRAGILE-X-SYNDROME - DOUBLE KNOCKOUTS OF FMR1 AND FXR1 AFFECT EARLY DEVELOPMENT OF XENOPUS OOCYTES, American journal of human genetics, 61(4), 1997, pp. 171-171
FRAGILE-X CHROMOSOME LONGITUDINAL SECTIONS STUDIED BY TRANSMISSION ELECTRON-MICROSCOPY
Authors: JENKINS EC WEN GY GOLDBERG EM GENOVESE M BROWN WT WISNIEWSKI HM
Citation: Ec. Jenkins et al., FRAGILE-X CHROMOSOME LONGITUDINAL SECTIONS STUDIED BY TRANSMISSION ELECTRON-MICROSCOPY, American journal of human genetics, 61(4), 1997, pp. 727-727
IDENTIFICATION OF RISK-FACTORS ASSOCIATED WITH INSTABILITY OF THE FMR1 CGG REPEAT
Authors: ASHLEY AE ROBINSON H GLICKSMAN AE NOLIN SL SCHWARTZ C BROWN WT TURNER G SHERMAN SL
Citation: Ae. Ashley et al., IDENTIFICATION OF RISK-FACTORS ASSOCIATED WITH INSTABILITY OF THE FMR1 CGG REPEAT, American journal of human genetics, 61(4), 1997, pp. 1771-1771
SINGLE-CELL ANALYSIS SHOWS DIFFERENT FMR1 CGG REPEAT STABILITY IN SPERM AND LYMPHOCYTES OF PREMUTATION MALES
Authors: NOLIN SL HOUCK GE BLUMSTEIN H YE LL DOBKIN CS BROWN WT
Citation: Sl. Nolin et al., SINGLE-CELL ANALYSIS SHOWS DIFFERENT FMR1 CGG REPEAT STABILITY IN SPERM AND LYMPHOCYTES OF PREMUTATION MALES, American journal of human genetics, 61(4), 1997, pp. 1848-1848
MOLECULAR PATHOGENETIC STUDIES OF THE FRAGILE-X-SYNDROME - A CANDIDATE TRANSCRIPT TARGETED BY THE FRAGILE-X PROTEIN FMRP
Authors: ZHONG N JU W XU WM LIU B DOBKIN C BROWN WT
Citation: N. Zhong et al., MOLECULAR PATHOGENETIC STUDIES OF THE FRAGILE-X-SYNDROME - A CANDIDATE TRANSCRIPT TARGETED BY THE FRAGILE-X PROTEIN FMRP, American journal of human genetics, 61(4), 1997, pp. 1898-1898
DISTRIBUTION OF APOLIPOPROTEIN-E GENOTYPES IN THE FRAGILE-X-SYNDROME,BATTEN-DISEASE, AND DOWN-SYNDROME POPULATIONS
Authors: YE LL JU W XU WM SCHUPF N JENKINS EC BROWN WT ZHONG N
Citation: Ll. Ye et al., DISTRIBUTION OF APOLIPOPROTEIN-E GENOTYPES IN THE FRAGILE-X-SYNDROME,BATTEN-DISEASE, AND DOWN-SYNDROME POPULATIONS, American journal of human genetics, 61(4), 1997, pp. 2275-2275
HERNIA OF THE LUNG REPAIRED BY VATS - A CASE-REPORT
Authors: BROWN WT HAUSER M KELLER FA
Citation: Wt. Brown et al., HERNIA OF THE LUNG REPAIRED BY VATS - A CASE-REPORT, Journal of laparoendoscopic surgery, 6(6), 1996, pp. 427-430
MOLECULAR ANALYSIS OF GENE MUTATION IN BATTEN-DISEASE
Authors: ZHONG N WISNIEWSKY KE LACH A SKLOWERBROOKS S BROWN WT
Citation: N. Zhong et al., MOLECULAR ANALYSIS OF GENE MUTATION IN BATTEN-DISEASE, Annals of neurology, 40(2), 1996, pp. 49-49
CLINICOPATHOLOGICAL AND MOLECULAR CHARACTERISTICS OF ATYPICAL CLN3 CASES
Authors: WISNIEWSKI KE KIDA E ZHONG N KACZMARSKI W LACH A CONNELL F BROOKS SS BROWN WT
Citation: Ke. Wisniewski et al., CLINICOPATHOLOGICAL AND MOLECULAR CHARACTERISTICS OF ATYPICAL CLN3 CASES, Annals of neurology, 40(2), 1996, pp. 170-170
FRAGILE-X GRAY ZONE ALLELES - AGG PATTERNS, EXPANSION RISKS, AND ASSOCIATED HAPLOTYPES
Authors: ZHONG N JU WN PIETROFESA J WANG DW DOBKIN C BROWN WT
Citation: N. Zhong et al., FRAGILE-X GRAY ZONE ALLELES - AGG PATTERNS, EXPANSION RISKS, AND ASSOCIATED HAPLOTYPES, American journal of medical genetics, 64(2), 1996, pp. 261-265
REVERSE MUTATIONS IN THE FRAGILE-X SYNDROME
Authors: BROWN WT HOUCK GE DING XH ZHONG N NOLIN S GLICKSMAN A DOBKIN C JENKINS EC
Citation: Wt. Brown et al., REVERSE MUTATIONS IN THE FRAGILE-X SYNDROME, American journal of medical genetics, 64(2), 1996, pp. 287-292
Risultati: 1-25 | 26-50 | 51-71