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Results: 1-25/48
Authors:
NAKAMURA Y
KOYAMA K
MATSUSHIMA M
Citation: Y. Nakamura et al., VNTR (VARIABLE NUMBER OF TANDEM REPEAT) SEQUENCES AS TRANSCRIPTIONAL,TRANSLATIONAL, OR FUNCTIONAL REGULATORS, JOURNAL OF HUMAN GENETICS, 43(3), 1998, pp. 149-152
Authors:
BORIGHT AP
CONNELLY PW
BRUNT JH
MORGAN K
HEGELE RA
Citation: Ap. Boright et al., ASSOCIATION AND LINKAGE OF LDLR GENE VARIATION WITH VARIATION IN PLASMA LOW-DENSITY-LIPOPROTEIN CHOLESTEROL, JOURNAL OF HUMAN GENETICS, 43(3), 1998, pp. 153-159
Authors:
SUGIMOTO N
IWAMOTO S
HOSHINO Y
KAJII E
Citation: N. Sugimoto et al., A NOVEL MISSENSE MUTATION OF THE TISSUE-NONSPECIFIC ALKALINE-PHOSPHATASE GENE DETECTED IN A PATIENT WITH HYPOPHOSPHATASIA, JOURNAL OF HUMAN GENETICS, 43(3), 1998, pp. 160-164
Authors:
YAMANETANAKA Y
KOGAWA K
TANAKA T
NAKAMURA Y
ISOMURA M
Citation: Y. Yamanetanaka et al., HETEROZYGOSITIES AND ALLELIC FREQUENCIES OF 358 DINUCLEOTIDE-REPEAT MARKER LOCI IN THE JAPANESE POPULATION, JOURNAL OF HUMAN GENETICS, 43(3), 1998, pp. 165-168
Authors:
OMORI Y
SUZUKI M
OZAKI K
HARADA Y
NAKAMURA Y
TAKAHASHI E
FUJIWARA T
Citation: Y. Omori et al., EXPRESSION AND CHROMOSOMAL LOCALIZATION OF KIAA0369, A PUTATIVE KINASE STRUCTURALLY RELATED TO DOUBLECORTIN, JOURNAL OF HUMAN GENETICS, 43(3), 1998, pp. 169-177
Authors:
MIZUGISHI K
YAMANAKA K
KUWAJIMA K
KONDO I
Citation: K. Mizugishi et al., INTERSTITIAL DELETION OF CHROMOSOME 7Q IN A PATIENT WITH WILLIAMS-SYNDROME AND INFANTILE SPASMS, JOURNAL OF HUMAN GENETICS, 43(3), 1998, pp. 178-181
Authors:
SUSA S
DAIMON M
YAMAMORI I
KONDO M
YAMATANI K
SASAKI H
KATO T
Citation: S. Susa et al., A NOVEL MUTATION OF COPROPORPHYRINOGEN OXIDASE (CPO) GENE IN A JAPANESE FAMILY, JOURNAL OF HUMAN GENETICS, 43(3), 1998, pp. 182-184
Authors:
SAMONTE RV
CONTE RA
VERMA RS
Citation: Rv. Samonte et al., MOLECULAR PHYLOGENETICS OF THE HOMINOID Y-CHROMOSOME, JOURNAL OF HUMAN GENETICS, 43(3), 1998, pp. 185-186
Authors:
ARIYAMA Y
SAKABE T
SHINOMIYA T
MORI T
FUKUDA Y
INAZAWA J
Citation: Y. Ariyama et al., IDENTIFICATION OF AMPLIFIED DNA-SEQUENCES ON DOUBLE MINUTE CHROMOSOMES IN A LEUKEMIC-CELL LINE KY821 BY MEANS OF SPECTRAL KARYOTYPING AND COMPARATIVE GENOMIC HYBRIDIZATION, JOURNAL OF HUMAN GENETICS, 43(3), 1998, pp. 187-190
Authors:
NISHIMURA G
HASEGAWA T
SUGII K
TSUYAMA K
MATSUO N
Citation: G. Nishimura et al., JOINT LAXITY, VITREORETINAL DEGENERATION, FACIAL ABNORMALITIES, AND GENERALIZED SKELETAL ALTERATIONS - A NEW SYNDROME, JOURNAL OF HUMAN GENETICS, 43(3), 1998, pp. 191-194
Authors:
KIM W
SHIN DJ
YOU SA
KIM YJ
Citation: W. Kim et al., Y-SPECIFIC DNA POLYMORPHISMS OF THE YAP ELEMENT AND THE LOCUS DYS19 IN THE KOREAN POPULATION, JOURNAL OF HUMAN GENETICS, 43(3), 1998, pp. 195-198
Authors:
SAKURAI A
SHIRAHAMA S
FUJIMORI M
KATAI M
ITAKURA Y
KOBAYASHI S
AMANO J
FUKUSHIMA Y
HASHIZUME K
Citation: A. Sakurai et al., NOVEL MEN1 GENE-MUTATIONS IN FAMILIAL MULTIPLE ENDOCRINE NEOPLASIA TYPE-1, JOURNAL OF HUMAN GENETICS, 43(3), 1998, pp. 199-201
Authors:
SEKI N
SUGANO S
SUZUKI Y
NAKAGAWARA A
OHIRA M
MURAMATSU M
SAITO T
HORI T
Citation: N. Seki et al., ISOLATION, TISSUE EXPRESSION, AND CHROMOSOMAL ASSIGNMENT OF HUMAN RGS5, A NOVEL G-PROTEIN SIGNALING REGULATOR GENE, JOURNAL OF HUMAN GENETICS, 43(3), 1998, pp. 202-205
Authors:
NAGAO M
KADOWAKI J
Citation: M. Nagao et J. Kadowaki, CONNATAL PELIZAEUS-MERZBACHER-DISEASE - A MISSENSE MUTATION IN EXON-4OF THE PROTEOLIPID PROTEIN (PLP) GENE, JOURNAL OF HUMAN GENETICS, 43(3), 1998, pp. 206-208
Authors:
SAITO T
SEKI N
OHIRA M
HAYASHI A
KOZUMA S
HATTORI A
HORI T
Citation: T. Saito et al., ASSIGNMENT OF THE ZIP KINASE GENE TO HUMAN-CHROMOSOME 19P13.3 BY SOMATIC HYBRID ANALYSIS AND FLUORESCENCE IN-SITU HYBRIDIZATION, JOURNAL OF HUMAN GENETICS, 43(3), 1998, pp. 209-211
Authors:
HAN HJ
NAKAMURA Y
Citation: Hj. Han et Y. Nakamura, DINUCLEOTIDE REPEAT POLYMORPHISM IN THE FIRST INTRON OF THE CSR GENE, JOURNAL OF HUMAN GENETICS, 43(3), 1998, pp. 212-213
Authors:
TSUJIKAWA M
SHIMOMURA Y
OKADA M
YAMAMOTO S
TANO Y
KURAHASHI N
Citation: M. Tsujikawa et al., NOVEL POLYMORPHISMS IN THE BETA-IG-H3 GENE, JOURNAL OF HUMAN GENETICS, 43(3), 1998, pp. 214-215
Authors:
MIKI Y
Citation: Y. Miki, RETROTRANSPOSAL INTEGRATION OF MOBILE GENETIC ELEMENTS IN HUMAN-DISEASES, JOURNAL OF HUMAN GENETICS, 43(2), 1998, pp. 77-84
Authors:
YAEGASHI N
SENOO M
UEHARA S
SUZUKI H
MAEDA T
FUJIMORI K
HIRAHARA F
YAJIMA A
Citation: N. Yaegashi et al., AGE-SPECIFIC INCIDENCES OF CHROMOSOME-ABNORMALITIES AT THE 2ND-TRIMESTER AMNIOCENTESIS FOR JAPANESE MOTHERS AGED 35 AND OLDER - COLLABORATIVE STUDY OF 5484 CASES, JOURNAL OF HUMAN GENETICS, 43(2), 1998, pp. 85-90
Authors:
TSURUTA M
MITSUBUCHI H
MARDY S
MIURA Y
HAYASHIDA Y
KINUGASA A
ISHITSU T
MATSUDA I
INDO Y
Citation: M. Tsuruta et al., MOLECULAR-BASIS OF INTERMITTENT MAPLE-SYRUP-URINE-DISEASE - NOVEL MUTATIONS IN THE E2 GENE OF THE BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE COMPLEX, JOURNAL OF HUMAN GENETICS, 43(2), 1998, pp. 91-100
Authors:
SHIRAHAMA S
OGURA K
TAKAMI H
ITO K
TOHSEN T
MIYAUCHI A
NAKAMURA Y
Citation: S. Shirahama et al., MUTATIONAL ANALYSIS OF THE RET PROTOONCOGENE IN 71 JAPANESE PATIENTS WITH MEDULLARY-THYROID CARCINOMA, JOURNAL OF HUMAN GENETICS, 43(2), 1998, pp. 101-106
Authors:
NISHIGORI H
YAMADA S
KOHAMA T
UTSUGI T
SHIMIZU H
TAKEUCHI T
TAKEDA J
Citation: H. Nishigori et al., MUTATIONS IN THE HEPATOCYTE NUCLEAR FACTOR-1-ALPHA GENE (MODY3) ARE NOT A MAJOR CAUSE OF EARLY-ONSET NON-INSULIN-DEPENDENT (TYPE-2) DIABETES-MELLITUS IN JAPANESE, JOURNAL OF HUMAN GENETICS, 43(2), 1998, pp. 107-110
Authors:
YAMAMOTO K
SOEDA Y
KAMISAKO T
HOSAKA H
FUKANO M
SATO H
FUJIYAMA Y
ADACHI Y
SATOH Y
BAMBA T
Citation: K. Yamamoto et al., ANALYSIS OF BILIRUBIN URIDINE 5'-DIPHOSPHATE IN (UDP)-GLUCURONOSYLTRANSFERASE GENE-MUTATIONS IN 7 PATIENTS WITH CRIGLER-NAJJAR-SYNDROME TYPE-II, JOURNAL OF HUMAN GENETICS, 43(2), 1998, pp. 111-114
Authors:
SHIMADA Y
OKUNO S
KAWAI A
SHINOMIYA H
SAITO A
SUZUKI M
OMORI Y
NISHINO N
KANEMOTO N
FUJIWARA T
HORIE M
TAKAHASHI E
Citation: Y. Shimada et al., CLONING AND CHROMOSOMAL MAPPING OF A NOVEL ABC TRANSPORTER GENE (HABC7), A CANDIDATE FOR X-LINKED SIDEROBLASTIC ANEMIA WITH SPINOCEREBELLARATAXIA, JOURNAL OF HUMAN GENETICS, 43(2), 1998, pp. 115-122
Authors:
MORI K
IWAO K
MIYOSHI Y
NAKAGAWARA A
KOFU K
AKIYAMA T
ARITA N
HAYAKAWA T
NAKAMURA Y
Citation: K. Mori et al., IDENTIFICATION OF BRAIN-SPECIFIC SPLICING VARIANTS OF THE HDLG1 GENE AND ALTERED SPLICING IN NEUROBLASTOMA CELL-LINES, JOURNAL OF HUMAN GENETICS, 43(2), 1998, pp. 123-127