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Results: 1-25 | 26-48 |

Table of contents of journal: *Journal of human genetics (Print)

Results: 26-48/48
MUTATION AND POLYMORPHIC MARKER ANALYSES OF 65K-GLUTAMATE AND 67K-GLUTAMATE DECARBOXYLASE GENES IN 2 FAMILIES WITH PYRIDOXINE-DEPENDENT EPILEPSY
Authors: KURE S SAKATA Y MIYABAYASHI S TAKAHASHI K SHINKA T MATSUBARA Y HOSHINO H NARISAWA K
Citation: S. Kure et al., MUTATION AND POLYMORPHIC MARKER ANALYSES OF 65K-GLUTAMATE AND 67K-GLUTAMATE DECARBOXYLASE GENES IN 2 FAMILIES WITH PYRIDOXINE-DEPENDENT EPILEPSY, JOURNAL OF HUMAN GENETICS, 43(2), 1998, pp. 128-131
GENOMIC ORGANIZATION AND MAPPING OF THE HUMAN ACTIVIN RECEPTOR-TYPE IIB (HACTR-IIB) GENE
Authors: ISHIKAWA S KAI M MURATA Y TAMARI M DAIGO Y MURANO T OGAWA M NAKAMURA Y
Citation: S. Ishikawa et al., GENOMIC ORGANIZATION AND MAPPING OF THE HUMAN ACTIVIN RECEPTOR-TYPE IIB (HACTR-IIB) GENE, JOURNAL OF HUMAN GENETICS, 43(2), 1998, pp. 132-134
A ONE-BASE DELETION (183DELC) AND A MISSENSE MUTATION (D276H) IN THE T-PROTEIN GENE FROM A JAPANESE FAMILY WITH NONKETOTIC HYPERGLYCINEMIA
Authors: KURE S SHINKA T SAKATA Y OSAMU N TAKAYANAGI M TADA K MATSUBARA Y NARISAWA K
Citation: S. Kure et al., A ONE-BASE DELETION (183DELC) AND A MISSENSE MUTATION (D276H) IN THE T-PROTEIN GENE FROM A JAPANESE FAMILY WITH NONKETOTIC HYPERGLYCINEMIA, JOURNAL OF HUMAN GENETICS, 43(2), 1998, pp. 135-137
MATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME-14 IN A BOY WITH INTRAUTERINE GROWTH-RETARDATION
Authors: MIYOSHI O HAYASHI S FUJIMOTO M TOMITA H SOHDA M NIIKAWA N
Citation: O. Miyoshi et al., MATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME-14 IN A BOY WITH INTRAUTERINE GROWTH-RETARDATION, JOURNAL OF HUMAN GENETICS, 43(2), 1998, pp. 138-142
NOVEL GERMLINE MUTATIONS OF HMSH2 IN A PATIENT WITH HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER (HNPCC) AND IN A PATIENT WITH 6 PRIMARY CANCERS
Authors: OKAMURA S KOYAMA K MIYOSHI Y MONDEN M TAKAMI M
Citation: S. Okamura et al., NOVEL GERMLINE MUTATIONS OF HMSH2 IN A PATIENT WITH HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER (HNPCC) AND IN A PATIENT WITH 6 PRIMARY CANCERS, JOURNAL OF HUMAN GENETICS, 43(2), 1998, pp. 143-145
A POLYMORPHIC CA REPEAT SEQUENCE AT THE HUMAN CALCITONIN LOCUS
Authors: TSUKAMOTO K EMI M
Citation: K. Tsukamoto et M. Emi, A POLYMORPHIC CA REPEAT SEQUENCE AT THE HUMAN CALCITONIN LOCUS, JOURNAL OF HUMAN GENETICS, 43(2), 1998, pp. 146-147
MESSAGE FROM THE EDITOR
Authors: NAKAMURA Y
Citation: Y. Nakamura, MESSAGE FROM THE EDITOR, JOURNAL OF HUMAN GENETICS, 43(1), 1998, pp. 1-1
HUMAN AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, A DEFECT IN THE APOPTOSIS-INDUCING FAS RECEPTOR - A LESSON FROM THE MOUSE MODEL
Authors: NAGATA S
Citation: S. Nagata, HUMAN AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, A DEFECT IN THE APOPTOSIS-INDUCING FAS RECEPTOR - A LESSON FROM THE MOUSE MODEL, JOURNAL OF HUMAN GENETICS, 43(1), 1998, pp. 2-8
IDENTIFICATION BY DIFFERENTIAL DISPLAY OF 8 KNOWN GENES INDUCED DURING IN-VIVO INTIMAL HYPERPLASIA
Authors: ITOH M TSUKADA S ORITA T NISHIU J TOMOIKE H NAKAMURA Y TANAKA T
Citation: M. Itoh et al., IDENTIFICATION BY DIFFERENTIAL DISPLAY OF 8 KNOWN GENES INDUCED DURING IN-VIVO INTIMAL HYPERPLASIA, JOURNAL OF HUMAN GENETICS, 43(1), 1998, pp. 9-13
AN HLA-BINDING MOTIF-AIDED PEPTIDE EPITOPE LIBRARY - A NOVEL LIBRARY DESIGN FOR THE SCREENING OF HLA-DR4-RESTRICTED ANTIGENIC PEPTIDES RECOGNIZED BY CD4(+)T CELLS
Authors: TANA T KAMIKAWAJI N SAVOIE CJ SUDO T KINOSHITA Y SASAZUKI T
Citation: T. Tana et al., AN HLA-BINDING MOTIF-AIDED PEPTIDE EPITOPE LIBRARY - A NOVEL LIBRARY DESIGN FOR THE SCREENING OF HLA-DR4-RESTRICTED ANTIGENIC PEPTIDES RECOGNIZED BY CD4(+)T CELLS, JOURNAL OF HUMAN GENETICS, 43(1), 1998, pp. 14-21
REFINEMENT OF THE GENE LOCUS FOR AUTOSOMAL RECESSIVE JUVENILE PARKINSONISM (AR-JP) ON CHROMOSOME 6Q25.2-27 AND IDENTIFICATION OF MARKERS EXHIBITING LINKAGE DISEQUILIBRIUM
Authors: SAITO M MATSUMINE H TANAKA H ISHIKAWA A SHIMODAMATSUBAYASHI S SCHAFFER AA MIZUNO Y TSUJI S
Citation: M. Saito et al., REFINEMENT OF THE GENE LOCUS FOR AUTOSOMAL RECESSIVE JUVENILE PARKINSONISM (AR-JP) ON CHROMOSOME 6Q25.2-27 AND IDENTIFICATION OF MARKERS EXHIBITING LINKAGE DISEQUILIBRIUM, JOURNAL OF HUMAN GENETICS, 43(1), 1998, pp. 22-31
THE GENE FOR MESOMELIC DYSPLASIA KANTAPUTRA TYPE IS MAPPED TO CHROMOSOME 2Q24-Q32
Authors: FUJIMOTO M KANTAPUTRA PN IKEGAWA S FUKUSHIMA Y SONTA S MATSUO M ISHIDA T MATSUMOTO T KONDO S TOMITA H DENG HX DURSO M RINALDI MM VENTRUTO V TAKAGI T NAKAMURA Y NIIKAWA N
Citation: M. Fujimoto et al., THE GENE FOR MESOMELIC DYSPLASIA KANTAPUTRA TYPE IS MAPPED TO CHROMOSOME 2Q24-Q32, JOURNAL OF HUMAN GENETICS, 43(1), 1998, pp. 32-36
-6A PROMOTER VARIANT OF ANGIOTENSINOGEN AND BLOOD-PRESSURE VARIATION IN CANADIAN OJI-CREE
Authors: HEGELE RA HARRIS SB HANLEY AJG SUN F CONNELLY PW ZINMAN B
Citation: Ra. Hegele et al., -6A PROMOTER VARIANT OF ANGIOTENSINOGEN AND BLOOD-PRESSURE VARIATION IN CANADIAN OJI-CREE, JOURNAL OF HUMAN GENETICS, 43(1), 1998, pp. 37-41
HIGH PROPORTION OF MISSENSE MUTATIONS OF THE BRCA1 AND BRCA2 GENES INJAPANESE BREAST-CANCER FAMILIES
Authors: KATAGIRI T KASUMI F YOSHIMOTO M NOMIZU T ASAISHI K ABE R TSUCHIYA A SUGANO M TAKAI S YONEDA M FUKUTOMI T NANBA K MAKITA M OKAZAKI H HIRATA K OKAZAKI M FURUTSUMA Y MORISHITA Y IINO Y KARINO T AYABE H HARA S KAJIWARA T HOUGA S SHIMIZU T TODA M YAMAZAKI Y UCHIDA T KUNITOMO K SONOO H KUREBAYASHI J SHIMOTSUMA K NAKAMURA Y MIKI Y
Citation: T. Katagiri et al., HIGH PROPORTION OF MISSENSE MUTATIONS OF THE BRCA1 AND BRCA2 GENES INJAPANESE BREAST-CANCER FAMILIES, JOURNAL OF HUMAN GENETICS, 43(1), 1998, pp. 42-48
IN-SITU DETECTION OF INSULIN-LIKE-GROWTH-FACTOR-II (IGF2) AND H19 GENE-EXPRESSION IN HEPATOCELLULAR-CARCINOMA
Authors: SOHDA T IWATA K SOEJIMA H KAMIMURA S SHIJO H YUN K
Citation: T. Sohda et al., IN-SITU DETECTION OF INSULIN-LIKE-GROWTH-FACTOR-II (IGF2) AND H19 GENE-EXPRESSION IN HEPATOCELLULAR-CARCINOMA, JOURNAL OF HUMAN GENETICS, 43(1), 1998, pp. 49-53
EXPRESSION ANALYSIS OF 2 MUTANT HUMAN ORNITHINE TRANSCARBAMYLASES IN COS-7 CELLS
Authors: KOGO T SATOH Y KANAZAWA M YAMAMOTO S TAKAYANAGI M OHTAKE A MORI M NIIMI H
Citation: T. Kogo et al., EXPRESSION ANALYSIS OF 2 MUTANT HUMAN ORNITHINE TRANSCARBAMYLASES IN COS-7 CELLS, JOURNAL OF HUMAN GENETICS, 43(1), 1998, pp. 54-58
NEW RADIOLOGICAL FINDING BY MAGNETIC-RESONANCE-IMAGING EXAMINATION OFTHE BRAIN IN COFFIN-LOWRY-SYNDROME
Authors: KONDOH T MATSUMOTO T OCHI M SUKEGAWA K TSUJI Y
Citation: T. Kondoh et al., NEW RADIOLOGICAL FINDING BY MAGNETIC-RESONANCE-IMAGING EXAMINATION OFTHE BRAIN IN COFFIN-LOWRY-SYNDROME, JOURNAL OF HUMAN GENETICS, 43(1), 1998, pp. 59-61
A SEVERE CASE OF MOEBIUS SYNDROME WITH CALCIFICATION ON THE 4TH VENTRICULAR FLOOR
Authors: MATSUNAGA Y AMAMOTO N KONDOH T OHTSUKA Y MIYAZOE H KAMIMURA N MATSUMOTO T TSUJI Y
Citation: Y. Matsunaga et al., A SEVERE CASE OF MOEBIUS SYNDROME WITH CALCIFICATION ON THE 4TH VENTRICULAR FLOOR, JOURNAL OF HUMAN GENETICS, 43(1), 1998, pp. 62-64
A CASE OF CRANIOFACIAL DYSMORPHISM, CONGENITAL HEART-DEFECTS, COCCYGEAL SKIN FOLDS, GENERALIZED SKELETAL ALTERATIONS, AND HEMIHYPERTROPHY WITH LINEAR SKIN HYPOPIGMENTATION - A NEW SYNDROME
Authors: NISHIMURA G NAGAI T
Citation: G. Nishimura et T. Nagai, A CASE OF CRANIOFACIAL DYSMORPHISM, CONGENITAL HEART-DEFECTS, COCCYGEAL SKIN FOLDS, GENERALIZED SKELETAL ALTERATIONS, AND HEMIHYPERTROPHY WITH LINEAR SKIN HYPOPIGMENTATION - A NEW SYNDROME, JOURNAL OF HUMAN GENETICS, 43(1), 1998, pp. 65-68
A SACII POLYMORPHISM IN THE HUMAN ASCL2 (HASH2) GENE REGION
Authors: MIYAMOTO T JINNO Y MIURA K SENGOKU K SOEJIMA H YUN K YAGINUMA Y NIIKAWA N ISHIKAWA M
Citation: T. Miyamoto et al., A SACII POLYMORPHISM IN THE HUMAN ASCL2 (HASH2) GENE REGION, JOURNAL OF HUMAN GENETICS, 43(1), 1998, pp. 69-70
ISOLATION AND MAPPING OF A POLYMORPHIC CA REPEAT SEQUENCE AT THE HUMAN INTERLEUKIN-6 LOCUS
Authors: TSUKAMOTO K HARUTA K SHIBA T EMI M
Citation: K. Tsukamoto et al., ISOLATION AND MAPPING OF A POLYMORPHIC CA REPEAT SEQUENCE AT THE HUMAN INTERLEUKIN-6 LOCUS, JOURNAL OF HUMAN GENETICS, 43(1), 1998, pp. 71-72
ISOLATION AND RADIATION HYBRID MAPPING OF DINUCLEOTIDE REPEAT POLYMORPHISM AT THE HUMAN ESTROGEN-RECEPTOR BETA-LOCUS
Authors: TSUKAMOTO K INOUE S HOSOI T ORIMO H EMI M
Citation: K. Tsukamoto et al., ISOLATION AND RADIATION HYBRID MAPPING OF DINUCLEOTIDE REPEAT POLYMORPHISM AT THE HUMAN ESTROGEN-RECEPTOR BETA-LOCUS, JOURNAL OF HUMAN GENETICS, 43(1), 1998, pp. 73-74
ISOLATION AND RADIATION HYBRID MAPPING OF DINUCLEOTIDE REPEAT POLYMORPHISM AT THE HUMAN MATRIX GLA PROTEIN (MGP) LOCUS
Authors: WATANABE I TSUKAMOTO K SHIBA T EMI M
Citation: I. Watanabe et al., ISOLATION AND RADIATION HYBRID MAPPING OF DINUCLEOTIDE REPEAT POLYMORPHISM AT THE HUMAN MATRIX GLA PROTEIN (MGP) LOCUS, JOURNAL OF HUMAN GENETICS, 43(1), 1998, pp. 75-76
Risultati: 1-25 | 26-48 |