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Results: 1-19 |
Results: 19
THE TREACHER-COLLINS-SYNDROME (TCOF1) GENE-PRODUCT, TREACLE, IS TARGETED TO THE NUCLEOLUS BY SIGNALS IN ITS C-TERMINUS
Authors: WINOKUR ST SHIANG R
Citation: St. Winokur et R. Shiang, THE TREACHER-COLLINS-SYNDROME (TCOF1) GENE-PRODUCT, TREACLE, IS TARGETED TO THE NUCLEOLUS BY SIGNALS IN ITS C-TERMINUS, Human molecular genetics (Print), 7(12), 1998, pp. 1947-1952
STUDIES OF THE CANDIDATE GENES TGFB2, MSX1, TGFA, AND TGFB3 IN THE ETIOLOGY OF CLEFT-LIP AND PALATE IN THE PHILIPPINES
Authors: LIDRAL AC MURRAY JC BUETOW KH BASART AM SCHEARER H SHIANG R NAVAL A LAYDA E MAGEE K MAGEE W
Citation: Ac. Lidral et al., STUDIES OF THE CANDIDATE GENES TGFB2, MSX1, TGFA, AND TGFB3 IN THE ETIOLOGY OF CLEFT-LIP AND PALATE IN THE PHILIPPINES, The Cleft palate-craniofacial journal, 34(1), 1997, pp. 1-6
HIGH-RESOLUTION PHYSICAL AND TRANSCRIPT MAP OF THE CRI DU CHAT REGIONOF HUMAN-CHROMOSOME 5P
Authors: CHURCH DM YANG J BOCIAN M SHIANG R WASMUTH JJ
Citation: Dm. Church et al., HIGH-RESOLUTION PHYSICAL AND TRANSCRIPT MAP OF THE CRI DU CHAT REGIONOF HUMAN-CHROMOSOME 5P, PCR methods and applications, 7(8), 1997, pp. 787-801
SEQUENCE-ANALYSIS, IDENTIFICATION OF EVOLUTIONARY CONSERVED MOTIFS AND EXPRESSION ANALYSIS OF MURINE TCOF1 PROVIDE FURTHER EVIDENCE FOR A POTENTIAL FUNCTION FOR THE GENE AND ITS HUMAN HOMOLOG, TCOF1
Authors: DIXON J HOVANES K SHIANG R DIXON MJ
Citation: J. Dixon et al., SEQUENCE-ANALYSIS, IDENTIFICATION OF EVOLUTIONARY CONSERVED MOTIFS AND EXPRESSION ANALYSIS OF MURINE TCOF1 PROVIDE FURTHER EVIDENCE FOR A POTENTIAL FUNCTION FOR THE GENE AND ITS HUMAN HOMOLOG, TCOF1, Human molecular genetics, 6(5), 1997, pp. 727-737
HYPEREKPLEXIA-LIKE SYNDROMES WITHOUT MUTATIONS IN THE GLRA1 GENE
Authors: VERGOUWE MN TIJSSEN MAJ SHIANG R VANDIJK JG ALSHAHWAN S OPHOFF RA FRANTS RR
Citation: Mn. Vergouwe et al., HYPEREKPLEXIA-LIKE SYNDROMES WITHOUT MUTATIONS IN THE GLRA1 GENE, Clinical neurology and neurosurgery, 99(3), 1997, pp. 172-178
RNA TRANSCRIPT LEVELS AND SUBCELLULAR-LOCALIZATION OF TREACLE - INSIGHTS INTO THE MOLECULAR MECHANISM OF TREACHER-COLLINS-SYNDROME
Authors: WINOKUR ST SHIANG R
Citation: St. Winokur et R. Shiang, RNA TRANSCRIPT LEVELS AND SUBCELLULAR-LOCALIZATION OF TREACLE - INSIGHTS INTO THE MOLECULAR MECHANISM OF TREACHER-COLLINS-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 222-222
MOLECULAR, RADIOGRAPHIC, AND HISTOPATHOLOGIC CORRELATIONS IN THANATOPHORIC DYSPLASIA
Authors: WILCOX WR TAVORMINA PL SHIANG R THOMPSON LM ZHU YZ WILKIN DJ COHN DH WASMUTH JJ LACHMAN RS RIMOIN DL
Citation: Wr. Wilcox et al., MOLECULAR, RADIOGRAPHIC, AND HISTOPATHOLOGIC CORRELATIONS IN THANATOPHORIC DYSPLASIA, Journal of investigative medicine, 44(1), 1996, pp. 105-105
HOT PAPERS - GENETICS - MUTATIONS IN THE TRANSMEMBRANE DOMAIN OF FGFR3 CAUSE THE MOST COMMON GENETIC FORM OF DWARFISM, ACHONDROPLASIA BY SHIANG,R., THOMPSON,L.M., ZHU,Y., CHURCH,D.M., FIELDER,T.J., BOCIAN,M., WINOKUR,S.T., WASMUTH,J.J. - COMMENTS
Authors: THOMPSON LM SHIANG R
Citation: Lm. Thompson et R. Shiang, HOT PAPERS - GENETICS - MUTATIONS IN THE TRANSMEMBRANE DOMAIN OF FGFR3 CAUSE THE MOST COMMON GENETIC FORM OF DWARFISM, ACHONDROPLASIA BY SHIANG,R., THOMPSON,L.M., ZHU,Y., CHURCH,D.M., FIELDER,T.J., BOCIAN,M., WINOKUR,S.T., WASMUTH,J.J. - COMMENTS, The Scientist, 10(6), 1996, pp. 14-14
THANATOPHORIC DYSPLASIA (TYPE-I AND TYPE-II) CAUSED BY DISTINCT MUTATIONS IN FIBROBLAST GROWTH-FACTOR RECEPTOR-3
Authors: TAVORMINA PL SHIANG R THOMPSON LM ZHU YZ WILKIN DJ LACHMAN RS WILCOX WR RIMOIN DL COHN DH WASMUTH JJ
Citation: Pl. Tavormina et al., THANATOPHORIC DYSPLASIA (TYPE-I AND TYPE-II) CAUSED BY DISTINCT MUTATIONS IN FIBROBLAST GROWTH-FACTOR RECEPTOR-3, Nature genetics, 9(3), 1995, pp. 321-328
ANOTHER MUTATION THAT RESULTS IN THE SUBSTITUTION OF AN UNPAIRED CYSTEINE RESIDUE IN THE EXTRACELLULAR DOMAIN OF FGFR3 IN THANATOPHORIC DYSPLASIA TYPE-I
Authors: TAVORMINA PL RIMOIN DL COHN DH ZHU YZ SHIANG R WASMUTH JJ
Citation: Pl. Tavormina et al., ANOTHER MUTATION THAT RESULTS IN THE SUBSTITUTION OF AN UNPAIRED CYSTEINE RESIDUE IN THE EXTRACELLULAR DOMAIN OF FGFR3 IN THANATOPHORIC DYSPLASIA TYPE-I, Human molecular genetics, 4(11), 1995, pp. 2175-2177
MUTATIONAL ANALYSIS OF FAMILIAL AND SPORADIC HYPEREKPLEXIA
Authors: SHIANG R RYAN SG ZHU YZ FIELDER TJ ALLEN RJ FRYER A YAMASHITA S OCONNELL P WASMUTH JJ
Citation: R. Shiang et al., MUTATIONAL ANALYSIS OF FAMILIAL AND SPORADIC HYPEREKPLEXIA, Annals of neurology, 38(1), 1995, pp. 85-91
MOLECULAR-GENETIC REEVALUATION OF THE DUTCH HYPEREKPLEXIA FAMILY
Authors: TIJSSEN MAJ SHIANG R VANDEUTEKOM J BOERMAN RH WASMUTH JJ SANDKUIJL LA FRANTS RR PADBERG GW
Citation: Maj. Tijssen et al., MOLECULAR-GENETIC REEVALUATION OF THE DUTCH HYPEREKPLEXIA FAMILY, Archives of neurology, 52(6), 1995, pp. 578-582
A MISSENSE MUTATION IN THE GENE ENCODING THE ALPHA(1) SUBUNIT OF THE INHIBITORY GLYCINE RECEPTOR IN THE SPASMODIC MOUSE
Authors: RYAN SG BUCKWALTER MS LYNCH JW HANDFORD CA SEGURA L SHIANG R WASMUTH JJ CAMPER SA SCHOFIELD P OCONNELL P
Citation: Sg. Ryan et al., A MISSENSE MUTATION IN THE GENE ENCODING THE ALPHA(1) SUBUNIT OF THE INHIBITORY GLYCINE RECEPTOR IN THE SPASMODIC MOUSE, Nature genetics, 7(2), 1994, pp. 131-135
GENES ENCODING ADRENERGIC-RECEPTORS ARE NOT CLUSTERED ON THE LONG ARMOF HUMAN-CHROMOSOME-5
Authors: LOFTUS SK SHIANG R WARRINGTON JA BENGTSSON U MCPHERSON JD WASMUTH JJ
Citation: Sk. Loftus et al., GENES ENCODING ADRENERGIC-RECEPTORS ARE NOT CLUSTERED ON THE LONG ARMOF HUMAN-CHROMOSOME-5, Cytogenetics and cell genetics, 67(2), 1994, pp. 69-74
MUTATIONS IN THE TRANSMEMBRANE DOMAIN OF FGFR3 CAUSE THE MOST COMMON GENETIC FORM OF DWARFISM, ACHONDROPLASIA
Authors: SHIANG R THOMPSON LM ZHU YZ CHURCH DM FIELDER TJ BOCIAN M WINOKUR ST WASMUTH JJ
Citation: R. Shiang et al., MUTATIONS IN THE TRANSMEMBRANE DOMAIN OF FGFR3 CAUSE THE MOST COMMON GENETIC FORM OF DWARFISM, ACHONDROPLASIA, Cell, 78(2), 1994, pp. 335-342
MUTATIONS IN THE ALPHA-1 SUBUNIT OF THE INHIBITORY GLYCINE RECEPTOR CAUSE THE DOMINANT NEUROLOGIC DISORDER, HYPEREKPLEXIA
Authors: SHIANG R RYAN SG ZHU YZ HAHN AF OCONNELL P WASMUTH JJ
Citation: R. Shiang et al., MUTATIONS IN THE ALPHA-1 SUBUNIT OF THE INHIBITORY GLYCINE RECEPTOR CAUSE THE DOMINANT NEUROLOGIC DISORDER, HYPEREKPLEXIA, Nature genetics, 5(4), 1993, pp. 351-358
THE CEPH CONSORTIUM LINKAGE MAP OF HUMAN CHROMOSOME-13
Authors: BOWCOCK AM GERKEN SC BARNES RI SHIANG R JABS EW WARREN AC ANTONARAKIS S RETIEF AE VERGNAUD G LEPPERT M LALOUEL JM WHITE RL CAVALLISFORZA LL
Citation: Am. Bowcock et al., THE CEPH CONSORTIUM LINKAGE MAP OF HUMAN CHROMOSOME-13, Genomics, 16(2), 1993, pp. 486-496
STUDIES OF TGFA AS A CANDIDATE GENE FOR CLEFT-LIP AND PALATE ON HUMANCHROMOSOME-2
Authors: SHIANG R LIDRAL AC ARDINGER HH BUETOW KH ROMITTI P MUNGER R BELL G HANSON JW MURRAY JC
Citation: R. Shiang et al., STUDIES OF TGFA AS A CANDIDATE GENE FOR CLEFT-LIP AND PALATE ON HUMANCHROMOSOME-2, Cytogenetics and cell genetics, 64(2), 1993, pp. 91-91
ASSOCIATION OF TRANSFORMING GROWTH-FACTOR ALPHA-GENE POLYMORPHISMS WITH NONSYNDROMIC CLEFT-PALATE ONLY (CPO)
Authors: SHIANG R LIDRAL AC ARDINGER HH BUETOW KH ROMITTI PA MUNGER RG MURRAY JC
Citation: R. Shiang et al., ASSOCIATION OF TRANSFORMING GROWTH-FACTOR ALPHA-GENE POLYMORPHISMS WITH NONSYNDROMIC CLEFT-PALATE ONLY (CPO), American journal of human genetics, 53(4), 1993, pp. 836-843
Risultati: 1-19 |