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Results: 1-25 | 26-36
Results: 1-25/36
ANALYSIS OF THE MONOAMINE-OXIDASE GENES AND THE NORRIE DISEASE GENE LOCUS IN NARCOLEPSY
Authors: KOCH H PARKES D DAHLITZ M CRAIG IW
Citation: H. Koch et al., ANALYSIS OF THE MONOAMINE-OXIDASE GENES AND THE NORRIE DISEASE GENE LOCUS IN NARCOLEPSY, American journal of medical genetics, 81(6), 1998, pp. 514-514
DETAILED ANALYSIS AND CLASSIFICATION OF A COMPLEX VNTR IN THE FIRST INTRON OF THE MONOAMINE-OXIDASE A GENE AND NEW SSR VARIANTS IN AND FLANKING THE MAOB GENE
Authors: KOCH HG DENNEY RM ROSS M CRAIG IW
Citation: Hg. Koch et al., DETAILED ANALYSIS AND CLASSIFICATION OF A COMPLEX VNTR IN THE FIRST INTRON OF THE MONOAMINE-OXIDASE A GENE AND NEW SSR VARIANTS IN AND FLANKING THE MAOB GENE, American journal of medical genetics, 81(6), 1998, pp. 514-514
2 NEW MUTATIONS IN EXON-3 OF THE NDP GENE - S73X AND S101F ASSOCIATEDWITH SEVERE AND LESS SEVERE OCULAR PHENOTYPE, RESPECTIVELY
Authors: WALKER JL DIXON J FENTON CR HUNGERFORD J LYNCH SA STENHOUSES SAR CHRISTIAN A CRAIG IW
Citation: Jl. Walker et al., 2 NEW MUTATIONS IN EXON-3 OF THE NDP GENE - S73X AND S101F ASSOCIATEDWITH SEVERE AND LESS SEVERE OCULAR PHENOTYPE, RESPECTIVELY, Human mutation, 9(1), 1997, pp. 53-56
CHARACTERIZATION OF RENAL CHLORIDE CHANNEL, CLCN5, MUTATIONS IN HYPERCALCIURIC NEPHROLITHIASIS (KIDNEY-STONES) DISORDERS
Authors: LLOYD SE GUNTHER W PEARCE SHS THOMSON A BIANCHI ML BOSIO M CRAIG IW FISHER SE SCHEINMAN SJ WRONG O JENTSCH TJ THAKKER RV
Citation: Se. Lloyd et al., CHARACTERIZATION OF RENAL CHLORIDE CHANNEL, CLCN5, MUTATIONS IN HYPERCALCIURIC NEPHROLITHIASIS (KIDNEY-STONES) DISORDERS, Human molecular genetics, 6(8), 1997, pp. 1233-1239
SEQUENCE-BASED EXON PREDICTION AROUND THE SYNAPTOPHYSIN LOCUS REVEALSA GENE-RICH AREA CONTAINING NOVEL GENES IN HUMAN PROXIMAL XP
Authors: FISHER SE CICCODICOLA A TANAKA K CURCI A DESICATO S DURSO M CRAIG IW
Citation: Se. Fisher et al., SEQUENCE-BASED EXON PREDICTION AROUND THE SYNAPTOPHYSIN LOCUS REVEALSA GENE-RICH AREA CONTAINING NOVEL GENES IN HUMAN PROXIMAL XP, Genomics, 45(2), 1997, pp. 340-347
LOCALIZATION OF HUMAN LIVER 6-PHOSPHOFRUCTO-2-KINASE FRUCTOSE-2,6-BISPHOSPHATASE (PFKFB1) WITHIN A YAC CONTIG IN XP11.21/
Authors: BATRA RS HATCHWELL E RIDER S BROWN R BROWN GK CRAIG IW
Citation: Rs. Batra et al., LOCALIZATION OF HUMAN LIVER 6-PHOSPHOFRUCTO-2-KINASE FRUCTOSE-2,6-BISPHOSPHATASE (PFKFB1) WITHIN A YAC CONTIG IN XP11.21/, Genomics, 40(2), 1997, pp. 358-361
DETAILED ANALYSIS OF A 2.5-MEGABASE GENOMIC REGION INCLUDING MAOA, MAOB, AND NDP GENES WHICH IS DELETED IN A CONTIGUOUS-GENE-SYNDROME WITH COMPLEX BEHAVIORAL DYSFUNCTION
Authors: SUAREZMERINO B WALKER J CRAIG IW
Citation: B. Suarezmerino et al., DETAILED ANALYSIS OF A 2.5-MEGABASE GENOMIC REGION INCLUDING MAOA, MAOB, AND NDP GENES WHICH IS DELETED IN A CONTIGUOUS-GENE-SYNDROME WITH COMPLEX BEHAVIORAL DYSFUNCTION, American journal of medical genetics, 74(6), 1997, pp. 639-639
CHARACTERIZATION AND MAPPING OF THE MOUSE NDP (NORRIE DISEASE) LOCUS (NDP)
Authors: BATTINELLI EM BOYD Y CRAIG IW BREAKEFIELD XO CHEN ZY
Citation: Em. Battinelli et al., CHARACTERIZATION AND MAPPING OF THE MOUSE NDP (NORRIE DISEASE) LOCUS (NDP), Mammalian genome, 7(2), 1996, pp. 93-97
MUTATIONS IN THE CHLORIDE CHANNEL GENE (CLCN5) ARE ASSOCIATED WITH HYPERCALCIURIC RICKETS AND NEPHROLITHIASIS
Authors: LLOYD SE PEARCE SHS THOMSON A BIANCHI ML CRAIG IW FISHER SE SCHEINMAN SJ WRONG OM THAKKER RV
Citation: Se. Lloyd et al., MUTATIONS IN THE CHLORIDE CHANNEL GENE (CLCN5) ARE ASSOCIATED WITH HYPERCALCIURIC RICKETS AND NEPHROLITHIASIS, Journal of bone and mineral research, 11, 1996, pp. 769-769
A COMMON MOLECULAR-BASIS FOR 3 INHERITED KIDNEY-STONE DISEASES
Authors: LLOYD SE PEARCE SHS FISHER SE STEINMEYER K SCHWAPPACH B SCHEINMAN SJ HARDING B BOLINO A DEVOTO M GOODYER P RIGDEN SPA WRONG O JENTSCH TJ CRAIG IW THAKKER RV
Citation: Se. Lloyd et al., A COMMON MOLECULAR-BASIS FOR 3 INHERITED KIDNEY-STONE DISEASES, Nature, 379(6564), 1996, pp. 445-449
MOLECULAR-CLONING AND TISSUE-SPECIFIC EXPRESSION OF MOUSE KIDNEY 6-PHOSPHOFRUCTO-2-KINASE FRUCTOSE-2,6-BISPHOSPHATASE/
Authors: BATRA RS BROWN R BROWN GK CRAIG IW
Citation: Rs. Batra et al., MOLECULAR-CLONING AND TISSUE-SPECIFIC EXPRESSION OF MOUSE KIDNEY 6-PHOSPHOFRUCTO-2-KINASE FRUCTOSE-2,6-BISPHOSPHATASE/, FEBS letters, 393(2-3), 1996, pp. 167-173
MUTATIONS IN THE NORRIE DISEASE GENE
Authors: SCHUBACK DE CHEN ZY CRAIG IW BREAKEFIELD XO SIMS KB
Citation: De. Schuback et al., MUTATIONS IN THE NORRIE DISEASE GENE, Human mutation, 5(4), 1995, pp. 285-292
ROLE OF A VOLTAGE-GATED CHLORIDE-CHANNEL GENE CLC-5 IN HUMAN AND RAT HYPERCALCIURIA
Authors: SCHEINMAN SJ LLOYD SE PEARCE SHS HOPPES RR FISHER SE CRAIG IW JENTSCH TJ BUSHINSKY DA THAKKER RV
Citation: Sj. Scheinman et al., ROLE OF A VOLTAGE-GATED CHLORIDE-CHANNEL GENE CLC-5 IN HUMAN AND RAT HYPERCALCIURIA, Journal of the American Society of Nephrology, 6(3), 1995, pp. 727-727
MUSCLE X-INACTIVATION PATTERNS AND DYSTROPHIN EXPRESSION IN DUCHENNE MUSCULAR-DYSTROPHY CARRIERS
Authors: MATTHEWS PM BENJAMIN D VANBAKEL I SQUIER MV NICHOLSON LVB SEWRY C BARNES PRJ HOPKIN J BROWN R HILTONJONES D BOYD Y KARPATI G BROWN GK CRAIG IW
Citation: Pm. Matthews et al., MUSCLE X-INACTIVATION PATTERNS AND DYSTROPHIN EXPRESSION IN DUCHENNE MUSCULAR-DYSTROPHY CARRIERS, Neuromuscular disorders, 5(3), 1995, pp. 209-220
LEBER HEREDITARY OPTIC NEUROPATHY - IMPLICATIONS OF THE SEX-RATIO FORLINKAGE STUDIES IN FAMILIES WITH THE 3460 ND1 MUTATION
Authors: BLACK GCM CRAIG IW OOSTRA RJ NORBY S ROSENBERG T MORTEN K LABORDE A POULTON J
Citation: Gcm. Black et al., LEBER HEREDITARY OPTIC NEUROPATHY - IMPLICATIONS OF THE SEX-RATIO FORLINKAGE STUDIES IN FAMILIES WITH THE 3460 ND1 MUTATION, Eye, 9, 1995, pp. 513-516
LONG-RANGE ORGANIZATION OF REITERATED SEQUENCES, INCLUDING THE SSX1 CDNA, AT THE OATL1 CLUSTER IN XP11.23
Authors: CHAND A CLARK J COOPER CS CRAIG IW
Citation: A. Chand et al., LONG-RANGE ORGANIZATION OF REITERATED SEQUENCES, INCLUDING THE SSX1 CDNA, AT THE OATL1 CLUSTER IN XP11.23, Genomics, 30(3), 1995, pp. 545-552
CLONING AND CHARACTERIZATION OF CLCN5, THE HUMAN KIDNEY CHLORIDE CHANNEL GENE IMPLICATED IN DENT DISEASE (AN X-LINKED HEREDITARY NEPHROLITHIASIS)
Authors: FISHER SE VANBAKEL I LLOYD SE PEARCE SHS THAKKER RV CRAIG IW
Citation: Se. Fisher et al., CLONING AND CHARACTERIZATION OF CLCN5, THE HUMAN KIDNEY CHLORIDE CHANNEL GENE IMPLICATED IN DENT DISEASE (AN X-LINKED HEREDITARY NEPHROLITHIASIS), Genomics, 29(3), 1995, pp. 598-606
CONSTRUCTION OF 2 YAC CONTIGS IN HUMAN XP11.23-P11.22, ONE ENCOMPASSING THE LOCI OATL1,GATA,TFE3, AND SYP, THE OTHER LINKING DXS255 TO DXS146
Authors: FISHER SE HATCHWELL E CHAND A OCKENDEN N MONACO AP CRAIG IW
Citation: Se. Fisher et al., CONSTRUCTION OF 2 YAC CONTIGS IN HUMAN XP11.23-P11.22, ONE ENCOMPASSING THE LOCI OATL1,GATA,TFE3, AND SYP, THE OTHER LINKING DXS255 TO DXS146, Genomics, 29(2), 1995, pp. 496-502
HIGH-RESOLUTION COMPARATIVE MAPPING OF THE PROXIMAL REGION OF THE MOUSE X-CHROMOSOME
Authors: BLAIR HJ HO MF MONACO AP FISHER S CRAIG IW BOYD Y
Citation: Hj. Blair et al., HIGH-RESOLUTION COMPARATIVE MAPPING OF THE PROXIMAL REGION OF THE MOUSE X-CHROMOSOME, Genomics, 28(2), 1995, pp. 305-310
A BIDIRECTIONAL YAC WALK FROM THE NORRIE DISEASE (NDP) LOCUS
Authors: BLACK GCM COLEMAN MP CHEN ZY NEMETH AH DAVIES KE CRAIG IW
Citation: Gcm. Black et al., A BIDIRECTIONAL YAC WALK FROM THE NORRIE DISEASE (NDP) LOCUS, Genomics, 25(3), 1995, pp. 644-649
HEREDITARY NEPHROLITHIASIS IS ASSOCIATED WITH MUTATIONS IN AN X-LINKED CHLORIDE CHANNEL GENE
Authors: LLOYD SE PEARCE SIS FISHER SE HARDING B SCHEINMAN SJ GOODYER P WRONG OM CRAIG IW THAKKER RV
Citation: Se. Lloyd et al., HEREDITARY NEPHROLITHIASIS IS ASSOCIATED WITH MUTATIONS IN AN X-LINKED CHLORIDE CHANNEL GENE, Journal of bone and mineral research, 10, 1995, pp. 175-175
ANALYSIS OF THE GENE ENCODING AN X-LINKED VOLTAGE-GATED CHLORIDE CHANNEL IN IDIOPATHIC HYPERCALIURIA
Authors: SCHEINMAN SJ LLOYD SE PEARCE SHS FISHER SE SALENGER PV HOOPES RR CRAIG IW THAKKER RV
Citation: Sj. Scheinman et al., ANALYSIS OF THE GENE ENCODING AN X-LINKED VOLTAGE-GATED CHLORIDE CHANNEL IN IDIOPATHIC HYPERCALIURIA, Journal of bone and mineral research, 10, 1995, pp. 192-192
MAPPING THE X-CHROMOSOME BREAKPOINT IN 2 PAPILLARY RENAL-CELL CARCINOMA CELL-LINES WITH A T(X-1)(P11.2-Q21.2) AND THE FIRST REPORT OF A FEMALE CASE
Authors: SHIPLEY JM BIRDSALL S CLARK J CREW J GILL S LINEHAN M GNARRA J FISHER S CRAIG IW COOPER CS
Citation: Jm. Shipley et al., MAPPING THE X-CHROMOSOME BREAKPOINT IN 2 PAPILLARY RENAL-CELL CARCINOMA CELL-LINES WITH A T(X-1)(P11.2-Q21.2) AND THE FIRST REPORT OF A FEMALE CASE, Cytogenetics and cell genetics, 71(3), 1995, pp. 280-284
FUNCTIONAL DISOMY OF A LOCUS (LOCI) IN XP AND HYPOMELANOSIS OF ITO
Authors: HATCHWELL E CRAIG IW
Citation: E. Hatchwell et Iw. Craig, FUNCTIONAL DISOMY OF A LOCUS (LOCI) IN XP AND HYPOMELANOSIS OF ITO, Journal of Medical Genetics, 32(2), 1995, pp. 138-139
ABSENCE OF THE XIST GENE FROM LATE-REPLICATING ISODICENTRIC X-CHROMOSOMES IN LEUKEMIA
Authors: RACK KA CHELLY J GIBBONS RJ RIDER S BENJAMIN D LAFRENIERE RG OSCIER D HENDRIKS RW CRAIG IW WILLARD HF MONACO AP BUCKLE VJ
Citation: Ka. Rack et al., ABSENCE OF THE XIST GENE FROM LATE-REPLICATING ISODICENTRIC X-CHROMOSOMES IN LEUKEMIA, Human molecular genetics, 3(7), 1994, pp. 1053-1059
Risultati: 1-25 | 26-36