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Results: 1-25/2253
Authors:
ROUQUIER S
FRIEDMAN C
DELETTRE C
VANDENENGH G
BLANCHER A
CROUAUROY B
TRASK BJ
GIORGI D
Citation: S. Rouquier et al., A GENE RECENTLY INACTIVATED IN HUMAN DEFINES A NEW OLFACTORY RECEPTORFAMILY IN MAMMALS, Human molecular genetics (Print), 7(9), 1998, pp. 1337-1345
Authors:
DU H
DUANMU M
WITTE D
GRABOWSKI GA
Citation: H. Du et al., TARGETED DISRUPTION OF THE MOUSE LYSOSOMAL ACID LIPASE GENE - LONG-TERM SURVIVAL WITH MASSIVE CHOLESTERYL ESTER AND TRIGLYCERIDE STORAGE, Human molecular genetics (Print), 7(9), 1998, pp. 1347-1354
Authors:
LUNKES A
MANDEL JL
Citation: A. Lunkes et Jl. Mandel, A CELLULAR-MODEL THAT RECAPITULATES MAJOR PATHOGENIC STEPS OF HUNTINGTONS-DISEASE, Human molecular genetics (Print), 7(9), 1998, pp. 1355-1361
Authors:
YUAN ZR
KOHSAKA T
IKEGAYA T
SUZUKI T
OKANO S
ABE J
KOBAYASHI N
YAMADA M
Citation: Zr. Yuan et al., MUTATIONAL ANALYSIS OF THE JAGGED-1 GENE IN ALAGILLE-SYNDROME FAMILIES, Human molecular genetics (Print), 7(9), 1998, pp. 1363-1369
Authors:
AGULNIK AI
ZHARKIKH A
BOETTGERTONG H
BOURGERON T
MCELREAVEY K
BISHOP CE
Citation: Ai. Agulnik et al., EVOLUTION OF THE DAZ GENE FAMILY SUGGESTS THAT Y-LINKED DAZ PLAYS LITTLE, OR A LIMITED, ROLE IN SPERMATOGENESIS BUT UNDERLINES A RECENT AFRICAN ORIGIN FOR HUMAN-POPULATIONS, Human molecular genetics (Print), 7(9), 1998, pp. 1371-1377
Authors:
KRUSHKAL J
XIONG MM
FERRELL R
SING CF
TURNER ST
BOERWINKLE E
Citation: J. Krushkal et al., LINKAGE AND ASSOCIATION OF ADRENERGIC AND DOPAMINE-RECEPTOR GENES IN THE DISTAL PORTION OF THE LONG ARM OF CHROMOSOME-5 WITH SYSTOLIC BLOOD-PRESSURE VARIATION, Human molecular genetics (Print), 7(9), 1998, pp. 1379-1383
Authors:
HOWARD PL
DALLY GY
WONG MH
HO A
WELEBER RG
PILLERS DM
RAY PN
Citation: Pl. Howard et al., LOCALIZATION OF DYSTROPHIN ISOFORM DP71 TO THE INNER LIMITING MEMBRANE OF THE RETINA SUGGESTS A UNIQUE FUNCTIONAL CONTRIBUTION OF DP71 IN THE RETINA, Human molecular genetics (Print), 7(9), 1998, pp. 1385-1391
Authors:
OBER C
COX NJ
ABNEY M
DIRIENZO A
LANDER ES
CHANGYALEKET B
GIDLEY H
KURTZ B
LEE J
NANCE M
PETTERSSON A
PRESCOTT J
RICHARDSON A
SCHLENKER E
SUMMERHILL E
WILLADSEN S
PARRY R
Citation: C. Ober et al., GENOME-WIDE SEARCH FOR ASTHMA SUSCEPTIBILITY LOCI IN A FOUNDER POPULATION, Human molecular genetics (Print), 7(9), 1998, pp. 1393-1398
Authors:
OKUMOTO K
ITOH R
SHIMOZAWA N
SUZUKI Y
TAMURA S
KONDO N
FUJIKI Y
Citation: K. Okumoto et al., MUTATIONS IN PEX10 IS THE CAUSE OF ZELLWEGER PEROXISOME DEFICIENCY SYNDROME OF COMPLEMENTATION GROUP-B, Human molecular genetics (Print), 7(9), 1998, pp. 1399-1405
Authors:
HEANEY C
SHALEV H
ELBEDOUR K
CARMI R
STAACK JB
SHEFFIELD VC
BEIER DR
Citation: C. Heaney et al., HUMAN AUTOSOMAL RECESSIVE OSTEOPETROSIS MAPS TO 11Q13, A POSITION PREDICTED BY COMPARATIVE MAPPING OF THE MURINE OSTEOSCLEROSIS (OC) MUTATION, Human molecular genetics (Print), 7(9), 1998, pp. 1407-1410
Authors:
GERAGHTY MT
VAUGHN D
NICHOLSON AJ
LIN WW
JIMENEZSANCHEZ G
OBIE C
FLYNN MP
VALLE D
HU CAA
Citation: Mt. Geraghty et al., MUTATIONS IN THE DELTA(1)-PYRROLINE 5-CARBOXYLATE DEHYDROGENASE GENE CAUSE TYPE-II HYPERPROLINEMIA, Human molecular genetics (Print), 7(9), 1998, pp. 1411-1415
Authors:
NINKINA NN
ALIMOVAKOST MV
PATERSON JWE
DELANEY L
COHEN BB
IMREH S
GNUCHEV NV
DAVIES AM
BUCHMAN VL
Citation: Nn. Ninkina et al., ORGANIZATION, EXPRESSION AND POLYMORPHISM OF THE HUMAN PERSYN GENE, Human molecular genetics (Print), 7(9), 1998, pp. 1417-1424
Authors:
COOPER G
RUBINSZTEIN DC
AMOS W
Citation: G. Cooper et al., ASCERTAINMENT BIAS CANNOT ENTIRELY ACCOUNT FOR HUMAN MICROSATELLITES BEING LONGER THAN THEIR CHIMPANZEE HOMOLOGS, Human molecular genetics (Print), 7(9), 1998, pp. 1425-1429
Authors:
WALDER K
NORMAN RA
HANSON RL
SCHRAUWEN P
NEVEROVA M
JENKINSON CP
EASLICK J
WARDEN CH
PECQUEUR C
RAIMBAULT S
RICQUIER D
HARPER M
SILVER K
SHULDINER AR
SOLANES G
LOWELL BB
CHUNG WK
LEIBEL RL
PRATLEY R
RAVUSSIN E
Citation: K. Walder et al., ASSOCIATION BETWEEN UNCOUPLING PROTEIN POLYMORPHISMS (UCP2-UCP3) AND ENERGY-METABOLISM OBESITY IN PIMA-INDIANS, Human molecular genetics (Print), 7(9), 1998, pp. 1431-1435
Authors:
SAHLY I
GOGAT K
KOBETZ A
MARCHANT D
MENASCHE M
CASTEL IN
REVAH F
DUFIER JL
GUERREMILLO M
ABITBOL MM
Citation: I. Sahly et al., PROMINENT NEURONAL-SPECIFIC TUB GENE-EXPRESSION IN CELLULAR TARGETS OF TUBBY MICE MUTATION, Human molecular genetics (Print), 7(9), 1998, pp. 1437-1447
Authors:
DORAY B
SALOMON R
AMIEL J
PELET A
TOURAINE R
BILLAUD M
ATTIE T
BACHY B
MUNNICH A
LYONNET S
Citation: B. Doray et al., MUTATION OF THE RET LIGAND, NEURTURIN, SUPPORTS MULTIGENIC INHERITANCE IN HIRSCHSPRUNG-DISEASE, Human molecular genetics (Print), 7(9), 1998, pp. 1449-1452
Authors:
PASTINEN T
PEROLA M
NIINI P
TERWILLIGER J
SALOMAA V
VARTIAINEN E
PELTONEN L
SYVANEN AC
Citation: T. Pastinen et al., ARRAY-BASED MULTIPLEX ANALYSIS OF CANDIDATE GENES REVEALS 2 INDEPENDENT AND ADDITIVE GENETIC RISK-FACTORS FOR MYOCARDIAL-INFARCTION IN THE FINNISH POPULATION, Human molecular genetics (Print), 7(9), 1998, pp. 1453-1462
Authors:
FABER PW
BARNES GT
SRINIDHI J
CHEN JM
GUSELLA JF
MACDONALD ME
Citation: Pw. Faber et al., HUNTINGTIN INTERACTS WITH A FAMILY OF WW DOMAIN PROTEINS, Human molecular genetics (Print), 7(9), 1998, pp. 1463-1474
Authors:
ANDERSON J
BURNS HD
ENRIQUEZHARRIS P
WILKIE AOM
HEATH JK
Citation: J. Anderson et al., APERT SYNDROME MUTATIONS IN FIBROBLAST-GROWTH-FACTOR RECEPTOR-2 EXHIBIT INCREASED AFFINITY FOR FGF LIGAND, Human molecular genetics (Print), 7(9), 1998, pp. 1475-1483
Authors:
KOUTNIKOVA H
CAMPUZANO V
KOENIG M
Citation: H. Koutnikova et al., MATURATION OF WILD-TYPE AND MUTATED FRATAXIN BY THE MITOCHONDRIAL PROCESSING PEPTIDASE, Human molecular genetics (Print), 7(9), 1998, pp. 1485-1489
Authors:
MCCARTHY EMS
PHILLIPS JA
Citation: Ems. Mccarthy et Ja. Phillips, CHARACTERIZATION OF AN INTRON SPLICE ENHANCER THAT REGULATES ALTERNATIVE SPLICING OF HUMAN GH PRE-MESSENGER-RNA, Human molecular genetics (Print), 7(9), 1998, pp. 1491-1496
Authors:
GOTTLIEB S
HANES SD
GOLDEN JA
OAKEY RJ
BUDARF ML
Citation: S. Gottlieb et al., GOOSECOID-LIKE, A GENE DELETED IN DIGEORGE AND VELOCARDIOFACIAL SYNDROMES, RECOGNIZES DNA WITH A BICOID-LIKE SPECIFICITY AND IS EXPRESSED IN THE DEVELOPING MOUSE-BRAIN, Human molecular genetics (Print), 7(9), 1998, pp. 1497-1505
Authors:
HOLMES C
ARRANZ MJ
POWELL JF
COLLIER DA
LOVESTONE S
Citation: C. Holmes et al., 5-HT2A AND 5-HT2C RECEPTOR POLYMORPHISMS AND PSYCHOPATHOLOGY IN LATE-ONSET ALZHEIMERS-DISEASE, Human molecular genetics (Print), 7(9), 1998, pp. 1507-1509
Authors:
LAMBERT JC
BERR C
PASQUIER F
DELACOURTE A
FRIGARD B
COTTEL D
PEREZTUR J
MOUROUX V
MOHR M
CECYRE D
GALASKO D
LENDON C
POIRIER J
HARDY J
MANN D
AMOUYEL P
CHARTIERHARLIN MC
Citation: Jc. Lambert et al., PRONOUNCED IMPACT OF TH1 E47CS MUTATION COMPARED WITH -491 AT MUTATION ON NEURAL APOE GENE-EXPRESSION AND RISK OF DEVELOPING ALZHEIMERS-DISEASE/, Human molecular genetics (Print), 7(9), 1998, pp. 1511-1516
Authors:
MARQUARDT A
STOHR H
PASSMORE LA
KRAMER F
RIVERA A
WEBER BHF
Citation: A. Marquardt et al., MUTATIONS IN A NOVEL GENE, VMD2, ENCODING A PROTEIN OF UNKNOWN PROPERTIES CAUSE JUVENILE-ONSET VITELLIFORM MACULAR DYSTROPHY (BESTS-DISEASE), Human molecular genetics (Print), 7(9), 1998, pp. 1517-1525