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Results: 1-25 | 26-50 | 51-64
Results: 1-25/64
AN L-TYPE CALCIUM-CHANNEL GENE MUTATED IN INCOMPLETE X-LINKED CONGENITAL STATIONARY NIGHT BLINDNESS
Authors: STROM TM NYAKATURA G APFELSTEDTSYLLA E HELLEBRAND H LORENZ B WEBER BHF WUTZ K GUTWILLINGER N RUTHER K DRESCHER B SAUER C ZRENNER E MEITINGER T ROSENTHAL A MEINDL A
Citation: Tm. Strom et al., AN L-TYPE CALCIUM-CHANNEL GENE MUTATED IN INCOMPLETE X-LINKED CONGENITAL STATIONARY NIGHT BLINDNESS, Nature genetics, 19(3), 1998, pp. 260-263
DELETION MAPPING ON CHROMOSOME 10P AND DEFINITION OF A CRITICAL REGION FOR THE 2ND DIGEORGE-SYNDROME LOCUS (DGS2)
Authors: SCHUFFENHAUER S LICHTNER P PEYKARDERAKHSHANDEH P MURKEN J HAAS OA BACK E WOLFF G ZABEL B BARISIC I RAUCH A BOROCHOWITZ Z DALLAPICCOLA B ROSS M MEITINGER T
Citation: S. Schuffenhauer et al., DELETION MAPPING ON CHROMOSOME 10P AND DEFINITION OF A CRITICAL REGION FOR THE 2ND DIGEORGE-SYNDROME LOCUS (DGS2), European journal of human genetics, 6(3), 1998, pp. 213-225
CLONING AND GENE STRUCTURE OF THE ROD CGMP PHOSPHODIESTERASE DELTA-SUBUNIT GENE (PDED) IN MAN AND MOUSE
Authors: LORENZ B MIGLIACCIO C LICHTNER P MEYER C STROM TM DURSO M BECKER J CICCODICOLA A MEITINGER T
Citation: B. Lorenz et al., CLONING AND GENE STRUCTURE OF THE ROD CGMP PHOSPHODIESTERASE DELTA-SUBUNIT GENE (PDED) IN MAN AND MOUSE, European journal of human genetics, 6(3), 1998, pp. 283-290
GY PROVIDES A MOUSE MODEL FOR SPERMINE SYNTHASE DEFICIENCY
Authors: LORENZ B FRANCIS F GEMPEL K BOEDDRICH A JOSTEN M SCHMAHL W SCHMIDT J LEHRACH H MEITINGER T STROM TM
Citation: B. Lorenz et al., GY PROVIDES A MOUSE MODEL FOR SPERMINE SYNTHASE DEFICIENCY, European journal of human genetics, 6, 1998, pp. 802-802
THE DELTA-SUBUNIT OF ROD PHOSPHODIESTERASE INTERACTS WITH THE RCC1 HOMOLOGOUS DOMAIN OF RPGR
Authors: LINARI M MANSON F WRIGHT A MEINDL A MEITINGER T BECKER J
Citation: M. Linari et al., THE DELTA-SUBUNIT OF ROD PHOSPHODIESTERASE INTERACTS WITH THE RCC1 HOMOLOGOUS DOMAIN OF RPGR, European journal of human genetics, 6, 1998, pp. 902-902
GENETIC-HETEROGENEITY OF CONGENITAL FIBROSIS OF THE EXTRAOCULAR-MUSCLES (CFEOM)
Authors: GOLLA A BOERGEN KP RUDOLPH G WILLMEROTH C SCHWORM H MURKEN J MEITINGER T
Citation: A. Golla et al., GENETIC-HETEROGENEITY OF CONGENITAL FIBROSIS OF THE EXTRAOCULAR-MUSCLES (CFEOM), European journal of human genetics, 6, 1998, pp. 4136-4136
ABERRANT RPGR SPLICING PATTERNS IN XIRP PATIENTS
Authors: HOLINSKIFEDER E LORENZ B MEYER C DOERNER C HERRMANN K UEFFING M MEITINGER T
Citation: E. Holinskifeder et al., ABERRANT RPGR SPLICING PATTERNS IN XIRP PATIENTS, European journal of human genetics, 6, 1998, pp. 4190-4190
GENOMIC ORGANIZATION OF THE GDNF GENE AND FUNCTIONAL-ANALYSIS OF THE DISTAL PROMOTER REGION
Authors: GRIMM L HOLINSKIFEDER E TEODORIDIS J SCHINDELHAUER D MEITINGER T UEFFING M
Citation: L. Grimm et al., GENOMIC ORGANIZATION OF THE GDNF GENE AND FUNCTIONAL-ANALYSIS OF THE DISTAL PROMOTER REGION, European journal of human genetics, 6, 1998, pp. 4195-4195
MITOP-DATABASE FOR MITOCHONDRIA-RELATED PROTEINS, GENES AND DISEASES
Authors: SCHARFE C ZACCARIA P LILL R HOERTNAGEL K GERBITZ KD MEWES HW MEITINGER T
Citation: C. Scharfe et al., MITOP-DATABASE FOR MITOCHONDRIA-RELATED PROTEINS, GENES AND DISEASES, European journal of human genetics, 6, 1998, pp. 4238-4238
SPERMINE DEFICIENCY IN GY MICE CAUSED BY DELETION OF THE SPERMINE SYNTHASE GENE
Authors: LORENZ B FRANCIS F GEMPEL K BODDRICH A JOSTEN M SCHMAHL W SCHMIDT J LEHRACH H MEITINGER T STROM TM
Citation: B. Lorenz et al., SPERMINE DEFICIENCY IN GY MICE CAUSED BY DELETION OF THE SPERMINE SYNTHASE GENE, Human molecular genetics, 7(3), 1998, pp. 541-547
ANALYSIS OF THE HUMAN GDNF GENE REVEALS AN INDUCIBLE PROMOTER, 3 EXONS, A TRIPLET REPEAT WITHIN THE 3'-UTR AND ALTERNATIVE SPLICE PRODUCTS
Authors: GRIMM L HOLINSKIFEDER E TEODORIDIS J SCHEFFER B SCHINDELHAUER D MEITINGER T UEFFING M
Citation: L. Grimm et al., ANALYSIS OF THE HUMAN GDNF GENE REVEALS AN INDUCIBLE PROMOTER, 3 EXONS, A TRIPLET REPEAT WITHIN THE 3'-UTR AND ALTERNATIVE SPLICE PRODUCTS, Human molecular genetics (Print), 7(12), 1998, pp. 1873-1886
A HIGH-RISK PHENOTYPE OF HYPERTROPHIC CARDIOMYOPATHY ASSOCIATED WITH A COMPOUND GENOTYPE OF 2 MUTATED BETA-MYOSIN HEAVY-CHAIN GENES
Authors: JESCHKE B UHL K WEIST B SCHRODER D MEITINGER T DOHLEMANN C VOSBERG HP
Citation: B. Jeschke et al., A HIGH-RISK PHENOTYPE OF HYPERTROPHIC CARDIOMYOPATHY ASSOCIATED WITH A COMPOUND GENOTYPE OF 2 MUTATED BETA-MYOSIN HEAVY-CHAIN GENES, Human genetics, 102(3), 1998, pp. 299-304
A SYSTEMATIC MUTATION SCREEN OF 10 NUCLEAR AND 25 MITOCHONDRIAL CANDIDATE GENES IN 21 PATIENTS WITH CYTOCHROME-C-OXIDASE (COX) DEFICIENCY SHOWS TRNA(SER(UCN)) MUTATIONS IN A SUBGROUP WITH SYNDROMAL ENCEPHALOPATHY
Authors: JAKSCH M HOFMANN S KLEINLE S LIECHTIGALLATI S PONGRATZ DE MULLERHOCKER J JEDELE KB MEITINGER T GERBITZ KD
Citation: M. Jaksch et al., A SYSTEMATIC MUTATION SCREEN OF 10 NUCLEAR AND 25 MITOCHONDRIAL CANDIDATE GENES IN 21 PATIENTS WITH CYTOCHROME-C-OXIDASE (COX) DEFICIENCY SHOWS TRNA(SER(UCN)) MUTATIONS IN A SUBGROUP WITH SYNDROMAL ENCEPHALOPATHY, Journal of Medical Genetics, 35(11), 1998, pp. 895-900
LACK OF EVIDENCE FOR GENETIC-HETEROGENEITY IN BEST VITELLIFORM MACULAR DYSTROPHY
Authors: MANSERGH F MEITINGER T RODOLPH G HUMPHRIES P FARRAR GJ
Citation: F. Mansergh et al., LACK OF EVIDENCE FOR GENETIC-HETEROGENEITY IN BEST VITELLIFORM MACULAR DYSTROPHY, Journal of Medical Genetics, 35(1), 1998, pp. 85-86
ANALYSIS OF AN INTERSTITIAL DELETION IN A PATIENT WITH KALLMANN-SYNDROME, X-LINKED ICHTHYOSIS AND MENTAL-RETARDATION
Authors: WEISSORTEL R STROM TM DORR HG RAUCH A MEITINGER T
Citation: R. Weissortel et al., ANALYSIS OF AN INTERSTITIAL DELETION IN A PATIENT WITH KALLMANN-SYNDROME, X-LINKED ICHTHYOSIS AND MENTAL-RETARDATION, Clinical genetics, 54(1), 1998, pp. 45-51
WIDENING THE VIEW
Authors: MEITINGER T
Citation: T. Meitinger, WIDENING THE VIEW, Nature genetics, 15(3), 1997, pp. 224-225
GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS
Authors: ESTIVILL X BANCELLS C RAMOS C PIAZZA A CARBONARA A MASTELLA G BONIZZATO A CASTALDI G DALCAMO E FERRARI M GASPARINI P GUANTI G LEONI GB PIGNATTI PF RONCHETTO P SEIA M TORRICELLI F GOOSSENS M CHEVALIERPORST F BOZON D SIMONBOUY B FELDMANN D ELION J KAPLAN JC FEREC C CLAUSTRES M CLAVEL C PUCHELLE E LUNARDI J MATHIEU M SCHEFFER H HALLEY DJJ VANDENOUWELAND AMW TIJMENSEN ASLN CASALS T GIMENEZ FJ RAMOS L BENEYTO M BENITEZ J PALACIO A TUMMLER B BAUER I MEITINGER T CLAASS A LINDNER M SCHRODER E STUHRMANN M CASSIMAN J CUPPENS H COCHAUX P PONCIN J MESSIAN L BARANOV VS IVASCHENKO TE BAKAY M BAL J WITT M KANAVAKIS M TZETIS M ANTONIADI T LAVINHA J PACHECO P DUARTE A LOUREIRO P KALAYDJIEVA L ANGELICHEVA D JORDANOVA A SAVOV A EIKLID K HOLMBERG L SCHAEDEL C OZGUC M GOCMEN A ERDERN H LIECHTIGALLATI S NEMETI M FEKETE G KLAASSEN T SCHWARZ M SCHWARTZ M MACEK M MACEK M KREBSOVA A VAVROVA V KEREM B AVELIOVICH D FERAK V KADASI L KAYSEROVA H GLAVAC D RAVNIKGLAVAC M EFREMOV GD CANKIKLEIN N KERE J
Citation: X. Estivill et al., GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS, Human mutation, 10(2), 1997, pp. 135-154
GENOMIC ORGANIZATION OF THE HUMAN PEX GENE MUTATED IN X-LINKED DOMINANT HYPOPHOSPHATEMIC RICKETS
Authors: FRANCIS F STROM TM HENNIG S BODDRICH A LORENZ B BRANDAU O MOHNIKE KL CAGNOLI M STEFFENS C KLAGES S BORZYM K POHL T OUDET C ECONS MJ ROWE PSN REINHARDT R MEITINGER T LEHRACH H
Citation: F. Francis et al., GENOMIC ORGANIZATION OF THE HUMAN PEX GENE MUTATED IN X-LINKED DOMINANT HYPOPHOSPHATEMIC RICKETS, PCR methods and applications, 7(6), 1997, pp. 573-585
DISTRIBUTION OF MUTATIONS IN THE PEX GENE IN FAMILIES WITH X-LINKED HYPOPHOSPHATEMIC RICKETS (HYP)
Authors: ROWE PSN OUDET CL FRANCIS F SINDING C PANNETIER S ECONS MJ STROM TM MEITINGER T GARABEDIAN M DAVID A MACHER MA QUESTIAUX E POPOWSKA E PRONICKA E READ AP MOKRZYCKI A GLORIEUX FH DREZNER MK HANAUER A LEHRACH H GOULDING JN ORIORDAN JLH
Citation: Psn. Rowe et al., DISTRIBUTION OF MUTATIONS IN THE PEX GENE IN FAMILIES WITH X-LINKED HYPOPHOSPHATEMIC RICKETS (HYP), Human molecular genetics, 6(4), 1997, pp. 539-549
PEX GENE DELETIONS IN GY AND HYP MICE PROVIDE MOUSE MODELS FOR X-LINKED HYPOPHOSPHATEMIA
Authors: STROM TM FRANCIS F LORENZ B BODDRICH A ECONS MJ LEHRACH H MEITINGER T
Citation: Tm. Strom et al., PEX GENE DELETIONS IN GY AND HYP MICE PROVIDE MOUSE MODELS FOR X-LINKED HYPOPHOSPHATEMIA, Human molecular genetics, 6(2), 1997, pp. 165-171
REPORT OF THE 2ND INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-10 MAPPING 1997
Authors: MEITINGER T SCHARFE C CALL K MOSCHONAS N
Citation: T. Meitinger et al., REPORT OF THE 2ND INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-10 MAPPING 1997, Cytogenetics and cell genetics, 78(3-4), 1997, pp. 184-194
RPGR MISSENSE MUTATION IN CONGENITAL STATIONARY NIGHT BLINDNESS (CSNB)
Authors: APFELSTEDTSYLLA E MEITINGER T MEINDL A HERMANN K BRANDAU O WISSINGER B ENGEL C ZRENNER E
Citation: E. Apfelstedtsylla et al., RPGR MISSENSE MUTATION IN CONGENITAL STATIONARY NIGHT BLINDNESS (CSNB), Investigative ophthalmology & visual science, 38(4), 1997, pp. 3702-3702
MITOBASE - A MITOCHONDRIAL GENE DATABASE
Authors: SCHARFE C ZACCARIA P LILL R HOFMANN S GERBITZ KD MEWES HW MEITINGER T
Citation: C. Scharfe et al., MITOBASE - A MITOCHONDRIAL GENE DATABASE, American journal of human genetics, 61(4), 1997, pp. 1410-1410
SPERMINE DEFICIENCY IN GY MICE CAUSED BY DELETION OF THE SPERMINE SYNTHASE GENE
Authors: LORENZ B FRANCIS F GEMPEL K BODDRICH A JOSTEN M SCHMAHL W GERBITZ KD LEHRACH H MEITINGER T STROM TM
Citation: B. Lorenz et al., SPERMINE DEFICIENCY IN GY MICE CAUSED BY DELETION OF THE SPERMINE SYNTHASE GENE, American journal of human genetics, 61(4), 1997, pp. 1982-1982
A COMMON REGION OF 10P DELETED IN DIGEORGE AND VELOCARDIOFACIAL SYNDROMES
Authors: DAW SCM TAYLOR C KRAMAN M CALL K MAO JI SCHUFFENHAUER S MEITINGER T LIPSON T GOODSHIP J SCAMBLER P
Citation: Scm. Daw et al., A COMMON REGION OF 10P DELETED IN DIGEORGE AND VELOCARDIOFACIAL SYNDROMES, Nature genetics, 13(4), 1996, pp. 458-460
Risultati: 1-25 | 26-50 | 51-64