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Results: 1-25/31
Authors:
DORK T
SCHNIEDERS F
JAKUBICZKA S
WIEACKER P
SCHROEDERKURTH T
SCHMIDTKE J
Citation: T. Dork et al., A NEW MISSENSE SUBSTITUTION AT A MUTATIONAL HOT-SPOT OF THE ANDROGEN RECEPTOR IN SIBLINGS WITH COMPLETE ANDROGEN INSENSITIVITY SYNDROME, Human mutation, 11(4), 1998, pp. 337-339
Authors:
DORK T
STUHRMANN M
MILLER K
SCHMIDTKE J
Citation: T. Dork et al., INDEPENDENT OBSERVATION OF SRY MUTATION I90M IN A PATIENT WITH COMPLETE GONADAL-DYSGENESIS, Human mutation, 11(1), 1998, pp. 90-91
Authors:
DORK T
STUHRMANN M
MILLER K
SCHMIDTKE J
Citation: T. Dork et al., INDEPENDENT OBSERVATION OF SRY MUTATION I90M IN A PATIENT WITH COMPLETE GONADAL-DYSGENESIS, Human mutation, 11(1), 1998, pp. 90-91
Authors:
BENDIX R
STOCKMANN C
STUHRMANN M
OPPITZ D
SCHMIDTKE J
KARSTENS JH
DORK T
Citation: R. Bendix et al., CHARACTERIZATION OF NOVEL ATM GENE-MUTATIONS IN ATAXIA-TELANGIECTASIAFAMILIES, European journal of human genetics, 6, 1998, pp. 4028-4028
Authors:
SKAWRAN B
BREMER M
STUHRMANN M
VOLKMANN C
SCHMIDTKE J
KARSTENS JH
DORK T
Citation: B. Skawran et al., MUTATIONS OF THE BRCA1 AND BRCA2 GENES IN GERMAN BREAST-CANCER PATIENTS, European journal of human genetics, 6, 1998, pp. 4029-4029
Authors:
DORK T
STUHRMANN M
Citation: T. Dork et M. Stuhrmann, POLYMORPHISMS OF THE HUMAN BETA-DEFENSIN-1 GENE, Molecular and cellular probes, 12(3), 1998, pp. 171-173
Authors:
ELHARITH EHA
STUHRMANN M
DORK T
ESKANDARANI HA
SCHMIDTKE J
Citation: Eha. Elharith et al., PCR-BASED ANALYSIS OF CYSTIC-FIBROSIS MUTATIONS SPECIFIC FOR SAUDI PATIENTS, Saudi medical journal, 19(2), 1998, pp. 148-152
Authors:
MEKUS F
BALLMANN M
BRONSVELD I
DORK T
BIJMAN J
TUMMLER B
VEEZE HJ
Citation: F. Mekus et al., CYSTIC-FIBROSIS-LIKE DISEASE UNRELATED TO THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR, Human genetics, 102(5), 1998, pp. 582-586
Authors:
SCHMIDT H
STUHRMANN M
DORK T
HAAS R
TIETGE U
EBHARD M
SCHMIDTKE J
MANNS M
Citation: H. Schmidt et al., CHARACTERIZATION OF NOVEL MUTATIONS IN FAMILIAL HYPERCHOLESTEROLEMIA, Gastroenterology, 114(4), 1998, pp. 570-570
Authors:
DORK T
ELHARITH EHA
STUHRMANN M
MACEK M
EGAN M
CUTTING GR
TZETIS M
KANAVAKIS E
CARLES S
CLAUSTRES M
PADOA C
RAMSAY M
SCHMIDTKE J
Citation: T. Dork et al., EVIDENCE FOR A COMMON ETHNIC-ORIGIN OF CYSTIC-FIBROSIS MUTATION 3120-]A IN DIVERSE POPULATIONS(1G), American journal of human genetics, 63(2), 1998, pp. 656-662
Authors:
DORK T
WESTERMANN S
DITTRICH O
TWARDOWSKI M
KARSTENS JH
SCHMIDTKE J
STUHRMANN M
Citation: T. Dork et al., FREQUENT POLYMORPHISM OF THE GENE MUTATED IN ATAXIA-TELANGIECTASIA, Molecular and cellular probes, 11(1), 1997, pp. 71-73
Authors:
DORK T
DWORNICZAK B
AULEHLASCHOLZ C
WIECZOREK D
BOHM I
MAYEROVA A
SEYDEWITZ HH
NIESCHLAG E
MESCHEDE D
HORST J
PANDER HJ
SPERLING H
RATJEN F
PASSARGE E
SCHMIDTKE J
STUHRMANN M
Citation: T. Dork et al., DISTINCT SPECTRUM OF CFTR GENE-MUTATIONS IN CONGENITAL ABSENCE OF VAS-DEFERENS, Human genetics, 100(3-4), 1997, pp. 365-377
Authors:
ELHARITH EA
DORK T
STUHRMANN M
ABUSRAIR H
ALSHAHRI A
KELLER KM
LENTZE MJ
SCHMIDTKE J
Citation: Ea. Elharith et al., NOVEL AND CHARACTERISTIC CFTR MUTATIONS IN SAUDI ARAB CHILDREN WITH SEVERE CYSTIC-FIBROSIS, Journal of Medical Genetics, 34(12), 1997, pp. 996-999
Authors:
STUHRMANN M
DORK T
FRUHWIRTH M
GOLLA A
SKAWRAN B
ANTONIN W
EBHARDT M
LOOS A
ELLEMUNTER H
SCHMIDTKE J
Citation: M. Stuhrmann et al., DETECTION OF 100-PERCENT OF THE CFTR MUTATIONS IN 63 CF FAMILIES FROMTYROL, Clinical genetics, 52(4), 1997, pp. 240-246
Authors:
MORRAL N
DORK T
LLEVADOT R
DZIADEK V
MERCIER B
FEREC C
COSTES BB
GIRODON E
ZIELENSKI J
TSUI LC
TUMMLER B
ESTIVILL X
Citation: N. Morral et al., HAPLOTYPE ANALYSIS OF 94 CYSTIC-FIBROSIS MUTATIONS WITH 7 POLYMORPHICCFTR DNA MARKERS (VOL 8, PG 149, 1996), Human mutation, 8(3), 1996, pp. 295-296
Authors:
MORRAL N
DORK T
LLEVADOT R
DZIADEK V
MERCIER B
FEREC C
COSTES B
GIRODON E
ZIELENSKI J
TSUI LC
TUMMLER B
ESTIVILL X
Citation: N. Morral et al., HAPLOTYPE ANALYSIS OF 94 CYSTIC-FIBROSIS MUTATIONS WITH 7 POLYMORPHICCFTR DNA MARKERS, Human mutation, 8(2), 1996, pp. 149-159
Authors:
SCHNIEDERS F
DORK T
ARNEMANN J
VOGEL T
WERNER M
SCHMIDTKE J
Citation: F. Schnieders et al., TESTIS-SPECIFIC PROTEIN, Y-ENCODED (TSPY) EXPRESSION IN TESTICULAR TISSUES, Human molecular genetics, 5(11), 1996, pp. 1801-1807
Authors:
TUMMLER B
STORRS T
DZIADEK V
DORK T
MEITINGER T
GOLLA A
BERTELEHARMS RM
HARMS HK
SCHRODER E
CLAASS A
RUTJES J
SCHNEPPENHEIM R
BAUER I
BREUEL K
STUHRMANN M
SCHMIDTKE J
LINDNER M
EIGEL A
HORST J
KAISER R
LENTZE MJ
SCHMIDT K
VONDERHARDT H
ESTIVILL X
Citation: B. Tummler et al., GEOGRAPHIC-DISTRIBUTION AND ORIGIN OF CFTR MUTATIONS IN GERMANY, Human genetics, 97(6), 1996, pp. 727-731
Authors:
WILL K
DORK T
STUHRMANN M
VONDERHARDT H
ELLEMUNTER H
TUMMLER B
SCHMIDTKE J
Citation: K. Will et al., TRANSCRIPT ANALYSIS OF CFTR NONSENSE MUTATIONS IN LYMPHOCYTES AND NASAL EPITHELIAL-CELLS FROM CYSTIC-FIBROSIS PATIENTS, Human mutation, 5(3), 1995, pp. 210-220
Authors:
MEKUS F
DORK T
DEUFEL T
MORRAL N
TUMMLER B
Citation: F. Mekus et al., ANALYSIS OF MICROSATELLITES BY DIRECT BLOTTING ELECTROPHORESIS AND CHEMILUMINESCENCE DETECTION, Electrophoresis, 16(10), 1995, pp. 1886-1888
Authors:
DORK T
STUHRMANN M
Citation: T. Dork et M. Stuhrmann, SEVERITY OF DISEASE IN CYSTIC-FIBROSIS, Lancet, 346(8981), 1995, pp. 1036-1037
Authors:
CHILLON M
DORK T
CASALS T
GIMENEZ J
FONKNECHTEN N
WILL K
RAMOS D
NUNES V
ESTIVILL X
Citation: M. Chillon et al., A NOVEL DONOR SPLICE-SITE IN INTRON-11 OF THE CFTR GENE, CREATED BY MUTATION 1811-]G, PRODUCES A NEW EXON - HIGH-FREQUENCY IN SPANISH CYSTIC-FIBROSIS CHROMOSOMES AND ASSOCIATION WITH SEVERE PHENOTYPE(1.6KBA), American journal of human genetics, 56(3), 1995, pp. 623-629
Authors:
DORK T
WILL K
GRADE K
KRAWCZAK M
TUMMLER B
Citation: T. Dork et al., A 32-BP DELETION (2991DEL32) IN THE CYSTIC-FIBROSIS GENE ASSOCIATED WITH CFTR MESSENGER-RNA REDUCTION, Human mutation, 4(1), 1994, pp. 65-70
Authors:
DORK T
MEKUS F
SCHMIDT K
BOSSHAMMER J
FISLAGE R
HEUER T
DZIADEK V
NEUMANN T
KALIN N
WULBRAND U
WULF B
VONDERHARDT H
MAASS G
TUMMLER B
Citation: T. Dork et al., DETECTION OF MORE THAN 50 DIFFERENT CFTR MUTATIONS IN A LARGE GROUP OF GERMAN CYSTIC-FIBROSIS PATIENTS, Human genetics, 94(5), 1994, pp. 533-542
Authors:
DORK T
FISLAGE R
NEUMANN T
WULF B
TUMMLER B
Citation: T. Dork et al., EXON-9 OF THE CFTR GENE - SPLICE-SITE HAPLOTYPES AND CYSTIC-FIBROSIS MUTATIONS, Human genetics, 93(1), 1994, pp. 67-73