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Results: 1-25 | 26-28
Results: 1-25/28
INSURANCE AND PREDICTIVE TESTING IN HEREDITARY CANCER
Authors: KAARIAINEN H AKTANCOLLAN K
Citation: H. Kaariainen et K. Aktancollan, INSURANCE AND PREDICTIVE TESTING IN HEREDITARY CANCER, European journal of human genetics, 6, 1998, pp. 1040-1040
3 PATIENTS WITH THE OSTEOCHONDRODYSPLASIA AND HYPERTRICHOSIS SYNDROME- CANTU-SYNDROME
Authors: ROSSER EM KAARIAINEN H HURST JA BARAITSER M HALL CM CLAYTON P LEONARD JV
Citation: Em. Rosser et al., 3 PATIENTS WITH THE OSTEOCHONDRODYSPLASIA AND HYPERTRICHOSIS SYNDROME- CANTU-SYNDROME, Clinical dysmorphology, 7(2), 1998, pp. 79-85
INCIDENCE OF HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER AND THE FEASIBILITY OF MOLECULAR SCREENING FOR THE DISEASE
Authors: AALTONEN LA SALOVAARA R KRISTO P CANZIAN F HEMMINKI A PELTOMAKI P CHADWICK RB KAARIAINEN H ESKELINEN M JARVINEN H MECKLIN JP DELACHAPELLE A PERCESEPE A AHTOLA H HARKONEN N JULKUNEN R KANGAS E OJALA S TULIKOURA J VALKAMO E
Citation: La. Aaltonen et al., INCIDENCE OF HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER AND THE FEASIBILITY OF MOLECULAR SCREENING FOR THE DISEASE, The New England journal of medicine, 338(21), 1998, pp. 1481-1487
MOLECULAR STUDIES IN FINNISH PATIENTS WITH FAMILIAL JUVENILE NEPHRONOPHTHISIS EXCLUDE A FOUNDER EFFECT AND SUPPORT A COMMON MUTATION CAUSING MECHANISM
Authors: ALAMELLO S SANKILA EM KOSKIMIES O DELACHAPELLE A KAARIAINEN H
Citation: S. Alamello et al., MOLECULAR STUDIES IN FINNISH PATIENTS WITH FAMILIAL JUVENILE NEPHRONOPHTHISIS EXCLUDE A FOUNDER EFFECT AND SUPPORT A COMMON MUTATION CAUSING MECHANISM, Journal of Medical Genetics, 35(4), 1998, pp. 279-283
GENETIC-CONTROL OF SERUM IGE LEVELS AND ASTHMA - LINKAGE AND LINKAGE DISEQUILIBRIUM STUDIES IN AN ISOLATED POPULATION
Authors: LAITINEN T KAUPPI P IGNATIUS J RUOTSALAINEN T DALY MJ KAARIAINEN H KRUGLYAK L LAITINEN H DELACHAPELLE A LANDER ES LAITINEN LA KERE J
Citation: T. Laitinen et al., GENETIC-CONTROL OF SERUM IGE LEVELS AND ASTHMA - LINKAGE AND LINKAGE DISEQUILIBRIUM STUDIES IN AN ISOLATED POPULATION, Human molecular genetics, 6(12), 1997, pp. 2069-2076
BREAST-CANCER RISK-ESTIMATION IN FAMILIES WITH HISTORY OF BREAST-CANCER
Authors: MUHONEN T EEROLA H VEHMANEN P NEVANLINNA H AKTAN K BLOMQVIST C KAARIAINEN H PYRHONEN S
Citation: T. Muhonen et al., BREAST-CANCER RISK-ESTIMATION IN FAMILIES WITH HISTORY OF BREAST-CANCER, British Journal of Cancer, 76(9), 1997, pp. 1228-1231
MOLECULAR STUDIES IN FINNISH PATIENTS WITH FAMILIAL JUVENILE NEPHRONOPHTHISIS EXCLUDE A FOUNDER EFFECT AND SUPPORT A COMMON MUTATION CAUSING MECHANISM
Authors: ALAMELLO S SANKILA EM KOSKIMIES O DELACHAPELLE A KAARIAINEN H
Citation: S. Alamello et al., MOLECULAR STUDIES IN FINNISH PATIENTS WITH FAMILIAL JUVENILE NEPHRONOPHTHISIS EXCLUDE A FOUNDER EFFECT AND SUPPORT A COMMON MUTATION CAUSING MECHANISM, American journal of human genetics, 61(4), 1997, pp. 1543-1543
REFINED MAPPING OF THE USHER-SYNDROME TYPE-III LOCUS ON CHROMOSOME-3,EXCLUSION OF CANDIDATE GENES, AND IDENTIFICATION OF THE PUTATIVE MOUSE HOMOLOGOUS REGION
Authors: JOENSUU T BLANCO G PAKARINEN L SISTONEN P KAARIAINEN H BROWN S DELACHAPELLE A SANKILA EM
Citation: T. Joensuu et al., REFINED MAPPING OF THE USHER-SYNDROME TYPE-III LOCUS ON CHROMOSOME-3,EXCLUSION OF CANDIDATE GENES, AND IDENTIFICATION OF THE PUTATIVE MOUSE HOMOLOGOUS REGION, Genomics, 38(3), 1996, pp. 255-263
AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE IN 115 CHILDREN - CLINICAL PRESENTATION, COURSE AND INFLUENCE OF GENDER
Authors: ZERRES K RUDNIKSCHONEBORN S DEGET F HOLTKAMP U BRODEHL J GEISERT J SCHARER K RUDER H RASCHER W DIPPEL J HUFSCHMIDT C MULLERWIEFEL DE KONRAD M KAARIAINEN H MISSELWITZ J VOLPEL S MICHALK D EIFE R KUWERTZBROCKING E VONMUHLENDAHL KE
Citation: K. Zerres et al., AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE IN 115 CHILDREN - CLINICAL PRESENTATION, COURSE AND INFLUENCE OF GENDER, Acta paediatrica, 85(4), 1996, pp. 437-445
ALPORTS-SYNDROME IN 78 PATIENTS - EPIDEMIOLOGIC AND CLINICAL-STUDY
Authors: PAJARI H KAARIAINEN H MUHONEN T KOSKIMIES O
Citation: H. Pajari et al., ALPORTS-SYNDROME IN 78 PATIENTS - EPIDEMIOLOGIC AND CLINICAL-STUDY, Acta paediatrica, 85(11), 1996, pp. 1300-1306
MOLECULAR MAPPING OF THE PUTATIVE GONADOBLASTOMA LOCUS ON THE Y-CHROMOSOME
Authors: SALO P KAARIAINEN H PETROVIC V PELTOMAKI P PAGE DC DELACHAPELLE A
Citation: P. Salo et al., MOLECULAR MAPPING OF THE PUTATIVE GONADOBLASTOMA LOCUS ON THE Y-CHROMOSOME, Genes, chromosomes & cancer, 14(3), 1995, pp. 210-214
FURTHER MUTATIONS IN BRAIN-4 (POU3F4) CLARIFY THE PHENOTYPE IN THE X-LINKED DEAFNESS, DFN3
Authors: BITNERGLINDZICZ M TURNPENNY P HOGLUND P KAARIAINEN H
Citation: M. Bitnerglindzicz et al., FURTHER MUTATIONS IN BRAIN-4 (POU3F4) CLARIFY THE PHENOTYPE IN THE X-LINKED DEAFNESS, DFN3, Human molecular genetics, 4(8), 1995, pp. 1467-1469
ASSIGNMENT OF AN USHER SYNDROME TYPE-III (USH3) GENE TO CHROMOSOME 3Q
Authors: SANKILA EM PAKARINEN L KAARIAINEN H AITTOMAKI K KARJALAINEN S SISTONEN P DELACHAPELLE A
Citation: Em. Sankila et al., ASSIGNMENT OF AN USHER SYNDROME TYPE-III (USH3) GENE TO CHROMOSOME 3Q, Human molecular genetics, 4(1), 1995, pp. 93-98
DELETION MAPPING OF STATURE DETERMINANTS ON THE LONG ARM OF THE Y-CHROMOSOME
Authors: SALO P KAARIAINEN H PAGE DC DELACHAPELLE A
Citation: P. Salo et al., DELETION MAPPING OF STATURE DETERMINANTS ON THE LONG ARM OF THE Y-CHROMOSOME, Human genetics, 95(3), 1995, pp. 283-286
CLINICAL-FEATURES OF 9 MALES WITH MOLECULARLY DEFINED DELETIONS OF THE Y-CHROMOSOME LONG ARM
Authors: SALO P IGNATIUS J SIMOLA KOJ TAHVANAINEN E KAARIAINEN H
Citation: P. Salo et al., CLINICAL-FEATURES OF 9 MALES WITH MOLECULARLY DEFINED DELETIONS OF THE Y-CHROMOSOME LONG ARM, Journal of Medical Genetics, 32(9), 1995, pp. 711-715
IDENTIFICATION OF COL2A1 GENE-MUTATIONS IN PATIENTS WITH CHONDRODYSPLASIAS AND FAMILIAL OSTEOARTHRITIS
Authors: RITVANIEMI P KORKKO J BONAVENTURE J VIKKULA M HYLAND J PAASSILTA P KAITILA I KAARIAINEN H SOKOLOV BP HAKALA M MANNISMAKI P MEERSON EM KLEMOLA T WILLIAMS C PELTONEN L KIVIRIKKO KI PROCKOP DJ ALAKOKKO L
Citation: P. Ritvaniemi et al., IDENTIFICATION OF COL2A1 GENE-MUTATIONS IN PATIENTS WITH CHONDRODYSPLASIAS AND FAMILIAL OSTEOARTHRITIS, Arthritis and rheumatism, 38(7), 1995, pp. 999-1004
REFINED MAPPING OF THE USHER SYNDROME TYPE-III (USH3) LOCUS
Authors: JOENSUU TH PAKARINEN L KAARIAINEN H DELACHAPELLE A SANKILA EM
Citation: Th. Joensuu et al., REFINED MAPPING OF THE USHER SYNDROME TYPE-III (USH3) LOCUS, American journal of human genetics, 57(4), 1995, pp. 1115-1115
OVERLAPPING SUBMICROSCOPIC DELETIONS IN XQ28 IN 2 UNRELATED BOYS WITHDEVELOPMENTAL DISORDERS - IDENTIFICATION OF A GENE NEAR FRAXE
Authors: GEDEON AK KEINANEN M ADES LC KAARIAINEN H GECZ J BAKER E SUTHERLAND GR MULLEY JC
Citation: Ak. Gedeon et al., OVERLAPPING SUBMICROSCOPIC DELETIONS IN XQ28 IN 2 UNRELATED BOYS WITHDEVELOPMENTAL DISORDERS - IDENTIFICATION OF A GENE NEAR FRAXE, American journal of human genetics, 56(4), 1995, pp. 907-914
MAPPING OF THE GENE FOR AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE(ARPKD) TO CHROMOSOME 6P21-CEN
Authors: ZERRES K MUCHER G BACHNER L DESCHENNES G EGGERMANN T KAARIAINEN H KNAPP M LENNERT T MISSELWITZ J VONMUHLENDAHL KE NEUMANN HPH PIRSON Y RUDNIKSCHONEBORN S STEINBICKER V WIRTH B SCHARER K
Citation: K. Zerres et al., MAPPING OF THE GENE FOR AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE(ARPKD) TO CHROMOSOME 6P21-CEN, Nature genetics, 7(3), 1994, pp. 429-432
HEMOPHILIA-A - EXPERIENCES AND ATTITUDES OF MOTHERS, SISTERS, AND DAUGHTERS
Authors: RANTA S LEHESJOKI AE PEIPPO M KAARIAINEN H
Citation: S. Ranta et al., HEMOPHILIA-A - EXPERIENCES AND ATTITUDES OF MOTHERS, SISTERS, AND DAUGHTERS, Pediatric hematology and oncology, 11(4), 1994, pp. 387-397
POINT MUTATIONS AFFECTING THE TYROSINE KINASE DOMAIN OF THE RET PROTOONCOGENE IN HIRSCHPRUNGS DISEASE
Authors: ROMEO G RONCHETTO P LUO Y BARONE V SERI M CECCHERINI I PASINI B BOCCIARDI R LERONE M KAARIAINEN H MARTUCCIELLO G
Citation: G. Romeo et al., POINT MUTATIONS AFFECTING THE TYROSINE KINASE DOMAIN OF THE RET PROTOONCOGENE IN HIRSCHPRUNGS DISEASE, Nature, 367(6461), 1994, pp. 377-378
FAMILIAL PERICENTRIC-INVERSION INV(8)(P23Q11)
Authors: BOYD H KASTE J HOVI E RITANENMOHAMMED UM KAARIAINEN H DELACHAPELLE A LEHESJOKI AE
Citation: H. Boyd et al., FAMILIAL PERICENTRIC-INVERSION INV(8)(P23Q11), Journal of Medical Genetics, 31(3), 1994, pp. 201-205
A GENE FOR HIRSCHSPRUNG DISEASE MAPS TO THE PROXIMAL LONG ARM OF CHROMOSOME-10
Authors: LYONNET S BOLINO A PELET A ABEL L NIHOULFEKETE C BRIARD ML MOKSIU V KAARIAINEN H MARTUCCIELLO G LERONE M PULITI A LUO Y WEISSENBACH J DEVOTO M MUNNICH A ROMEO G
Citation: S. Lyonnet et al., A GENE FOR HIRSCHSPRUNG DISEASE MAPS TO THE PROXIMAL LONG ARM OF CHROMOSOME-10, Nature genetics, 4(4), 1993, pp. 346-350
CLOSE LINKAGE WITH THE RET PROTOONCOGENE AND BOUNDARIES OF DELETION MUTATIONS IN AUTOSOMAL-DOMINANT HIRSCHSPRUNG DISEASE
Authors: LUO Y CECCHERINI I PASINI B MATERA I BICOCCHI MP BARONE V BOCCIARDI R KAARIAINEN H WEBER D DEVOTO M ROMEO G
Citation: Y. Luo et al., CLOSE LINKAGE WITH THE RET PROTOONCOGENE AND BOUNDARIES OF DELETION MUTATIONS IN AUTOSOMAL-DOMINANT HIRSCHSPRUNG DISEASE, Human molecular genetics, 2(11), 1993, pp. 1803-1808
TIBIAL MUSCULAR-DYSTROPHY - LATE ADULT-ONSET DISTAL MYOPATHY IN 66 FINNISH PATIENTS
Authors: UDD B PARTANEN J HALONEN P FALCK B HAKAMIES L HEIKKILA H INGO S KALIMO H KAARIAINEN H LAULUMAA V PALJARVI L RAPOLA J REUNANEN M SONNINEN V SOMER H
Citation: B. Udd et al., TIBIAL MUSCULAR-DYSTROPHY - LATE ADULT-ONSET DISTAL MYOPATHY IN 66 FINNISH PATIENTS, Archives of neurology, 50(6), 1993, pp. 604-608
Risultati: 1-25 | 26-28