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Results: 1-25 | 26-43
Results: 1-25/43
INCREASED CANCER INCIDENCE IN CARTILAGE-HAIR HYPOPLASIA
Authors: MAKITIE O PUKKALA E TEPPO L KAITILA I
Citation: O. Makitie et al., INCREASED CANCER INCIDENCE IN CARTILAGE-HAIR HYPOPLASIA, European journal of human genetics, 6, 1998, pp. 1139-1139
A NOVEL SPLICE-SITE MUTATION OF THE EXT2 GENE IN A FINNISH HEREDITARYMULTIPLE EXOSTOSES FAMILY
Authors: WOLF M HEMMINKI A KIVIOJA A SISTONEN P KAITILA I ERVASTI H KINNUNEN J KARAHARJU E KNUUTILA S
Citation: M. Wolf et al., A NOVEL SPLICE-SITE MUTATION OF THE EXT2 GENE IN A FINNISH HEREDITARYMULTIPLE EXOSTOSES FAMILY, European journal of human genetics, 6, 1998, pp. 4265-4265
PROTEOGLYCAN SULFATION IN CARTILAGE AND CELL-CULTURES FROM PATIENTS WITH SULFATE TRANSPORTER CHONDRODYSPLASIAS - RELATIONSHIP TO CLINICAL SEVERITY AND INDICATIONS ON THE ROLE OF INTRACELLULAR SULFATE PRODUCTION
Authors: ROSSI A KAITILA I WILCOX WR RIMOIN DL STEINMANN B CETTA G SUPERTIFURGA A
Citation: A. Rossi et al., PROTEOGLYCAN SULFATION IN CARTILAGE AND CELL-CULTURES FROM PATIENTS WITH SULFATE TRANSPORTER CHONDRODYSPLASIAS - RELATIONSHIP TO CLINICAL SEVERITY AND INDICATIONS ON THE ROLE OF INTRACELLULAR SULFATE PRODUCTION, Matrix biology, 17(5), 1998, pp. 361-369
HEALTH-RELATED QUALITY-OF-LIFE OF PATIENTS WITH GENETIC SKELETAL DYSPLASIAS
Authors: APAJASALO M SINTONEN H RAUTONEN J KAITILA I
Citation: M. Apajasalo et al., HEALTH-RELATED QUALITY-OF-LIFE OF PATIENTS WITH GENETIC SKELETAL DYSPLASIAS, European journal of pediatrics, 157(2), 1998, pp. 114-121
SUSCEPTIBILITY TO INFECTIONS AND IN-VITRO IMMUNE FUNCTIONS IN CARTILAGE-HAIR HYPOPLASIA
Authors: MAKITIE O KAITILA I SAVILAHTI E
Citation: O. Makitie et al., SUSCEPTIBILITY TO INFECTIONS AND IN-VITRO IMMUNE FUNCTIONS IN CARTILAGE-HAIR HYPOPLASIA, European journal of pediatrics, 157(10), 1998, pp. 816-820
DEVELOPMENT OF THE HIP IN DIASTROPHIC DYSPLASIA
Authors: VAARA P PELTONEN J POUSSA M MERIKANTO J NURMINEN M KAITILA I RYOPPY S
Citation: P. Vaara et al., DEVELOPMENT OF THE HIP IN DIASTROPHIC DYSPLASIA, Journal of bone and joint surgery. British volume, 80B(2), 1998, pp. 315-320
CORRELATION BETWEEN SPEECH OUTCOME AND CEPHALOMETRIC DIMENSIONS IN PATIENTS WITH DIASTROPHIC DYSPLASIA
Authors: KARLSTEDT E ISOTALO E HAAPANEN ML KALLAND M PIRINEN S KAITILA I
Citation: E. Karlstedt et al., CORRELATION BETWEEN SPEECH OUTCOME AND CEPHALOMETRIC DIMENSIONS IN PATIENTS WITH DIASTROPHIC DYSPLASIA, Journal of craniofacial genetics and developmental biology, 18(1), 1998, pp. 38-43
INTERNATIONAL NOMENCLATURE AND CLASSIFICATION OF THE OSTEOCHONDRODYSPLASIAS (1997)
Authors: RIMOIN DL FRANCOMANO CA GIEDION A HALL C KAITILA I COHN D GORLIN R HALL J HORTON W KRAKOW D LEMERRER M LACHMAN R MUNDLOS S POZNANSKI AK SILLENCE D SUPERTIFURGA A WILCOX W
Citation: Dl. Rimoin et al., INTERNATIONAL NOMENCLATURE AND CLASSIFICATION OF THE OSTEOCHONDRODYSPLASIAS (1997), American journal of medical genetics, 79(5), 1998, pp. 376-382
AUTOIMMUNE ENTEROPATHY IN SCHIMKE IMMUNOOSSEOUS DYSPLASIA
Authors: KAITILA I SAVILAHTI E ORMALA T
Citation: I. Kaitila et al., AUTOIMMUNE ENTEROPATHY IN SCHIMKE IMMUNOOSSEOUS DYSPLASIA, American journal of medical genetics, 77(5), 1998, pp. 427-430
THE GENE DEFECTIVE IN ANHIDROTIC ECTODERMAL DYSPLASIA IS EXPRESSED INTHE DEVELOPING EPITHELIUM, NEUROECTODERM, THYMUS, AND BONE
Authors: MONTONEN O EZER S SAARIALHOKERE UK HERVA R KARJALAINENLINDSBERG ML KAITILA I SCHLESSINGER D SRIVASTAVA AK THESLEFF I KERE J
Citation: O. Montonen et al., THE GENE DEFECTIVE IN ANHIDROTIC ECTODERMAL DYSPLASIA IS EXPRESSED INTHE DEVELOPING EPITHELIUM, NEUROECTODERM, THYMUS, AND BONE, The Journal of histochemistry and cytochemistry, 46(3), 1998, pp. 281-289
MUTATIONS IN FIBROBLAST-GROWTH-FACTOR RECEPTOR-3 IN SPORADIC CASES OFACHONDROPLASIA OCCUR EXCLUSIVELY ON THE PATERNALLY DERIVED CHROMOSOME
Authors: WILKIN DJ SZABO JK CAMERON R HENDERSON S BELLUS GA MACK ML KAITILA I LOUGHLIN J MUNNICH A SYKES B BONAVENTURE J FRANCOMANO CA
Citation: Dj. Wilkin et al., MUTATIONS IN FIBROBLAST-GROWTH-FACTOR RECEPTOR-3 IN SPORADIC CASES OFACHONDROPLASIA OCCUR EXCLUSIVELY ON THE PATERNALLY DERIVED CHROMOSOME, American journal of human genetics, 63(3), 1998, pp. 711-716
UNIPARENTAL DISOMY IN CARTILAGE-HAIR HYPOPLASIA
Authors: SULISALO T MAKITIE O SISTONEN P RIDANPAA M ELRIFAI W RUUSKANAEN O DELACHAPELLE A KAITILA I
Citation: T. Sulisalo et al., UNIPARENTAL DISOMY IN CARTILAGE-HAIR HYPOPLASIA, European journal of human genetics, 5(1), 1997, pp. 35-42
HEALTH-RELATED QUALITY-OF-LIFE OF PATIENTS WITH GENETIC SKELETAL DYSPLASIAS
Authors: APAJASALO M RAUTONEN J KAITILA I SINTONEN H
Citation: M. Apajasalo et al., HEALTH-RELATED QUALITY-OF-LIFE OF PATIENTS WITH GENETIC SKELETAL DYSPLASIAS, Quality of life research, 6(5), 1997, pp. 4-4
TRANSVERSE FACIAL MORPHOLOGY IN PATIENTS WITH DIASTROPHIC DYSPLASIA
Authors: KARLSTEDT E KOVERO O KAITILA I PIRINEN S
Citation: E. Karlstedt et al., TRANSVERSE FACIAL MORPHOLOGY IN PATIENTS WITH DIASTROPHIC DYSPLASIA, Journal of craniofacial genetics and developmental biology, 17(4), 1997, pp. 178-183
CRANIOFACIAL STRUCTURE IN DIASTROPHIC DYSPLASIA - A CEPHALOMETRIC STUDY
Authors: KARLSTEDT E KAITILA I PIRINEN S
Citation: E. Karlstedt et al., CRANIOFACIAL STRUCTURE IN DIASTROPHIC DYSPLASIA - A CEPHALOMETRIC STUDY, American journal of medical genetics, 72(3), 1997, pp. 266-274
GROWTH IN DIASTROPHIC DYSPLASIA
Authors: MAKITIE O KAITILA I
Citation: O. Makitie et I. Kaitila, GROWTH IN DIASTROPHIC DYSPLASIA, The Journal of pediatrics, 130(4), 1997, pp. 641-646
THE GENE DEFECTIVE IN ANHIDROTIC ECTODERMAL DYSPLASIA (EDA) IS EXPRESSED IN THE DEVELOPING EPITHELIUM, NEUROECTODERM AND BONE
Authors: MONTONEN O EZER S HERVA R KARJALAINENLINDSBERG ML KAITILA I SCHLESSINGER D SRIVASTAVA A THESLEFF I KERE J SAARIALHOKERE U
Citation: O. Montonen et al., THE GENE DEFECTIVE IN ANHIDROTIC ECTODERMAL DYSPLASIA (EDA) IS EXPRESSED IN THE DEVELOPING EPITHELIUM, NEUROECTODERM AND BONE, Journal of investigative dermatology, 108(4), 1997, pp. 360-360
PHYSICAL MAPPING OF 9P13 USING BACS AND RADIATION HYBRIDS
Authors: RIDANPAA M KIVIPENSAS P PARKKINEN T LAING N KAITILA I
Citation: M. Ridanpaa et al., PHYSICAL MAPPING OF 9P13 USING BACS AND RADIATION HYBRIDS, Annals of Human Genetics, 61, 1997, pp. 221-221
BAC P1 CONTIG AND RADIATION HYBRID MAPPING IN 9P13/
Authors: RIDANPAA M VAKKILAINEN T ALIVARPULA N KAITILA I
Citation: M. Ridanpaa et al., BAC P1 CONTIG AND RADIATION HYBRID MAPPING IN 9P13/, American journal of human genetics, 61(4), 1997, pp. 1407-1407
THE ACHONDROPLASIA MUTATION OCCURS EXCLUSIVELY ON THE PATERNALLY DERIVED FIBROBLAST GROWTH-FACTOR RECEPTOR-3 (FGFR3) ALLELE
Authors: SZABO JK WILKIN DJ CAMERON R HENDERSON S BELLUS G KAITILA I LOUGHLIN J MUNNICH A SYKES B BONAVENTURE J FRANCOMANO CA
Citation: Jk. Szabo et al., THE ACHONDROPLASIA MUTATION OCCURS EXCLUSIVELY ON THE PATERNALLY DERIVED FIBROBLAST GROWTH-FACTOR RECEPTOR-3 (FGFR3) ALLELE, American journal of human genetics, 61(4), 1997, pp. 2040-2040
QUALITY-OF-LIFE IN PRE-ADOLESCENCE - A 17-DIMENSIONAL HEALTH-RELATED MEASURE (17D)
Authors: APAJASALO M RAUTONEN J HOLMBERG C SINKKONEN J AALBERG V PIHKO H SIIMES MA KAITILA I MAKELA A ERKKILA K SINTONEN H
Citation: M. Apajasalo et al., QUALITY-OF-LIFE IN PRE-ADOLESCENCE - A 17-DIMENSIONAL HEALTH-RELATED MEASURE (17D), Quality of life research, 5(6), 1996, pp. 532-538
QUALITY-OF-LIFE IN EARLY ADOLESCENCE - A 16-DIMENSIONAL HEALTH-RELATED MEASURE (16D)
Authors: APAJASALO M SINTONEN H HOLMBERG C SINKKONEN J AALBERG V PIHKO H SIIMES MA KAITILA I MAKELA A RANTAKARI K ANTTILA R RAUTONEN J
Citation: M. Apajasalo et al., QUALITY-OF-LIFE IN EARLY ADOLESCENCE - A 16-DIMENSIONAL HEALTH-RELATED MEASURE (16D), Quality of life research, 5(2), 1996, pp. 205-211
PHENOTYPIC FEATURES OF DENTITION IN DIASTROPHIC DYSPLASIA
Authors: KARLSTEDT E KAITILA I PIRINEN S
Citation: E. Karlstedt et al., PHENOTYPIC FEATURES OF DENTITION IN DIASTROPHIC DYSPLASIA, Journal of craniofacial genetics and developmental biology, 16(3), 1996, pp. 164-173
PHENOTYPIC EXPRESSIONS OF A GLY154ARG MUTATION IN TYPE-II COLLAGEN IN2 UNRELATED PATIENTS WITH SPONDYLOEPIMETAPHYSEAL DYSPLASIA (SEMD)
Authors: KAITILA I KORKKO J MARTTINEN E ALAKOKKO L
Citation: I. Kaitila et al., PHENOTYPIC EXPRESSIONS OF A GLY154ARG MUTATION IN TYPE-II COLLAGEN IN2 UNRELATED PATIENTS WITH SPONDYLOEPIMETAPHYSEAL DYSPLASIA (SEMD), American journal of medical genetics, 63(1), 1996, pp. 111-122
A RECURRENT MUTATION IN THE TYROSINE KINASE DOMAIN OF FIBROBLAST GROWTH-FACTOR RECEPTOR-3 CAUSES HYPOCHONDROPLASIA
Authors: BELLUS GA MCINTOSH I SMITH EA AYLSWORTH AS KAITILA I HORTON WA GREENHAW GA HECHT JT FRANCOMANO CA
Citation: Ga. Bellus et al., A RECURRENT MUTATION IN THE TYROSINE KINASE DOMAIN OF FIBROBLAST GROWTH-FACTOR RECEPTOR-3 CAUSES HYPOCHONDROPLASIA, Nature genetics, 10(3), 1995, pp. 357-359
Risultati: 1-25 | 26-43