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Results: 1-25 | 26-38
Results: 1-25/38
HOMOZYGOSITY MAPPING OF ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, TO HUMAN-CHROMOSOME-9
Authors: VANHAERINGEN A POLINKOVSKY A MUNDLOS S ZABEL B THOMEER RTWM ZONDERLAND HM KANT SG WARMAN ML
Citation: A. Vanhaeringen et al., HOMOZYGOSITY MAPPING OF ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, TO HUMAN-CHROMOSOME-9, European journal of human genetics, 6, 1998, pp. 206-206
CHARACTERIZATION OF A HUMAN HOMOLOG OF THE SACCHAROMYCES-CEREVISIAE TRANSCRIPTION FACTOR SPT3 (SUPT3H)
Authors: YU JM MADISON JM MUNDLOS S WINSTON F OLSEN BR
Citation: Jm. Yu et al., CHARACTERIZATION OF A HUMAN HOMOLOG OF THE SACCHAROMYCES-CEREVISIAE TRANSCRIPTION FACTOR SPT3 (SUPT3H), Genomics (San Diego, Calif.), 53(1), 1998, pp. 90-96
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
ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE MAPS TO HUMAN-CHROMOSOME-9
Authors: KANT SG POLINKOVSKY A MUNDLOS S ZABEL B THOMEER RTWM ZONDERLAND HM SHIH LY VANHAERINGEN A WARMAN ML
Citation: Sg. Kant et al., ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE MAPS TO HUMAN-CHROMOSOME-9, American journal of human genetics, 63(1), 1998, pp. 155-162
MOUSE CLAVICULAR DEVELOPMENT - ANALYSIS OF WILD-TYPE AND CLEIDOCRANIAL DYSPLASIA MUTANT MICE
Authors: HUANG LF FUKAI N SELBY PB OLSEN BR MUNDLOS S
Citation: Lf. Huang et al., MOUSE CLAVICULAR DEVELOPMENT - ANALYSIS OF WILD-TYPE AND CLEIDOCRANIAL DYSPLASIA MUTANT MICE, Developmental dynamics, 210(1), 1997, pp. 33-40
THE ROLE OF SONIC HEDGEHOG IN VERTEBRATE DEVELOPMENT
Authors: WEED M MUNDLOS S OLSEN BR
Citation: M. Weed et al., THE ROLE OF SONIC HEDGEHOG IN VERTEBRATE DEVELOPMENT, Matrix biology, 16(2), 1997, pp. 53-58
HERITABLE DISEASES OF THE SKELETON .3. MOLECULAR INSIGHTS INTO SKELETAL DEVELOPMENT-MATRIX COMPONENTS AND THEIR HOMEOSTASIS
Authors: MUNDLOS S OLSEN BR
Citation: S. Mundlos et Br. Olsen, HERITABLE DISEASES OF THE SKELETON .3. MOLECULAR INSIGHTS INTO SKELETAL DEVELOPMENT-MATRIX COMPONENTS AND THEIR HOMEOSTASIS, The FASEB journal, 11(4), 1997, pp. 227-233
HERITABLE DISEASES OF THE SKELETON .1. MOLECULAR INSIGHTS INTO SKELETAL DEVELOPMENT-TRANSCRIPTION FACTORS AND SIGNALING PATHWAYS
Authors: MUNDLOS S OLSEN BR
Citation: S. Mundlos et Br. Olsen, HERITABLE DISEASES OF THE SKELETON .1. MOLECULAR INSIGHTS INTO SKELETAL DEVELOPMENT-TRANSCRIPTION FACTORS AND SIGNALING PATHWAYS, The FASEB journal, 11(2), 1997, pp. 125-132
CBFA1, A CANDIDATE GENE FOR CLEIDOCRANIAL DYSPLASIA SYNDROME, IS ESSENTIAL FOR OSTEOBLAST DIFFERENTIATION AND BONE-DEVELOPMENT
Authors: OTTO F THORNELL AP CROMPTON T DENZEL A GILMOUR KC ROSEWELL IR STAMP GWH BEDDINGTON RSP MUNDLOS S OLSEN BR SELBY PB OWEN MJ
Citation: F. Otto et al., CBFA1, A CANDIDATE GENE FOR CLEIDOCRANIAL DYSPLASIA SYNDROME, IS ESSENTIAL FOR OSTEOBLAST DIFFERENTIATION AND BONE-DEVELOPMENT, Cell, 89(5), 1997, pp. 765-771
MUTATIONS INVOLVING THE TRANSCRIPTION FACTOR CBFA1 CAUSE CLEIDOCRANIAL DYSPLASIA
Authors: MUNDLOS S OTTO F MUNDLOS C MULLIKEN JB AYLSWORTH AS ALBRIGHT S LINDHOUT D COLE WG HENN W KNOLL JHM OWEN MJ MERTELSMANN R ZABEL BU OLSEN BR
Citation: S. Mundlos et al., MUTATIONS INVOLVING THE TRANSCRIPTION FACTOR CBFA1 CAUSE CLEIDOCRANIAL DYSPLASIA, Cell, 89(5), 1997, pp. 773-779
POLYALANINE EXPANSION IN SYNPOLYDACTYLY MIGHT RESULT FROM UNEQUAL CROSSING-OVER OF HOXD13 - RESPONSE
Authors: MURAGAKI Y MUNDLOS S UPTON J OLSEN BR
Citation: Y. Muragaki et al., POLYALANINE EXPANSION IN SYNPOLYDACTYLY MIGHT RESULT FROM UNEQUAL CROSSING-OVER OF HOXD13 - RESPONSE, Science, 275(5298), 1997, pp. 409-409
SYNPOLYDACTYLY PHENOTYPES CORRELATE WITH SIZE OF EXPANSIONS IN HOXD13POLYALANINE TRACT
Authors: GOODMAN FR MUNDLOS S MURAGAKI Y DONNAI D GIOVANNUCCIUZIELLI ML LAPI E MAJEWSKI F MCGAUGHRAN J MCKEOWN C REARDON W UPTON J WINTER RM OLSEN BR SCHAMBLER PJ
Citation: Fr. Goodman et al., SYNPOLYDACTYLY PHENOTYPES CORRELATE WITH SIZE OF EXPANSIONS IN HOXD13POLYALANINE TRACT, Proceedings of the National Academy of Sciences of the United Statesof America, 94(14), 1997, pp. 7458-7463
THE SKELETAL DEFECTS OF CLEIDOCRANIAL DYSPLASIA
Authors: HUANG LF MUNDLOS S SELBY P OLSEN BR
Citation: Lf. Huang et al., THE SKELETAL DEFECTS OF CLEIDOCRANIAL DYSPLASIA, Journal of dental research, 76, 1997, pp. 2839-2839
EVIDENCE OF A DELETION IN MOUSE CLEIDOCRANIAL DYSPLASIA
Authors: SIMJEE R MUNDLOS S OLSEN B
Citation: R. Simjee et al., EVIDENCE OF A DELETION IN MOUSE CLEIDOCRANIAL DYSPLASIA, Journal of dental research, 76, 1997, pp. 3072-3072
TRUNCATED ALPHA-1(X) CHAINS RETAINING NC1 DOMAIN SEQUENCES FOR CHAIN ASSOCIATION BUT LACKING SEQUENCES FOR STABILIZATION OF TYPE-X COLLAGENTRIMERS PRODUCE SCHMID METAPHYSEAL CHONDRODYSPLASIA
Authors: CHEN L ENGLISH J GIBSON G MUNDLOS S COLE WG
Citation: L. Chen et al., TRUNCATED ALPHA-1(X) CHAINS RETAINING NC1 DOMAIN SEQUENCES FOR CHAIN ASSOCIATION BUT LACKING SEQUENCES FOR STABILIZATION OF TYPE-X COLLAGENTRIMERS PRODUCE SCHMID METAPHYSEAL CHONDRODYSPLASIA, Matrix biology, 15(3), 1996, pp. 179-179
AN UNKNOWN SPONDYLO-META-EPIPHYSEAL DYSPLASIA IN SIBS WITH EXTREME SHORT STATURE
Authors: MENGER H MUNDLOS S BECKER K SPRANGER J ZABEL B
Citation: H. Menger et al., AN UNKNOWN SPONDYLO-META-EPIPHYSEAL DYSPLASIA IN SIBS WITH EXTREME SHORT STATURE, American journal of medical genetics, 63(1), 1996, pp. 80-83
AN ALPHA-1(II) GLY(913) TO CYS SUBSTITUTION PREVENTS THE MATRIX INCORPORATION OF TYPE-II COLLAGEN WHICH IS REPLACED WITH TYPE-I AND TYPE-III COLLAGENS IN CARTILAGE FROM A PATIENT WITH HYPOCHONDROGENESIS
Authors: MUNDLOS S CHAN D MCGILL J BATEMAN JF
Citation: S. Mundlos et al., AN ALPHA-1(II) GLY(913) TO CYS SUBSTITUTION PREVENTS THE MATRIX INCORPORATION OF TYPE-II COLLAGEN WHICH IS REPLACED WITH TYPE-I AND TYPE-III COLLAGENS IN CARTILAGE FROM A PATIENT WITH HYPOCHONDROGENESIS, American journal of medical genetics, 63(1), 1996, pp. 129-136
ALTERED GROWTH AND BRANCHING PATTERNS IN SYNPOLYDACTYLY CAUSED BY MUTATIONS IN HOXD13
Authors: MURAGAKI Y MUNDLOS S UPTON J OLSEN BR
Citation: Y. Muragaki et al., ALTERED GROWTH AND BRANCHING PATTERNS IN SYNPOLYDACTYLY CAUSED BY MUTATIONS IN HOXD13, Science, 272(5261), 1996, pp. 548-551
MAPPING OF THE GENE FOR CLEIDOCRANIAL DYSPLASIA IN THE HISTORICAL CAPE-TOWN (ARNOLD) KINDRED AND EVIDENCE FOR LOCUS HOMOGENEITY
Authors: RAMESAR RS GREENBERG J MARTIN R GOLIATH R BARDIEN S MUNDLOS S BEIGHTON P
Citation: Rs. Ramesar et al., MAPPING OF THE GENE FOR CLEIDOCRANIAL DYSPLASIA IN THE HISTORICAL CAPE-TOWN (ARNOLD) KINDRED AND EVIDENCE FOR LOCUS HOMOGENEITY, Journal of Medical Genetics, 33(6), 1996, pp. 511-514
MULTIEXON DELETIONS IN THE TYPE-I COLLAGEN COL1A2 GENE IN OSTEOGENESIS IMPERFECTA TYPE IB - MOLECULES CONTAINING THE SHORTENED ALPHA-2(I) CHAINS SHOW DIFFERENTIAL INCORPORATION INTO THE BONE AND SKIN EXTRACELLULAR-MATRIX
Authors: MUNDLOS S CHAN D WENG YM SILLENCE DO COLE WG BATEMAN JF
Citation: S. Mundlos et al., MULTIEXON DELETIONS IN THE TYPE-I COLLAGEN COL1A2 GENE IN OSTEOGENESIS IMPERFECTA TYPE IB - MOLECULES CONTAINING THE SHORTENED ALPHA-2(I) CHAINS SHOW DIFFERENTIAL INCORPORATION INTO THE BONE AND SKIN EXTRACELLULAR-MATRIX, The Journal of biological chemistry, 271(35), 1996, pp. 21068-21074
GENETIC-MAPPING OF CLEIDOCRANIAL DYSPLASIA AND EVIDENCE OF A MICRODELETION IN ONE FAMILY
Authors: MUNDLOS S MULLIKEN JB ABRAMSON DL WARMAN ML KNOLL JHM OLSEN BR
Citation: S. Mundlos et al., GENETIC-MAPPING OF CLEIDOCRANIAL DYSPLASIA AND EVIDENCE OF A MICRODELETION IN ONE FAMILY, Human molecular genetics, 4(1), 1995, pp. 71-75
A COL2A1 MUTATION IN ACHONDROGENESIS TYPE-II RESULTS IN THE REPLACEMENT OF TYPE-II COLLAGES BY TYPE-I AND TYPE-III COLLAGENS IN CARTILAGE
Authors: CHAN D COLE WG CHOW CW MUNDLOS S BATEMAN JF
Citation: D. Chan et al., A COL2A1 MUTATION IN ACHONDROGENESIS TYPE-II RESULTS IN THE REPLACEMENT OF TYPE-II COLLAGES BY TYPE-I AND TYPE-III COLLAGENS IN CARTILAGE, The Journal of biological chemistry, 270(4), 1995, pp. 1747-1753
CLEIDOCRANIAL DYSPLASIA IN MICE AND MEN
Authors: MUNDLOS S KNOLL JHM MUNDLOS C HUANG LF SELBY P AYLSWORTH A ALBRIGHT S HENN W MULLIKEN JB OLSEN BR
Citation: S. Mundlos et al., CLEIDOCRANIAL DYSPLASIA IN MICE AND MEN, American journal of human genetics, 57(4), 1995, pp. 1540-1540
AUTOSOMAL-DOMINANT SPONDYLARTHROPATHY DUE TO A TYPE-II PROCOLLAGEN GENE (COL2A1) POINT MUTATION
Authors: WINTERPACHT A HILBERT M SCHWARZE U MUNDLOS S SPRANGER J ZABEL B
Citation: A. Winterpacht et al., AUTOSOMAL-DOMINANT SPONDYLARTHROPATHY DUE TO A TYPE-II PROCOLLAGEN GENE (COL2A1) POINT MUTATION, Human mutation, 4(4), 1994, pp. 257-262
DEVELOPMENTAL EXPRESSION OF HUMAN CARTILAGE MATRIX PROTEIN
Authors: MUNDLOS S ZABEL B
Citation: S. Mundlos et B. Zabel, DEVELOPMENTAL EXPRESSION OF HUMAN CARTILAGE MATRIX PROTEIN, Developmental dynamics, 199(3), 1994, pp. 241-252
Risultati: 1-25 | 26-38