-
1
-
-
0026000341
-
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)
-
N. Ahmad L. Ala-Kokko R. Knowlton Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy) Proc Natl Acad Sci USA 88 1991 6624
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 6624
-
-
Ahmad, N.1
Ala-Kokko, L.2
Knowlton, R.3
-
2
-
-
0027404775
-
A second mutation in the type II procollagen gene (COL2A1) causing Stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon
-
N.N. Ahmad D.M. McDonald-McGinn E.H. Zackai A second mutation in the type II procollagen gene (COL2A1) causing Stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon Am J Hum Genet 52 1993 39
-
(1993)
Am J Hum Genet
, vol.52
, pp. 39
-
-
Ahmad, N.N.1
McDonald-McGinn, D.M.2
Zackai, E.H.3
-
3
-
-
0025009766
-
Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with mild chondrodysplasia
-
L. Ala-Koko C.T. Baldwin R.W. Moskowitz Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with mild chondrodysplasia Proc Natl Acad Sci USA 87 1990 6565
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 6565
-
-
Ala-Koko, L.1
Baldwin, C.T.2
Moskowitz, R.W.3
-
4
-
-
0027968182
-
Parathyroid hormone-related peptide-depleted mice show abnormal epiphyseal cartilage development and altered endochondral bone formation
-
N. Amizuka H. Warshawsky J.E. Henderson Parathyroid hormone-related peptide-depleted mice show abnormal epiphyseal cartilage development and altered endochondral bone formation J Cell Biol 126 1994 1611
-
(1994)
J Cell Biol
, vol.126
, pp. 1611
-
-
Amizuka, N.1
Warshawsky, H.2
Henderson, J.E.3
-
5
-
-
0027389056
-
Thermal stability and folding of the collagen triple helix and the effects of mutations in osteogenesis imperfecta on the triple helix of type I collagen
-
H.P. Ba¨chinger N.P. Morris J.M. Davis Thermal stability and folding of the collagen triple helix and the effects of mutations in osteogenesis imperfecta on the triple helix of type I collagen Am J Med Genet 45 1993 152
-
(1993)
Am J Med Genet
, vol.45
, pp. 152
-
-
Ba¨chinger, H.P.1
Morris, N.P.2
Davis, J.M.3
-
6
-
-
0028890851
-
Achondroplasia is defined by recurrent G380R mutations in FGFR3
-
G. Bellus T. Hefferon R. Ortiz de Luna Achondroplasia is defined by recurrent G380R mutations in FGFR3 Am J Hum Genet 56 1995 368
-
(1995)
Am J Hum Genet
, vol.56
, pp. 368
-
-
Bellus, G.1
Hefferon, T.2
Ortiz de Luna, R.3
-
7
-
-
0029032394
-
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia
-
G.A. Bellus I. McIntosh E.A. Smith A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia Nat Genet 10 1995 357
-
(1995)
Nat Genet
, vol.10
, pp. 357
-
-
Bellus, G.A.1
McIntosh, I.2
Smith, E.A.3
-
8
-
-
0028073691
-
Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia
-
R. Bogaert W. Wilkin R. Lachman Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia Am J Hum Genet 55 1994 1128
-
(1994)
Am J Hum Genet
, vol.55
, pp. 1128
-
-
Bogaert, R.1
Wilkin, W.2
Lachman, R.3
-
9
-
-
0028136738
-
Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing type IX collagen genes
-
M.D. Briggs H.C. Choi M.L. Warman Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing type IX collagen genes Am J Hum Genet 55 1994 678
-
(1994)
Am J Hum Genet
, vol.55
, pp. 678
-
-
Briggs, M.D.1
Choi, H.C.2
Warman, M.L.3
-
10
-
-
0029070079
-
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene
-
M.D. Briggs S.M.G. Hofman L.M. King Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene Nat Genet 10 1995 330
-
(1995)
Nat Genet
, vol.10
, pp. 330
-
-
Briggs, M.D.1
Hofman, S.M.G.2
King, L.M.3
-
11
-
-
0027762501
-
Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19
-
M.D. Briggs I.M. Rasmussen J.L. Weber Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19 Genomics 18 1993 656
-
(1993)
Genomics
, vol.18
, pp. 656
-
-
Briggs, M.D.1
Rasmussen, I.M.2
Weber, J.L.3
-
13
-
-
0028796139
-
Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy)
-
D.M. Brown K. Vandenburgh S. Weingeist Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy) Hum Mol Genet 4 1995 141
-
(1995)
Hum Mol Genet
, vol.4
, pp. 141
-
-
Brown, D.M.1
Vandenburgh, K.2
Weingeist, S.3
-
14
-
-
0028245136
-
Molecular genetics of chondrodysplasias, including clues to development, structure, and function
-
P.H. Byers Molecular genetics of chondrodysplasias, including clues to development, structure, and function Curr Opin Rheumatol 6 1994 345
-
(1994)
Curr Opin Rheumatol
, vol.6
, pp. 345
-
-
Byers, P.H.1
-
15
-
-
0025743952
-
Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells
-
D. Chan W.G. Cole Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells J Biol Chem 266 1991 12487
-
(1991)
J Biol Chem
, vol.266
, pp. 12487
-
-
Chan, D.1
Cole, W.G.2
-
16
-
-
0028965555
-
Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia
-
D. Chan W.G. Cole J.G. Rogers Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia J Biol Chem 270 1995 4558
-
(1995)
J Biol Chem
, vol.270
, pp. 4558
-
-
Chan, D.1
Cole, W.G.2
Rogers, J.G.3
-
17
-
-
0028963296
-
Recurrent substitutions of arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita
-
D. Chan J.F. Rogers J.F. Bateman Recurrent substitutions of arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita J Rheumatol Suppl 43 1995 37
-
(1995)
J Rheumatol Suppl
, vol.43
, pp. 37
-
-
Chan, D.1
Rogers, J.F.2
Bateman, J.F.3
-
18
-
-
0028254163
-
Collagen genes: Mutations affecting collagen structure and expression
-
W.G. Cole Collagen genes: Mutations affecting collagen structure and expression Prog Nucleic Acid Res Mol Biol 47 1994 29
-
(1994)
Prog Nucleic Acid Res Mol Biol
, vol.47
, pp. 29
-
-
Cole, W.G.1
-
19
-
-
0028957868
-
Genetic heterogeneity in multiple epiphyseal dysplasia
-
M. Deere S. Blanton C. Scott Genetic heterogeneity in multiple epiphyseal dysplasia Am J Hum Genet 56 1995 678
-
(1995)
Am J Hum Genet
, vol.56
, pp. 678
-
-
Deere, M.1
Blanton, S.2
Scott, C.3
-
20
-
-
0028265711
-
Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia
-
R.M. Dharmavaram M.A. Elberson M. Peng Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia Hum Mol Genet 3 1994 507
-
(1994)
Hum Mol Genet
, vol.3
, pp. 507
-
-
Dharmavaram, R.M.1
Elberson, M.A.2
Peng, M.3
-
21
-
-
0001931432
-
The type XI or 1α2α3α collagen
-
D. Eyre J.-J. Wu The type XI or 1α2α3α collagen R. Mayne R.E. Burgeson Structure and Function of Collagen Types 1987 Academic Press New York 261
-
(1987)
, pp. 261
-
-
Eyre, D.1
Wu, J.-J.2
-
22
-
-
0028135336
-
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
-
J.W. Foster M.A. Dominguez-Steglich S. Guioli Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY -related gene Nature 372 1994 525
-
(1994)
Nature
, vol.372
, pp. 525
-
-
Foster, J.W.1
Dominguez-Steglich, M.A.2
Guioli, S.3
-
23
-
-
0028300064
-
Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p
-
C.A. Francomano R.I.O. de Luna T.W. Hefferson Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p Hum Mol Genet 3 1994 787
-
(1994)
Hum Mol Genet
, vol.3
, pp. 787
-
-
Francomano, C.A.1
de Luna, R.I.O.2
Hefferson, T.W.3
-
24
-
-
0025107480
-
Diastrophic dysplasia gene maps to the distal long arm of chromosome 5
-
J. Ha¨stbacka I. Kaitila P. Sistonen Diastrophic dysplasia gene maps to the distal long arm of chromosome 5 Proc Natl Acad Sci USA 87 1990 8056
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 8056
-
-
Ha¨stbacka, J.1
Kaitila, I.2
Sistonen, P.3
-
25
-
-
0030048174
-
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): Evidence for a phenotypic series involving three chondrodysplasias
-
J. Ha¨stbacka A. Superti-Furga W.R. Wilcox Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): Evidence for a phenotypic series involving three chondrodysplasias Am J Hum Genet 58 1996 255
-
(1996)
Am J Hum Genet
, vol.58
, pp. 255
-
-
Ha¨stbacka, J.1
Superti-Furga, A.2
Wilcox, W.R.3
-
26
-
-
0027770699
-
Linkage of typical pseudoachondroplasia to chromosome 19
-
J.T. Hecht C.A. Francomano M.D. Briggs Linkage of typical pseudoachondroplasia to chromosome 19 Genomics 18 1993 661
-
(1993)
Genomics
, vol.18
, pp. 661
-
-
Hecht, J.T.1
Francomano, C.A.2
Briggs, M.D.3
-
27
-
-
0029035708
-
Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia
-
J.T. Hecht L. Nelson E. Crowder Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia Nat Genet 10 1995 325
-
(1995)
Nat Genet
, vol.10
, pp. 325
-
-
Hecht, J.T.1
Nelson, L.2
Crowder, E.3
-
28
-
-
0002623547
-
The chondrodysplasias
-
W.A. Horton J.T. Hecht The chondrodysplasias P.M. Royce B. Steinman Extracellular Matrix and Heritable Disorders of Connective Tissue 1993 Alan R. Liss New York 641
-
(1993)
, pp. 641
-
-
Horton, W.A.1
Hecht, J.T.2
-
29
-
-
0027978110
-
The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping
-
J. Ha¨stbacka A. de la Chapelle M.M. Mahtani The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping Cell 78 1994 1073
-
(1994)
Cell
, vol.78
, pp. 1073
-
-
Ha¨stbacka, J.1
de la Chapelle, A.2
Mahtani, M.M.3
-
30
-
-
0027344852
-
Structural and functional diversity in the FGF receptor multigene family
-
D.E. Johnson L.T. Lewis Structural and functional diversity in the FGF receptor multigene family Adv Cancer Res 60 1993 1
-
(1993)
Adv Cancer Res
, vol.60
, pp. 1
-
-
Johnson, D.E.1
Lewis, L.T.2
-
31
-
-
0029151746
-
High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12
-
R.G. Knowlton J.A. Cekleniak D.H. Cohn High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12 Genomics 28 1995 513
-
(1995)
Genomics
, vol.28
, pp. 513
-
-
Knowlton, R.G.1
Cekleniak, J.A.2
Cohn, D.H.3
-
32
-
-
0028882260
-
Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal
-
C. Kwok P.A. Weller S. Guioli Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal Am J Hum Genet 57 1995 1028
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1028
-
-
Kwok, C.1
Weller, P.A.2
Guioli, S.3
-
33
-
-
85114545668
-
Thrombospondins
-
J. Lawler Thrombospondins K.A. High H.R. Roberts Molecular Basis of Thrombosis and Hemostasis 1995 Marcel Dekker New York
-
(1995)
-
-
Lawler, J.1
-
34
-
-
0028365599
-
A gene for achondroplasia-hypochondroplasia maps to chromosome 4p
-
M. Le Merrer F. Rousseau L. Legeai-Mallet A gene for achondroplasia-hypochondroplasia maps to chromosome 4p Nat Genet 6 1994 318
-
(1994)
Nat Genet
, vol.6
, pp. 318
-
-
Le Merrer, M.1
Rousseau, F.2
Legeai-Mallet, L.3
-
35
-
-
0027255721
-
Isolation and characterization of the chains of type V/type XI collagen present in bovine vitreous
-
R. Mayne R.G. Brewton P.M. Mayne Isolation and characterization of the chains of type V/type XI collagen present in bovine vitreous J Biol Chem 268 1993 9381
-
(1993)
J Biol Chem
, vol.268
, pp. 9381
-
-
Mayne, R.1
Brewton, R.G.2
Mayne, P.M.3
-
36
-
-
0028961999
-
Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen
-
I. McIntosh M.H. Abbott C.A. Francomano Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen Hum Mutat 5 1995 121
-
(1995)
Hum Mutat
, vol.5
, pp. 121
-
-
McIntosh, I.1
Abbott, M.H.2
Francomano, C.A.3
-
37
-
-
0027976169
-
Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus
-
I. McIntosh M.H. Abbott M.L. Warman Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus Hum Mol Genet 3 1994 303
-
(1994)
Hum Mol Genet
, vol.3
, pp. 303
-
-
McIntosh, I.1
Abbott, M.H.2
Warman, M.L.3
-
38
-
-
0029132035
-
Fibroblast growth factor receptor mutations in human skeletal disorders
-
M. Muenke U. Schell Fibroblast growth factor receptor mutations in human skeletal disorders Trend Genet 11 1995 308
-
(1995)
Trend Genet
, vol.11
, pp. 308
-
-
Muenke, M.1
Schell, U.2
-
39
-
-
0030069658
-
A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)
-
Y. Muragaki E.C.M. Mariman S.E.C. van Beersum A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2) Nat Genet 12 1996 103
-
(1996)
Nat Genet
, vol.12
, pp. 103
-
-
Muragaki, Y.1
Mariman, E.C.M.2
van Beersum, S.E.C.3
-
40
-
-
0028601305
-
Characterization of human and mouse cartilage oligomeric matrix protein
-
G. Newton S. Weremowicz C.C. Morton Characterization of human and mouse cartilage oligomeric matrix protein Genomics 24 1994 435
-
(1994)
Genomics
, vol.24
, pp. 435
-
-
Newton, G.1
Weremowicz, S.2
Morton, C.C.3
-
41
-
-
0028829310
-
A common FGFR3 gene mutation in hypochondroplasia
-
P. Prinos T. Costa A. Sommer A common FGFR3 gene mutation in hypochondroplasia Hum Mol Genet 4 1995 2097
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2097
-
-
Prinos, P.1
Costa, T.2
Sommer, A.3
-
42
-
-
0001789870
-
Genetic disorders of the osseous skeleton
-
D.L. Rimoin R.S. Lachman Genetic disorders of the osseous skeleton P. Beighton McKusick's Heritable Disorders of Connective Tissue 1993 Mosby St Louis 557
-
(1993)
, pp. 557
-
-
Rimoin, D.L.1
Lachman, R.S.2
-
43
-
-
0027181410
-
A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: Analysis of COL2A1 gene by denaturing gradient gel electrophoresis
-
P. Ritvaniemi J. Hyland J. Ignatius A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: Analysis of COL2A1 gene by denaturing gradient gel electrophoresis Genomics 17 1993 218
-
(1993)
Genomics
, vol.17
, pp. 218
-
-
Ritvaniemi, P.1
Hyland, J.2
Ignatius, J.3
-
44
-
-
0028093135
-
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia
-
F. Rousseau J. Bonaventure L. Legeal-Mallet Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia Nature 371 1995 252
-
(1995)
Nature
, vol.371
, pp. 252
-
-
Rousseau, F.1
Bonaventure, J.2
Legeal-Mallet, L.3
-
45
-
-
0029298121
-
Stop codon FGFR3 mutations in thanatophoric dysplasia type I
-
F. Rousseau P. Saugier M. Le Merrer Stop codon FGFR3 mutations in thanatophoric dysplasia type I Nat Genet 10 1995 11
-
(1995)
Nat Genet
, vol.10
, pp. 11
-
-
Rousseau, F.1
Saugier, P.2
Le Merrer, M.3
-
46
-
-
0028943780
-
A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia
-
E. Schipani K. Kruse H. Ju¨ppner A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia Science 268 1995 98
-
(1995)
Science
, vol.268
, pp. 98
-
-
Schipani, E.1
Kruse, K.2
Ju¨ppner, H.3
-
47
-
-
0027964261
-
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
-
R. Shiang L.M. Thompson Y.-Z. Zhu Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia Cell 78 1994 335
-
(1994)
Cell
, vol.78
, pp. 335
-
-
Shiang, R.1
Thompson, L.M.2
Zhu, Y.-Z.3
-
49
-
-
0028091479
-
Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: Parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia
-
J. Spranger H. Menger S. Mundlos Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: Parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia Pediatr Radiol 24 1994 431
-
(1994)
Pediatr Radiol
, vol.24
, pp. 431
-
-
Spranger, J.1
Menger, H.2
Mundlos, S.3
-
50
-
-
0028157152
-
The type II collagenopathies: A spectrum of chondrodysplasias
-
J. Spranger A. Winterpacht B. Zabel The type II collagenopathies: A spectrum of chondrodysplasias Eur J Pediatr 153 1994 56
-
(1994)
Eur J Pediatr
, vol.153
, pp. 56
-
-
Spranger, J.1
Winterpacht, A.2
Zabel, B.3
-
51
-
-
85114533705
-
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia
-
A. Superti-Furga G.U. Eich H. Bucher A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia Eur J Pediatr 95 1995 215
-
(1995)
Eur J Pediatr
, vol.95
, pp. 215
-
-
Superti-Furga, A.1
Eich, G.U.2
Bucher, H.3
-
52
-
-
13344278021
-
Achondrogenesis type 1B is caused by mutations in the diastrophic dysplasia sulphate transporter gene
-
A. Superti-Furga J. Ha¨stbacka W.R. Wilcox Achondrogenesis type 1B is caused by mutations in the diastrophic dysplasia sulphate transporter gene Nat Genet 12 1996 100
-
(1996)
Nat Genet
, vol.12
, pp. 100
-
-
Superti-Furga, A.1
Ha¨stbacka, J.2
Wilcox, W.R.3
-
53
-
-
0028872752
-
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
-
P. Tavormina R. Shiang L. Thompson Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3 Nat Genet 9 1995 321
-
(1995)
Nat Genet
, vol.9
, pp. 321
-
-
Tavormina, P.1
Shiang, R.2
Thompson, L.3
-
54
-
-
0028860562
-
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I
-
P.L. Tavormina D.L. Rimoin D.H. Cohn Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I Hum Mol Genet 4 1995 2175
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2175
-
-
Tavormina, P.L.1
Rimoin, D.L.2
Cohn, D.H.3
-
55
-
-
0027324549
-
Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1
-
N. Tommerup W. Schempp S. Pedersen Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1 Nat Genet 4 1993 170
-
(1993)
Nat Genet
, vol.4
, pp. 170
-
-
Tommerup, N.1
Schempp, W.2
Pedersen, S.3
-
56
-
-
0028339047
-
The gene for achondroplasia maps to the telomeric region of chromosome 4p
-
M. Velinov S.A. Slaugenhaupt I. Stoilov The gene for achondroplasia maps to the telomeric region of chromosome 4p Nat Genet 5 1994 314
-
(1994)
Nat Genet
, vol.5
, pp. 314
-
-
Velinov, M.1
Slaugenhaupt, S.A.2
Stoilov, I.3
-
57
-
-
0028815298
-
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus
-
M. Vikkula E. Mariman V. Lui Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus Cell 80 1995 431
-
(1995)
Cell
, vol.80
, pp. 431
-
-
Vikkula, M.1
Mariman, E.2
Lui, V.3
-
58
-
-
0028212788
-
Type II collagen mutations in rare and common cartilage diseases
-
M. Vikkula M. Metsaranta L. Ala-Kokko Type II collagen mutations in rare and common cartilage diseases Ann Med 26 1994 107
-
(1994)
Ann Med
, vol.26
, pp. 107
-
-
Vikkula, M.1
Metsaranta, M.2
Ala-Kokko, L.3
-
59
-
-
0028589588
-
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
-
T. Wagner J. Wirth J. Meyer Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9 Cell 79 1994 1111
-
(1994)
Cell
, vol.79
, pp. 1111
-
-
Wagner, T.1
Wirth, J.2
Meyer, J.3
-
60
-
-
0027958472
-
Amino acid substitutions of conserved residues in the carboxyl terminal domain of the alpha 1 (X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid
-
G.A. Wallis B. Rash W.A. Sweetman Amino acid substitutions of conserved residues in the carboxyl terminal domain of the alpha 1 (X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid Am J Hum Genet 54 1994 169
-
(1994)
Am J Hum Genet
, vol.54
, pp. 169
-
-
Wallis, G.A.1
Rash, B.2
Sweetman, W.A.3
-
61
-
-
0027282559
-
A type X collagen mutation causes Schmid metaphyseal chondrodysplasia
-
M.L. Warman M. Abbott S.S. Apte A type X collagen mutation causes Schmid metaphyseal chondrodysplasia Nat Genet 5 1993 79
-
(1993)
Nat Genet
, vol.5
, pp. 79
-
-
Warman, M.L.1
Abbott, M.2
Apte, S.S.3
-
62
-
-
0030064347
-
Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia
-
M.K. Webster D.J. Donoghue Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia EMBO J 15 1996 520
-
(1996)
EMBO J
, vol.15
, pp. 520
-
-
Webster, M.K.1
Donoghue, D.J.2
-
63
-
-
0029294653
-
Functions of fibroblast growth factors and their receptors
-
A. Wilkie G. Moriss-Kay E. Jones Functions of fibroblast growth factors and their receptors Curr Biol 5 1995 500
-
(1995)
Curr Biol
, vol.5
, pp. 500
-
-
Wilkie, A.1
Moriss-Kay, G.2
Jones, E.3
-
64
-
-
0028912181
-
Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519Cys base substitution using conformation sensitive gel electrophoresis
-
C. Williams M. Rock E. Considine Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519Cys base substitution using conformation sensitive gel electrophoresis Hum Mol Genet 4 1995 309
-
(1995)
Hum Mol Genet
, vol.4
, pp. 309
-
-
Williams, C.1
Rock, M.2
Considine, E.3
-
65
-
-
0027471786
-
Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect
-
A. Winterpacht M. Hilbert U. Schwarze Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect Nat Genet 3 1993 323
-
(1993)
Nat Genet
, vol.3
, pp. 323
-
-
Winterpacht, A.1
Hilbert, M.2
Schwarze, U.3
|