-
1
-
-
0031757460
-
International nomenclature and classification of the osteochondrodysplasias (1997)
-
Lachman RS. International nomenclature and classification of the osteochondrodysplasias (1997). Pediatr Radiol 1998: 28 (10): 737-744.
-
(1998)
Pediatr Radiol
, vol.28
, Issue.10
, pp. 737-744
-
-
Lachman, R.S.1
-
2
-
-
33745894997
-
Genetic analysis of skeletal dysplasia: Recent advances and perspectives in the post-genome-sequence era
-
Ikegawa S. Genetic analysis of skeletal dysplasia: Recent advances and perspectives in the post-genome-sequence era. J Hum Genet 2006: 51 (7): 581-586.
-
(2006)
J Hum Genet
, vol.51
, Issue.7
, pp. 581-586
-
-
Ikegawa, S.1
-
3
-
-
0036509934
-
A mutant PTH/PTHrP type I receptor in enchondromatosis
-
Hopyan S, Gokgoz N, Poon R et al. A mutant PTH/PTHrP type I receptor in enchondromatosis. Nat Genet 2002: 30 (3): 306-310.
-
(2002)
Nat Genet
, vol.30
, Issue.3
, pp. 306-310
-
-
Hopyan, S.1
Gokgoz, N.2
Poon, R.3
-
4
-
-
0038687536
-
Developmental regulation of the growth plate
-
Kronenberg HM. Developmental regulation of the growth plate. Nature 2003: 423 (6937): 332-336.
-
(2003)
Nature
, vol.423
, Issue.6937
, pp. 332-336
-
-
Kronenberg, H.M.1
-
5
-
-
0032888798
-
Molecular and cellular basis of pattern formation during vertebrate limb development
-
Ng JK, Tamura K, Buscher D, Izpisua-Belmonte JC. Molecular and cellular basis of pattern formation during vertebrate limb development. Curr Top Dev Biol 1999: 41: 37-66.
-
(1999)
Curr Top Dev Biol
, vol.41
, pp. 37-66
-
-
Ng, J.K.1
Tamura, K.2
Buscher, D.3
Izpisua-Belmonte, J.C.4
-
6
-
-
0037108133
-
Molecular basis of vertebrate limb patterning
-
Tickle C. Molecular basis of vertebrate limb patterning. Am J Med Genet 2002: 112 (3): 250-255.
-
(2002)
Am J Med Genet
, vol.112
, Issue.3
, pp. 250-255
-
-
Tickle, C.1
-
7
-
-
33644872519
-
The new bone biology: Pathologic, molecular, and clinical correlates
-
Cohen MM Jr. The new bone biology: Pathologic, molecular, and clinical correlates. Am J Med Genet A 2006: 140 (23): 2646-2706.
-
(2006)
Am J Med Genet A
, vol.140
, Issue.23
, pp. 2646-2706
-
-
Cohen Jr., M.M.1
-
8
-
-
33744764558
-
PTHrP and skeletal development
-
Kronenberg HM. PTHrP and skeletal development. Ann N Y Acad Sci 2006: 1068: 1-13.
-
(2006)
Ann N Y Acad Sci
, vol.1068
, pp. 1-13
-
-
Kronenberg, H.M.1
-
9
-
-
23044442078
-
Cartilage formation in growth plate and arteries: From physiology to pathology
-
Magne D, Julien M, Vinatier C, Merhi-Soussi F, Weiss P, Guicheux J. Cartilage formation in growth plate and arteries: From physiology to pathology. Bioessays 2005: 27 (7): 708-716.
-
(2005)
Bioessays
, vol.27
, Issue.7
, pp. 708-716
-
-
Magne, D.1
Julien, M.2
Vinatier, C.3
Merhi-Soussi, F.4
Weiss, P.5
Guicheux, J.6
-
10
-
-
0036336076
-
A classification for genetic disorders of interest to orthopaedists
-
Alman BA. A classification for genetic disorders of interest to orthopaedists. Clin Orthop Relat Res 2002: 401: 17-26.
-
(2002)
Clin Orthop Relat Res
, vol.401
, pp. 17-26
-
-
Alman, B.A.1
-
11
-
-
0033813919
-
Transcriptional mechanisms of chondrocyte differentiation
-
de Crombrugghe B, Lefebvre V, Behringer RR, Bi W, Murakami S, Huang W. Transcriptional mechanisms of chondrocyte differentiation. Matrix Biol 2000: 19 (5): 389-394.
-
(2000)
Matrix Biol
, vol.19
, Issue.5
, pp. 389-394
-
-
de Crombrugghe, B.1
Lefebvre, V.2
Behringer, R.R.3
Bi, W.4
Murakami, S.5
Huang, W.6
-
12
-
-
26844502418
-
Transcriptional control of chondrocyte fate and differentiation
-
Lefebvre V, Smits P. Transcriptional control of chondrocyte fate and differentiation. Birth Defects Res C Embryo Today 2005: 75 (3): 200-212.
-
(2005)
Birth Defects Res C Embryo Today
, vol.75
, Issue.3
, pp. 200-212
-
-
Lefebvre, V.1
Smits, P.2
-
13
-
-
0142091154
-
Distinct phases of coordinated early and late gene expression in growth plate chondrocytes in relationship to cell proliferation, matrix assembly, remodeling, and cell differentiation
-
Tchetina E, Mwale F, Poole AR. Distinct phases of coordinated early and late gene expression in growth plate chondrocytes in relationship to cell proliferation, matrix assembly, remodeling, and cell differentiation. J Bone Miner Res 2003: 18 (5): 844-851.
-
(2003)
J Bone Miner Res
, vol.18
, Issue.5
, pp. 844-851
-
-
Tchetina, E.1
Mwale, F.2
Poole, A.R.3
-
14
-
-
9344241375
-
PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth
-
Lanske B, Karaplis AC, Lee K et al. PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth. Science 1996: 273 (5275): 663-666.
-
(1996)
Science
, vol.273
, Issue.5275
, pp. 663-666
-
-
Lanske, B.1
Karaplis, A.C.2
Lee, K.3
-
15
-
-
0031016134
-
Skeletal development in transgenic mice expressing a mutation at Gly574Ser of type II collagen
-
Maddox BK, Garofalo S, Smith C, Keene DR, Horton WA. Skeletal development in transgenic mice expressing a mutation at Gly574Ser of type II collagen. Dev Dyn 1997: 208 (2): 170-177.
-
(1997)
Dev Dyn
, vol.208
, Issue.2
, pp. 170-177
-
-
Maddox, B.K.1
Garofalo, S.2
Smith, C.3
Keene, D.R.4
Horton, W.A.5
-
16
-
-
0025990014
-
Reduced amounts of cartilage collagen fibrils and growth plate anomalies in transgenic mice harboring a glycine-to-cysteine mutation in the mouse type II procollagen alpha 1-chain gene
-
Garofalo S, Vuorio E, Metsaranta M et al. Reduced amounts of cartilage collagen fibrils and growth plate anomalies in transgenic mice harboring a glycine-to-cysteine mutation in the mouse type II procollagen alpha 1-chain gene. Proc Natl Acad Sci U S A 1991: 88 (21): 9648-9652.
-
(1991)
Proc Natl Acad Sci U S A
, vol.88
, Issue.21
, pp. 9648-9652
-
-
Garofalo, S.1
Vuorio, E.2
Metsaranta, M.3
-
17
-
-
0034849060
-
Impact of mutations of cartilage matrix genes on matrix structure, gene activity and chondrogenesis
-
So CL, Kaluarachchi K, Tam PP, Cheah KS. Impact of mutations of cartilage matrix genes on matrix structure, gene activity and chondrogenesis. Osteoarthritis Cartilage 2001: 9 (Suppl. A): S160-S173.
-
(2001)
Osteoarthritis Cartilage
, vol.9
, Issue.SUPPL. A
-
-
So, C.L.1
Kaluarachchi, K.2
Tam, P.P.3
Cheah, K.S.4
-
18
-
-
0034762339
-
A mutation in COL9A1 causes multiple epiphyseal dysplasia: Further evidence for locus heterogeneity
-
Czarny-Ratajczak M, Lohiniva J, Rogala P et al. A mutation in COL9A1 causes multiple epiphyseal dysplasia: Further evidence for locus heterogeneity. Am J Hum Genet 2001: 69 (5): 969-980.
-
(2001)
Am J Hum Genet
, vol.69
, Issue.5
, pp. 969-980
-
-
Czarny-Ratajczak, M.1
Lohiniva, J.2
Rogala, P.3
-
19
-
-
0023658423
-
Collagen type IX: Evidence for covalent linkages to type II collagen in cartilage
-
Eyre DR, Apon S, Wu JJ, Ericsson LH, Walsh KA. Collagen type IX: evidence for covalent linkages to type II collagen in cartilage. FEBS Lett 1987: 220 (2): 337-341.
-
(1987)
FEBS Lett
, vol.220
, Issue.2
, pp. 337-341
-
-
Eyre, D.R.1
Apon, S.2
Wu, J.J.3
Ericsson, L.H.4
Walsh, K.A.5
-
20
-
-
0028135336
-
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
-
Foster JW, Dominguez-Steglich MA, Guioli S et al. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 1994: 372 (6506): 525-530.
-
(1994)
Nature
, vol.372
, Issue.6506
, pp. 525-530
-
-
Foster, J.W.1
Dominguez-Steglich, M.A.2
Guioli, S.3
-
21
-
-
0020615253
-
The campomelic syndrome: Review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971
-
Houston CS, Opitz JM, Spranger JW et al. The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971. Am J Med Genet 1983: 15 (1): 3-28.
-
(1983)
Am J Med Genet
, vol.15
, Issue.1
, pp. 3-28
-
-
Houston, C.S.1
Opitz, J.M.2
Spranger, J.W.3
-
22
-
-
0027964261
-
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
-
Shiang R, Thompson LM, Zhu YZ et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 1994: 78 (2): 335-342.
-
(1994)
Cell
, vol.78
, Issue.2
, pp. 335-342
-
-
Shiang, R.1
Thompson, L.M.2
Zhu, Y.Z.3
-
24
-
-
0031819322
-
Medical complications of achondroplasia: A multicentre patient review
-
Hunter AG, Bankier A, Rogers JG, Sillence D, Scott CI Jr. Medical complications of achondroplasia: A multicentre patient review. J Med Genet 1998: 35 (9): 705-712.
-
(1998)
J Med Genet
, vol.35
, Issue.9
, pp. 705-712
-
-
Hunter, A.G.1
Bankier, A.2
Rogers, J.G.3
Sillence, D.4
Scott Jr., C.I.5
-
25
-
-
0022000808
-
A case of lethal congenital dwarfism with accelerated skeletal maturation
-
Blomstrand S, Claesson I, Save-Soderbergh J. A case of lethal congenital dwarfism with accelerated skeletal maturation. Pediatr Radiol 1985: 15 (2): 141-143.
-
(1985)
Pediatr Radiol
, vol.15
, Issue.2
, pp. 141-143
-
-
Blomstrand, S.1
Claesson, I.2
Save-Soderbergh, J.3
-
26
-
-
0017175897
-
Jansen's metaphyseal dysostosis
-
Gordon SL, Varano LA, Alandete A, Maisels MJ. Jansen's metaphyseal dysostosis. Pediatrics 1976: 58 (4): 556-560.
-
(1976)
Pediatrics
, vol.58
, Issue.4
, pp. 556-560
-
-
Gordon, S.L.1
Varano, L.A.2
Alandete, A.3
Maisels, M.J.4
-
27
-
-
0032128253
-
Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia
-
Jobert AS, Zhang P, Couvineau A et al. Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. J Clin Invest 1998: 102 (1): 34-40.
-
(1998)
J Clin Invest
, vol.102
, Issue.1
, pp. 34-40
-
-
Jobert, A.S.1
Zhang, P.2
Couvineau, A.3
-
28
-
-
0028943780
-
A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia
-
Schipani E, Kruse K, Juppner H. A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 1995: 268 (5207): 98-100.
-
(1995)
Science
, vol.268
, Issue.5207
, pp. 98-100
-
-
Schipani, E.1
Kruse, K.2
Juppner, H.3
-
29
-
-
15444351110
-
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia
-
Mundlos S, Otto F, Mundlos C et al. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 1997: 89 (5): 773-779.
-
(1997)
Cell
, vol.89
, Issue.5
, pp. 773-779
-
-
Mundlos, S.1
Otto, F.2
Mundlos, C.3
-
30
-
-
33751106713
-
Runx2 inhibits chondrocyte proliferation and hypertrophy through its expression in the perichondrium
-
Hinoi E, Bialek P, Chen YT et al. Runx2 inhibits chondrocyte proliferation and hypertrophy through its expression in the perichondrium. Genes Dev 2006: 20 (21): 2937-2942.
-
(2006)
Genes Dev
, vol.20
, Issue.21
, pp. 2937-2942
-
-
Hinoi, E.1
Bialek, P.2
Chen, Y.T.3
-
31
-
-
0033048965
-
Cleidocranial dysplasia: Clinical and molecular genetics
-
Mundlos S. Cleidocranial dysplasia: Clinical and molecular genetics. J Med Genet 1999: 36 (3): 177-182.
-
(1999)
J Med Genet
, vol.36
, Issue.3
, pp. 177-182
-
-
Mundlos, S.1
-
32
-
-
0024312169
-
Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias
-
Murray LW, Bautista J, James PL, Rimoin DL. Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias. Am J Hum Genet 1989: 45 (1): 5-15.
-
(1989)
Am J Hum Genet
, vol.45
, Issue.1
, pp. 5-15
-
-
Murray, L.W.1
Bautista, J.2
James, P.L.3
Rimoin, D.L.4
-
33
-
-
0014735194
-
Spondyloepiphyseal dysplasia congenita
-
Spranger JW, Langer LO Jr. Spondyloepiphyseal dysplasia congenita. Radiology 1970: 94 (2): 313-322.
-
(1970)
Radiology
, vol.94
, Issue.2
, pp. 313-322
-
-
Spranger, J.W.1
Langer Jr., L.O.2
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