-
1
-
-
0034015321
-
The "chef's hat" appearance of the femoral head in cleidocranial dysplasia
-
Aktas S, Wheeler D, Sussman MD. The "chef's hat" appearance of the femoral head in cleidocranial dysplasia. J Bone Joint Surg 2000; 82: 404-408
-
(2000)
J Bone Joint Surg
, vol.82
, pp. 404-408
-
-
Aktas, S.1
Wheeler, D.2
Sussman, M.D.3
-
2
-
-
84940122436
-
Histochemistry and development of the human shoulder and acromioclavicular joint with particular reference to the early development of the clavicle
-
Anderson H. Histochemistry and development of the human shoulder and acromioclavicular joint with particular reference to the early development of the clavicle. Acta Anat 1963; 55: 124-165
-
(1963)
Acta Anat
, vol.55
, pp. 124-165
-
-
Anderson, H.1
-
4
-
-
0035889364
-
A natural history of cleidocranial dysplasia
-
Cooper SC, Flaitz CM, Johnston DA, Lee B, Hecht JT. A natural history of cleidocranial dysplasia. Am J Med Genet 2001; 104: 1-6
-
(2001)
Am J Med Genet
, vol.104
, pp. 1-6
-
-
Cooper, S.C.1
Flaitz, C.M.2
Johnston, D.A.3
Lee, B.4
Hecht, J.T.5
-
5
-
-
0030994982
-
No bones about a genetic switch for bone growth
-
Dickman S. No bones about a genetic switch for bone growth. Science 1997; 276: 1502
-
(1997)
Science
, vol.276
, pp. 1502
-
-
Dickman, S.1
-
6
-
-
0018427024
-
Cleidocranial dysplasia. A family study
-
Eventov I, Reider-Grosswasser I, Weiss S, Legum C, Schorr S. Cleidocranial dysplasia. A family study. Clin Radiol 1979; 30: 323-328
-
(1979)
Clin Radiol
, vol.30
, pp. 323-328
-
-
Eventov, I.1
Reider-Grosswasser, I.2
Weiss, S.3
Legum, C.4
Schorr, S.5
-
7
-
-
0014282242
-
The embryology of the clavicle
-
Gardner E. The embryology of the clavicle. Clin Orthop 1986; 58: 9-16
-
(1986)
Clin Orthop
, vol.58
, pp. 9-16
-
-
Gardner, E.1
-
8
-
-
0037643329
-
Ein fall von erblichem mangel der pars acromialis claviculare, mit bemerkungen uber die entwickelung der clavicula
-
Gegenbaur C. Ein Fall von erblichem Mangel der Pars acromialis claviculare, mit Bemerkungen Uber die Entwickelung der Clavicula. Jen Zeitschrift 1864; 1
-
(1864)
Jen Zeitschrift
, pp. 1
-
-
Gegenbaur, C.1
-
9
-
-
0037643327
-
Angeborene fehlbildungen des schultergelenks
-
Gohke F, Hedtmann A (Hrsg). Stuttgart, New York: Thieme
-
Gohlke F. Angeborene Fehlbildungen des Schultergelenks. In: Gohke F, Hedtmann A (Hrsg). Schulter: das Standardwerk für Klinik und Praxis. Stuttgart, New York: Thieme, 2002: 175-183
-
(2002)
Schulter: Das Standardwerk für Klinik und Praxis
, pp. 175-183
-
-
Gohlke, F.1
-
10
-
-
0036832573
-
Atypical expression of cleidocranial dysplasia: Clinical and molecular-genetic analysis
-
Golan I, Baumert U, Wagener H, Dauwerse J, Preising M, Lorenz B, Niederdellmann H, Mussig D. Atypical expression of cleidocranial dysplasia: clinical and molecular-genetic analysis. Orthod Craniofac Res 2002; 5: 243-249
-
(2002)
Orthod Craniofac Res
, vol.5
, pp. 243-249
-
-
Golan, I.1
Baumert, U.2
Wagener, H.3
Dauwerse, J.4
Preising, M.5
Lorenz, B.6
Niederdellmann, H.7
Mussig, D.8
-
11
-
-
0034469289
-
A novel missense mutation of the CBFA1 gene in a family with cleidocranial dysplasia (CCD) and variable expressivity
-
Golan I, Preising M, Wagener H, Baumert U, Niederdellmann H, Lorenz B, Müßig D. A novel missense mutation of the CBFA1 gene in a family with cleidocranial dysplasia (CCD) and variable expressivity. J Craniofac Genet Dev Biol 2000; 20: 113-120
-
(2000)
J Craniofac Genet Dev Biol
, vol.20
, pp. 113-120
-
-
Golan, I.1
Preising, M.2
Wagener, H.3
Baumert, U.4
Niederdellmann, H.5
Lorenz, B.6
Müßig, D.7
-
13
-
-
0034918028
-
Identification of a novel frameshift mutation (383insT) in the RUNX2 (PEBP2α/CBFA1/AML3) gene in a Japanese patient with cleidocranial dysplasia
-
Goseki-Sone M, Orimo H, Watanabe A, Hamatani R, Yokozeki M, Ohyama K, Kuroda T, Watanabe H, Miyazaki H, Shimada T, Oida S. Identification of a novel frameshift mutation (383insT) in the RUNX2 (PEBP2α/CBFA1/AML3) gene in a Japanese patient with cleidocranial dysplasia. J Bone Miner Metab 2001; 19: 263-266
-
(2001)
J Bone Miner Metab
, vol.19
, pp. 263-266
-
-
Goseki-Sone, M.1
Orimo, H.2
Watanabe, A.3
Hamatani, R.4
Yokozeki, M.5
Ohyama, K.6
Kuroda, T.7
Watanabe, H.8
Miyazaki, H.9
Shimada, T.10
Oida, S.11
-
14
-
-
0030866935
-
Mouse clavicular development: Analysis of wild-type and cleidocranial dysplasia mutant mice
-
Huang LF, Fukai N, Selby PB, Olsen BR, Mundlos S. Mouse clavicular development: analysis of wild-type and cleidocranial dysplasia mutant mice. Dev Dyn 1997; 210: 33-40
-
(1997)
Dev Dyn
, vol.210
, pp. 33-40
-
-
Huang, L.F.1
Fukai, N.2
Selby, P.B.3
Olsen, B.R.4
Mundlos, S.5
-
15
-
-
0034743732
-
A RUNX2/PEBP2αA/CBFA1 mutation in cleidocranial dysplasia revealing the link between the gene and Smad
-
Ito Y, Zhang YW. A RUNX2/PEBP2αA/CBFA1 mutation in cleidocranial dysplasia revealing the link between the gene and Smad. J Bone Miner Metab 2001; 19: 188-194
-
(2001)
J Bone Miner Metab
, vol.19
, pp. 188-194
-
-
Ito, Y.1
Zhang, Y.W.2
-
16
-
-
0027223668
-
Development of the skull in infants with cleidocranial dysplasia
-
Jensen BL, Kreiborg S. Development of the skull in infants with cleidocranial dysplasia. J Craniofac Genet Dev Biol 1993; 13: 89-97
-
(1993)
J Craniofac Genet Dev Biol
, vol.13
, pp. 89-97
-
-
Jensen, B.L.1
Kreiborg, S.2
-
17
-
-
0001626567
-
Die früherkennung der clavicula beim menschen
-
Koch AR. Die Früherkennung der Clavicula beim Menschen. Acta Anat 1960; 42: 177-212
-
(1960)
Acta Anat
, vol.42
, pp. 177-212
-
-
Koch, A.R.1
-
18
-
-
0033053611
-
Anomalies of craniofacial skeleton and teeth in cleidocranial dysplasia
-
Kreiborg S, Jensen BL, Larsen P, Schleidt DT, Darvann T. Anomalies of craniofacial skeleton and teeth in cleidocranial dysplasia. J Craniofac Genet Dev Biol 1999; 19: 75-79
-
(1999)
J Craniofac Genet Dev Biol
, vol.19
, pp. 75-79
-
-
Kreiborg, S.1
Jensen, B.L.2
Larsen, P.3
Schleidt, D.T.4
Darvann, T.5
-
19
-
-
0030927622
-
Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia
-
Lee B, Thirunavukkarasu K, Zhou L, Pastore L, Baldini A, Hecht J, Geoffroy V, Ducy P, Karsenty G. Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. Nat Genet 1997; 16: 307-310
-
(1997)
Nat Genet
, vol.16
, pp. 307-310
-
-
Lee, B.1
Thirunavukkarasu, K.2
Zhou, L.3
Pastore, L.4
Baldini, A.5
Hecht, J.6
Geoffroy, V.7
Ducy, P.8
Karsenty, G.9
-
20
-
-
0000355367
-
Sur la dysostose cleido-crânienne héréditaire
-
Marie P, Sainton P. Sur la dysostose cleido-crânienne héréditaire. Rev Neurol 1898; 6: 835-838
-
(1898)
Rev Neurol
, vol.6
, pp. 835-838
-
-
Marie, P.1
Sainton, P.2
-
21
-
-
15444351110
-
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia
-
Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, Lindhout D, Cole WG, Henn W, Knoll JH, owen MJ, Mertelsmann R, Zabel BU, Olsen BR. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 1997; 89: 773-779
-
(1997)
Cell
, vol.89
, pp. 773-779
-
-
Mundlos, S.1
Otto, F.2
Mundlos, C.3
Mulliken, J.B.4
Aylsworth, A.S.5
Albright, S.6
Lindhout, D.7
Cole, W.G.8
Henn, W.9
Knoll, J.H.10
Owen, M.J.11
Mertelsmann, R.12
Zabel, B.U.13
Olsen, B.R.14
-
22
-
-
0026135240
-
Behandlungsmaßnahmen bei patienten mit dysostosis cleidocranialis
-
Müßig D, Hirschfelder U, Spitzer W. Behandlungsmaßnahmen bei Patienten mit Dysostosis cleidocranialis. Dtsch Zahnärztl Z 1991; 46: 308-312
-
(1991)
Dtsch Zahnärztl Z
, vol.46
, pp. 308-312
-
-
Müßig, D.1
Hirschfelder, U.2
Spitzer, W.3
-
23
-
-
0030666372
-
Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development
-
Otto F, Thornell AP, Crompton T, Denzel A, Gilmour KC, Rosewell IR, Stamp GW, Beddington RS, Mundlos S, Olsen BR, Selby PB, Owen MK. Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development. Cell 1997; 89: 765-771
-
(1997)
Cell
, vol.89
, pp. 765-771
-
-
Otto, F.1
Thornell, A.P.2
Crompton, T.3
Denzel, A.4
Gilmour, K.C.5
Rosewell, I.R.6
Stamp, G.W.7
Beddington, R.S.8
Mundlos, S.9
Olsen, B.R.10
Selby, P.B.11
Owen, M.K.12
-
24
-
-
0033365108
-
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia
-
Quack I, Vonderstrass B, Stock M, Aylsworth AS, Becket A, Brueton L, Lee PJ, Majewski F, Mulliken JB, Suri M, Zenker M, Mundlos S, Otto F. Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. Am J Hum Genet 1999; 65: 1268-1278
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1268-1278
-
-
Quack, I.1
Vonderstrass, B.2
Stock, M.3
Aylsworth, A.S.4
Becket, A.5
Brueton, L.6
Lee, P.J.7
Majewski, F.8
Mulliken, J.B.9
Suri, M.10
Zenker, M.11
Mundlos, S.12
Otto, F.13
-
25
-
-
0028696094
-
Facial and dental anomalies in cleidocranial dysplasia: A study of 17 cases
-
Richardson A, Deussen FF. Facial and dental anomalies in cleidocranial dysplasia: a study of 17 cases. Int J Paediatr Dent 1994; 4: 225-231
-
(1994)
Int J Paediatr Dent
, vol.4
, pp. 225-231
-
-
Richardson, A.1
Deussen, F.F.2
-
26
-
-
0016721934
-
Cleidocranial dysostosis
-
Siggers DC. Cleidocranial dysostosis. Dev Med Child Neurol 1975; 17: 522-524
-
(1975)
Dev Med Child Neurol
, vol.17
, pp. 522-524
-
-
Siggers, D.C.1
-
27
-
-
0033735528
-
A stop codon mutation in the CBFA1 gene causes cleidocranial dysplasia
-
Tsai FJ, Wu JY, Lin WD, Tsai CH. A stop codon mutation in the CBFA1 gene causes cleidocranial dysplasia. Acta Paediatr 2000; 89: 1262-1265
-
(2000)
Acta Paediatr
, vol.89
, pp. 1262-1265
-
-
Tsai, F.J.1
Wu, J.Y.2
Lin, W.D.3
Tsai, C.H.4
-
28
-
-
0034466842
-
A case of Japanese cleidocranial dysplasia with a CBFA1 frameshift mutation
-
Yokozeki M, Ohyama K, Tsuji M, Goseki-Sone M, Oida S, Orimo H, Moriyama K, Kuroda T. A case of Japanese cleidocranial dysplasia with a CBFA1 frameshift mutation. J Craniofac Genet Dev Biol 2000; 20: 121-126
-
(2000)
J Craniofac Genet Dev Biol
, vol.20
, pp. 121-126
-
-
Yokozeki, M.1
Ohyama, K.2
Tsuji, M.3
Goseki-Sone, M.4
Oida, S.5
Orimo, H.6
Moriyama, K.7
Kuroda, T.8
-
29
-
-
0032718003
-
CBFA1 mutation analysis and functional correlation with phenotypic variabilityin cleidocranial dysplasia
-
Zhou G, Chen Y, Zhou L, Thirunavukkarasu K, Hecht J, Chitayat D, Gelb BD, Pirinen S, Berry SA, Greenberg CR, Karsenty G, Lee B. CBFA1 mutation analysis and functional correlation with phenotypic variabilityin cleidocranial dysplasia. Hum Mol Genet 1999; 8: 2311-2316
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2311-2316
-
-
Zhou, G.1
Chen, Y.2
Zhou, L.3
Thirunavukkarasu, K.4
Hecht, J.5
Chitayat, D.6
Gelb, B.D.7
Pirinen, S.8
Berry, S.A.9
Greenberg, C.R.10
Karsenty, G.11
Lee, B.12
|