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Volumn 15, Issue 5, 2008, Pages 789-791

Osteogenesis imperfecta, diagnosis information (clinical and genetic classification);Ostéogenèse imparfaite, annonce du diagnostic (classification clinique et génétique)

(4) Baujat, G a Lebre, A S a Cormier Daire, V a Le Merrer, M a

a HÔPITAL NECKER ENFANTS MALADES (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BONE DEVELOPMENT; DISEASE CLASSIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; OSTEOGENESIS IMPERFECTA; PHENOTYPE; POSTNATAL CARE; PRENATAL CARE;

COLLAGEN; FETAL DISEASES; HUMANS; OSTEOGENESIS IMPERFECTA;

EID: 45449115949 PISSN: 0929693X EISSN: None Source Type: Journal
DOI: 10.1016/S0929-693X(08)71912-2 Document Type: Article

Times cited : (14)

References (10)

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- Sillence, D.O.¹ Senn, A.² Danks, D.M.³

2
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- Osteogenesis imperfecta
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- Rauch, F.¹ Glorieux, F.H.²

3
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- Osteogenesis Imperfecta
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- Maroteaux, P.¹ le Merrer, M.²

4
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- Collagen genes and proteins in osteogenesis imperfecta
- Pope F.M., Nicholls A.C., McPheat J., et al. Collagen genes and proteins in osteogenesis imperfecta. J Med Genet 22 (1985) 466-478
- (1985) J Med Genet , vol.22 , pp. 466-478
- Pope, F.M.¹ Nicholls, A.C.² McPheat, J.³

5
- 0021252139
- The clinical features of homozygous alpha 2 (I) collagen deficient osteogenesis imperfecta
- Nicholls A.C., Osse G., Schloon H.G., et al. The clinical features of homozygous alpha 2 (I) collagen deficient osteogenesis imperfecta. J Med Genet 21 (1984) 257-262
- (1984) J Med Genet , vol.21 , pp. 257-262
- Nicholls, A.C.¹ Osse, G.² Schloon, H.G.³

6
- 0035873854
- Excess paternal age in apparently sporadic osteogenesis imperfecta
- Blumsohn A., McAllion S.J., and Paterson C.R. Excess paternal age in apparently sporadic osteogenesis imperfecta. Am J Med Genet 100 (2001) 280-286
- (2001) Am J Med Genet , vol.100 , pp. 280-286
- Blumsohn, A.¹ McAllion, S.J.² Paterson, C.R.³

7
- 0035085755
- Heritable collagen disorders:from genotype to phenotype
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- (2001) Acta Clin Belg , vol.56 , pp. 10-16
- De Paepe, A.¹ Nuytinck, L.²

8
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- Gly802Asp substitution in the pro alpha 2 (I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism
- Lund A.M., Schwartz M., Raghunath M., et al. Gly802Asp substitution in the pro alpha 2 (I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism. Eur J Hum Genet 4 (1996) 39-45
- (1996) Eur J Hum Genet , vol.4 , pp. 39-45
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9
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- Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta
- Barnes A.M., Chang W., Morello R., et al. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med 355 (2006) 2757-2764
- (2006) N Engl J Med , vol.355 , pp. 2757-2764
- Barnes, A.M.¹ Chang, W.² Morello, R.³

10
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- Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta
- Cabral W.A., Chang W., Barnes A.M., et al. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet 39 (2007) 359-365
- (2007) Nat Genet , vol.39 , pp. 359-365
- Cabral, W.A.¹ Chang, W.² Barnes, A.M.³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.