SCOPUS 정보 검색 플랫폼

Volumn 13, Issue 1, 2002, Pages 23-28

A case of acampomelic campomelic dysplasia

a NONE (Turkey)

Author keywords

Acampomelic variant; Campomelic dysplasia; Hypoplastic scapulae; Respiratory distress

Indexed keywords

ARTICLE; BONE MALFORMATION; BONE RADIOGRAPHY; CASE REPORT; CHILD; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DYSPLASIA; HUMAN; LIMB MALFORMATION; MALE; PHENOTYPIC VARIATION; RESPIRATORY DISTRESS; SCAPULA;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; DWARFISM; HUMANS; INFANT, NEWBORN; MALE; MUSCULOSKELETAL ABNORMALITIES; RESPIRATORY DISTRESS SYNDROME, NEWBORN; SCAPULA; SYNDROME; TURKEY;

EID: 0036204060 PISSN: 10158146 EISSN: None Source Type: Journal
DOI: None Document Type: Article

Times cited : (3)

References (23)

1
- 0019219667
- Long-limbed campomelic dwarfism. A radiologic and pathologic study
- (1980) Am. J. Dis. Child. , vol.134 , pp. 1035-1042
- Austin, G.E.¹ Gold, R.H.² Mirra, J.M.³ Perry, S.⁴ Moedjono, S.⁵

2
- 0031003272
- SOX9 directly regulates the type II collagen gene
- (1997) Nat. Genet. , vol.16 , pp. 174-178
- Bell, D.M.¹ Leung, K.K.H.² Wheatleys, S.C.³ Ng, L.J.⁴ Ahou, S.⁵ Ling, K.W.⁶ Sham, M.H.⁷ Kiipman, P.⁸ Tam, P.P.L.⁹ Cheah, K.S.E.¹⁰

3
- 0029840844
- A novel germ line mutation in SOX 9 causes familial campomelic dysplasia and sex reversal
- (1996) Hum. Mol. Genet. , vol.5 , Issue.10 , pp. 1625-1630
- Cameron, F.J.¹ Hageman, R.M.² Cooke-Yarborough, C.³ Kwok, C.⁴ Goodwin, L.L.⁵ Sillence, D.O.⁶ Sinclair, A.H.⁷

4
- 0024586122
- Spinal abnormalities in camptomelic dysplasia
- (1989) J. Pediatr. Orthop. , vol.9 , pp. 6-14
- Coscia, M.F.¹ Bassett, G.S.² Bowen, J.R.³ Ogilvie, J.W.⁴ Winter, R.B.⁵ Simonton, S.C.⁶

5
- 0008737250
- Edinburgh, London. Melbourn. New-York, Churcill Livingstone
- (1990) Principles and Practice of Medical Genetics , vol.1 , pp. 910-911
- Emery, A.E.H.¹ Rimoin, D.L.²

6
- 0028135336
- Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY- related gene
- (1994) Nature , vol.372 , pp. 525-530
- Foster, J.W.¹ Dominguez-Steglich, M.A.² Guioli, S.³ Kwok, C.⁴ Weller, P.A.⁵ Stevanovic, M.⁶ Weissenbach, J.⁷ Mansour, S.⁸ Young, I.D.⁹ Goodfellow, P.N.¹⁰ Brook, J.D.¹¹ Schafer, A.J.¹²

7
- 0026884257
- Campomelic dysplasia without overt campomelia
- (1992) Clin. Dysmorphol. , vol.1 , pp. 172-178
- Friedrich, U.¹ Schaefer, E.² Meinecke, P.³

8
- 0031039548
- Acampomelic campomelic dysplasia: Further radiographic variations
- (1997) Am. J. Med. Genet. , vol.69 , pp. 29-32
- Glass, R.B.J.¹ Rosenbaum, K.N.²

9
- 0018841899
- Campomelic dysplasia. Further elucidation of a distinct entity
- (1980) Am. J. Dis. Child. , vol.134 , pp. 285-289
- Hall, B.D.¹ Spranger, J.W.²

10
- 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
- (1983) Am. J. Med. Genet. , vol.15 , pp. 3-28
- Houston, C.S.¹ Opitz, J.M.² Spranger, J.M.³ Macpherson, R.I.⁴ Reed, M.H.⁵ Gilbert, E.F.⁶ Herrmann, J.⁷ Schinzel, A.⁸

11
- 0003597161
- Philadelphia, London, Toronto, Montreal, Sydney, Tokyo, W. B. Saunders Company
- (1997) th Edition , pp. 344-345
- Jones, K.L.¹

12
- 0017125928
- Heterogeneity in the campomelic syndromes. Long-and short-bone varieties
- (1976) Radiology , vol.120 , pp. 641-647
- Khajavi, A.¹ Lachman, R.² Rimoin, D.³ Schimke, R.N.⁴ Dorst, J.⁵ Handmaker, S.⁶ Ebbin, A.⁷ Perreault, G.⁸

13
- 0001573032
- Campomelic syndrome without campomelia
- (1980) Ann. Radiol. , vol.23 , pp. 168
- Lindgren, F.¹ Ringertz, H.²

14
- 0027279819
- Campomelic dysplasia: Evidence of autosomal dominant inheritance
- (1993) J. Med. Genet. , vol.30 , pp. 683-686
- Lynch, S.A.¹ Gaunt, M.L.² Minford, A.M.B.³

15
- 0024306690
- Acampomelic campomelic dysplasia
- (1989) Pediatr. Radiol. , vol.20 , pp. 90-93
- Macpherson, R.I.¹ Skinner, S.A.² Donnenfeld, A.E.³

16
- 0015236288
- Le syndrome camptomélique
- (1971) Presse Med. , vol.22 , pp. 1157-1162
- Maroteaux, P.¹ Spranger, J.W.² Opitz, J.M.³ Kucera, J.⁴ Lowry, R.B.⁵ Schimke, R.N.⁶ Kagan, S.M.⁷

17
- 0003436550
- Baltimore, London, The Johns Hopkins University Press
- (1990) th Edition , pp. 1074-1075
- Mckusick, V.A.¹ Francomano, C.A.² Antonorakis, S.E.³

18
- 0030922464
- The scapula as a window to the diagnosis of skeletal dysplasias
- (1997) Pediatr. Radiol. , vol.27 , pp. 447-451
- Mortier, G.R.¹ Rimoin, D.L.² Lachman, R.S.³

19
- 0028876934
- Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation
- (1995) Am. J. Med. Genet. , vol.56 , pp. 31-34
- Ninomiya, S.¹ Narahara, K.² Tsuji, K.³ Yokoyama, Y.⁴ Ito, S.⁵ Seino, Y.⁶

20
- 0031865003
- Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype
- (1998) J. Med. Genet. , vol.35 , pp. 597-599
- Savarirayan, R.¹ Bankier, A.²

21
- 0034726693
- Acampomelic campomelic dysplasia with SOX 9 mutation
- (2000) Am. J. Med. Genet. , vol.93 , pp. 421-425
- Thong, M.K.¹ Scherer, G.² Kozlowski, K.³ Haan, E.⁴ Morris, L.⁵

22
- 0015680382
- Familial campomelic dwarfism
- (1973) J. Pediatr. , vol.83 , pp. 841-843
- Thurmon, T.F.¹ Defraites, E.B.² Anderson, E.E.³

23
- 0028589588
- Autosomal sex reversal and campomelic dysplasia are caused by mutations in and arround the SRY-related gene SOX 9
- (1994) Cell , vol.79 , pp. 1111-1120
- Wagner, T.¹ Wirth, J.² Meyer, J.³ Zabel, B.⁴ Held, M.⁵ Zimmer, J.⁶ Pasantes, J.⁷ Bricarelli, F.D.⁸ Keutel, J.⁹ Hustert, E.¹⁰ Wolf, U.¹¹ Tommerup, N.¹² Schempp, W.¹³ Scherer, G.¹⁴

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.