SCOPUS 정보 검색 플랫폼

Volumn 101, Issue 3, 2001, Pages 240-245

Brief clinical report: Characterization of a long-term survivor with stüve-wiedemann syndrome and mosaicism of a supernumerary marker chromosome

(4) Chen, Emily a Cotter, Philip D a Cohen, Ronald A a Lachman, Ralph S b

a CHILDREN S HOSPITAL OAKLAND (United States)

b UNIVERSITY OF CALIFORNIA (United States)

Author keywords

Camptomelia; Chromosome 5; Skeletal dysplasia; St ve Wiedemann syndrome; Super numerary marker chromosome

Indexed keywords

AMNION CELL; ARTICLE; CASE REPORT; CHROMOSOME 5; CHROMOSOME MOSAICISM; CLINICAL FEATURE; CORNEA REFLEX; CYTOGENETICS; FEMALE; HUMAN; NEWBORN; PRIORITY JOURNAL; SCOLIOSIS; SKIN PIGMENTATION; STUVE WIEDEMANN SYNDROME; SUPERNUMERARY CHROMOSOME; SURVIVAL RATE; SYNDROME DELINEATION; CHILD; CHONDRODYSPLASIA; CHROMOSOME ABERRATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; MOSAICISM; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; RESPIRATORY FAILURE; SURVIVOR;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 5; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MOSAICISM; OSTEOCHONDRODYSPLASIAS; RESPIRATORY INSUFFICIENCY; SURVIVORS;

EID: 0035400130 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/ajmg.1382 Document Type: Article

Times cited : (27)

References (15)

1
- 0020957757
- Congenital sensory neuropathy with skeletal dysplasia
- (1983) J Pediatr , vol.102 , pp. 727-730
- Axelrod, F.B.¹ Pearson, J.² Tepperberg, J.³ Ackerman, B.D.⁴

2
- 4243686190
- Supernumerary marker chromosome easily identified by multicolor FISH
- (1999) Cytogenet Cell Genet , vol.85
- Brandt, C.A.¹ Cruger, D.² Pedersen, C.B.³ Djernes, B.⁴ Bruun-Petersen, G.⁵

3
- 0030744320
- Genetic heterogeneity in Schwartz-Jampel syndrome: Two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1
- (1997) J Med Genet , vol.34 , pp. 685-687
- Brown, K.A.¹ Al-Gazali, L.I.² Moynihan, L.M.³ Lench, N.J.⁴ Markham, A.F.⁵ Mueller, R.F.⁶

4
- 0030612874
- Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain
- (1997) Am J Med Genet , vol.72 , pp. 222-226
- Chabrol, B.¹ Sigaudy, S.² Paquis, V.³ Montfort, M.F.⁴ Giudicelli, H.⁵ Pellissier, J.F.⁶ Millet, V.⁷ Mancini, J.⁸ Philip, N.⁹

5
- 0031593875
- Presentation of six cases of Stüve-Wiedemann syndrome
- (1998) Pediatr Radiol , vol.28 , pp. 776-780
- Cormier-Daire, V.¹ Munnich, A.² Lyonnet, S.³ Rustin, P.⁴ Delezoide, A.L.⁵ Maroteaux, P.⁶ Le Merrer, M.⁷

6
- 0032580788
- Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2
- (1998) Am J Med Genet , vol.78 , pp. 146-149
- Cormier-Daire, V.¹ Superti-Furga, A.² Munnich, A.³ Lyonnet, S.⁴ Rustin, P.⁵ Delezoide, A.L.⁶ DeLonlay, P.⁷ Giedion, A.⁸ Maroteaux, P.⁹ Le Merrer, M.¹⁰

7
- 0032477780
- FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22. I. Results of 26 new cases
- (1998) Am J Med Genet , vol.75 , pp. 355-366
- Crolla, J.A.¹ Long, F.² Rivera, H.³ Dennis, N.R.⁴

8
- 0028968840
- A search for uniparental disomy in carriers of supernumerary marker chromosomes
- (1995) Eur J Hum Genet , vol.3 , pp. 21-26
- James, R.S.¹ Temple, I.K.² Dennis, N.R.³ Crolla, J.A.⁴

9
- 0029666388
- Stüve-Wiedemann dysplasia in a 31/2-year old boy
- (1996) Am J Med Genet , vol.63 , pp. 17-19
- Kozlowski, K.¹ Tenconi, R.²

10
- 4243581824
- The Cytocell Multiprobe FISH kit: An Auckland experience
- (1998) Bull Hum Genet Sec Australasia , vol.11
- Oei, P.T.S.P.¹ Winship, I.²

11
- 0034597369
- Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease
- (2000) Amer J Med Genet , vol.94 , pp. 287-295
- Spranger, J.¹ Hall, B.D.² Hane, B.³ Srivastava, R.E.⁴

12
- 0015243570
- Congenital bowing of the long bones in two sisters
- (1971) Lancet , vol.2 , pp. 495
- Stüve, A.¹ Wiedemann, H.R.²

13
- 0034011451
- Identification of supernumerary marker chromosomes derived from chromosome 5, 6, 19, and 20 using FISH
- (2000) J Med Genet , vol.37 , pp. 114-120
- Stankiewicz, P.¹ Bocian, E.² Jakubow-Durska, K.³ Obersztyn, E.⁴ Lato, E.⁵ Starke, H.⁶ Mroczek, K.⁷ Mazurczak, T.⁸

14
- 0032581120
- Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: A case for "lumping"
- (1998) Am J Med Genet , vol.78 , pp. 150-154
- Superti-Furga, A.¹ Tenconi, R.² Clementi, M.³ Eich, G.⁴ Steinmann, B.⁵ Boltshauser, E.⁶ Giedion, A.⁷

15
- 2842536025
- Stüve-Wiedemann syndrome: Update and historical footnote
- (1996) Am J Med Genet , vol.63 , pp. 12-16
- Wiedemann, H.R.¹ Stüve, A.²

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.