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American Journal of Medical Genetics

Volumn 91, Issue 3, 2000, Pages 201-203

First clinical case of small de novo duplication of 19q (13.3-13.4) confirmed by FISH

(6) Bhat, M a Morrison, P J a Getty, A a McManus, D a Tubman, R b Nevin, N C a

a ROYAL GROUP OF HOSPITALS TRUST (United Kingdom)

b ROYAL MATERNITY HOSPITAL (United Kingdom)

Author keywords

Chromosome 19; Duplication; Partial trisomy

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 19Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; EAR MALFORMATION; FACE MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INFANT; MALE; MOUTH MALFORMATION; PARTIAL TRISOMY; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 19; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE; TRISOMY;

EID: 0034019736 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/(SICI)1096-8628(20000320)91:3<201::AID-AJMG9>3.0.CO;2-Y Document Type: Article

Times cited : (19)

References (8)

1
- 0026593524
- Duplication of distal 19q: Clinical report and review
- Boyd E, Grass FS, Parke JC, Knutson K, Stevenson RE. 1992. Duplication of distal 19q: Clinical report and review. Am J Med Genet 42:326-330.
- (1992) Am J Med Genet , vol.42 , pp. 326-330
- Boyd, E.¹ Grass, F.S.² Parke, J.C.³ Knutson, K.⁴ Stevenson, R.E.⁵

2
- 0030838944
- Prenatal detection and molecular characterization of a de novo duplication of the distal long arm of chromosome 19
- Cotter PD, McCurdy LD, Gershin IF, Babu A, Willner JP, Desnick RJ. 1997. Prenatal detection and molecular characterization of a de novo duplication of the distal long arm of chromosome 19. Am J Med Genet 71:325-328.
- (1997) Am J Med Genet , vol.71 , pp. 325-328
- Cotter, P.D.¹ McCurdy, L.D.² Gershin, I.F.³ Babu, A.⁴ Willner, J.P.⁵ Desnick, R.J.⁶

3
- 0029658244
- A 3 1/2 year old girl with distal trisomy 19q defined by FISH
- James C, Jauch A, Robson L, Watson N, Smith A. 1996. A 3 1/2 year old girl with distal trisomy 19q defined by FISH. J Med Genet 33:795-797.
- (1996) J Med Genet , vol.33 , pp. 795-797
- James, C.¹ Jauch, A.² Robson, L.³ Watson, N.⁴ Smith, A.⁵

4
- 0031554756
- Arthritis associated with deletion of 22q 11.2: More common than previously suspected
- Keenan GF, Sullivan KE, McDonald-McGinn DM, Zackai EH. 1997. Arthritis associated with deletion of 22q 11.2: more common than previously suspected. Am J Med Genet 71:488.
- (1997) Am J Med Genet , vol.71 , pp. 488
- Keenan, G.F.¹ Sullivan, K.E.² McDonald-McGinn, D.M.³ Zackai, E.H.⁴

5
- 0017111078
- Trisomy 19q
- Lange M, Alfi OS. 1976. Trisomy 19q. Ann Génét 19:17-21.
- (1976) Ann Génét , vol.19 , pp. 17-21
- Lange, M.¹ Alfi, O.S.²

6
- 0021844688
- 19q distal trisomy due to a de novo (19:22) (q13.2;p11) translocation
- Rivas F, Garcia-Cruz D, Rivera H, Plascencia ML, Gonzalez RM, Cantu JM. 1985. 19q distal trisomy due to a de novo (19:22) (q13.2;p11) translocation. Ann Génét 28:113-115.
- (1985) Ann Génét , vol.28 , pp. 113-115
- Rivas, F.¹ Garcia-Cruz, D.² Rivera, H.³ Plascencia, M.L.⁴ Gonzalez, R.M.⁵ Cantu, J.M.⁶

7
- 0342598408
- Dup (19) (q13.3-qter)
- Baraitser M, Winter RM, editors. v1.0. Oxford Medical Databases: Cytogenetics. Oxford: Oxford University Press
- Schinzel A. 1994. Dup (19) (q13.3-qter). In: Baraitser M, Winter RM, editors. The human cytogenetics database HCDB v1.0. Oxford Medical Databases: Cytogenetics. Oxford: Oxford University Press.
- (1994) The Human Cytogenetics Database HCDB
- Schinzel, A.¹

8
- 0020025682
- Distal 19q duplication
- Zonana J, Brown MG, Magenis RE. 1982. Distal 19q duplication. Hum Genet 60:267-270.
- (1982) Hum Genet , vol.60 , pp. 267-270
- Zonana, J.¹ Brown, M.G.² Magenis, R.E.³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.