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American Journal of Medical Genetics

Volumn 104, Issue 1, 2001, Pages 79-80

Inherited duplication, dup (8) (p23.1p23.1) pat, in a father and daughter with congenital heart defects

(4) Kennedy, Shelley J a Teebi, Ahmad S a Adatia, Ian a Teshima, Ikuko a

a HOSPITAL FOR SICK CHILDREN (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME 8P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MAPPING; HUMAN; LETTER; MALE; PRIORITY JOURNAL;

ADOLESCENT; CHROMOSOMES, HUMAN, PAIR 8; FATHER-CHILD RELATIONS; FEMALE; GENE DUPLICATION; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MOSAICISM;

EID: 0035889325 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/1096-8628(20011115)104:1<79::AID-AJMG1598>3.0.CO;2-T Document Type: Letter

Times cited : (22)

References (8)

1
- 17344370150
- Duplication of 8p23.1: A cytogenetic anomaly with no established clinical significance
- (1998) J Med Genet , vol.35 , pp. 491-496
- Barber, J.C.K.¹ Joyce, C.A.² Collison, M.N.³ Nicholson, J.C.⁴ Willatt, L.R.⁵ Dyson, H.M.⁶ Bateman, M.S.⁷ Green, A.J.⁸ Yates, J.R.W.⁹ Dennis, N.R.¹⁰

2
- 0032836994
- Prenatal detection and mapping of a distal 8p deletion associated with congenital heart disease
- (1999) Prent Diagn , vol.19 , pp. 863-867
- Bhatia, S.N.¹ Suri, V.² Bundy, A.³ Krauss, C.M.⁴

3
- 0032958434
- Duplication of 8p with minimal phenotypic effect transmitted from a mother to her two daughters
- (1999) J Med Genet , vol.36 , pp. 419-422
- Gibbons, B.¹ Tan, S.Y.² Barber, J.C.K.³ Ng, C.F.⁴ Knight, L.A.⁵ Lam, S.⁶ Ng, I.⁷

4
- 0034713818
- Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects
- (2000) Circulation , vol.102 , pp. 432-437
- Giglio, S.¹ Graw, S.L.² Gimelli, G.³ Pirola, B.⁴ Varone, P.⁵ Voullaire, L.⁶ Lerzo, F.⁷ Ross, E.⁸ Dellavecchia, C.⁹ Bonaglia, M.C.¹⁰ Digilio, M.C.¹¹ Giannotti, A.¹² Marino, B.¹³ Carrozzo, R.¹⁴ Korenberg, J.R.¹⁵ Danesino, C.¹⁶ Sujansky, E.¹⁷ Dallapiccola, B.¹⁸ Zuffardi, O.¹⁹

5
- 0026772983
- Distal 8p deletion (8p23.18pter): A common deletion?
- (1992) J Med Genet , vol.20 , pp. 407-411
- Hutchinson, R.¹ Wilson, M.² Voullarie, L.³

6
- 0032231397
- Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter
- (1998) Am J Hum Genet , vol.63 , pp. 541-546
- Jackson, A.P.¹ McHale, D.P.² Campbell, D.A.³ Jafri, H.⁴ Rashid, Y.⁵ Mannan, J.⁶ Karbani, G.⁷ Corry, P.⁸ Leven, M.I.⁹ Mueller, R.F.¹⁰ Markham, A.F.¹¹ Lench, N.J.¹² Woods, C.G.¹³

7
- 0028283186
- Transcription factor GATA-4 regulates cardiac muscle-specific expression of the alphamyosin heavy-chain gene
- (1994) Mol Cell Biol , vol.14 , pp. 4947-4957
- Molkentin, J.D.¹ Kalvakolanu, D.V.² Markham, B.E.³

8
- 0033582940
- GATA-4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease
- (1999) Am J Med Jenet , vol.83 , pp. 201-206
- Pehlivan, T.¹ Pober, Br.² Brueckner, M.³ Garrett, S.⁴ Slaugh, R.⁵ Van Rheeden, R.⁶ Wilson, D.B.⁷ Watson, M.S.⁸ Hing, A.V.⁹

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.