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Volumn 140 A, Issue 4, 2006, Pages 385-387

Novel clinical features in a child with partial deletion of chromosome 11 [del(11)(q24.2)]: Further evidence for phenotypic heterogeneity [1]

(8) Giampietro, Philip F a,b Babu, Deepti a,f Zabel, Carrie A a Silberman, Teresa b Zador, Ivan b DeBauche, David c Ravnan, J Britt d Dave, Bhavana J e

a Department of Medical Genetic Services ^* (United States)

b MARSHFIELD CLINIC (United States)

c Genzyme Genetics (United States)

d Genzyme Genetics (United States)

e UNIVERSITY OF NEBRASKA MEDICAL CENTER (United States)

f UNIVERSITY OF ALBERTA (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ALLELE; BONE DENSITY; CASE REPORT; CHROMOSOME 11; CHROMOSOME DELETION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DIAGNOSTIC TEST; DUAL ENERGY X RAY ABSORPTIOMETRY; FEMALE; FRACTURE; GENETIC HETEROGENEITY; HUMAN; LETTER; OSTEOPENIA; OSTEOPOROSIS; PERCEPTION DEAFNESS; PHENOTYPIC VARIATION; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; BONE DISEASES, METABOLIC; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; FEMALE; FETAL GROWTH RETARDATION; HEARING LOSS; HEART SEPTAL DEFECTS, VENTRICULAR; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; PHENOTYPE;

EID: 32444448774 PISSN: 15524825 EISSN: None Source Type: Journal
DOI: 10.1002/ajmg.a.31067 Document Type: Letter

Times cited : (9)

References (5)

1
- 0036844002
- Genomewide linkage analysis of body mass index across 28 years of the Framingham Heart Study
- Atwood LD, Heard-Costa NL, Cupples LA, Jaquish CE, Wilson PW, D'Agostino RB. 2002. Genomewide linkage analysis of body mass index across 28 years of the Framingham Heart Study. Am J Hum Genet 71:1044-1050.
- (2002) Am J Hum Genet , vol.71 , pp. 1044-1050
- Atwood, L.D.¹ Heard-Costa, N.L.² Cupples, L.A.³ Jaquish, C.E.⁴ Wilson, P.W.⁵ D'Agostino, R.B.⁶

2
- 3342974500
- The 11q terminal deletion disorder: A prospective study of 110 cases
- Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, Jones C. 2004. The 11q terminal deletion disorder: A prospective study of 110 cases. Am J Med Genet Part A 129A:51-61.
- (2004) Am J Med Genet Part A , vol.129 A , pp. 51-61
- Grossfeld, P.D.¹ Mattina, T.² Lai, Z.³ Favier, R.⁴ Jones, K.L.⁵ Cotter, F.⁶ Jones, C.⁷

3
- 0015707559
- An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study
- Jacobsen P, Hauge M, Henningsen K, Hobolth N, Mikkelsen M, Philip J. 1973. An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study. Hum Hered 23:568-585.
- (1973) Hum Hered , vol.23 , pp. 568-585
- Jacobsen, P.¹ Hauge, M.² Henningsen, K.³ Hobolth, N.⁴ Mikkelsen, M.⁵ Philip, J.⁶

4
- 0033028072
- DFNB20: A novel locus for autosomal recessive, non-syndromal sensorineural hearing loss maps to chromosome 11q25-qter
- Moynihan L, Houseman M, Newton V, Mueller R, Lench N. 1999. DFNB20: A novel locus for autosomal recessive, non-syndromal sensorineural hearing loss maps to chromosome 11q25-qter. Eur J Hum Genet 7:243-246.
- (1999) Eur J Hum Genet , vol.7 , pp. 243-246
- Moynihan, L.¹ Houseman, M.² Newton, V.³ Mueller, R.⁴ Lench, N.⁵

5
- 0028910140
- Clinical and molecular characterization of patients with distal 11q deletions
- Penny LA, Dell'Aquila M, Jones MC, Bergoffen J, Cunniff C, Fryns JP, Grace E, Graham JM Jr, Kousseff B, Mattina T, Syme J, Voullaire L, Zelante L, Zenger-Hain J, Jones OW, Evans GA. 1995. Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet 56:676-683.
- (1995) Am J Hum Genet , vol.56 , pp. 676-683
- Penny, L.A.¹ Dell'Aquila, M.² Jones, M.C.³ Bergoffen, J.⁴ Cunniff, C.⁵ Fryns, J.P.⁶ Grace, E.⁷ Graham Jr., J.M.⁸ Kousseff, B.⁹ Mattina, T.¹⁰ Syme, J.¹¹ Voullaire, L.¹² Zelante, L.¹³ Zenger-Hain, J.¹⁴ Jones, O.W.¹⁵ Evans, G.A.¹⁶

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.