SCOPUS 정보 검색 플랫폼

Volumn 95, Issue 2, 2000, Pages 99-104

Non-syndromic mental retardation segregating with an apparently balanced t(1;17) reciprocal translocation through three generations

(7) Hussain, S Z a Evans, A L b Ahmed, O A a Jones, D b McDermot, K D c Svennevik, E C d Hastings, R J d,e

a ROYAL FREE HOSPITAL (United Kingdom)

b UNIVERSITY OF LONDON (United Kingdom)

c ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL (United Kingdom)

d UNIVERSITY COLLEGE LONDON HOSPITALS (United Kingdom)

e GREAT ORMOND STREET HOSPITAL (United Kingdom)

Author keywords

Chromosome 1; Chromosome 17; Familial t(1; 17) translocation; Psychomotor developmental delay

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BEHAVIOR DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COORDINATION; FEMALE; HUMAN; LEARNING DISORDER; MALE; MENTAL DEFICIENCY; MUSCLE TONE; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; RECIPROCAL CHROMOSOME TRANSLOCATION; SOCIAL ADAPTATION;

EID: 0034645511 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/1096-8628(20001113)95:2<99::AID-AJMG2>3.0.CO;2-2 Document Type: Article

Times cited : (4)

References (23)

1
- 0032580161
- Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
- (1998) Nature , vol.392 , pp. 923-926
- Billuart, P.¹ Bienvenu, T.² Ronce, N.³ Des Portes, V.⁴ Vinet, M.C.⁵ Zemni, R.⁶ Cherry, M.⁷ Briault, S.⁸ Hamel, B.⁹ Fryns, J.-P.¹⁰ Beldjord, C.¹¹ Kahn, A.¹² Moraine, C.¹³ Chelly, J.¹⁴

2
- 0027417311
- Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3
- (1993) Am J Hum Genet , vol.52 , pp. 249-254
- Bruening, M.H.¹ Dauwerse, H.G.² Fugazza, G.³ Saris, J.J.⁴ Spruit, L.⁵ Wijnen, H.⁶ Tommerup, N.⁷ Van der Hagen, C.B.⁸ Imaizumi, K.⁹ Kuroki, Y.¹⁰ Van den Boogaard, M.-J.¹¹ De Pater, J.M.¹² Mariman, E.C.M.¹³ Hamel, B.C.J.¹⁴ Himmelbauer, H.¹⁵ Frischauf, A.-M.¹⁶ Stallings, R.L.¹⁷ Beverstock, G.C.¹⁸ Van Ommen, G.-J.B.¹⁹ Hennekam, R.C.M.²⁰ more..

3
- 0030881588
- Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
- (1997) Nat Genet , vol.17 , pp. 154-163
- Chen, K.-S.¹ Manian, P.² Koeuth, T.³ Potocki, L.⁴ Zhao, Q.⁵ Chinault, A.C.⁶ Lee, C.C.⁷ Lupski, J.R.⁸

4
- 0027185655
- Hemizygosity at the elastin locus in a developmental disorder. Williams syndrome
- (1993) Nat Genet , vol.5 , pp. 11-16
- Ewart, A.K.¹ Morris, C.A.² Atkinson, D.³ Jin, W.⁴ Sternes, K.⁵ Spallone, P.⁶ Stock, A.D.⁷ Leppert, M.⁸ Keating, M.T.⁹

5
- 0028798545
- The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
- (1995) Nat Genet , vol.9 , pp. 132-140
- Flint, J.¹ Wilkie, A.O.² Buckle, V.J.³ Winter, R.M.⁴ Holland, A.J.⁵ McDermid, H.E.⁶

6
- 0027256723
- Cosegregation of balanced translocation (1;2) with retarded speech development and dyslexia
- (1993) Lancet , vol.342 , pp. 178-179
- Froster, U.¹ Schulte-Korne, G.² Hebebrand, J.³ Remschmidt, H.⁴

7
- 0001652137
- Chromosome abnormalities and genetic counselling
- (1996) Oxf Monogr Med Genet , vol.29
- Gardner, R.J.M.¹ Sutherland, G.R.²

8
- 0029920807
- Multi-disciplinary study of Smith-Magenis syndrome
- (1996) Am J Med Genet , vol.62 , pp. 247-254
- Greenberg, F.¹ Lewis, R.A.² Potocki, L.³ Glaze, D.⁴ Parke, J.⁵ Killian, J.⁶ Murphy, M.A.⁷ Williamson, D.⁸ Brown, F.⁹ Dutton, R.¹⁰ McCluggage, C.¹¹ Friedman, E.¹² Sulek, M.¹³ Lupski, J.R.¹⁴

9
- 0007709582
- Structural rearrangements of the chromosomes in man
- Hook EB, Porter IH, editors. Population cytogenetics. New York: Academic Press
- (1977) , pp. 81-97
- Jacobs, P.A.¹

10
- 0031714587
- Molecular characterization and delineation of subtle deletions in de novo 'balanced' chromosomal rearrangements
- (1998) Hum Genet , vol.103 , pp. 173-178
- Kumar, A.¹ Becker, L.A.² Depinet, T.W.³ Haren, J.M.⁴ Kurtz, C.L.⁵ Robin, N.H.⁶ Casidy, S.R.⁷ Wolff, D.J.⁸ Schwartz, S.⁹

11
- 0033515499
- XLMR genes: Update 1998
- (1999) Am J Med Genet , vol.83 , pp. 237-247
- Lubs, H.¹ Chiurazzi, P.² Arena, J.³ Schwartz, L.⁴ Tranebjaerg, L.⁵ Neri, G.⁶

12
- 0032533274
- Molecular cloning, localization, and developmental expression of mouse brain finger protein (Bfp)/ ZNF179: Distributrion of bfp mRNA partially coincides with the affected areas of Smith-Magenis syndrome
- (1998) Genomics , vol.54 , pp. 59-69
- Orimo, A.¹ Inoue, S.² Ikeda, K.³ Sato, M.⁴ Kato, A.⁵ Tominaga, N.⁶ Suzuki, M.⁷ Noda, T.⁸ Wantanabe, M.⁹ Muramatsu, M.¹⁰

13
- 0022446922
- Cytogenetic analysis using quantitative high sensitivity fluorescence hybridisation
- (1986) Proc Natl Acad Sci USA , vol.83 , pp. 2934-2938
- Pinkel, D.¹ Straume, T.² Gray, J.W.³

14
- 0028861983
- Partial monosomy of chromosome 1p36.3: Characterization of the critical region and delineation of a syndrome
- (1995) Am J Med Genet , vol.59 , pp. 467-475
- Reish, O.¹ Berry, S.A.² Hirsch, B.³

15
- 0003429362
- Oxford: IRL Press
- (1992) Human Cytogenetics, A Practical Approach , vol.2
- Rooney, D.E.¹ Czepulkowski, B.H.²

16
- 0003595868
- Sidcup Kent: The Psychological Corporation
- (1993) Wechsler objective reading dimensions manual
- Rust, J.¹ Gulombok, S.² Trickey, G.³

17
- 0033557452
- Transcription mapping in a medulloblastoma breakpoint interval and Smith-Magenis sydrome candidate region: Identification of 53 transcriptional units and new candidate genes
- (1999) Genomics , vol.56 , pp. 1-11
- Seranski, P.¹ Heiss, N.S.² Dhorne-Pollet, S.³ Radelof, U.⁴ Korn, B.⁵ Hennig, S.⁶ Backes, E.⁷ Schmidt, S.⁸ Wiemann, S.⁹ Schwarz, C.E.¹⁰ Lehrach, H.¹¹ Poustka, A.¹²

18
- 0030870848
- Chromosome lp36 deletions: The clinical phenotype and molecular characterization of a common newly delineated syndrome
- (1997) Am J Hum Genet , vol.61 , pp. 642-650
- Shapira, S.K.¹ Mc Caskill, C.² Northrup, H.³ Spikes, A.S.⁴ Elder, F.F.⁵ Sutton, V.R.⁶ Korenberg, J.R.⁷ Greenberg, F.⁸ Shaffer, L.G.⁹

19
- 0025277392
- Association within the family of a balanced autosomal translocation with major mental illness
- (1990) Lancet , vol.336 , pp. 13-16
- St. Clair, D.¹ Blackwood, D.² Muir, W.³ Carothers, A.⁴ Walker, M.⁵ Spowart, G.⁶ Gosden, C.⁷ Evans, H.J.⁸

20
- 0032707125
- Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14)
- (1999) Am J Med Genet , vol.87 , pp. 189-194
- De Vries, B.B.A.¹ Eussen, B.H.J.² Van Diggelen, O.P.³ Van der Heide, A.⁴ Deelan, W.H.⁵ Govaerts, L.C.P.⁶ Lindhout, D.⁷ Wouters, C.H.⁸ Van Hemel, J.O.⁹

21
- 0003441705
- Sidcup, Kent: The Psychological Corporation
- (1986) Wechsler adult intelligence scale-revised U.K. edition
- Wechsler, D.¹

22
- 0007678144
- Sidcup, Kent: The Pyschological Corporation
- (1990) Wechsler adult intelligence scale of intelligence-revised U.K. edition
- Wechsler, D.¹

23
- 0003441705
- London: The Psychological Corporation
- (1992) Wechsler intelligence scale for children-3rd U.K. edition
- Wechsler, D.¹

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.