SCOPUS 정보 검색 플랫폼

Genetic Testing

Volumn 5, Issue 2, 2001, Pages 135-138

Compound heterozygosity at the FMR1 gene

(6) Hegde, Madhuri R a,b Fawkner, Matthew a,b Love, Donald R a,b Chong, Belinda b McGaughran, Julie b Gilbert, Dale b

a UNIVERSITY OF AUCKLAND (New Zealand)

b AUCKLAND CITY HOSPITAL (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; GENE PRODUCT; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ARTICLE; CASE REPORT; CYTOGENETICS; EXTRACHROMOSOMAL INHERITANCE; FAMILY STUDY; FEMALE; FRAGILE X SYNDROME; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC RISK; HETEROZYGOTE; HUMAN; INHERITANCE; MENTAL DEFICIENCY; NEWBORN; NUCLEOTIDE REPEAT; RISK ASSESSMENT;

DNA MUTATIONAL ANALYSIS; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; NERVE TISSUE PROTEINS; PEDIGREE; PENETRANCE; POLYMERASE CHAIN REACTION; RNA-BINDING PROTEINS; TRINUCLEOTIDE REPEATS; X CHROMOSOME;

EID: 0034875761 PISSN: 10906576 EISSN: None Source Type: Journal
DOI: 10.1089/109065701753145600 Document Type: Article

Times cited : (5)

References (18)

1
- 0033912299
- Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations
- (2000) Am. J. Hum. Genet. , vol.66 , pp. 413-418
- Hundscheid, R.D.¹ Sistermans, E.A.² Thomas, C.M.³ Braat, D.D.⁴ Straatman, H.⁵ Kiemeney, L.A.⁶ Oostra, B.A.⁷ Smits, A.P.⁸

2
- 0021107062
- Institutional prevalence of fragile X syndrome
- (1983) Lancet , vol.2 , pp. 1427
- Kinnell, H.G.¹ Banu, S.P.²

3
- 0033515685
- Compound heterozygous female with fragile X syndrome
- (1999) Am. J. Med. Genet. , vol.83 , pp. 318-321
- Linden, M.G.¹ Tassone, F.² Gane, L.W.³ Hills, J.L.⁴ Hagerman, R.J.⁵ Taylor, A.K.⁶

4
- 0028237301
- Prenatal diagnosis in known fragile X carriers
- (1994) Am. J. Med. Genet. , vol.51 , pp. 490-496
- Maddalena, A.¹ Hicks, B.D.² Spence, W.C.³ Levinson, G.⁴ Howard-Peebles, P.N.⁵

5
- 0029790614
- A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion
- (1996) Hum. Genet. , vol.98 , pp. 419-421
- Mila, M.¹ Castellvi-Bel, S.² Gine, R.³ Vazquez, C.⁴ Badenas, C.⁵ Sanchez, A.⁶ Estivill, X.⁷

6
- 0031025986
- Fragile X syndrome is less common than previously estimated
- (1997) J. Med. Genet. , vol.34 , pp. 1-5
- Morton, J.E.¹ Bundey, S.² Webb, T.P.³ Macdonald, F.⁴ Rindl, P.M.⁵ Bullock, S.⁶

7
- 0034128910
- Reproductive and menstrual history of females with fragile X expansions
- (2000) Eur. J. Hum. Genet. , vol.8 , pp. 247-252
- Murray, A.¹ Ennis, S.² Macswiney, F.³ Webb, J.⁴ Morton, N.E.⁵

8
- 0025833298
- Absence of expression of the FMR-1 gene in fragile X syndrome
- (1991) Cell , vol.66 , pp. 817-822
- Pieretti, M.¹ Zhang, F.² Fu, Y.-H.³ Warren, S.T.⁴ Oostra, B.A.⁵ Caskey, C.T.⁶ Nelson, D.L.⁷

9
- 0029934243
- Informed choice in fragile X syndrome and its effects on prevalence
- (1996) Am. J. Med. Genet. , vol.64 , pp. 198-202
- Robinson, H.¹ Wake, S.² Wright, F.³ Laing, S.⁴ Turner, G.⁵

10
- 0031785622
- An unusual fragile X sibship: Female compound heterozygote and male with a partially methylated full mutation
- (1998) Clin. Genet. , vol.54 , pp. 309-314
- Russo, S.¹ Briscioli, V.² Cogliati, F.³ Macchi, M.⁴ Lalatta, F.⁵ Larizza, L.⁶

11
- 0018379975
- Heritable fragile sites on human chromosomes II. Distribution, phenotypic effects, and cytogenetics
- (1979) Am. J. Hum. Genet. , vol.31 , pp. 136-148
- Sutherland, G.R.¹

12
- 0031905341
- FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population
- (1998) Genet. Epidemiol. , vol.15 , pp. 103-109
- Syrrou, M.¹ Georgiou, I.² Grigoriadou, M.³ Petersen, M.B.⁴ Kitsiou, S.⁵ Pagoulatos, G.⁶ Patsalis, P.C.⁷

13
- 0034016083
- Clinical involvement and protein expression in individuals with the FMR1 premutation
- (2000) Am. J. Med. Genet. , vol.91 , pp. 144-152
- Tassone, F.¹ Hagerman, R.J.² Taylor, A.K.³ Mills, J.B.⁴ Harris, S.W.⁵ Gane, L.W.⁶ Hagerman, P.J.⁷

14
- 84942951309
- Molecular predictors of cognitive involvement in female carriers of fragile X syndrome
- (1994) J. Am. Med. Assn. , vol.271 , pp. 507-514
- Taylor, A.K.¹ Safanda, J.F.² Fall, M.Z.³ Quince, C.⁴ Lang, K.A.⁵ Hull, C.E.⁶ Carpenter, I.⁷ Staley, L.W.⁸ Hagerman, R.J.⁹

15
- 0029924873
- Prevalence of fragile X syndrome
- (1996) Am. J. Med. Genet. , vol.64 , pp. 196-197
- Turner, G.¹ Webb, T.² Wake, S.³ Robinson, H.⁴

16
- 0027514825
- Trinucleotide repeat expansions in neurological disease
- (1993) Curr. Opin. Neurobiol. , vol.3 , pp. 752-759
- Warren, S.T.¹ Nelson, D.L.²

17
- 0025849168
- Prevalence of fragile X syndrome
- (1991) J. Med. Genet. , vol.28 , pp. 358
- Webb, T.¹ Bundey, S.²

18
- 0034130169
- FRAXA and FRAXE: The results of a five year survey
- (2000) J. Med. Genet. , vol.37 , pp. 415-421
- Youings, S.A.¹ Murray, A.² Dennis, N.³ Ennis, S.⁴ Lewis, C.⁵ McKechnie, N.⁶ Pound, M.⁷ Sharrock, A.⁸ Jacobs, P.⁹

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