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Literature DB >> 1974122

The fragile X: progress toward solving the puzzle.

W T Brown¹.

Abstract

Entities: Disease

Mesh：

Year: 1990 PMID： 1974122 PMCID： PMC1683734

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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31 in total

1. Microdissection of the fragile X region.

Authors: R N MacKinnon; M C Hirst; M V Bell; J E Watson; U Claussen; H J Ludecke; G Senger; B Horsthemke; K E Davies
Journal: Am J Hum Genet Date: 1990-08 Impact factor: 11.025

2. New polymorphic DNA marker close to the fragile site FRAXA.

Authors: B A Oostra; P E Hupkes; L F Perdon; C A van Bennekom; E Bakker; D J Halley; M Schmidt; D Du Sart; A Smits; B Wieringa
Journal: Genomics Date: 1990-01 Impact factor: 5.736

3. Physical and genetic mapping of polymorphic loci in Xq28 (DXS15, DXS52, and DXS134): analysis of a cosmid clone and a yeast artificial chromosome.

Authors: R Feil; G Palmieri; M d'Urso; R Heilig; I Oberlé; J L Mandel
Journal: Am J Hum Genet Date: 1990-04 Impact factor: 11.025

4. The polymorphic marker DXS304 is within 5 centimorgans of the fragile X locus.

Authors: A Vincent; N Dahl; I Oberlé; A Hanauer; J L Mandel; H Malmgren; U Pettersson
Journal: Genomics Date: 1989-11 Impact factor: 5.736

5. Mental retardation in heterozygotes for the fragile-X mutation: evidence in favor of an X inactivation-dependent effect.

Authors: M Rocchi; N Archidiacono; A Rinaldi; G Filippi; G Bartolucci; G S Fancello; M Siniscalco
Journal: Am J Hum Genet Date: 1990-04 Impact factor: 11.025

6. Methylation status of genes flanking the fragile site in males with the fragile-X syndrome: a test of the imprinting hypothesis.

Authors: M M Khalifa; A L Reiss; B R Migeon
Journal: Am J Hum Genet Date: 1990-04 Impact factor: 11.025

7. Toward a physical map of the Xq28 region in man: linking color vision, G6PD, and coagulation factor VIII genes to an X-Y homology region.

Authors: B Arveiler; A Vincent; J L Mandel
Journal: Genomics Date: 1989-05 Impact factor: 5.736

8. Genetic and physical mapping of a novel region close to the fragile X site on the human X chromosome.

Authors: M N Patterson; M V Bell; J Bloomfield; T Flint; H Dorkins; S N Thibodeau; D Schaid; G Bren; C E Schwartz; B Wieringa
Journal: Genomics Date: 1989-05 Impact factor: 5.736

9. Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines.

Authors: G K Suthers; V J Hyland; D F Callen; I Oberle; M Rocchi; N S Thomas; C P Morris; C E Schwartz; M Schmidt; H H Ropers
Journal: Am J Hum Genet Date: 1990-08 Impact factor: 11.025

10. Two progenitor cells for human oogonia inferred from pedigree data and the X-inactivation imprinting model of the fragile-X syndrome.

Authors: C D Laird; M M Lamb; J L Thorne
Journal: Am J Hum Genet Date: 1990-04 Impact factor: 11.025

11 in total

1. Estimating the stability of the proposed imprinted state of the fragile-X mutation when transmitted by females.

Authors: P J Follette; C D Laird
Journal: Hum Genet Date: 1992-01 Impact factor: 4.132

2. A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom.

Authors: S J Knight; R J Ritchie; L Chakrabarti; G Cross; G R Taylor; R F Mueller; J Hurst; J Paterson; J R Yates; D J Dow; K E Davies
Journal: Am J Hum Genet Date: 1996-05 Impact factor: 11.025

The fragile X: progress toward solving the puzzle.

1. Microdissection of the fragile X region.

2. New polymorphic DNA marker close to the fragile site FRAXA.

3. Physical and genetic mapping of polymorphic loci in Xq28 (DXS15, DXS52, and DXS134): analysis of a cosmid clone and a yeast artificial chromosome.

4. The polymorphic marker DXS304 is within 5 centimorgans of the fragile X locus.

5. Mental retardation in heterozygotes for the fragile-X mutation: evidence in favor of an X inactivation-dependent effect.

6. Methylation status of genes flanking the fragile site in males with the fragile-X syndrome: a test of the imprinting hypothesis.

7. Toward a physical map of the Xq28 region in man: linking color vision, G6PD, and coagulation factor VIII genes to an X-Y homology region.

8. Genetic and physical mapping of a novel region close to the fragile X site on the human X chromosome.

9. Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines.

10. Two progenitor cells for human oogonia inferred from pedigree data and the X-inactivation imprinting model of the fragile-X syndrome.

1. Estimating the stability of the proposed imprinted state of the fragile-X mutation when transmitted by females.

2. A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom.

3. The FRAXE Syndrome: is it time for routine screening?

Review 4. The fragile X syndrome: isolation of the FMR-1 gene and characterization of the fragile X mutation.

Review 5. Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders.

6. Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation.

7. Founder effect in a Belgian-Dutch fragile X population.

8. Physical map of human Xq27-qter: localizing the region of the fragile X mutation.

9. Polymerase chain reaction analysis of fragile X mutations.

10. Origins of the fragile X syndrome mutation.