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Literature DB >> 1944473

Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence.

G R Sutherland¹, A Gedeon, L Kornman, A Donnelly, R W Byard, J C Mulley, E Kremer, M Lynch, M Pritchard, S Yu.

Abstract

Entities: Disease

Mesh：

Substances：
DNA

Year: 1991 PMID： 1944473 DOI： 10.1056/NEJM199112123252407

Source DB: PubMed Journal: N Engl J Med ISSN： 0028-4793 Impact factor: 91.245

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Cited

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21 in total

1. Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy.

Authors: J Myring; A L Meredith; H G Harley; G Kohn; G Norbury; P S Harper; D J Shaw
Journal: J Med Genet Date: 1992-11 Impact factor: 6.318

2. Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.

Authors: J T Clarke; P J Wilson; C P Morris; J J Hopwood; R I Richards; G R Sutherland; P N Ray
Journal: Am J Hum Genet Date: 1992-08 Impact factor: 11.025

3. Fragile-X syndrome: unique genetics of the heritable unstable element.

Authors: S Yu; J Mulley; D Loesch; G Turner; A Donnelly; A Gedeon; D Hillen; E Kremer; M Lynch; M Pritchard
Journal: Am J Hum Genet Date: 1992-05 Impact factor: 11.025

4. A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.

Authors: F Rousseau; D Heitz; J Tarleton; J MacPherson; H Malmgren; N Dahl; A Barnicoat; C Mathew; E Mornet; I Tejada
Journal: Am J Hum Genet Date: 1994-08 Impact factor: 11.025

Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence.

1. Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy.

2. Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.

3. Fragile-X syndrome: unique genetics of the heritable unstable element.

4. A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.

5. DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63).

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

7. Anthropometric and craniofacial patterns in mentally retarded males with emphasis on the fragile X syndrome.

8. Genotype-phenotype relationships in fragile X syndrome: a family study.

9. Direct versus indirect molecular diagnosis of fragile X mental retardation in 40 German families at risk.

10. Molecular carrier testing for the fragile X syndrome: Issues for genetic counselors.