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Literature DB >> 11657178

Duty to re-contact: a study of families at risk for Fragile X.

Lynn E Bernard, Barbara McGillivray, Margot I Van Allen, J M Friedman, Sylvie Langlois.

Abstract

Entities: Disease

Keywords: Empirical Approach; Genetics and Reproduction

Mesh：

Year: 1999 PMID： 11657178 DOI： 10.1023/a:1022878402764

Source DB: PubMed Journal: J Genet Couns ISSN： 1059-7700 Impact factor: 2.537

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10 in total

1. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome.

Authors: I Oberlé; F Rousseau; D Heitz; C Kretz; D Devys; A Hanauer; J Boué; M F Bertheas; J L Mandel
Journal: Science Date: 1991-05-24 Impact factor: 47.728

2. Fragile X genotype characterized by an unstable region of DNA.

Authors: S Yu; M Pritchard; E Kremer; M Lynch; J Nancarrow; E Baker; K Holman; J C Mulley; S T Warren; D Schlessinger
Journal: Science Date: 1991-05-24 Impact factor: 47.728

3. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.

Authors: E J Kremer; M Pritchard; M Lynch; S Yu; K Holman; E Baker; S T Warren; D Schlessinger; G R Sutherland; R I Richards
Journal: Science Date: 1991-06-21 Impact factor: 47.728

4. Prevalence of fragile X syndrome.

Authors: G Turner; T Webb; S Wake; H Robinson
Journal: Am J Med Genet Date: 1996-07-12

5. Frequency and stability of the fragile X premutation.

Authors: A L Reiss; H H Kazazian; C M Krebs; A McAughan; C D Boehm; M T Abrams; D L Nelson
Journal: Hum Mol Genet Date: 1994-03 Impact factor: 6.150

6. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.

Authors: A J Verkerk; M Pieretti; J S Sutcliffe; Y H Fu; D P Kuhl; A Pizzuti; O Reiner; S Richards; M F Victoria; F P Zhang
Journal: Cell Date: 1991-05-31 Impact factor: 41.582

7. DNA testing for fragile X syndrome: implications for parents and family.

Authors: M A van Rijn; B B de Vries; A Tibben; A M van den Ouweland; D J Halley; M F Niermeijer
Journal: J Med Genet Date: 1997-11 Impact factor: 6.318

8. Molecular fragile X screening in normal populations.

Authors: W C Spence; S H Black; L Fallon; A Maddalena; E Cummings; G Menapace-Drew; D P Bick; G Levinson; J D Schulman; P N Howard-Peebles
Journal: Am J Med Genet Date: 1996-07-12

9. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.

Authors: Y H Fu; D P Kuhl; A Pizzuti; M Pieretti; J S Sutcliffe; S Richards; A J Verkerk; J J Holden; R G Fenwick; S T Warren
Journal: Cell Date: 1991-12-20 Impact factor: 41.582

10. Prevalence of the fragile-X syndrome in mentally retarded boys in a Swedish county.

Authors: K H Gustavson; H K Blomquist; G Holmgren
Journal: Am J Med Genet Date: 1986 Jan-Feb

10 in total

5 in total

1. Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe.

Authors: Fabio Sirchia; Daniele Carrieri; Sandi Dheensa; Caroline Benjamin; Hülya Kayserili; Christophe Cordier; Carla G van El; Peter D Turnpenny; Bela Melegh; Álvaro Mendes; Tanya F Halbersma-Konings; Irene M van Langen; Anneke M Lucassen; Angus J Clarke; Francesca Forzano; Susan E Kelly
Journal: Eur J Hum Genet Date: 2018-04-23 Impact factor: 4.246