Literature DB >> 8093513

Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy.

C Lavedan, H Hofmann-Radvanyi, J P Rabes, J Roume, C Junien.   

Abstract

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Year:  1993        PMID： 8093513     DOI： 10.1016/0140-6736(93)90097-z

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  14 in total

1.  FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males.

Authors:  S L Nolin; G E Houck; A D Gargano; H Blumstein; C S Dobkin; W T Brown
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

2.  Genetic linkage of IgA deficiency to the major histocompatibility complex: evidence for allele segregation distortion, parent-of-origin penetrance differences, and the role of anti-IgA antibodies in disease predisposition.

Authors:  I Vorechovský; A D Webster; A Plebani; L Hammarström
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

3.  Additive influence of maternal and offspring DM-kinase gene CTG repeat lengths in the genesis of congenital myotonic dystrophy.

Authors:  J M Barceló; M Pluscauskas; A E MacKenzie; C Tsilfidis; M Narang; R G Korneluk
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

4.  Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families.

Authors:  M R Passos-Bueno; A Cerqueira; M Vainzof; S K Marie; M Zatz
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

5.  French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion.

Authors:  C Lavedan; H Hofmann-Radvanyi; C Boileau; C Bonaïti-Pellié; D Savoy; P Shelbourne; C Duros; J P Rabes; I Dehaupas; S Luce
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

6.  Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.

Authors:  G Jansen; P Willems; M Coerwinkel; W Nillesen; H Smeets; L Vits; C Höweler; H Brunner; B Wieringa
Journal:  Am J Hum Genet       Date:  1994-04       Impact factor: 11.025

7.  Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy.

Authors:  A López de Munain; A M Cobo; J J Poza; D Navarrete; L Martorell; F Palau; J I Emparanza; M Baiget
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318

8.  The fragile X premutation in carriers and its effect on mutation size in offspring.

Authors:  G S Fisch; K Snow; S N Thibodeau; M Chalifaux; J J Holden; D L Nelson; P N Howard-Peebles; A Maddalena
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

9.  Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent.

Authors:  L J Wong; T Ashizawa; D G Monckton; C T Caskey; C S Richards
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

10.  Negative expansion of the myotonic dystrophy unstable sequence.

Authors:  D Abeliovich; I Lerer; I Pashut-Lavon; E Shmueli; A Raas-Rothschild; M Frydman
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025
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