Literature DB >> 8097850

Sex-related difference in intergenerational expansion of myotonic dystrophy gene.

A M Cobo, M Baiget, A López de Munain, J J Poza, J I Emparanza, K Johnson.   

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Year:  1993        PMID： 8097850     DOI： 10.1016/0140-6736(93)93186-5

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


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  10 in total

1.  Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated cases.

Authors:  L Martorell; I Illa; J Rosell; J Benitez; M J Sedano; M Baiget
Journal:  J Med Genet       Date:  1996-09       Impact factor: 6.318

2.  Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent.

Authors:  Fernando Morales; Eyleen Corrales; Baili Zhang; Melissa Vásquez; Carolina Santamaría-Ulloa; Hazel Quesada; Mario Sirito; Marcos R Estecio; Darren G Monckton; Ralf Krahe
Journal:  Hum Mol Genet       Date:  2021-12-27       Impact factor: 5.121

Review 3.  Genetic and Epigenetic Interplay Define Disease Onset and Severity in Repeat Diseases.

Authors:  Lise Barbé; Steve Finkbeiner
Journal:  Front Aging Neurosci       Date:  2022-05-03       Impact factor: 5.702

4.  Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy.

Authors:  A M Cobo; J J Poza; L Martorell; A López de Munain; J I Emparanza; M Baiget
Journal:  J Med Genet       Date:  1995-02       Impact factor: 6.318

5.  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

6.  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

7.  A case of paternally inherited congenital myotonic dystrophy.

Authors:  M Nakagawa; H Yamada; I Higuchi; Y Kaminishi; T Miki; K Johnson; M Osame
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

8.  CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.

Authors:  Lise Barbé; Stella Lanni; Arturo López-Castel; Silvie Franck; Claudia Spits; Kathelijn Keymolen; Sara Seneca; Stephanie Tomé; Ioana Miron; Julie Letourneau; Minggao Liang; Sanaa Choufani; Rosanna Weksberg; Michael D Wilson; Zdenek Sedlacek; Cynthia Gagnon; Zuzana Musova; David Chitayat; Patrick Shannon; Jean Mathieu; Karen Sermon; Christopher E Pearson
Journal:  Am J Hum Genet       Date:  2017-03-02       Impact factor: 11.025

9.  Postzygotic instability of the myotonic dystrophy p[AGC] in repeat supported by larger expansions in muscle and reduced amplifications in sperm.

Authors:  A Massari; M Gennarelli; E Menegazzo; A Pizzuti; V Silani; I Mastrogiacomo; E Pagani; C Angelini; G Scarlato; G Novelli
Journal:  J Neurol       Date:  1995-06       Impact factor: 4.849

10.  Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy.

Authors:  T Ashizawa; M Anvret; M Baiget; J M Barceló; H Brunner; A M Cobo; B Dallapiccola; R G Fenwick; U Grandell; H Harley
Journal:  Am J Hum Genet       Date:  1994-03       Impact factor: 11.025
  10 in total

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