Literature DB >> 8198135

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

J M Barceló, M Pluscauskas, A E MacKenzie, C Tsilfidis, M Narang, R G Korneluk.   

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Year:  1994        PMID： 8198135      PMCID： PMC1918194     

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


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  11 in total

1.  Genetic risks for children of women with myotonic dystrophy.

Authors:  M C Koch; T Grimm; H G Harley; P S Harper
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

2.  Explanation for exclusive maternal origin for congenital form of myotonic dystrophy.

Authors:  J C Mulley; A Staples; A Donnelly; A K Gedeon; B K Hecht; G A Nicholson; E A Haan; G R Sutherland
Journal:  Lancet       Date:  1993-01-23       Impact factor: 79.321

3.  Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene.

Authors:  M Mahadevan; C Tsilfidis; L Sabourin; G Shutler; C Amemiya; G Jansen; C Neville; M Narang; J Barceló; K O'Hoy
Journal:  Science       Date:  1992-03-06       Impact factor: 47.728

4.  An unstable triplet repeat in a gene related to myotonic muscular dystrophy.

Authors:  Y H Fu; A Pizzuti; R G Fenwick; J King; S Rajnarayan; P W Dunne; J Dubel; G A Nasser; T Ashizawa; P de Jong
Journal:  Science       Date:  1992-03-06       Impact factor: 47.728

5.  Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.

Authors:  C Lavedan; H Hofmann-Radvanyi; P Shelbourne; J P Rabes; C Duros; D Savoy; I Dehaupas; S Luce; K Johnson; C Junien
Journal:  Am J Hum Genet       Date:  1993-05       Impact factor: 11.025

6.  Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring.

Authors:  J B Redman; R G Fenwick; Y H Fu; A Pizzuti; C T Caskey
Journal:  JAMA       Date:  1993-04-21       Impact factor: 56.272

7.  Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy.

Authors:  C Tsilfidis; A E MacKenzie; G Mettler; J Barceló; R G Korneluk
Journal:  Nat Genet       Date:  1992-06       Impact factor: 38.330

8.  Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

Authors:  J D Brook; M E McCurrach; H G Harley; A J Buckler; D Church; H Aburatani; K Hunter; V P Stanton; J P Thirion; T Hudson
Journal:  Cell       Date:  1992-02-21       Impact factor: 41.582

9.  Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy.

Authors:  M Anvret; G Ahlberg; U Grandell; B Hedberg; K Johnson; L Edström
Journal:  Hum Mol Genet       Date:  1993-09       Impact factor: 6.150

10.  Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.

Authors:  H G Harley; S A Rundle; J C MacMillan; J Myring; J D Brook; S Crow; W Reardon; I Fenton; D J Shaw; P S Harper
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025
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  7 in total

1.  Paternal transmission of congenital myotonic dystrophy.

Authors:  C E de Die-Smulders; H J Smeets; W Loots; H B Anten; J F Mirandolle; J P Geraedts; C J Höweler
Journal:  J Med Genet       Date:  1997-11       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.  Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1.

Authors:  Fernando Morales; Melissa Vásquez; Patricia Cuenca; Domingo Campos; Carolina Santamaría; Gerardo Del Valle; Roberto Brian; Mauricio Sittenfeld; Darren G Monckton
Journal:  Eur J Hum Genet       Date:  2014-07-23       Impact factor: 4.246

5.  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

6.  Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy.

Authors:  James D Thomas; Łukasz J Sznajder; Olgert Bardhi; Faaiq N Aslam; Zacharias P Anastasiadis; Marina M Scotti; Ichizo Nishino; Masayuki Nakamori; Eric T Wang; Maurice S Swanson
Journal:  Genes Dev       Date:  2017-07-11       Impact factor: 11.361

7.  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
  7 in total

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