DOI: 10.1093/hmg/6.6.877. Somatic Instability of the Myotonic Dystrophy (CTG)n Repeat during Human Fetal Development

Somatic Instability of the Myotonic Dystrophy (CTG)n Repeat during Human Fetal Development

10.1093/hmg/6.6.877

Crossref journal-article

Oxford University Press (OUP)

Human Molecular Genetics (286)

Bibliography

Martorell, L., Johnson, K., Boucher, C. A., & Baiget, M. (1997). Somatic Instability of the Myotonic Dystrophy (CTG)n Repeat during Human Fetal Development. Human Molecular Genetics, 6(6), 877â880.

Authors 4

Loreto Martorell (first)
Keith Johnson (additional)
Catherine A. Boucher (additional)
Montserrat Baiget (additional)

References 26 Referenced 47

{'key': 'key\n\t\t\t\t20170809110922_ref1', 'volume-title': 'Myotonic dystrophy', 'year': '1989', 'edition': '2nd edn.'} / Myotonic dystrophy (1989)
{'key': 'key\n\t\t\t\t20170809110922_ref2', 'first-page': '10', 'article-title': 'Anticipation in myotonic dystrophy: new light on an old problem', 'volume': '51', 'year': '1992', 'journal-title': 'Am. J. Hum. Genet.'} / Am. J. Hum. Genet. / Anticipation in myotonic dystrophy: new light on an old problem (1992)
10.1016/0092-8674(92)90154-5 / Cell / Molecular basis of myotonic dystrophy: expansion of trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member (1992)
10.1038/355548a0 / Nature / Cloning the essential myotonic dystrophy region and mapping of the putative defect (1992)
10.1038/355547a0 / Nature / Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy (1992)
10.1038/355545a0 / Nature / Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy (1992)
10.1016/0140-6736(92)90729-M / Lancet / Unstable DNA sequence in myotonic dystrophy (1992)
{'key': 'key\n\t\t\t\t20170809110922_ref8', 'first-page': '1877', 'article-title': 'Anticipation in myotonic dystrophy', 'volume': '42', 'year': '1992', 'journal-title': 'II. Complex relationships between clinical findings and structure of the GCT repeat. Neurology'} / II. Complex relationships between clinical findings and structure of the GCT repeat. Neurology / Anticipation in myotonic dystrophy (1992)
10.1126/science.1546325 / Science / Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene (1992)
10.1126/science.1546326 / Science / An unstable triplet repeat in a gene related to myotonic muscular dystrophy (1992)
10.1002/ana.410350323 / Ann. Neurol. / CTG trinucleotide repeat variability in identical twins with myotonic dystrophy (1994)
{'issue': 'supplement', 'key': 'key\n\t\t\t\t20170809110922_ref12', 'first-page': 'A280', 'article-title': 'Germline versus somatic diversity of the p(CTG)n repeat in myotonic dystrophy', 'volume': '43', 'year': '1993', 'journal-title': 'Neurology'} / Neurology / Germline versus somatic diversity of the p(CTG)n repeat in myotonic dystrophy (1993)
10.1212/WNL.43.12.2674 / Neurology / Somatic instability of CTG repeat in myotonic dystrophy (1993)
10.1136/jmg.32.8.593 / J. Med. Genet. / Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period (1995)
10.1093/hmg/4.4.599 / Hum. Mol. Genet. / Myotonic dystrophy: evidence for a possible dominant negative RNA mutation (1995)
10.1093/hmg/1.7.467 / Hum. Mol. Genet. / Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype (1992)
{'issue': 'supplement', 'key': 'key\n\t\t\t\t20170809110922_ref17', 'first-page': '425', 'article-title': 'The unstable (CTG)n motif and Myotonic Dystrophy (DM): Are poligenic and non-mendelian aspects involved in disease manifestations?', 'volume': '51', 'year': '1992', 'journal-title': 'Am. J. Hum. Genet.'} / Am. J. Hum. Genet. / The unstable (CTG)n motif and Myotonic Dystrophy (DM): Are poligenic and non-mendelian aspects involved in disease manifestations? (1992)
{'key': 'key\n\t\t\t\t20170809110922_ref18', 'first-page': '875', 'article-title': 'Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism', 'volume': '52', 'year': '1993', 'journal-title': 'Am. J. Hum. Genet.'} / Am. J. Hum. Genet. / Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism (1993)
{'key': 'key\n\t\t\t\t20170809110922_ref19', 'first-page': '575', 'article-title': 'Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm', 'volume': '54', 'year': '1994', 'journal-title': 'Am. J. Hum. Genet.'} / Am. J. Hum. Genet. / Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm (1994)
{'key': 'key\n\t\t\t\t20170809110922_ref20', 'first-page': '276', 'article-title': 'Direct molecular diagnosis of myotonic dystrophy', 'volume': '43', 'year': '1993', 'journal-title': 'Clin. Genet.'} / Clin. Genet. / Direct molecular diagnosis of myotonic dystrophy (1993)
10.1093/hmg/4.7.1147 / Hum. Mol. Genet. / Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: evidence for a causal involvement of methyl-directed DNA mismatch repair in triplet repeat stability (1995)
10.1038/bjc.1996.264 / Br. J. Cancer / Microsatellite instability in early sporadic breast cancer (1996)
10.1007/s004390050179 / Hum. Genet. / Stability of triplet repeats of myotonic dystrophy and fragile X loci in human mutator mismatch repair cell lines (1996)
10.1038/ng0593-72 / Nature Genet. / Origin of the expansion mutation in myotonic dystrophy (1993)
10.1093/nar/16.3.1215 / Nucleic Acids Res. / A simple salting out procedure for extracting DNA from human nucleated cells (1988)
10.1093/hmg/2.6.711 / Hum. Mol. Genet. / Molecular diagnosis of homozygous myotonic dystrophy in two asymptomatic sisters (1993)

Dates

Type	When
Created	23 years, 1 month ago (July 26, 2002, 6:20 p.m.)
Deposited	8 years ago (Aug. 9, 2017, 11:09 a.m.)
Indexed	3 weeks, 6 days ago (Aug. 6, 2025, 9:44 a.m.)
Issued	28 years, 3 months ago (June 1, 1997)
Published	28 years, 3 months ago (June 1, 1997)
Published Print	28 years, 3 months ago (June 1, 1997)

Funders 0

None

BibTeX

@article{Martorell_1997, title={Somatic Instability of the Myotonic Dystrophy (CTG)n Repeat during Human Fetal Development}, volume={6}, ISSN={1460-2083}, url={http://dx.doi.org/10.1093/hmg/6.6.877}, DOI={10.1093/hmg/6.6.877}, number={6}, journal={Human Molecular Genetics}, publisher={Oxford University Press (OUP)}, author={Martorell, Loreto and Johnson, Keith and Boucher, Catherine A. and Baiget, Montserrat}, year={1997}, month=jun, pages={877–880} }

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