Keyword

premutation

Description: A genetic repeat expansion larger than the usual range but below the full-mutation range, associated with conditions such as fragile X syndrome.

Primary topic: Genetics and Neurodevelopmental Disorders (79%)

Wikidata ID: wiki/Q60751902

OpenAlex ID: keywords/premutation

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

1991 · Ying-Hui Fu, Derek P.A. Kuhl, et al. · Cell · 2,083

FMR1 and the fragile X syndrome: Human genome epidemiology review

2001 · Dana C. Crawford, Juan M. Acuña, et al. · Genetics in Medicine · 712

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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

1991 · François Rousseau, Dominique Heitz, et al. · New England Journal of Medicine · 643

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

1994 · Evan E. Eichler, Jeanette J.A. Holden, et al. · Nature Genetics · 481

Co‐occurring conditions associated with FMR1 gene variations: Findings from a national parent survey

2008 · Donald B. Bailey, Melissa Raspa, et al. · American Journal of Medical Genetics Part A · 446

Epidemiology of fragile X syndrome: A systematic review and meta‐analysis

2014 · Jessica Hunter, Oliver Rivero‐Arias, et al. · American Journal of Medical Genetics Part A · 444

Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles

2003 · Sarah L. Nolin, W. Ted Brown, et al. · The American Journal of Human Genetics · 420

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Triplet Repeat Mutations in Human Disease

1992 · C. Caskey, A Pizzuti, et al. · Science · 417

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

1997 · Maria D. Lalioti, Hamish S. Scott, et al. · Nature · 355

A Rapid Polymerase Chain Reaction-Based Screening Method for Identification of All Expanded Alleles of the Fragile X (FMR1) Gene in Newborn and High-Risk Populations

2007 · Flora Tassone, Ruiqin Pan, et al. · Journal of Molecular Diagnostics · 351

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Evolution of the Friedreich’s ataxia trinucleotide repeat expansion: Founder effect and premutations

1997 · Mireille Cossée, Michèle Schmitt, et al. · Proceedings of the National Academy of Sciences · 331

FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States

2012 · Flora Tassone, Ka Pou Iong, et al. · Genome Medicine · 315

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Correlation between CAG repeat length and clinical features in Machado-Joseph disease.

1995 · P Maciel, C Gaspar, et al. · PubMed · 313

The full mutation in the FMR–1 gene of male fragile X patients is absent in their sperm

1993 · Edwin Reyniers, Lieve Vits, et al. · Nature Genetics · 303

The fragile X syndrome.

1998 · B B de Vries, D J Halley, et al. · Journal of Medical Genetics · 259

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Alternative Structures in Duplex DNA Formed within the Trinucleotide Repeats of the Myotonic Dystrophy and Fragile X Loci

1996 · Christopher E. Pearson, Richard R. Sinden · Biochemistry · 258

Fragile-X Carrier Screening and the Prevalence of Premutation and Full-Mutation Carriers in Israel

2001 · Hagit Toledano-Alhadef, Lina Basel-Vanagaite, et al. · The American Journal of Human Genetics · 228

Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.

1993 · K Snow, L K Doud, et al. · PubMed · 226

Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene

2012 · Erick W. Loomis, John S. Eid, et al. · Genome Research · 209

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The Friedreich ataxia GAA triplet repeat: premutation and normal alleles

1997 · L Montermini · Human Molecular Genetics · 207

Obstetrical and gynecological complications in fragile X carriers: A multicenter study

1994 · C. E. Schwartz, J. Dean, et al. · American Journal of Medical Genetics · 207

Replication Stalling at Friedreich's Ataxia (GAA)n Repeats In Vivo

2004 · Maria M. Krasilnikova, Sergei M. Mirkin · Molecular and Cellular Biology · 205

Screening for Expanded Alleles of the FMR1 Gene in Blood Spots from Newborn Males in a Spanish Population

2009 · Isabel Fernandez-Carvajal, Paulina Walichiewicz, et al. · Journal of Molecular Diagnostics · 204

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Advances in Molecular Analysis of Fragile X Syndrome

1994 · Stephen T. Warren · JAMA · 202

Characterization of the full fragile X syndrome mutation in fetal gametes

1997 · Henry E. Malter, Jane C. Iber, et al. · Nature Genetics · 197

Works count: 663

Citation count: 23,040