Keyword

full mutation

Description: A large expansion of the CGG repeat in the FMR1 gene that causes fragile X syndrome, typically associated with abnormal gene methylation and silencing.

Primary topic: Genetics and Neurodevelopmental Disorders (95%)

OpenAlex ID: keywords/full-mutation

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

Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study?preliminary data

1999 · Diane J. Allingham-Hawkins, Riyana Babul-Hirji, et al. · American Journal of Medical Genetics · 502

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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Autism Spectrum Phenotype in Males and Females with Fragile X Full Mutation and Premutation

2006 · Sally Clifford, Cheryl Dissanayake, et al. · Journal of Autism and Developmental Disorders · 380

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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FMRP expression as a potential prognostic indicator in fragile X syndrome

1999 · Flora Tassone, Randi J. Hagerman, et al. · American Journal of Medical Genetics · 347

The fragile X prevalence paradox

2008 · Paul J Hagerman · Journal of Medical Genetics · 343

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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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

High functioning fragile X males: Demonstration of an unmethylated fully expanded FMR‐1 mutation associated with protein expression

1994 · Randi J. Hagerman, Claire E. Hull, et al. · American Journal of Medical Genetics · 222

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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Molecular-clinical correlations in males with an expanded FMR1 mutation

1996 · Scott A. Merenstein, William E. Sobesky, et al. · American Journal of Medical Genetics · 209

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

Mental status of females with an FMR1 gene full mutation.

1996 · B B de Vries, A M Wiegers, et al. · PubMed · 206

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

Fragile X spectrum disorders

2014 · Reymundo Lozano, Carolina Alba Rosero, et al. · Intractable & Rare Diseases Research · 186

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Works count: 529

Citation count: 20,690