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Exploring the Potential of Small Molecule-Based Therapeutic Approaches for Targeting Trinucleotide Repeat Disorders

Verma, A. K., Khan, E., Bhagwat, S. R., & Kumar, A. (2019) · Molecular Neurobiology · doi:10.1007/s12035-019-01724-4 · Cited by 28

Fragile X-associated tremor/ataxia syndrome and movements disorders

Baba, Y., & Uitti, R. J. (2005) · Current Opinion in Neurology · doi:10.1097/01.wco.0000168332.99305.50 · Cited by 27

Validation of Sensitivity and Specificity of Tetraplet-Primed PCR (TP-PCR) in the Molecular Diagnosis of Myotonic Dystrophy Type 2 (DM2)

Catalli, C., Morgante, A., Iraci, R., Rinaldi, F., Botta, A., & Novelli, G. (2010) · Journal of Molecular Diagnostics · doi:10.2353/jmoldx.2010.090239 · Cited by 27

The fragile X syndrome: implications of molecular genetics for the clinical syndrome

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Human Fragile Site FRA16B DNA Excludes Nucleosomes in the Presence of Distamycin

Hsu, Y.-Y., & Wang, Y. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m200901200 · Cited by 27

Molecular analysis of the 5α-steroid reductase type 2 gene in a family with deficiency of the enzyme

Vilchis, F., Canto, P., Chávez, B. A., Ulloa‐Aguirre, A., & Méndez, J. P. (1997) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19970303)69:1 · Cited by 16

Polymorphism in the multi-phosphorylation domain of the human neurofilament heavy-subunit-encoding gene

Figlewicz, D. A., Rouleau, G. A., Krizus, A., & Julien, J. (1993) · Gene · doi:10.1016/0378-1119(93)90211-k · Cited by 27

Analysis of germline variation at the FMR1 CGG repeat shows variation in the normal-premutated borderline range

Mornet, E. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.6.821 · Cited by 27

Human Ku Antigen Tightly Binds and Stabilizes a Tetrahelical Form of the Fragile X Syndrome d(CGG) Expanded Sequence

Uliel, L., Weisman-Shomer, P., Oren-Jazan, H., Newcomb, T. G., Loeb, L. A., & Fry, M. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.m005542200 · Cited by 27

Genetics and Immunogenetic Aspects of Primary Pulmonary Hypertension

Barst, R. J., & Loyd, J. E. (1998) · CHEST Journal · doi:10.1378/chest.114.3_supplement.231s · Cited by 27

Characterizations of candidate genes for IDD susceptibility from the diabetes-prone NOD mouse strain

Chesnut, K. A., She, J., Cheng, I., Muralidharan, K., & Wakeland, E. K. (1993) · Mammalian Genome · doi:10.1007/bf00361383 · Cited by 27

Anticipation in hereditary dentatorubral-pallidoluysian atrophy

Sano, A., Yamauchi, N., Kakimoto, Y., Komure, O., Kawai, J., Hazama, F., Kuzume, K., Sano, N., & Kondo, I. (1994) · Human Genetics · doi:10.1007/bf00201575 · Cited by 27

An aetiological study of 25 mentally retarded adults with autism

van Karnebeek, C., van Gelderen, I., Nijhof, G. J., Abeling, N. G. G. M., Vreken, P., Redeker, E. J. W., van Eeghen, A. M., Hoovers, J. M. N., & Hennekam, R. C. M. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.3.205 · Cited by 27

Molecular-Clinical Correlations in Children and Adults With Fragile X Syndrome

Staley, L. W. (1993) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/archpedi.1993.02160310025011 · Cited by 27

A comparative study of educational provision for children with neurogenetic syndromes: parent and teacher survey

Reilly, C. J., Senior, J., & Murtagh, L. (2015) · Journal of Intellectual Disability Research · doi:10.1111/jir.12210 · Cited by 26

Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance

Taruscio, D., Falbo, V., Floridia, G., Salvatore, M., Pescucci, C., Cantàfora, A., Marongiu, C., Baroncini, A., Calzolari, E., Cao, A., et al. (2004) · Clinical Chemistry and Laboratory Medicine (CCLM) · doi:10.1515/cclm.2004.148 · Cited by 26

Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome

Mornet, É., Chateau, C., Taillandier, A., Simon‐Bouy, B., & Serre, J. (1996) · Human Genetics · doi:10.1007/bf02267077 · Cited by 17

The fragile X mutation

Imbert, G., & Mandel, J. (1995) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.1410010405 · Cited by 7

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

Nolin, S. L., Brown, W. T., Glicksman, A., Houck, Jr., Gargano, A. D., Sullivan, A., Biancalana, V., Bröndum-Nielsen, K., Hjalgrim, H., Holinski-Feder, E., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/367713 · Cited by 421

Mechanisms of Genome Instability in the Fragile X-Related Disorders

Hayward, B. E., & Usdin, K. (2021) · Genes · doi:10.3390/genes12101633 · Cited by 14

Mechanisms of Repeat Instability in Fragile X Syndrome

Usdin, K., Gazy, I., & Zhao, X.-N. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-804461-2.00005-6