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

Randi J. Hagerman, Claire Hull, John F. Safanda, +11

American Journal of Medical Genetics

Genetic TestingGeneticsMolecular BiologyMolecular GeneticsEpigenetics +16

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation

Karen Snow, David J. Tester, Kent E. Kruckeberg, +2

Human Molecular Genetics

GeneticsMolecular BiologyMolecular GeneticsGenomicsReplication Slippage +19

Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion

Dusica Babovic‐Vuksanovic, Karen Snow, Marc C. Patterson, +1

American Journal of Medical Genetics

Childhood‐onset ataxia: Testing for large CAG‐repeats in SCA2 and SCA7

Rong Mao, Arthur S. Aylsworth, Nicholas Potter, +8

American Journal of Medical Genetics

Neurodegenerative DiseasesSuch Large ExpansionsMedicineGeneticsExtreme Expansion +12

Mannose-binding lectin (MBL) deficiency. Variant alleles in a Midwestern population of the United States

Dusica Babovic‐Vuksanovic, Karen Snow, Rosa Ten

Annals of Allergy Asthma & Immunology

Variant AllelesAllelic VariantGenetic DisorderMedicineGenetics +7

Null Alleles at the Huntington Disease Locus: Implications for Diagnostics and CAG Repeat Instability

Liam Williams, Madhuri Hegde, Radhika Nagappan, +5

Genetic Testing

EngineeringGeneticsGenetic EpidemiologyMolecular BiologyMolecular Genetics +17

Analysis of mutations at the fragile X locus using the DNA probe Ox1.9

Karen Snow, L. Doud, Randi J. Hagerman, +4

American Journal of Medical Genetics

Evaluation of Microchip Electrophoresis as a Molecular Diagnostic Method for Duchenne Muscular Dystrophy

Jerome P. Ferrance, Karen Snow, James P. Landers

Clinical Chemistry

Genetic TestingGeneticsGenetic EpidemiologyMolecular GeneticsDisease Gene Identification +23

Reliability of diagnostic assessment of normal and premutation status in the fragile X syndrome using DNA testing

Gene S. Fisch, David L. Nelson, Karen Snow, +3

American Journal of Medical Genetics

Genetic TestingGeneticsGenetic EpidemiologyDiagnosisHuman Polymorphism +20

Segregation of the fragile X mutation from a male with a full mutation: Unusual somatic instability in the FMR-1 locus

Marios Kambouris, Karen Snow, Stephen Thibodeau, +3

American Journal of Medical Genetics