Stephen R. Dlouhy
Affiliations: | Indiana University, Bloomington, Bloomington, IN, United States |
Area:
Genetics, Oncology, Human DevelopmentGoogle:
"Stephen Dlouhy"
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Publications
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| Feldman HR, Dlouhy SR, Lah MD, et al. (2018) The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene. American Journal of Medical Genetics. Part A |
| Nelson K, Jackman C, Bell J, et al. (2018) Novel Homozygous Deletion in STRADA Gene Associated With Polyhydramnios, Megalencephaly, and Epilepsy in 2 Siblings: Implications for Diagnosis and Treatment. Journal of Child Neurology. 883073818802724 |
| Celestino-Soper PB, Simpson E, Tumbleson Brink D, et al. (2016) Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis. Scientific Reports. 6: 38776 |
| Chakraborty S, Vatta M, Bachinski LL, et al. (2016) Molecular Diagnosis of Myotonic Dystrophy. Current Protocols in Human Genetics. 91: 9.29.1-9.29.19 |
| Drendel HM, Pike JE, Schumacher K, et al. (2015) Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T. Case Reports in Genetics. 2015: 532090 |
| Singh S, Zhang A, Dlouhy S, et al. (2014) Detection of large expansions in myotonic dystrophy type 1 using triplet primed PCR. Frontiers in Genetics. 5: 94 |
| Spina S, Murrell JR, Yoshida H, et al. (2007) The novel Tau mutation G335S: clinical, neuropathological and molecular characterization. Acta Neuropathologica. 113: 461-70 |
| Gao Q, Thurston VC, Vance GH, et al. (2005) Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease Clinical Genetics. 68: 466-467 |
| Laukaitis CM, Dlouhy SR, Emes RD, et al. (2005) Diverse spatial, temporal, and sexual expression of recently duplicated androgen-binding protein genes in Mus musculus. Bmc Evolutionary Biology. 5: 40 |
| Wexler NS, Lorimer J, Porter J, et al. (2004) Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proceedings of the National Academy of Sciences of the United States of America. 101: 3498-503 |