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Erosion of Dosage Compensation Impacts Human iPSC Disease Modeling
Mekhoubad, Shila, Bock, Christoph, de Boer, A. Sophie, Kiskinis, Evangelos, Meissner, Alexander, Eggan, Kevin
Published in Cell stem cell (04.05.2012)
Published in Cell stem cell (04.05.2012)
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Journal Article
Induced pluripotent stem cells from subjects with Lesch-Nyhan disease
Sutcliffe, Diane J., Dinasarapu, Ashok R., Visser, Jasper E., Hoed, Joery den, Seifar, Fatemeh, Joshi, Piyush, Ceballos-Picot, Irene, Sardar, Tejas, Hess, Ellen J., Sun, Yan V., Wen, Zhexing, Zwick, Michael E., Jinnah, H. A.
Published in Scientific reports (19.04.2021)
Published in Scientific reports (19.04.2021)
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Journal Article
Modeling rare genetic disease with patient-derived induced pluripotent stem cells: reassessment of the minimum numbers of lines needed
Dinasarapu, Ashok R, Sutcliffe, Diane J, Grychowski, Lauren, Ozel, Erkin, Thite, Anika, Visser, Jasper E, Hess, Ellen J, Kolk, Sharon M, Jinnah, H A
Published in Stem cells translational medicine (24.07.2025)
Published in Stem cells translational medicine (24.07.2025)
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Journal Article
Methylation Status of HPRT1 Promoter in HPRT Deficiency with Normal Coding Region
Garcia, M. G., Torres, R. J., Puig, J. G.
Published in Nucleosides, nucleotides & nucleic acids (01.06.2010)
Published in Nucleosides, nucleotides & nucleic acids (01.06.2010)
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Journal Article
Partial HPRT Deficiency Phenotype and Incomplete Splicing Mutation
Torres, R. J., Garcia, M. G., Puig, J. G.
Published in Nucleosides, nucleotides & nucleic acids (01.06.2010)
Published in Nucleosides, nucleotides & nucleic acids (01.06.2010)
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Journal Article
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: Biochemical and Molecular Findings in Six Argentine Patients
Laróvere, L. E., O'Neill, J. P., Randall, M., Fairbanks, L. D., Guelbert, N., Czornyj, L., de Kremer, R. Dodelson
Published in Nucleosides, nucleotides & nucleic acids (01.01.2007)
Published in Nucleosides, nucleotides & nucleic acids (01.01.2007)
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Journal Article
Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency
DAVIDSON, B. L, TARLE, S. A, VAN ANTWERP, M, GIBBS, D. A, WATTS, R. W. E, KELLEY, W. N, PALELLA, T. D
Published in American journal of human genetics (01.05.1991)
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Published in American journal of human genetics (01.05.1991)
Journal Article
Determination of the mutations responsible for the lesch-nyhan syndrome in 17 subjects
Tarlé, Susan A., Davidson, Beverly L., Wu, Veda C., Zidar, Frank J., Seegmiller, J.Edwin, Kelley, William N., Palella, Thomas D.
Published in Genomics (San Diego, Calif.) (01.06.1991)
Published in Genomics (San Diego, Calif.) (01.06.1991)
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Journal Article
A New Method for the Detection of Lesch-Nyhan Heterozygotes by Peripheral Blood T Cell Culture Using T Cell Growth Factor
Kamatani, Naoyuki, Yamanaka, Hisashi, Nishioka, Kusuki, Nakamura, Tsuneyoshi, Nakano, Kei-ichiro, Tanimoto, Kiyoaki, Mizuno, Tei-ichi, Nishida, Yutaro
Published in Blood (01.04.1984)
Published in Blood (01.04.1984)
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Journal Article
Observations on the growth in vitro of myeloid progenitor cells and fibroblasts from hemizygotes and heterozygotes for “complete” and “partial” hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency, and their relevance to the pathogenesis of brain damage in the Lesch-Nyhan syndrome
McKeran, R.O., Howell, A., Andrews, T.M., Watts, R.W.E., Arlett, C.F.
Published in Journal of the neurological sciences (01.06.1974)
Published in Journal of the neurological sciences (01.06.1974)
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Journal Article
Quantification of chemical mutagenesis in diploid human fibroblasts: Induction of azaguanine-resistant mutants by N-methyl- N′-nitro- N-nitrosoguanidine
Jacobs, Lois, Demars, Robert
Published in Mutation Research/Environmental Mutagenesis and Related Subjects (01.02.1978)
Published in Mutation Research/Environmental Mutagenesis and Related Subjects (01.02.1978)
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Journal Article