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Items: 1 to 20 of 47

1.
CRISPR/Cas9-Mediated Scanning for Regulatory Elements Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions
Molly Gasperini, Gregory M. Findlay, Aaron McKenna, Jennifer H. Milbank, Choli Lee, Melissa D. Zhang, Darren A. Cusanovich, Jay Shendure
Am J Hum Genet. 2017 Aug 3; 101(2): 192–205. Published online 2017 Jul 14. doi: 10.1016/j.ajhg.2017.06.010
PMCID:
PMC5544381
AbstractArticlePDF–1.8M
2.
Mechanisms for phenotypic variation in Lesch–Nyhan disease and its variants
Radhika Sampat, Rong Fu, Laura E. Larovere, Rosa J. Torres, Irene Ceballos-Picot, Michel Fischbach, Raquel de Kremer, David J. Schretlen, Juan Garcia Puig, H. A. Jinnah
Hum Genet. Author manuscript; available in PMC 2012 Jan 1.
Published in final edited form as: Hum Genet. 2011 Jan; 129(1): 71–78. Published online 2010 Oct 28. doi: 10.1007/s00439-010-0901-9
PMCID:
PMC3034646
AbstractArticlePDF–355K
3.
Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis
Irene Ceballos-Picot, Lionel Mockel, Marie-Claude Potier, Luce Dauphinot, Thomas L. Shirley, Raoul Torero-Ibad, Julia Fuchs, H.A. Jinnah
Hum Mol Genet. 2009 Jul 1; 18(13): 2317–2327. Published online 2009 Apr 2. doi: 10.1093/hmg/ddp164
PMCID:
PMC2694685
AbstractArticlePDF–233K
4.
Half chromatid mutations: transmission in humans?
S M Gartler, U Francke
Am J Hum Genet. 1975 Mar; 27(2): 218–223.
PMCID:
PMC1762757
SummaryPage BrowsePDF–584K
5.
Linkage relationships of X-linked enzymes glucose-6-phosphate dehydrogenase and hypoxanthine guanine phosphoribosyltransferase: recombination in female offspring of compound heterozygotes.
U Francke, B Bakay, J D Connor, J G Coldwell, W L Nyhan
Am J Hum Genet. 1974 Jul; 26(4): 512–522.
PMCID:
PMC1762591
SummaryPage BrowsePDF–1.0M
6.
Absence of measurable linkage between the loci for hypoxanthine-guanine phosphoribosyltransferase and deutan colorblindness.
B T Emmerson, L Thompson, D C Wallace, M A Spence
Am J Hum Genet. 1974 Jan; 26(1): 78–82.
PMCID:
PMC1762560
SummaryPage BrowsePDF–527K
7.
Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich.
N F Cariello, J K Scott, A G Kat, W G Thilly, P Keohavong
Am J Hum Genet. 1988 May; 42(5): 726–734.
PMCID:
PMC1715170
SummaryPage BrowsePDF–1.7M
8.
Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group.
M L Greene, W L Nyhan, J E Seegmiller
Am J Hum Genet. 1970 Jan; 22(1): 50–54.
PMCID:
PMC1706515
SummaryPage BrowsePDF–512K
9.
Inheritance of purine phosphoribosyltransferases in man.
J F Henderson, W N Kelley, F M Rosenbloom, J E Seegmiller
Am J Hum Genet. 1969 Jan; 21(1): 61–70.
PMCID:
PMC1706393
SummaryPage BrowsePDF–1.0M
10.
Estimation of male to female ratio of mutation rates from carrier-detection tests in X-linked disorders.
R M Winter
Am J Hum Genet. 1980 Jul; 32(4): 582–588.
PMCID:
PMC1686120
SummaryPage BrowsePDF–660K
11.
A probable sex difference in some mutation rates.
F Vogel
Am J Hum Genet. 1977 May; 29(3): 312–319.
PMCID:
PMC1685321
SummaryPage BrowsePDF–930K
12.
Answer to criticism of Morton and Lalouel
U. Francke, J. Felsenstein, S. M. Gartler, W. L. Nyhan, J. E. Seegmiller
Am J Hum Genet. 1977 May; 29(3): 307–311.
PMCID:
PMC1685308
SummaryPage BrowsePDF–504K
13.
Genetic epidemiology of Lesch-Nyhan disease.
N E Morton, J M Lalouel
Am J Hum Genet. 1977 May; 29(3): 304–311.
PMCID:
PMC1685301
SummaryPage BrowsePDF–361K
14.
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.
U Francke, J Felsenstein, S M Gartler, B R Migeon, J Dancis, J E Seegmiller, F Bakay, W L Nyhan
Am J Hum Genet. 1976 Mar; 28(2): 123–137.
Correction in:
Am J Hum Genet. 1976 May; 28(3): 311.
PMCID:
PMC1684918
SummaryPage BrowsePDF–1.6M
15.
Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
B L Davidson, S A Tarlé, M Van Antwerp, D A Gibbs, R W Watts, W N Kelley, T D Palella
Am J Hum Genet. 1991 May; 48(5): 951–958.
PMCID:
PMC1683055
SummaryPage BrowsePDF–1.7M
16.
Hypoxanthine guanine phosphoribosyl transferase deficiency presenting with gout and renal failure in infancy.
P C Holland, M J Dillon, J Pincott, H A Simmonds, T M Barratt
Arch Dis Child. 1983 Oct; 58(10): 831–833. doi: 10.1136/adc.58.10.831
PMCID:
PMC1628265
SummaryPage BrowsePDF–776K
17.
Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.
J M Wilson, P Frossard, R L Nussbaum, C T Caskey, W N Kelley
J Clin Invest. 1983 Sep; 72(3): 767–772. doi: 10.1172/JCI111047
PMCID:
PMC1129241
SummaryPage BrowsePDF–1.0M
18.
Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects.
B L Davidson, S J Chin, J M Wilson, W N Kelley, T D Palella
J Clin Invest. 1988 Dec; 82(6): 2164–2167. doi: 10.1172/JCI113839
PMCID:
PMC442801
SummaryPage BrowsePDF–741K
19.
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.
J M Wilson, W N Kelley
J Clin Invest. 1983 May; 71(5): 1331–1335. doi: 10.1172/JCI110884
PMCID:
PMC436995
SummaryPage BrowsePDF–818K
20.
Human X-Linked genes regionally mapped utilizing X-autosome translocations and somatic cell hybrids.
T B Shows, J A Brown
Proc Natl Acad Sci U S A. 1975 Jun; 72(6): 2125–2129. doi: 10.1073/pnas.72.6.2125
PMCID:
PMC432709
SummaryPage BrowsePDF–1.2M

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