DAVID NELSON to Humans
This is a "connection" page, showing publications DAVID NELSON has written about Humans.
Connection Strength
0.492
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Evaluation of machine learning algorithms for predicting direct-acting antiviral treatment failure among patients with chronic hepatitis C infection. Sci Rep. 2022 10 27; 12(1):18094.
Score: 0.017
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Stephen T. Warren: Human geneticist who advanced understanding of mutational mechanisms and developmental disorders. Proc Natl Acad Sci U S A. 2021 08 24; 118(34).
Score: 0.015
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Ectopic expression of CGG-repeats alters ovarian response to gonadotropins and leads to infertility in a murine FMR1 premutation model. Hum Mol Genet. 2021 05 29; 30(10):923-938.
Score: 0.015
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Assessing the Safety of Direct-Acting Antiviral Agents for Hepatitis C. JAMA Netw Open. 2019 06 05; 2(6):e194765.
Score: 0.013
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2018 Presidential Address: Who Are We? Am J Hum Genet. 2019 03 07; 104(3):363-372.
Score: 0.013
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Turning the corner from observation to intervention in human genetics. J Genet Genomics. 2018 02 20; 45(2):57-59.
Score: 0.012
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Pragmatic trial of a Study Navigator Model (NAU) vs. Ambassador Model (N+) to increase enrollment to health research among community members who use illicit drugs. Drug Alcohol Depend. 2017 06 01; 175:146-150.
Score: 0.011
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2016 William Allan Award Introduction: James Gusella. Am J Hum Genet. 2017 Mar 02; 100(3):385-386.
Score: 0.011
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All-oral 12-week treatment with daclatasvir plus sofosbuvir in patients with hepatitis C virus genotype 3 infection: ALLY-3 phase III study. Hepatology. 2015 Apr; 61(4):1127-35.
Score: 0.010
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The Fragile X proteins Fmrp and Fxr2p cooperate to regulate glucose metabolism in mice. Hum Mol Genet. 2015 Apr 15; 24(8):2175-84.
Score: 0.010
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CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndrome. Hum Mol Genet. 2014 Nov 15; 23(22):5906-15.
Score: 0.009
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The unstable repeats--three evolving faces of neurological disease. Neuron. 2013 Mar 06; 77(5):825-43.
Score: 0.009
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Subsequent pregnancy outcomes in women previously diagnosed with subclinical hypothyroidism. Am J Perinatol. 2014 Jan; 31(1):77-84.
Score: 0.009
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The role of ribavirin in direct acting antiviral drug regimens for chronic hepatitis C. Liver Int. 2012 Feb; 32 Suppl 1:103-7.
Score: 0.008
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X-cess of variants in XLMR. Nat Genet. 2009 May; 41(5):510-2.
Score: 0.007
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Ectopic expression of CGG containing mRNA is neurotoxic in mammals. Hum Mol Genet. 2009 Jul 01; 18(13):2443-51.
Score: 0.007
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Identification and characterization of a repeat-in-toxin gene cluster in Vibrio anguillarum. Infect Immun. 2008 Jun; 76(6):2620-32.
Score: 0.006
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Argonaute-2-dependent rescue of a Drosophila model of FXTAS by FRAXE premutation repeat. Hum Mol Genet. 2007 Oct 01; 16(19):2326-32.
Score: 0.006
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Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet A. 2007 Jun 15; 143A(12):1358-65.
Score: 0.006
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International integrated database for the evaluation of severe sepsis and drotrecogin alfa (activated) therapy: 28-day survival and safety. J Crit Care. 2007 Jun; 22(2):142-52.
Score: 0.006
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NEMO, NFkappaB signaling and incontinentia pigmenti. Curr Opin Genet Dev. 2006 Jun; 16(3):282-8.
Score: 0.005
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Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier? Am J Hum Genet. 2006 Jan; 78(1):125-9.
Score: 0.005
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Genetics. The critical region in trisomy 21. Science. 2004 Oct 22; 306(5696):619-21.
Score: 0.005
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Personal journeys to and in human genetics and dysmorphology. Am J Med Genet A. 2024 06; 194(6):e63514.
Score: 0.005
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The truth about mouse, human, worms and yeast. Hum Genomics. 2004 Jan; 1(2):146-9.
Score: 0.005
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Human genetics. Primate shadow play. Science. 2003 Feb 28; 299(5611):1331-3.
Score: 0.004
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FMR2 function: insight from a mouse knockout model. Cytogenet Genome Res. 2003; 100(1-4):129-39.
Score: 0.004
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Haplotype and linkage disequilibrium architecture for human cancer-associated genes. Genome Res. 2002 Dec; 12(12):1846-53.
Score: 0.004
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The human secretin gene: fine structure in 11p15.5 and sequence variation in patients with autism. Genomics. 2002 Aug; 80(2):185-94.
Score: 0.004
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Identification of PSMB5 as a genetic modifier of fragile X-associated tremor/ataxia syndrome. Proc Natl Acad Sci U S A. 2022 05 31; 119(22):e2118124119.
Score: 0.004
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Complex SNP-based haplotypes in three human helicases: implications for cancer association studies. Genome Res. 2002 Apr; 12(4):627-39.
Score: 0.004
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Physical and genetic characterization reveals a pseudogene, an evolutionary junction, and unstable loci in distal Xq28. Genomics. 2002 Jan; 79(1):31-40.
Score: 0.004
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Comparative genomic sequence analysis of the FXR gene family: FMR1, FXR1, and FXR2. Genomics. 2001 Dec; 78(3):169-77.
Score: 0.004
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A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. Hum Mol Genet. 2001 Sep 15; 10(19):2171-9.
Score: 0.004
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A Pragmatic, Randomized Controlled Trial of Oral Antivirals for the Treatment of Chronic Hepatitis C: The PRIORITIZE Study. Hepatology. 2021 12; 74(6):2952-2964.
Score: 0.004
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Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR. J Mol Diagn. 2021 08; 23(8):941-951.
Score: 0.004
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Prevalence and cardiometabolic correlates of ketohexokinase gene variants among UK Biobank participants. PLoS One. 2021; 16(2):e0247683.
Score: 0.004
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SNPs, lonkage disequilibrium, human genetic variation and Native American culture. Trends Genet. 2001 Jan; 17(1):15-6.
Score: 0.004
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International Union of Basic and Clinical Pharmacology. CX. Classification of Receptors for 5-hydroxytryptamine; Pharmacology and Function. Pharmacol Rev. 2021 01; 73(1):310-520.
Score: 0.004
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Haplotypes at ATM identify coding-sequence variation and indicate a region of extensive linkage disequilibrium. Am J Hum Genet. 2000 Dec; 67(6):1437-51.
Score: 0.004
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(Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features. Hum Mol Genet. 2000 May 01; 9(8):1145-59.
Score: 0.003
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Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments. Ann Neurol. 2019 09; 86(3):332-343.
Score: 0.003
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Alternative splicing in the murine and human FXR1 genes. Genomics. 1999 Jul 15; 59(2):193-202.
Score: 0.003
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Evolution in range expansions with competition at rough boundaries. J Theor Biol. 2019 10 07; 478:153-160.
Score: 0.003
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Cytochrome P450 Monooxygenase CYP139 Family Involved in the Synthesis of Secondary Metabolites in 824 Mycobacterial Species. Int J Mol Sci. 2019 May 31; 20(11).
Score: 0.003
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Metabolic pathways modulate the neuronal toxicity associated with fragile X-associated tremor/ataxia syndrome. Hum Mol Genet. 2019 03 15; 28(6):980-991.
Score: 0.003
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Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy. Nat Commun. 2019 02 15; 10(1):797.
Score: 0.003
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Molecular definition of pericentric inversion breakpoints occurring during the evolution of humans and chimpanzees. Genomics. 1998 Jun 15; 50(3):368-72.
Score: 0.003
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Blooming of Unusual Cytochrome P450s by Tandem Duplication in the Pathogenic Fungus Conidiobolus coronatus. Int J Mol Sci. 2018 06 09; 19(6).
Score: 0.003
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Natural History of Ground-Glass Lesions Among Patients With Previous Lung Cancer. Ann Thorac Surg. 2018 06; 105(6):1671-1677.
Score: 0.003
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Multisite Investigation of Outcomes With?Implementation of CYP2C19 Genotype-Guided Antiplatelet Therapy After Percutaneous Coronary Intervention. JACC Cardiovasc Interv. 2018 01 22; 11(2):181-191.
Score: 0.003
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Glecaprevir and Pibrentasvir in Patients with HCV and Severe Renal Impairment. N Engl J Med. 2017 10 12; 377(15):1448-1455.
Score: 0.003
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Infant outcomes among women with Zika virus infection?during pregnancy: results of a large prenatal?Zika?screening program. Am J Obstet Gynecol. 2017 Mar; 216(3):292.e1-292.e8.
Score: 0.003
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Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2. Hum Mol Genet. 1996 Nov; 5(11):1777-83.
Score: 0.003
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Impact of metabolic acidemia at birth on neonatal outcomes in infants born before 34 weeks' gestation. J Matern Fetal Neonatal Med. 2017 Aug; 30(16):1902-1905.
Score: 0.003
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Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populations. Am J Med Genet. 1996 Jul 12; 64(1):220-5.
Score: 0.003
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Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution. Hum Mol Genet. 1996 Jul; 5(7):899-912.
Score: 0.003
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Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat Genet. 1996 May; 13(1):109-13.
Score: 0.003
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Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome. Hum Mol Genet. 1996 Mar; 5(3):319-30.
Score: 0.003
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Interferon-free therapy for genotype 1 hepatitis C in liver transplant recipients: Real-world experience from the hepatitis C therapeutic registry and research network. Liver Transpl. 2016 Jan; 22(1):24-33.
Score: 0.003
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Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions. Hum Mol Genet. 1995 Dec; 4(12):2199-208.
Score: 0.003
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A muscle-specific DNase I-like gene in human Xq28. Hum Mol Genet. 1995 Sep; 4(9):1557-64.
Score: 0.003
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Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome. Nat Genet. 1995 Aug; 10(4):483-5.
Score: 0.003
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An analysis of population-based prenatal screening for overt hypothyroidism. Am J Obstet Gynecol. 2015 Oct; 213(4):565.e1-6.
Score: 0.003
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Positional cloning reaches maturity. Curr Opin Genet Dev. 1995 Jun; 5(3):298-303.
Score: 0.002
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The fragile X syndromes. Semin Cell Biol. 1995 Feb; 6(1):5-11.
Score: 0.002
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The GABAA receptor is an FMRP target with therapeutic potential in fragile X syndrome. Cell Cycle. 2015; 14(18):2985-95.
Score: 0.002
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De novo mutation in three families with multigenerational incontinentia pigmenti. Am J Hum Genet. 1994 Dec; 55(6):1279-81.
Score: 0.002
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Origin of the response to adrenal and sex steroids: Roles of promiscuity and co-evolution of enzymes and steroid receptors. J Steroid Biochem Mol Biol. 2015 Jul; 151:12-24.
Score: 0.002
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Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Nat Genet. 1994 Nov; 8(3):229-35.
Score: 0.002
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MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes. Eur J Hum Genet. 2015 Jun; 23(6):781-9.
Score: 0.002
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A de novo deletion in FMR1 in a patient with developmental delay. Hum Mol Genet. 1994 Sep; 3(9):1705-6.
Score: 0.002
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Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat Genet. 1994 Sep; 8(1):88-94.
Score: 0.002
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Treatment of HCV with ABT-450/r-ombitasvir and dasabuvir with ribavirin. N Engl J Med. 2014 Apr 24; 370(17):1594-603.
Score: 0.002
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Fine structure of the human FMR1 gene. Hum Mol Genet. 1994 Apr; 3(4):684-5.
Score: 0.002
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Frequency and stability of the fragile X premutation. Hum Mol Genet. 1994 Mar; 3(3):393-8.
Score: 0.002
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Advances in molecular analysis of fragile X syndrome. JAMA. 1994 Feb 16; 271(7):536-42.
Score: 0.002
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Regional assignment of 19 X-linked ESTs. Hum Mol Genet. 1993 Nov; 2(11):1901-5.
Score: 0.002
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Genome-wide alteration of 5-hydroxymethylcytosine in a mouse model of fragile X-associated tremor/ataxia syndrome. Hum Mol Genet. 2014 Feb 15; 23(4):1095-107.
Score: 0.002
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Trinucleotide repeat expansions in neurological disease. Curr Opin Neurobiol. 1993 Oct; 3(5):752-9.
Score: 0.002
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Alternative splicing in the fragile X gene FMR1. Hum Mol Genet. 1993 Aug; 2(8):1348.
Score: 0.002
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Relationship between muscle mass and muscle strength, and the impact of comorbidities: a population-based, cross-sectional study of older adults in the United States. BMC Geriatr. 2013 Jul 16; 13:74.
Score: 0.002
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Trinucleotide repeat instability: when and where? Nat Genet. 1993 Jun; 4(2):107-8.
Score: 0.002
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Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration. Proc Natl Acad Sci U S A. 2013 May 07; 110(19):7778-83.
Score: 0.002
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Methods for finding genes. A major rate-limiting step in positional cloning. Genet Anal Tech Appl. 1993 Apr; 10(2):29-41.
Score: 0.002
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Alternative splicing in the fragile X gene FMR1. Hum Mol Genet. 1993 Apr; 2(4):399-404.
Score: 0.002
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CC genotype donors for the interleukin-28B single nucleotide polymorphism are associated with better outcomes in hepatitis C after liver transplant. Liver Int. 2013 Jan; 33(1):72-8.
Score: 0.002
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Sonographic findings in two cases of complicated pregnancy in women previously treated with endometrial ablation. J Clin Ultrasound. 2013 Nov-Dec; 41(9):566-9.
Score: 0.002
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Triplet repeat mutations in human disease. Science. 1992 May 08; 256(5058):784-9.
Score: 0.002
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AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genet Med. 2012 Aug; 14(8):729-36.
Score: 0.002
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Chemical screen reveals small molecules suppressing fragile X premutation rCGG repeat-mediated neurodegeneration in Drosophila. Hum Mol Genet. 2012 May 01; 21(9):2068-75.
Score: 0.002
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FXR1P but not FMRP regulates the levels of mammalian brain-specific microRNA-9 and microRNA-124. J Neurosci. 2011 Sep 28; 31(39):13705-9.
Score: 0.002
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Retrotransposon activation contributes to fragile X premutation rCGG-mediated neurodegeneration. Hum Mol Genet. 2012 Jan 01; 21(1):57-65.
Score: 0.002
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Expression of an IRF-3 fusion protein and mouse estrogen receptor, inhibits hepatitis C viral replication in RIG-I-deficient Huh 7.5 cells. Virol J. 2011 Sep 21; 8:445.
Score: 0.002
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Absence of expression of the FMR-1 gene in fragile X syndrome. Cell. 1991 Aug 23; 66(4):817-22.
Score: 0.002
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Alu-primed polymerase chain reaction for regional assignment of 110 yeast artificial chromosome clones from the human X chromosome: identification of clones associated with a disease locus. Proc Natl Acad Sci U S A. 1991 Jul 15; 88(14):6157-61.
Score: 0.002
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Desmoplakin and talin2 are novel mRNA targets of fragile X-related protein-1 in cardiac muscle. Circ Res. 2011 Jul 22; 109(3):262-71.
Score: 0.002
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Ablation of Fmrp in adult neural stem cells disrupts hippocampus-dependent learning. Nat Med. 2011 May; 17(5):559-65.
Score: 0.002
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Site-specific phosphorylation of the middle molecular weight human neurofilament protein in transfected non-neuronal cells. J Neurosci. 1990 Jul; 10(7):2428-37.
Score: 0.002
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Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources. Proc Natl Acad Sci U S A. 1989 Sep; 86(17):6686-90.
Score: 0.002
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Reversal of sensorimotor gating abnormalities in Fmr1 knockout mice carrying a human Fmr1 transgene. Behav Neurosci. 2008 Dec; 122(6):1371-7.
Score: 0.002
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Social behavior in Fmr1 knockout mice carrying a human FMR1 transgene. Behav Neurosci. 2008 Jun; 122(3):710-5.
Score: 0.002
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The human mid-size neurofilament subunit: a repeated protein sequence and the relationship of its gene to the intermediate filament gene family. EMBO J. 1987 Jun; 6(6):1617-26.
Score: 0.001
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Process of care and outcomes in patients with peripheral arterial disease. J Gen Intern Med. 2007 Jul; 22(7):942-8.
Score: 0.001
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Virological response and safety outcomes in therapy-nai ve patients treated for chronic hepatitis C with taribavirin or ribavirin in combination with pegylated interferon alfa-2a: a randomized, phase 2 study. J Hepatol. 2007 Jul; 47(1):51-9.
Score: 0.001
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Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation. Exp Cell Res. 2007 Jan 15; 313(2):244-53.
Score: 0.001
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Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenes. Exp Neurol. 2007 Jan; 203(1):233-40.
Score: 0.001
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The finished DNA sequence of human chromosome 12. Nature. 2006 03 16; 440(7082):346-51.
Score: 0.001
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Benefits of telephone care over primary care for smoking cessation: a randomized trial. Arch Intern Med. 2006 Mar 13; 166(5):536-42.
Score: 0.001
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Gene replacement therapy for inborn errors of purine metabolism. Cold Spring Harb Symp Quant Biol. 1986; 51 Pt 2:1065-71.
Score: 0.001
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Positive selection of a pre-expansion CAG repeat of the human SCA2 gene. PLoS Genet. 2005 Sep; 1(3):e41.
Score: 0.001
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Novel type I interferon IL-28A suppresses hepatitis C viral RNA replication. Virol J. 2005 Sep 07; 2:80.
Score: 0.001
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Defective Jak-Stat activation in hepatoma cells is associated with hepatitis C viral IFN-alpha resistance. J Interferon Cytokine Res. 2005 Sep; 25(9):528-39.
Score: 0.001
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Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome. Neuron. 2005 Aug 04; 47(3):339-52.
Score: 0.001
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The DNA sequence of the human X chromosome. Nature. 2005 Mar 17; 434(7031):325-37.
Score: 0.001
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High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. Am J Med Genet. 1994 Jul 15; 51(4):298-308.
Score: 0.001
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Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet. 2004 Jun; 74(6):1216-24.
Score: 0.001
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Stabilized beta-catenin promotes hepatocyte proliferation and inhibits TNFalpha-induced apoptosis. Lab Invest. 2004 Mar; 84(3):332-41.
Score: 0.001
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Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway. Nat Neurosci. 2004 Feb; 7(2):113-7.
Score: 0.001
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Gene expression associated with interferon alfa antiviral activity in an HCV replicon cell line. Hepatology. 2003 May; 37(5):1180-8.
Score: 0.001
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Cytogenetic analysis of obsessive-compulsive disorder (OCD): identification of a FRAXE fragile site. Am J Med Genet A. 2003 Apr 01; 118A(1):25-8.
Score: 0.001
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Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell. 1991 Dec 20; 67(6):1047-58.
Score: 0.001
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Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. Hum Mol Genet. 2001 Oct 15; 10(22):2557-67.
Score: 0.001
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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 1991 May 31; 65(5):905-14.
Score: 0.001
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Initial sequencing and analysis of the human genome. Nature. 2001 Feb 15; 409(6822):860-921.
Score: 0.001
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Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma). Am J Hum Genet. 2001 Mar; 68(3):765-71.
Score: 0.001
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Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet. 2000 Oct; 26(2):191-4.
Score: 0.001
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Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2. Am J Med Genet. 2000 Sep 04; 94(1):79-84.
Score: 0.001
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The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins. Hum Mol Genet. 2000 Jun 12; 9(10):1487-93.
Score: 0.001
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Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature. 2000 May 25; 405(6785):466-72.
Score: 0.001
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Proposal for a human genome evolution project. Mol Phylogenet Evol. 2000 Apr; 15(1):1-4.
Score: 0.001
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Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2. Am J Med Genet. 2000 Mar 20; 91(3):241-4.
Score: 0.001
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Mutation analysis of the DKC1 gene in incontinentia pigmenti. J Med Genet. 1999 Nov; 36(11):860-2.
Score: 0.001
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Reduced mRNA for G3BP in fragile X cells: evidence of FMR1 gene regulation. Am J Med Genet. 1999 May 28; 84(3):268-71.
Score: 0.001
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Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1. Hum Mol Genet. 1998 Nov; 7(12):1935-46.
Score: 0.001
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A mutation in human CMP-sialic acid hydroxylase occurred after the Homo-Pan divergence. Proc Natl Acad Sci U S A. 1998 Sep 29; 95(20):11751-6.
Score: 0.001
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MSG1 (melanocyte-specific gene 1): mapping to chromosome Xq13.1, genomic organization, and promoter analysis. Genomics. 1998 Aug 01; 51(3):401-7.
Score: 0.001
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Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation. Biochemistry. 1998 Feb 24; 37(8):2701-8.
Score: 0.001
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X-linked situs abnormalities result from mutations in ZIC3. Nat Genet. 1997 Nov; 17(3):305-8.
Score: 0.001
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Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity. Hum Mol Genet. 1997 Jul; 6(7):991-1002.
Score: 0.001
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Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet. 1997 Mar; 6(3):479-86.
Score: 0.001
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Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype. Am J Hum Genet. 1997 Jan; 60(1):103-12.
Score: 0.001
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A yeast artificial chromosome (YAC) contig encompassing the critical region of the X-linked lymphoproliferative disease (XLP) locus. Genomics. 1997 Jan 01; 39(1):55-65.
Score: 0.001
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Large domains of apparent delayed replication timing associated with triplet repeat expansion at FRAXA and FRAXE. Am J Hum Genet. 1996 Aug; 59(2):407-16.
Score: 0.001
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FMR1 in global populations. Am J Hum Genet. 1996 Mar; 58(3):513-22.
Score: 0.001
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Learning-disabled males with a fragile X CGG expansion in the upper premutation size range. Pediatrics. 1996 Jan; 97(1):122-6.
Score: 0.001
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Anomalous rapid electrophoretic mobility of DNA containing triplet repeats associated with human disease genes. Biochemistry. 1995 Dec 12; 34(49):16125-31.
Score: 0.001
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Gonadal mosaicism for incontinentia pigmenti in a healthy male. J Med Genet. 1995 Nov; 32(11):887-90.
Score: 0.001
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130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus. Genome Res. 1995 Aug; 5(1):71-8.
Score: 0.001
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Overexpression of the human NFM subunit in transgenic mice modifies the level of endogenous NFL and the phosphorylation state of NFH subunits. J Cell Biol. 1995 Jun; 129(6):1629-40.
Score: 0.001
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An n-allele model for progressive amplification in the FMR1 locus. Proc Natl Acad Sci U S A. 1995 May 23; 92(11):4833-7.
Score: 0.001
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The fragile X premutation in carriers and its effect on mutation size in offspring. Am J Hum Genet. 1995 May; 56(5):1147-55.
Score: 0.001
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The gene encoding the VP16-accessory protein HCF (HCFC1) resides in human Xq28 and is highly expressed in fetal tissues and the adult kidney. Genomics. 1995 Jan 20; 25(2):462-8.
Score: 0.001
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Fragile X syndrome in a normal IQ male with learning and emotional problems. J Am Acad Child Adolesc Psychiatry. 1994 Nov-Dec; 33(9):1316-21.
Score: 0.001
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Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes. Hum Mol Genet. 1994 Oct; 3(10):1823-7.
Score: 0.001
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Reliability of diagnostic assessment of normal and premutation status in the fragile X syndrome using DNA testing. Am J Med Genet. 1994 Jul 15; 51(4):339-45.
Score: 0.001
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Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase. Am J Med Genet. 1994 Jul 15; 51(4):522-6.
Score: 0.001
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High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome. Hum Mol Genet. 1993 Oct; 2(10):1659-65.
Score: 0.001
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Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat. Nat Genet. 1993 Jul; 4(3):244-51.
Score: 0.001
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High-resolution mapping of probes near the X-linked lymphoproliferative disease (XLP) locus. Genomics. 1993 Jul; 17(1):163-70.
Score: 0.001
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Characterization of three overlapping deletions causing X-linked lymphoproliferative disease. Genomics. 1993 Apr; 16(1):254-5.
Score: 0.001
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Direct versus indirect molecular diagnosis of fragile X mental retardation in 40 German families at risk. J Med Genet. 1993 Mar; 30(3):193-7.
Score: 0.001
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Physical mapping of Xq24-25 around loci closely linked to the X-linked lymphoproliferative syndrome locus: an overlapping YAC map and linkage between DXS12, DXS42, and DXS37. Eur J Hum Genet. 1993; 1(1):64-71.
Score: 0.001
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Report and abstracts of the Fourth International Workshop on Human X Chromosome Mapping 1993. St. Louis, Missouri, May 9-12, 1993. Cytogenet Cell Genet. 1993; 64(3-4):147-94.
Score: 0.001
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Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome. Nat Genet. 1993 Jan; 3(1):36-43.
Score: 0.001
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Frequent small amplifications in the FMR-1 gene in fra(X) families: limits to the diagnosis of 'premutations'. J Med Genet. 1992 Nov; 29(11):802-6.
Score: 0.001
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Genome analysis and the human X chromosome. Science. 1992 Oct 02; 258(5079):103-9.
Score: 0.001
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Cloning of human and bovine homologs of SNF2/SWI2: a global activator of transcription in yeast S. cerevisiae. Nucleic Acids Res. 1992 Sep 11; 20(17):4649-55.
Score: 0.001
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DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet. 1992 Sep; 1(6):397-400.
Score: 0.001
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PCR amplification and analysis of yeast artificial chromosomes. Genomics. 1992 Aug; 13(4):1303-6.
Score: 0.001
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The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature. 1992 Jul 16; 358(6383):239-42.
Score: 0.001
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Intragenic probe used for diagnostics in fragile X families. Am J Med Genet. 1992 Apr 15-May 1; 43(1-2):192-6.
Score: 0.000
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Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site. Am J Med Genet. 1992 Apr 15-May 1; 43(1-2):237-43.
Score: 0.000
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Isolation of cDNA sequences around the chromosomal breakpoint in a female with Lowe syndrome by direct screening of cDNA libraries with yeast artificial chromosomes. J Inherit Metab Dis. 1992; 15(4):526-31.
Score: 0.000
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Direct cloning of human transcripts with HnRNA from hybrid cell lines. Science. 1990 Aug 10; 249(4969):652-5.
Score: 0.000
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Report of the X chromosome workshop. Genomics. 1990 Aug; 7(4):647-54.
Score: 0.000
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The large DNA insert cloning workshop. Genomics. 1990 Aug; 7(4):654-60.
Score: 0.000
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Rapid isolation of DNA probes within specific chromosome regions by interspersed repetitive sequence polymerase chain reaction. Genomics. 1990 Mar; 6(3):475-81.
Score: 0.000
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Expression and regulation of human low-density lipoprotein receptors in Chinese hamster ovary cells. Nature. 1984 Feb 23-29; 307(5953):742-5.
Score: 0.000