Published in Hum Mutat on January 01, 1996
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Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. J Med Genet (2006) 1.27
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Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression. J Med Genet (1999) 1.17
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GAB2 gene does not modify the risk of Alzheimer's disease in Spanish APOE 4 carriers. J Nutr Health Aging (2009) 1.14
A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters. Am J Hum Genet (1998) 1.13
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Measurement of the WW + WZ production cross section using the lepton + jets final state at CDF II. Phys Rev Lett (2010) 1.12
Chromosome specific markers reveal conserved linkage groups in spite of extensive chromosomal size variation in Trypanosoma cruzi. Mol Biochem Parasitol (1995) 1.12
Vagus nerve stimulation during rehabilitative training improves forelimb strength following ischemic stroke. Neurobiol Dis (2013) 1.12
First observation of the decay Bs0-->Ds-Ds+ and measurement of its branching ratio. Phys Rev Lett (2008) 1.11
Esterification of all-trans-retinol in normal human epithelial cell strains and carcinoma lines from oral cavity, skin and breast: reduced expression of lecithin:retinol acyltransferase in carcinoma lines. Carcinogenesis (2000) 1.11
Exploring the mechanism(s) of endometriosis-related infertility: an analysis of embryo development and implantation in assisted reproduction. Hum Reprod (1995) 1.10
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Chromosomal homology and molecular organization of Muller's elements D and E in the Drosophila repleta species group. Genetics (1997) 1.09
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A novel genetic study of Chinese families with autosomal recessive retinitis pigmentosa. Ann Hum Genet (2006) 1.07
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Measurement of sigma chi c2 B(chi c2-->J/psi gamma)/sigma chi c1 B(chi c1 -->J/psi gamma) in pp collisions at square root s=1.96 TeV. Phys Rev Lett (2007) 1.07
On the fertility effects of pericentric inversions. Genetics (1997) 1.07
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. Hum Mutat (2006) 1.07
Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families. Ann Hum Genet (2007) 1.07
Precise measurement of the W-boson mass with the CDF II detector. Phys Rev Lett (2012) 1.06
RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease. J Med Genet (2000) 1.05
Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249. J Med Genet (2005) 1.05
Direct measurement of the W production charge asymmetry in pp collisions at square root s=1.96 TeV. Phys Rev Lett (2009) 1.04
Search for long-lived massive charged particles in 1.96 TeV pp collisions. Phys Rev Lett (2009) 1.03
An outbreak of plague including cases with probable pneumonic infection, Ecuador, 1998. Trans R Soc Trop Med Hyg (2000) 1.03
Measurement of d sigma/dM and forward-backward charge asymmetry for high-mass Drell-Yan e(+)e(-) pairs from pp macro collisions at square root of s = 1.8 TeV. Phys Rev Lett (2001) 1.02
Influence of thyroid hormone receptors on breast cancer cell proliferation. Ann Oncol (2005) 1.02
Chromosome 9p deletions in cutaneous malignant melanoma tumors: the minimal deleted region involves markers outside the p16 (CDKN2) gene. Am J Hum Genet (1995) 1.02
Association of the shared epitope with radiological severity of rheumatoid arthritis. J Rheumatol (1996) 1.01
Concentrations of estrone, estradiol and their sulfates, and evaluation of sulfatase and aromatase activities in patients with breast fibroadenoma. Int J Cancer (1997) 1.01
MR of Toxoplasma encephalitis: signal characteristics on T2-weighted images and pathologic correlation. J Comput Assist Tomogr (1996) 1.01
Observation of Bs(0)-Bs(0) oscillations. Phys Rev Lett (2006) 1.00
Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease. J Clin Endocrinol Metab (1998) 0.99
A novel point variant in NTRK3, R645C, suggests a role of this gene in the pathogenesis of Hirschsprung disease. Ann Hum Genet (2008) 0.99
Evaluation of transplant procurement management courses: an educational project as a tool for the optimization of transplant coordination. Transplant Proc (2003) 0.99
Müllerian adenosarcoma of the cervix with heterologous elements: report of a case and review of the literature. Gynecol Oncol (2002) 0.98
Isolation of toxoplasma from soil. J Parasitol (1973) 0.98
The relationship between crime and drugs: what we have learned in recent decades. J Psychoactive Drugs (2001) 0.98
Gut ammonia production and its modulation. Metab Brain Dis (2008) 0.97
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Endemicity of toxoplasmosis in Costa Rica. Am J Epidemiol (1981) 0.97
Search for large extra dimensions in final states containing one photon or jet and large missing transverse energy produced in pp collisions at square root[s]=1.96 TeV. Phys Rev Lett (2008) 0.97
Intracytoplasmic sperm injection: a treatment for extreme oligospermia. J Urol (1996) 0.96
Polarizations of J/psi and psi(2S) mesons produced in pp collisions at square root s = 1.96 TeV. Phys Rev Lett (2007) 0.96
Comparison study of MOSFET detectors and diodes for entrance in vivo dosimetry in 18 MV x-ray beams. Med Phys (2004) 0.96
Conserved group-specific epitopes of the circumsporozoite proteins revealed by antibodies to synthetic peptides. J Immunol (1985) 0.96
Direct identification of pathogens from positive blood cultures using matrix-assisted laser desorption-ionization time-of-flight mass spectrometry. Clin Microbiol Infect (2013) 0.95
Intermediate and transport hosts of Toxoplasma gondii in Costa Rica. Am J Trop Med Hyg (1980) 0.95
Polymorphisms of histamine-metabolizing enzymes and clinical manifestations of asthma and allergic rhinitis. Clin Exp Allergy (2007) 0.95
Measurement of the top-quark mass in all-hadronic decays in pp collisions at CDF II. Phys Rev Lett (2007) 0.95
Comparative mapping of cosmids and gene clones from a 1.6 Mb chromosomal region of Drosophila melanogaster in three species of the distantly related subgenus Drosophila. Chromosoma (1999) 0.95
Virulence and antifungal susceptibility of environmental and clinical isolates of Cryptococcus neoformans from Puerto Rico. Mycopathologia (1989) 0.95
Cross-reactive antigens of Haemonchus contortus adult worms in Teladorsagia circumcincta infected goats. Vet Res (1999) 0.94
Measurement of the strong coupling constant from inclusive jet production at the Tevatron pp collider. Phys Rev Lett (2002) 0.94
Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs. Ann Hum Genet (2007) 0.94
Isolation of Toxoplasma from cat feces deposited in false attics of homes in Costa Rica. J Parasitol (1977) 0.94
Administration of a liposomal FGF-2 peptide vaccine leads to abrogation of FGF-2-mediated angiogenesis and tumor development. Vaccine (2000) 0.94
Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2). Ophthalmic Genet (2000) 0.94
Analysis of CCR5-Delta 32 and CCR2-V64I polymorphisms in a cohort of Spanish HCV patients using real-time polymerase chain reaction and fluorescence resonance energy transfer technologies. J Viral Hepat (2004) 0.93
Search for gluinos and scalar quarks in pp collisions at square root[s] = 1.8 TeV using the missing energy plus multijets signature. Phys Rev Lett (2002) 0.93