Published in Hum Mutat on June 01, 2001
Cone-like morphological, molecular, and electrophysiological features of the photoreceptors of the Nrl knockout mouse. Invest Ophthalmol Vis Sci (2005) 2.51
Regulation of photoreceptor gene expression by Crx-associated transcription factor network. Brain Res (2007) 1.63
Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. Proc Natl Acad Sci U S A (2004) 1.42
Rod photoreceptor differentiation in fetal and infant human retina. Exp Eye Res (2008) 1.04
Intrinsic control of mammalian retinogenesis. Cell Mol Life Sci (2012) 0.93
Combinatorial regulation of photoreceptor differentiation factor, neural retina leucine zipper gene NRL, revealed by in vivo promoter analysis. J Biol Chem (2011) 0.90
Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the beta-subunit of transducin with digenic disease. Mol Vis (2007) 0.84
FIZ1 is expressed during photoreceptor maturation, and synergizes with NRL and CRX at rod-specific promoters in vitro. Exp Eye Res (2006) 0.79
Mutations associated with retinopathies alter mitogen-activated protein kinase-induced phosphorylation of neural retina leucine-zipper. Mol Vis (2007) 0.76
Arrestin 1 and Cone Arrestin 4 Have Unique Roles in Visual Function in an All-Cone Mouse Retina. Invest Ophthalmol Vis Sci (2015) 0.75
Increased risk of tumor seeding after percutaneous radiofrequency ablation for single hepatocellular carcinoma. Hepatology (2001) 6.88
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology (2012) 3.12
Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics (1987) 3.03
Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nat Genet (1998) 2.87
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science (1998) 2.84
Magnetic resonance for assessment of disease activity and severity in ileocolonic Crohn's disease. Gut (2009) 2.60
Treatment of hepatocellular carcinoma with tamoxifen: a double-blind placebo-controlled trial in 120 patients. Gastroenterology (1995) 2.47
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet (1995) 2.24
Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva. Am J Med Genet (2001) 2.24
Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol (2001) 2.05
[Diagnosis of renal carcinoma in acquired cystic renal disease. Usefulness of echography in detection during subclinical phase]. Med Clin (Barc) (1991) 2.04
Evaluation of eight methods for identification of pathogenic Neisseria species: Neisseria-Kwik, RIM-N, Gonobio-Test, Minitek, Gonochek II, GonoGen, Phadebact Monoclonal GC OMNI Test, and Syva MicroTrak Test. J Clin Microbiol (1988) 2.01
The state of hepatitis B and C in Europe: report from the hepatitis B and C summit conference*. J Viral Hepat (2011) 2.00
Treatment of small hepatocellular carcinoma in cirrhotic patients: a cohort study comparing surgical resection and percutaneous ethanol injection. Hepatology (1993) 1.97
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am J Hum Genet (2002) 1.86
UGT1A1 gene variations and irinotecan treatment in patients with metastatic colorectal cancer. Br J Cancer (2004) 1.73
Therapeutic efficacy of unilateral subthalamotomy in Parkinson's disease: results in 89 patients followed for up to 36 months. J Neurol Neurosurg Psychiatry (2009) 1.67
Risk factors and HIV seropositivity among injecting drug users in Bangkok. AIDS (1991) 1.60
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood (1995) 1.59
Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q. Nat Genet (1993) 1.55
Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Am J Hum Genet (1994) 1.46
Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study. Hum Genet (1992) 1.44
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol (2007) 1.44
Tumor size determines the efficacy of percutaneous ethanol injection for the treatment of small hepatocellular carcinoma. Hepatology (1992) 1.42
[Imaging diagnosis of hepatocellular carcinoma. Addendum to hepatocellular carcinoma: diagnosis, staging and treatment strategies]. Radiologia (2011) 1.39
Medical transfer programmes for Bosnia and Herzegovina. Lancet (1996) 1.39
[Clinical manifestations of myotonic dystrophy: epidemiologic survey]. Med Clin (Barc) (1993) 1.38
Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients. Hum Mol Genet (1998) 1.36
Can children be protected from the effect of war? BMJ (1996) 1.36
The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript. Hum Mutat (2001) 1.36
Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. J Med Genet (2003) 1.31
Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I. Am J Hum Genet (2000) 1.29
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
Impact of CYP2D6 polymorphisms in tamoxifen adjuvant breast cancer treatment. Breast Cancer Res Treat (2009) 1.25
AIDS risk reduction and reduced HIV seroconversion among injection drug users in Bangkok. Am J Public Health (1994) 1.21
Pharmacogenetic prediction of clinical outcome in advanced colorectal cancer patients receiving oxaliplatin/5-fluorouracil as first-line chemotherapy. Br J Cancer (2008) 1.19
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains. Hum Mutat (2001) 1.19
Retinitis pigmentosa in Spain. The Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa. Clin Genet (1995) 1.17
Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience : prenatal diagnosis in FGFR3 gene. J Assist Reprod Genet (2009) 1.17
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
DNA and histone H1 interact with different domains of HMG 1 and 2 proteins. EMBO J (1983) 1.16
A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. Genomics (1997) 1.16
A genotype-directed phase I-IV dose-finding study of irinotecan in combination with fluorouracil/leucovorin as first-line treatment in advanced colorectal cancer. Br J Cancer (2011) 1.15
Methylenetetrahydrofolate reductase gene polymorphisms: genomic predictors of clinical response to fluoropyrimidine-based chemotherapy? Cancer Chemother Pharmacol (2005) 1.13
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
Residual splenic function after laparoscopic splenectomy: a clinical concern. Arch Surg (1998) 1.12
Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci (2000) 1.12
The state of hepatitis B and C in the Mediterranean and Balkan countries: report from a summit conference. J Viral Hepat (2013) 1.10
Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development. Hum Mol Genet (1997) 1.10
Randomized controlled trial of interferon treatment for advanced hepatocellular carcinoma. Hepatology (2000) 1.10
Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation. Clin Genet (2005) 1.09
Meiotic drive at the myotonic dystrophy locus. J Med Genet (1994) 1.08
A novel genetic study of Chinese families with autosomal recessive retinitis pigmentosa. Ann Hum Genet (2006) 1.07
Auxotypes, plasmid contents, and serovars of gonococcal strains (PPNG and non-PPNG) from Jamaica. Genitourin Med (1987) 1.07
Differentiation of Neisseria gonorrhoeae isolates requiring proline, citrulline, and uracil by plasmid content, serotyping, and pulsed-field gel electrophoresis. J Clin Microbiol (1995) 1.07
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. Hum Mutat (2006) 1.07
Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period. J Med Genet (1995) 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
Transarterial embolization for hepatocellular carcinoma. Antibiotic prophylaxis and clinical meaning of postembolization fever. J Hepatol (1995) 1.05
MYO7A mutation screening in Usher syndrome type I patients from diverse origins. J Med Genet (2007) 1.05
RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease. J Med Genet (2000) 1.05
Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa. Hum Mutat (1995) 1.05
Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249. J Med Genet (2005) 1.05
Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa. J Med Genet (2003) 1.04
Testing alternative models for sexual isolation in natural populations of Littorina saxatilis: indirect support for by-product ecological speciation? J Evol Biol (2004) 1.03
Molecular comparison of delta beta-thalassemia and hereditary persistence of fetal hemoglobin DNAs: evidence of a regulatory area? Proc Natl Acad Sci U S A (1982) 1.02
Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families. Hum Genet (1995) 1.02
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
[The Pro347Leu mutation of the rhodopsin gene in a Spanish family with autosomal dominant pigmentary retinosis]. Med Clin (Barc) (1998) 0.99
Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers. Haemophilia (2008) 0.99
Condom use with primary partners among injecting drug users in Bangkok, Thailand and New York City, United States. AIDS (1993) 0.99
A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33. J Med Genet (1998) 0.99
Sex-related difference in intergenerational expansion of myotonic dystrophy gene. Lancet (1993) 0.98
Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia. Am J Med Genet A (2004) 0.98
Molecular epidemiology and novel combinations of auxotype, serovar, and plasmid content in tetracycline-resistant Neisseria gonorrhoeae isolated in Canada. Can J Microbiol (1990) 0.98
Serological markers and HLA-DQ2 haplotype among first-degree relatives of celiac patients. Catalonian Coeliac Disease Study Group. Dig Dis Sci (1999) 0.97
Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR. Prenat Diagn (2003) 0.97
Novel mutations in the TIGR gene in early and late onset open angle glaucoma. Hum Mutat (1998) 0.97
Is microbubble-enhanced ultrasonography sufficient for assessment of response to percutaneous treatment in patients with early hepatocellular carcinoma? Eur Radiol (2006) 0.97
Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1. Eur J Hum Genet (2000) 0.97
Determination of the spectrum of beta-thalassemia genes in Spain by use of dot-blot analysis of amplified beta-globin DNA. Am J Hum Genet (1988) 0.97
Parental origin of chromosomal nondisjunction in a 49,XXXXY male using recombinant-DNA techniques. Clin Genet (1989) 0.96
Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma. Prenat Diagn (2002) 0.96