Published in Hum Mutat on January 01, 1998
Glaucoma genetics. Int Ophthalmol Clin (2008) 1.17
Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene. Am J Hum Genet (1999) 1.13
Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma. Am J Ophthalmol (2007) 0.85
A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma. J Med Genet (1998) 0.85
Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma. Mol Vis (2008) 0.83
Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of primary open-angle glaucoma. Mol Vis (2011) 0.80
Haplotype analysis of association of the MYOC gene with primary angle-closure glaucoma in a Han Chinese population. Genet Test Mol Biomarkers (2015) 0.78
Single nucleotide polymorphism of MYOC affected the severity of primary open angle glaucoma. Int J Ophthalmol (2013) 0.78
Genetic screening in a large family with juvenile onset primary open angle glaucoma. Br J Ophthalmol (2000) 0.78
Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis. Mol Vis (2009) 0.78
A novel MYOC heterozygous mutation identified in a Chinese Uygur pedigree with primary open-angle glaucoma. Mol Vis (2012) 0.77
Increased risk of tumor seeding after percutaneous radiofrequency ablation for single hepatocellular carcinoma. Hepatology (2001) 6.88
Retinopathy induced in mice by targeted disruption of the rhodopsin gene. Nat Genet (1997) 4.50
Molecular cloning of extensive sequences of the in vitro synthesized chicken ovalbumin structural gene. Nucleic Acids Res (1977) 3.32
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology (2012) 3.12
A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Nature (1991) 2.90
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
Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3. Genomics (1989) 2.52
Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. Proc Natl Acad Sci U S A (1990) 2.50
Treatment of hepatocellular carcinoma with tamoxifen: a double-blind placebo-controlled trial in 120 patients. Gastroenterology (1995) 2.47
New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis. Nat Genet (2001) 2.44
Isolation of a polymorphic DNA segment unique to human chromosome 7 by molecular cloning of hybrid cell DNA. Mol Gen Genet (1983) 2.43
Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva. Am J Med Genet (2001) 2.24
[Diagnosis of renal carcinoma in acquired cystic renal disease. Usefulness of echography in detection during subclinical phase]. Med Clin (Barc) (1991) 2.04
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
Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q. Nat Genet (1993) 1.55
Recombinant plasmids containing Xenopus laevis globin structural genes derived from complementary DNA. Nucleic Acids Res (1978) 1.52
On the molecular genetics of retinitis pigmentosa. Science (1992) 1.45
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
Endonuclease R. Hind fragments of T7 DNA. Virology (1974) 1.33
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
The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533. Am J Hum Genet (1992) 1.22
Strategems in vitro for gene therapies directed to dominant mutations. Hum Mol Genet (1997) 1.20
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains. Hum Mutat (2001) 1.19
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
Autosomal dominant retinitis pigmentosa: a new multi-allelic marker (D3S621) genetically linked to the disease locus (RP4). Hum Genet (1991) 1.16
A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. Genomics (1997) 1.16
Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa. Hum Mol Genet (1994) 1.15
Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene. Am J Hum Genet (1999) 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
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
Autosomal dominant retinitis pigmentosa: localization of a disease gene (RP6) to the short arm of chromosome 6. Genomics (1991) 1.08
A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness. Hum Mutat (1999) 1.08
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. Hum Mutat (2006) 1.07
Tetranucleotide repeat polymorphism at the ACPP locus. Nucleic Acids Res (1991) 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
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
The electroretinogram of the rhodopsin knockout mouse. Vis Neurosci (1999) 1.04
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
Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families. Hum Genet (1995) 1.02
Restriction enzyme cleavage mapping of T7 virus early region. Mol Gen Genet (1978) 1.02
The pathophysiology of cigarette smoking and age-related macular degeneration. Adv Exp Med Biol (2010) 1.00
Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy. J Med Genet (1995) 1.00
[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
Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia. Am J Med Genet A (2004) 0.98
MRI evaluation of lumbar spine flexion and extension in asymptomatic individuals. Man Ther (2000) 0.98
Retinitis pigmentosa: genetic mapping in X-linked and autosomal forms of the disease. Clin Genet (1990) 0.98
Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR. Prenat Diagn (2003) 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
Parental origin of chromosomal nondisjunction in a 49,XXXXY male using recombinant-DNA techniques. Clin Genet (1989) 0.96
Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree. Genomics (1992) 0.96
Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma. Prenat Diagn (2002) 0.96
Mapping the RP10 locus for autosomal dominant retinitis pigmentosa on 7q: refined genetic positioning and localization within a well-defined YAC contig. Genome Res (1996) 0.96
Aberrant retinal tight junction and adherens junction protein expression in an animal model of autosomal dominant Retinitis pigmentosa: the Rho(-/-) mouse. Exp Eye Res (2006) 0.95
Autosomal dominant retinitis pigmentosa: a mutation in codon 178 of the rhodopsin gene in two families of Celtic origin. Genomics (1991) 0.95
Adenovirus 12 E1A gene detection by polymerase chain reaction in both the normal and coeliac duodenum. Gut (1994) 0.95
Structural and functional rescue of murine rod photoreceptors by human rhodopsin transgene. Hum Mol Genet (1999) 0.95
Donor-cell leukemia after bone marrow transplantation for severe aplastic anemia. N Engl J Med (1991) 0.95
Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family. Hum Mol Genet (1992) 0.94
Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2). Ophthalmic Genet (2000) 0.94
Linkage analysis of X linked retinitis pigmentosa in the Irish population. J Med Genet (1988) 0.94
Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population. Genomics (1994) 0.93
Polymorphisms and rare sequence variants at the ROM1 locus. Hum Mol Genet (1993) 0.93
Deletions in exon 5 of the human rhodopsin gene causing a shift in the reading frame and autosomal dominant retinitis pigmentosa. Hum Genet (1992) 0.93
Poly (T/A) polymorphism at the human retinal degeneration slow (RDS) locus. Nucleic Acids Res (1991) 0.92
Evaluation of mixed chimerism by in vitro amplification of dinucleotide repeat sequences using the polymerase chain reaction. Blood (1991) 0.92
Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa. Hum Mutat (2001) 0.92
Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants. Br J Ophthalmol (2008) 0.92
Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene. Am J Hum Genet (1999) 0.92
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. Clin Genet (2008) 0.91
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa. Eur J Hum Genet (1999) 0.91
Phase II study of transarterial embolization in European patients with hepatocellular carcinoma: need for controlled trials. Hepatology (1994) 0.90
Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease. Mol Vis (2007) 0.90