Published in Mol Vis on December 30, 2011
Screening for large rearrangements of the RB1 gene in Iranian patients with retinoblastoma using multiplex ligation-dependent probe amplification. Mol Vis (2013) 0.79
Increased incidence and disparity of diagnosis of retinoblastoma patients in Guatemala. Cancer Lett (2014) 0.78
Genetic screening in Iranian patients with retinoblastoma. Eye (Lond) (2016) 0.75
Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A (1971) 31.05
Genetics of retinoblastoma. Hum Genet (1979) 3.67
Mortality from second tumors among long-term survivors of retinoblastoma. J Natl Cancer Inst (1993) 3.52
Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. Am J Hum Genet (2002) 2.29
A general theory of carcinogenesis. Proc Natl Acad Sci U S A (1973) 2.28
Second primary tumors in hereditary retinoblastoma: a register-based study, 1945-1997: is there an age effect on radiation-related risk? Ophthalmology (2001) 1.85
Mutation spectrum of the retinoblastoma gene in osteosarcomas. Cancer Res (1994) 1.66
Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF. Hum Mutat (2004) 1.52
Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma. Hum Mol Genet (1995) 1.44
Detection of mosaic RB1 mutations in families with retinoblastoma. Hum Mutat (2009) 1.41
Retinoblastoma: revisiting the model prototype of inherited cancer. Am J Med Genet C Semin Med Genet (2004) 1.40
RB1 gene mutations in retinoblastoma. Hum Mutat (1999) 1.38
The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. Am J Hum Genet (1996) 1.34
Genotype-phenotype correlations in hereditary familial retinoblastoma. Hum Mutat (2007) 1.25
Overview of RB gene mutations in patients with retinoblastoma. Implications for clinical genetic screening. Ophthalmology (1998) 1.14
Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene. Hum Mutat (2005) 1.13
Molecular basis of low-penetrance retinoblastoma. Arch Ophthalmol (2001) 1.13
MDM2 as a modifier gene in retinoblastoma. J Natl Cancer Inst (2010) 1.09
Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications. Hum Mutat (2001) 1.05
Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II. Am J Hum Genet (1995) 1.01
Ten novel RB1 gene mutations in patients with retinoblastoma. Mol Vis (2007) 0.99
Loss of heterozygosity and mutations are the major mechanisms of RB1 gene inactivation in Chinese with sporadic retinoblastoma. Hum Mutat (2002) 0.98
A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma. J Genet (2009) 0.96
Germline mutations in retinoma patients: relevance to low-penetrance and low-expressivity molecular basis. Mol Vis (2009) 0.96
Constitutional retinoblastoma gene deletion in Egyptian patients. World J Pediatr (2009) 0.86
Spectrum of RB1 gene mutations and loss of heterozygosity in Mexican patients with retinoblastoma: identification of six novel mutations. Cancer Biomark (2008) 0.86
Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene. BMC Med Genet (2011) 0.84
Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations. J Hum Genet (2006) 0.83
Role of genetic testing in retinoblastoma management at a tertiary referral centre. Clin Experiment Ophthalmol (2010) 0.81
Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients. Hum Mutat (2005) 0.80
Detection of germline mutations in argentine retinoblastoma patients: low and full penetrance retinoblastoma caused by the same germline truncating mutation. J Biochem Mol Biol (2004) 0.79
Outpatient clinic for genetic counseling and gene testing of retinoblastoma. Int J Clin Oncol (2004) 0.79
Screening for genomic rearrangements by multiplex PCR/liquid chromatography. Methods Mol Biol (2011) 0.77
Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. J Biol Chem (2002) 5.61
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain (2007) 3.35
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat (2004) 3.07
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet (2006) 2.44
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet (2003) 2.37
The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space. FEBS Lett (2002) 2.30
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. Am J Hum Genet (2004) 1.78
OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease. Mol Genet Metab (2002) 1.65
OPA1 cleavage depends on decreased mitochondrial ATP level and bivalent metals. Exp Cell Res (2007) 1.55
Glucagon-like peptide-1 is involved in sodium and water homeostasis in humans. Digestion (2006) 1.53
Characterization of pupil responses to blue and red light stimuli in autosomal dominant retinitis pigmentosa due to NR2E3 mutation. Invest Ophthalmol Vis Sci (2012) 1.50
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome. Hum Mutat (2010) 1.48
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. Hum Mutat (2007) 1.48
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. Hum Mutat (2014) 1.45
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. Hum Mutat (2007) 1.44
Blocking mitochondrial calcium release in Schwann cells prevents demyelinating neuropathies. J Clin Invest (2016) 1.41
OPA1-associated disorders: phenotypes and pathophysiology. Int J Biochem Cell Biol (2009) 1.40
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. Hum Mutat (2011) 1.36
Mitochondrial dynamics and disease, OPA1. Biochim Biophys Acta (2006) 1.35
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. Am J Hum Genet (2010) 1.35
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. Nat Genet (2012) 1.33
Y-chromosome analysis in Egypt suggests a genetic regional continuity in Northeastern Africa. Hum Biol (2002) 1.31
Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis. J Cell Physiol (2007) 1.30
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet (2005) 1.28
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. Am J Hum Genet (2009) 1.28
Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. Am J Hum Genet (2010) 1.23
OPA1 functions in mitochondria and dysfunctions in optic nerve. Int J Biochem Cell Biol (2009) 1.19
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. Ann Neurol (2005) 1.18
OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution. Genome Res (2010) 1.17
Non-USH2A mutations in USH2 patients. Hum Mutat (2012) 1.17
The ABCA4 gene in autosomal recessive cone-rod dystrophies. Am J Hum Genet (2002) 1.12
Dominant optic atrophy. Orphanet J Rare Dis (2012) 1.11
Mitochondrial fusion is frequent in skeletal muscle and supports excitation-contraction coupling. J Cell Biol (2014) 1.09
Expression of the Opa1 mitochondrial protein in retinal ganglion cells: its downregulation causes aggregation of the mitochondrial network. Invest Ophthalmol Vis Sci (2005) 1.06
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. Arch Ophthalmol (2012) 1.06
3-day treatment with azithromycin 1.5% eye drops versus 7-day treatment with tobramycin 0.3% for purulent bacterial conjunctivitis: multicentre, randomised and controlled trial in adults and children. Br J Ophthalmol (2006) 1.04
Four-year follow-up of diagnostic service in USH1 patients. Invest Ophthalmol Vis Sci (2011) 1.03
The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse. Brain (2012) 1.03
Exploring the pharmacological properties of insect nicotinic acetylcholine receptors. Trends Pharmacol Sci (2006) 0.99
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy. Hum Mutat (2003) 0.99
Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay. BMC Genet (2003) 0.95
AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men. Asian J Androl (2007) 0.95
GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation. Int J Pediatr Otorhinolaryngol (2007) 0.94
OPA1 (dys)functions. Semin Cell Dev Biol (2010) 0.94
Reversible optic neuropathy with OPA1 exon 5b mutation. Ann Neurol (2008) 0.93
A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family. Am J Med Genet A (2008) 0.92
Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens. Invest Ophthalmol Vis Sci (2006) 0.92
Novel mutations in MYO7A and USH2A in Usher syndrome. Ophthalmic Genet (2005) 0.92
A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss. Am J Hum Genet (2012) 0.91
RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation. Hum Mutat (2011) 0.90
Characterization of Ca2+ signalling in postnatal mouse retinal ganglion cells: involvement of OPA1 in Ca2+ clearance. Ophthalmic Genet (2010) 0.90
Association of spermatogenic failure with the b2/b3 partial AZFc deletion. PLoS One (2012) 0.89
Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss. Biochem Biophys Res Commun (2012) 0.88
Prevalence of the mitochondrial A 1555G mutation in Moroccan patients with non-syndromic hearing loss. Int J Pediatr Otorhinolaryngol (2010) 0.88
Y-chromosome AZFc structural architecture and relationship to male fertility. Fertil Steril (2008) 0.87
Should transcobalamin deficiency be treated aggressively? J Inherit Metab Dis (2010) 0.86
Carrier frequencies of mutations/polymorphisms in the connexin 26 gene (GJB2) in the Moroccan population. Genet Test (2008) 0.85
The analysis of three markers flanking GJB2 gene suggests a single origin of the most common 35delG mutation in the Moroccan population. Biochem Biophys Res Commun (2008) 0.85
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. Eur J Med Genet (2010) 0.85
Contribution of CDKAL1 rs7756992 and IGF2BP2 rs4402960 polymorphisms in type 2 diabetes, diabetic complications, obesity risk and hypertension in the Tunisian population. J Diabetes (2014) 0.85
Association of the MTHFR A1298C variant with unexplained severe male infertility. PLoS One (2012) 0.85
The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population. Eur J Pediatr (2010) 0.85
Novel mutations involving the INSL3 gene associated with cryptorchidism. J Urol (2007) 0.84
The ocular anomalies in a cystinosis animal model mimic disease pathogenesis. Pediatr Res (2007) 0.84
Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility. Fertil Steril (2009) 0.84
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2. Hum Mol Genet (2013) 0.84
Sensorineural hearing loss in OPA1-linked disorders. Brain (2013) 0.84
Why mitochondria must fuse to maintain their genome integrity. Antioxid Redox Signal (2013) 0.83
Assessment of construct validity of a virtual reality laparoscopy simulator. J Laparoendosc Adv Surg Tech A (2007) 0.83
Association of the C677T polymorphism in the human methylenetetrahydrofolate reductase (MTHFR) gene with the genetic predisposition for type 2 diabetes mellitus in a Moroccan population. Genet Test Mol Biomarkers (2011) 0.83
The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population. Mol Biol Rep (2012) 0.82
Association of APOA5 rs662799 and rs3135506 polymorphisms with arterial hypertension in Moroccan patients. Lipids Health Dis (2014) 0.82
Gene therapeutic prospects in early onset of severe retinal dystrophy: restoration of vision in RPE65 Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium. Bull Mem Acad R Med Belg (2006) 0.82
Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss. Gene (2013) 0.81