Published in J Fr Ophtalmol on January 01, 2007
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet (2013) 9.46
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat Genet (1996) 3.51
Leber congenital amaurosis. Mol Genet Metab (1999) 2.52
APOE and Alzheimer disease: a major gene with semi-dominant inheritance. Mol Psychiatry (2011) 2.31
Clinical and genetic heterogeneity in retinitis pigmentosa. Hum Genet (1990) 2.26
Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet (2005) 2.24
The sensitive period for strabismic amblyopia in humans. Ophthalmology (1993) 2.22
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. Eur J Hum Genet (1998) 1.97
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. Genomics (1992) 1.85
Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene. J Neuropathol Exp Neurol (2004) 1.76
Renal coloboma syndrome. Ophthalmology (2001) 1.74
Alpha-2 macroglobulin gene and Alzheimer disease. Nat Genet (1999) 1.73
A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nat Genet (1993) 1.64
Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome: ocular manifestations in a recently recognized chronic inflammatory disease of childhood. Arch Ophthalmol (2000) 1.61
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. Eur J Hum Genet (2001) 1.55
Association at LRP gene locus with sporadic late-onset Alzheimer's disease. Lancet (1998) 1.53
Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. Mol Psychiatry (2009) 1.51
Two new human tumor cell lines derived from squamous cell carcinomas of the tongue: establishment, characterization and response to cytotoxic treatment. Eur J Cancer Clin Oncol (1988) 1.50
A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36. J Med Genet (2002) 1.48
Homozygous deletion in the coding sequence of the c-mer gene in RCS rats unravels general mechanisms of physiological cell adhesion and apoptosis. Neurobiol Dis (2000) 1.47
Spectrum of retGC1 mutations in Leber's congenital amaurosis. Eur J Hum Genet (2000) 1.44
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. J Med Genet (2004) 1.42
Arthroscopic treatment of rotator cuff tear in the over-60s: repair is preferable to isolated acromioplasty-tenotomy in the short term. Orthop Traumatol Surg Res (2011) 1.42
Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. Hum Mutat (2006) 1.37
Regional assignment of catalase (CAT) gene to band 11p13. Association with the aniridia-Wilms' tumor-Gonadoblastoma (WAGR) complex. Ann Genet (1980) 1.34
[Interstitial deletion of the long arm of chromosome 7 in a female child with leprechaunism]. Ann Genet (1976) 1.24
Long-term results of trabeculectomy for congenital glaucoma. J Pediatr Ophthalmol Strabismus (1998) 1.24
Expression of myosin VIIA during mouse embryogenesis. Anat Embryol (Berl) (1997) 1.23
Dual mobility cups hip arthroplasty as a treatment for displaced fracture of the femoral neck in the elderly. A prospective, systematic, multicenter study with specific focus on postoperative dislocation. Orthop Traumatol Surg Res (2012) 1.21
Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes. J Med Genet (1999) 1.19
Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis. Am J Hum Genet (1999) 1.18
Establishment and characterisation of a new tumorigenic cell line with a normal karyotype derived from a human breast adenocarcinoma. Br J Cancer (1990) 1.17
Effect of the APOE promoter polymorphisms on cerebral amyloid peptide deposition in Alzheimer's disease. Lancet (2001) 1.14
A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. Nat Genet (1993) 1.11
Growth and endocrine disorders in optic glioma. Eur J Pediatr (1990) 1.11
A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13. Am J Hum Genet (1995) 1.10
Identification of a new locus for isolated familial keratoconus at 2p24. J Med Genet (2005) 1.10
Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype. Hum Genet (1988) 1.09
A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15. Am J Hum Genet (2000) 1.08
Biochemical and behavioural characterization of EMPA, a novel high-affinity, selective antagonist for the OX(2) receptor. Br J Pharmacol (2009) 1.07
Severe manifestations in carrier females in X linked retinitis pigmentosa. J Med Genet (1997) 1.05
PAX-genes expression during human embryonic development, a preliminary report. C R Acad Sci III (1995) 1.04
Confirmation of RAX gene involvement in human anophthalmia. Clin Genet (2008) 1.01
Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. Am J Hum Genet (2000) 1.01
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia. Eur J Hum Genet (2001) 0.99
Del11p13/nephroblastoma without aniridia. Hum Genet (1984) 0.99
22q11 deletion in DGS/VCFS monozygotic twins with discordant phenotypes. Genet Couns (1999) 0.99
Intravitreous transplantation of encapsulated fibroblasts secreting the human fibroblast growth factor 2 delays photoreceptor cell degeneration in Royal College of Surgeons rats. Proc Natl Acad Sci U S A (1999) 0.99
Quantitative analysis of intravitreal injections in the rat. Curr Eye Res (2001) 0.98
[Surgical treatment of posterior instability of the shoulder joint using an iliac bone block or an acromial pediculated bone block: outcome in eighteen patients]. Rev Chir Orthop Reparatrice Appar Mot (2004) 0.96
Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD). Genomics (1996) 0.95
Genetic heterogeneity of Usher syndrome type 1 in French families. Genomics (1994) 0.95
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy. J Med Genet (2007) 0.95
Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy. Hum Mutat (2001) 0.93
Congenital toxoplasmosis acquired from an immune woman. Pediatr Infect Dis J (1997) 0.93
Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia. Hum Mutat (1996) 0.93
Neuropathological epidemiology of cerebral aging: a study of two genetic polymorphisms. Neurobiol Aging (2001) 0.93
A novel presenilin-2 splice variant in human Alzheimer's disease brain tissue. J Neurochem (1999) 0.93
Characterization of two members of the maize gene family, Incw3 and Incw4, encoding cell-wall invertases. Gene (2000) 0.93
Mitochondrial localization of a NADP-dependent [corrected] isocitrate dehydrogenase isoenzyme by using the green fluorescent protein as a marker. Proc Natl Acad Sci U S A (1998) 0.93
X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings. Clin Genet (2010) 0.92
Metabolic pigmentary retinopathies: diagnosis and therapeutic attempts. Eur J Pediatr (1992) 0.92
Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity. Ann Genet (1990) 0.92
Spatial and temporal expression of the cystathionine beta-synthase gene during early human development. Biochem Biophys Res Commun (1999) 0.92
Mapping of a congenital microcoria locus to 13q31-q32. Am J Hum Genet (1998) 0.91
Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia. Clin Genet (2012) 0.91
Stem subsidence after total hip revision: 183 cases at 5.9 years follow-up. Orthop Traumatol Surg Res (2011) 0.90
Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome. J Med Genet (2002) 0.90
ETS-1 and ETS-2 are upregulated in a transgenic mouse model of pigmented ocular neoplasm. Mol Vis (2008) 0.90
Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa. Hum Mol Genet (1994) 0.90
Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study. Am J Ophthalmol (1999) 0.89
Increased aneuploidy in spermatozoa from testicular tumour patients after chemotherapy with cisplatin, etoposide and bleomycin. Hum Reprod (2001) 0.89
A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy. Acta Neuropathol (1999) 0.89
Fabry's disease: heterozygous form of different expression in two monozygous twin sisters. Dermatology (1993) 0.89
[Hyaloretinal degeneration with osteoporosis and bone fragility. Pseudoglioma with bone fragility (author's transl)]. J Radiol (1981) 0.89
Association between coding variability in the LRP gene and the risk of late-onset Alzheimer's disease. Hum Genet (1999) 0.89
Chemotherapy induces NEDP1-mediated destabilization of MDM2. Oncogene (2009) 0.89
Familial high myopia: evidence of an autosomal dominant mode of inheritance and genetic heterogeneity. Ann Genet (1999) 0.88
A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma. Hum Mutat (1996) 0.88
Ocular cell transfection with the human basic fibroblast growth factor gene delays photoreceptor cell degeneration in RCS rats. Hum Gene Ther (2000) 0.88
Familial occurrence of a syndrome with branchial dysplasia, mental deficiency, club feet, and inguinal herniae. J Med Genet (1982) 0.87
Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis. Ophthalmic Genet (2010) 0.87
Establishment, characterization, chemosensitivity, and radiosensitivity of two different cell lines derived from a human breast cancer biopsy. Cancer Res (1985) 0.86
Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy. Mitochondrion (2007) 0.86
Association between the low density lipoprotein receptor-related protein (LRP) and Alzheimer's disease. Neurosci Lett (1997) 0.86
Evidence for deterministic chaos in aperiodic oscillations of proliferative activity in long-term cultured Fao hepatoma cells. J Cell Sci (2000) 0.86
[Characterization of a human cell line from an anaplastic carcinoma of the thyroid gland]. Bull Cancer (1991) 0.85
Nutritional optic neuropathies. J Neurol Sci (2007) 0.85
The ABCR gene: a major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderly. Mol Genet Metab (1999) 0.85
Natural autoantibodies in nude and normal outbred (Swiss) and inbred (BALB/c) mice. J Autoimmun (1989) 0.85
Congenital toxoplasma chorioretinitis transmitted by preconceptionally immune women. Br J Ophthalmol (1998) 0.85
Shoulder arthroplasty for acute proximal humerus fracture. Orthop Traumatol Surg Res (2010) 0.85
Differential regulation of Dlg1, Scrib, and Lgl1 expression in a transgenic mouse model of ocular cancer. Mol Vis (2008) 0.84