Published in Genes Chromosomes Cancer on March 01, 1995
Pediatric high-grade astrocytomas show chromosomal imbalances distinct from adult cases. Am J Pathol (2001) 1.41
Treatment of pediatric brain tumors. J Cell Physiol (2008) 1.09
Genomic deletions correlate with underexpression of novel candidate genes at six loci in pediatric pilocytic astrocytoma. Neoplasia (2008) 0.94
Pediatric low-grade gliomas and the need for new options for therapy: Why and how? Cancer Biol Ther (2009) 0.88
Pediatric low-grade gliomas: how modern biology reshapes the clinical field. Biochim Biophys Acta (2014) 0.86
Current concepts in the molecular genetics of pediatric brain tumors: implications for emerging therapies. Childs Nerv Syst (2006) 0.78
Spontaneous Malignant Transformation of a Pilocytic Astrocytoma of Cerebellum: Case Report. Child Neurol Open (2015) 0.75
Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet (1998) 19.35
Identification of a gene that causes primary open angle glaucoma. Science (1997) 8.14
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet (2000) 4.81
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet (1997) 4.43
A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC). Science (1994) 4.02
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet (1999) 3.32
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet (1998) 3.24
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet (1999) 3.24
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A) N Engl J Med (1998) 3.18
Integrated human genome-wide maps constructed using the CEPH reference panel. Nat Genet (1994) 3.06
Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet (2001) 3.06
Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. Am J Hum Genet (1995) 3.02
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nat Genet (2001) 2.77
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum Mol Genet (2001) 2.56
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA (1999) 2.56
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat Genet (1998) 2.53
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum Mol Genet (1995) 2.50
Mutations in MKKS cause Bardet-Biedl syndrome. Nat Genet (2000) 2.45
Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. Am J Hum Genet (1999) 2.42
Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch Ophthalmol (2001) 2.38
The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet (1999) 2.32
Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nat Genet (1993) 2.24
Pitfalls in homozygosity mapping. Am J Hum Genet (2000) 2.12
Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. Arch Ophthalmol (1993) 2.05
Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nat Genet (1993) 2.05
Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch Ophthalmol (1994) 2.05
Improved set of short-tandem-repeat polymorphisms for screening the human genome. Am J Hum Genet (1997) 2.03
Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome. Hum Mol Genet (1995) 1.99
An analysis of allelic variation in the ABCA4 gene. Invest Ophthalmol Vis Sci (2001) 1.90
Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Arch Ophthalmol (2000) 1.89
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. Invest Ophthalmol Vis Sci (2000) 1.84
Mutations of the PATCHED gene in several types of sporadic extracutaneous tumors. Cancer Res (1997) 1.83
Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration. Nat Genet (1998) 1.80
Examination of AVPR1a as an autism susceptibility gene. Mol Psychiatry (2004) 1.80
Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nat Genet (1992) 1.77
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat (2001) 1.77
Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21. Hum Genet (1994) 1.72
Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. Hum Mol Genet (1996) 1.69
Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration. Arch Ophthalmol (2001) 1.68
Treatment options and prognosis for multicentric juvenile pilocytic astrocytoma. J Neurosurg (1994) 1.68
Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. Hum Mol Genet (2001) 1.67
MR evaluation of spinal dermal sinus tracts in children. AJNR Am J Neuroradiol (1991) 1.61
Catechol-O-methyl transferase Val158Met gene polymorphism in schizophrenia: working memory, frontal lobe MRI morphology and frontal cerebral blood flow. Mol Psychiatry (2005) 1.61
Molecular genetics of age-related macular degeneration. Hum Mol Genet (2001) 1.55
Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). Hum Mol Genet (1996) 1.54
A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. Am J Hum Genet (2001) 1.50
Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43. Am J Hum Genet (1998) 1.50
Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. Nat Genet (1995) 1.50
Linkage of posterior polymorphous corneal dystrophy to 20q11. Hum Mol Genet (1995) 1.49
Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci. Am J Med Genet (1995) 1.43
Congenital nasal masses: CT and MR imaging features in 16 cases. AJNR Am J Neuroradiol (1991) 1.42
Construction and partial characterization of two recombinant cDNA clones for procollagen from chicken cartilage. Nucleic Acids Res (1982) 1.35
Glucocorticoid induction of the glaucoma gene MYOC in human and monkey trabecular meshwork cells and tissues. Invest Ophthalmol Vis Sci (2001) 1.33
Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1) Arch Ophthalmol (1997) 1.32
Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brain. Brain Res Mol Brain Res (1999) 1.31
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). Hum Mol Genet (2000) 1.30
Intracranial arachnoid cysts in children. A comparison of the effects of fenestration and shunting. J Neurosurg (1991) 1.28
A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. Hum Mol Genet (1996) 1.27
Automated construction of high-density comparative maps between rat, human, and mouse. Genome Res (2001) 1.24
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). Hum Mol Genet (1995) 1.24
A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping. Am J Hum Genet (1998) 1.24
Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma. Proc Natl Acad Sci U S A (1991) 1.23
Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13. Hum Mol Genet (1992) 1.22
Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects. Dev Dyn (1999) 1.22
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum Mutat (1998) 1.21
Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation. Hum Mol Genet (1998) 1.19
Pax6 3' deletion results in aniridia, autism and mental retardation. Hum Genet (2008) 1.18
The human "interferon-beta 2/hepatocyte stimulating factor/interleukin-6" gene: DNA polymorphism studies and localization to chromosome 7p21. Genomics (1988) 1.17
Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. Genomics (2001) 1.17
Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension. Invest Ophthalmol Vis Sci (2001) 1.16
Evidence supporting WNT2 as an autism susceptibility gene. Am J Med Genet (2001) 1.16
Chromosomal assignment of 2900 tri- and tetranucleotide repeat markers using NIGMS somatic cell hybrid panel 2. Genomics (1996) 1.16
Generation of a high-density rat EST map. Genome Res (2001) 1.15
Genetic analysis of cystic fibrosis: linkage of DNA and classical markers in multiplex families. Am J Hum Genet (1986) 1.15
The relationship between granular, lattice type 1, and Avellino corneal dystrophies. A histopathologic study. Arch Ophthalmol (1994) 1.14
Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa. Arch Ophthalmol (1991) 1.14
Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa. Arch Ophthalmol (1992) 1.11
Characterization and comparison of the human and mouse GLC1A glaucoma genes. Genome Res (1998) 1.11
Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling. Hum Mol Genet (1997) 1.11
Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21. Arch Ophthalmol (1996) 1.11
Optimal procedure for extracting RNA from human ocular tissues and expression profiling of the congenital glaucoma gene FOXC1 using quantitative RT-PCR. Mol Vis (2001) 1.10
Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene. Invest Ophthalmol Vis Sci (1996) 1.10
An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds. Am J Hum Genet (1996) 1.10
cDNA expressed sequence tags of Trypanosoma brucei rhodesiense provide new insights into the biology of the parasite. Mol Biochem Parasitol (1995) 1.05
Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization. Invest Ophthalmol Vis Sci (2000) 1.05
Delayed secondary glucocorticoid responsiveness of MYOC in human trabecular meshwork cells. Invest Ophthalmol Vis Sci (2001) 1.03
Physical mapping of chromosome 17p13.3 in the region of a putative tumor suppressor gene important in medulloblastoma. Genomics (1994) 1.03
A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. Ophthalmology (1995) 1.02
Low frequency of p53 mutations observed in a diverse collection of primary hepatocellular carcinomas. Proc Natl Acad Sci U S A (1992) 1.02
Procollagen II gene mutation in Stickler syndrome. Arch Ophthalmol (1992) 1.02
The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map. Genome Res (1999) 1.01
Pooled library tissue tags for EST-based gene discovery. Bioinformatics (2002) 1.01
A 12 megabase restriction map at the cystic fibrosis locus. Nucleic Acids Res (1989) 1.01
New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p. Am J Med Genet (1997) 1.00
Involvement of multiple chromosome 17p loci in medulloblastoma tumorigenesis. Am J Hum Genet (1992) 0.99
Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene. Ophthalmology (1991) 0.99