Published in Am J Hum Genet on January 01, 1988
Gene deletions in X-linked muscular dystrophy. Am J Hum Genet (1989) 1.29
Late adult-onset of X-linked myopathy with excessive autophagy. Muscle Nerve (2014) 0.88
Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study. Am J Hum Genet (1991) 0.82
Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol (1975) 503.08
Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet (1984) 28.51
Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A (1977) 13.87
A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet (1984) 7.73
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature (1985) 4.62
Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms. Proc Natl Acad Sci U S A (1984) 4.22
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy. Nature (1986) 3.62
The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency. Proc Natl Acad Sci U S A (1985) 2.88
Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene. Nature (1985) 2.61
Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus). Proc Natl Acad Sci U S A (1984) 2.23
Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphisms. Nucleic Acids Res (1984) 2.00
X-linked scapuloperoneal syndrome. J Neurol Neurosurg Psychiatry (1972) 1.87
Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation. Am J Hum Genet (1987) 1.77
Emery-Dreifuss muscular dystrophy. Ann Neurol (1979) 1.42
Report of the committee on the genetic constitution of the x and y chromosomes. Oslo Conference (1981): Sixth International Workshop on Human Gene Mapping. Cytogenet Cell Genet (1982) 1.37
An RFLP detecting single copy X-chromosome fragment, dic56, from Xp22-Xpter [HGM8 assignment no. DXS 143]. Nucleic Acids Res (1985) 1.21
Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene. J Med Genet (1986) 1.06
Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome. J Med Genet (1986) 1.03
Emery-Dreifuss muscular dystrophy. J Pediatr (1984) 1.02
Gene for OTC: characterisation and linkage to Duchenne muscular dystrophy. Nucleic Acids Res (1985) 0.99
Becker-type muscular dystrophy. Muscle Nerve (1979) 0.96
A linkage study of Emery-Dreifuss muscular dystrophy. Hum Genet (1986) 0.94
Linkage analysis of polymorphisms within the DNA fragment XJ cloned from the breakpoint of an X;21 translocation associated with X linked muscular dystrophy. J Med Genet (1986) 0.92
X-linked recessive myotubular myopathy: I. Clinical and pathologic findings in a family. Hum Pathol (1984) 0.86
The second human calcitonin/CGRP gene is located on chromosome 11. Hum Genet (1985) 0.85
Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet (1992) 15.62
A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature (1998) 10.35
Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med (1998) 8.47
Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer (1999) 6.73
Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell (1993) 6.61
Classification of European mtDNAs from an analysis of three European populations. Genetics (1996) 6.28
An interspersed repeated sequence specific for human subtelomeric regions. EMBO J (1990) 5.30
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell (1994) 5.21
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet (1989) 5.09
Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med (1996) 4.87
The sex-determining region of the human Y chromosome encodes a finger protein. Cell (1987) 4.43
Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nat Genet (1997) 4.27
Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet (1999) 4.16
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nat Genet (1995) 4.01
Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol (2000) 3.98
mtDNA analysis reveals a major late Paleolithic population expansion from southwestern to northeastern Europe. Am J Hum Genet (1998) 3.94
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet (1996) 3.90
Proteinase K from Tritirachium album Limber. Eur J Biochem (1974) 3.41
Conversion of diploidy to haploidy. Nature (2000) 3.28
A signal, from human mtDNA, of postglacial recolonization in Europe. Am J Hum Genet (2001) 3.28
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet (1991) 3.07
A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet (1981) 3.04
A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet (1986) 3.03
Genes and languages in Europe: an analysis of mitochondrial lineages. Genome Res (1995) 2.93
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell (1995) 2.89
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell (2001) 2.86
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) Science (1996) 2.73
Loss-of-function mutations in PPAR gamma associated with human colon cancer. Mol Cell (1999) 2.71
Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet (1996) 2.70
Human mitochondrial DNA types in Finland. Hum Genet (1988) 2.53
Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum Mol Genet (1993) 2.46
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet (1996) 2.40
Pericentric inversions of human chromosomes 9 and 10. Am J Hum Genet (1974) 2.40
hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. Cancer Res (1994) 2.39
Gene expression in papillary thyroid carcinoma reveals highly consistent profiles. Proc Natl Acad Sci U S A (2001) 2.38
Rearrangement of ALL1 (MLL) in acute myeloid leukemia with normal cytogenetics. Cancer Res (1998) 2.33
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A (1999) 2.27
A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. Nat Med (1998) 2.20
Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees. Arch Ophthalmol (1987) 2.18
Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes. Nature (1985) 2.14
A patient with 2 different repeat expansion mutations. Arch Neurol (2000) 2.14
Negative impact of bone metastasis on outcome in clear-cell renal cell carcinoma treated with sunitinib. Ann Oncol (2010) 2.11
Small solid renal masses: characterization by diffusion-weighted MRI at 3 T. Clin Radiol (2013) 2.08
Meiotic drive at the myotonic dystrophy locus? Nat Genet (1994) 2.08
Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer. Nat Genet (1994) 2.08
Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers. Am J Pathol (2000) 2.03
Mutations predisposing to hereditary nonpolyposis colorectal cancer. Adv Cancer Res (1997) 1.98
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology (2001) 1.97
Interstitial chemotherapy with carmustine-loaded polymers for high-grade gliomas: a randomized double-blind study. Neurosurgery (1997) 1.97
Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. Nat Genet (1999) 1.96
Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3). Proc Natl Acad Sci U S A (2001) 1.94
Age-related hypermethylation of the 5' region of MLH1 in normal colonic mucosa is associated with microsatellite-unstable colorectal cancer development. Cancer Res (2001) 1.93
Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7. Am J Hum Genet (1991) 1.89
MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis. Genes Chromosomes Cancer (1997) 1.83
The etiology of maleness in XX men. Hum Genet (1981) 1.82
Genetic control of serum IgE levels and asthma: linkage and linkage disequilibrium studies in an isolated population. Hum Mol Genet (1997) 1.82
Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies. Cell (1990) 1.80
Human type I procollagen genes are located on different chromosomes. Proc Natl Acad Sci U S A (1982) 1.78
Semiautomated assessment of loss of heterozygosity and replication error in tumors. Cancer Res (1996) 1.77
The distribution of linkage disequilibrium over anonymous genome regions. Hum Mol Genet (1995) 1.76
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am J Hum Genet (2001) 1.76
[German S3-guideline "Diagnosis and treatment of esophagogastric cancer"]. Z Gastroenterol (2011) 1.74
The lumbar multifidus muscle five years after surgery for a lumbar intervertebral disc herniation. Spine (Phila Pa 1976) (1993) 1.73
Gender verification in the Olympics. JAMA (2000) 1.72
Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology (1996) 1.71
Linkage, physical mapping, and DNA sequence analysis of pseudoautosomal loci on the human X and Y chromosomes. Genomics (1987) 1.70
Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism. Am J Hum Genet (1989) 1.70
Brain lactic acidosis and ischemic cell damage: 2. Histopathology. J Cereb Blood Flow Metab (1981) 1.66
Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene. Nat Genet (1999) 1.65
DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. Hum Mol Genet (1996) 1.64
Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism. Nat Genet (2000) 1.63
Satellite cell proliferation and the expression of myogenin and desmin in regenerating skeletal muscle: evidence for two different populations of satellite cells. Lab Invest (1995) 1.62
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nat Genet (1999) 1.61
Chromosome damage after intra-articular injections of radioactive yttrium. Effect of immobilization on the biological dose. Ann Rheum Dis (1972) 1.60
Aberrant expression of an amplified c-myb oncogene in two cell lines from a colon carcinoma. Proc Natl Acad Sci U S A (1984) 1.59
The intrinsic factor-vitamin B12 receptor, cubilin, is a high-affinity apolipoprotein A-I receptor facilitating endocytosis of high-density lipoprotein. Nat Med (1999) 1.59
Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer. Am J Hum Genet (1996) 1.58
Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry (1995) 1.57
Hypoglycemic brain injury. I. Metabolic and light microscopic findings in rat cerebral cortex during profound insulin-induced hypoglycemia and in the recovery period following glucose administration. Acta Neuropathol (1980) 1.56
Tumor formation and inactivation of RIZ1, an Rb-binding member of a nuclear protein-methyltransferase superfamily. Genes Dev (2001) 1.54
Predictive genetic testing for hereditary non-polyposis colorectal cancer: uptake and long-term satisfaction. Int J Cancer (2000) 1.49
Expression of the human mismatch repair gene hMSH2 in normal and neoplastic tissues. Cancer Res (1996) 1.49
Polymerase delta variants in RER colorectal tumours. Nat Genet (1995) 1.47
Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea. Am J Physiol (1999) 1.47
Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy. Am J Hum Genet (1990) 1.46
Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium. Am J Hum Genet (1995) 1.46
The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mtDNA. Am J Hum Genet (1996) 1.46
High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene. Am J Hum Genet (1994) 1.45
Intracranial aneurysms in three patients with disseminated Lyme borreliosis: cause or chance association? J Neurol Neurosurg Psychiatry (1998) 1.44
[The role of diffusion 3-Tesla MRI in detecting prostate cancer before needle biopsy: multiparametric study of 111 patients]. J Radiol (2010) 1.43
Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. Hum Mol Genet (1995) 1.42
Genetic homogeneity of cartilage-hair hypoplasia. Hum Genet (1995) 1.39
Microsatellite instability in adenomas as a marker for hereditary nonpolyposis colorectal cancer. Am J Pathol (1999) 1.38