Published in Cytogenet Cell Genet on January 01, 1986
Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome. Am J Hum Genet (1988) 1.83
Organization of human and mouse skeletal myosin heavy chain gene clusters is highly conserved. Proc Natl Acad Sci U S A (1999) 1.47
Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21. Am J Hum Genet (1990) 1.44
Mapping of Alport syndrome to the long arm of the X chromosome. Am J Hum Genet (1988) 1.10
Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12. Am J Hum Genet (1990) 1.07
Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions. Am J Hum Genet (1993) 1.01
Organization of the human skeletal myosin heavy chain gene cluster. Proc Natl Acad Sci U S A (1992) 0.97
Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation. J Med Genet (1997) 0.78
PstI RFLP at the MYH2 locus on chromosome 17. Nucleic Acids Res (1990) 0.75
A cell cycle regulator potentially involved in genesis of many tumor types. Science (1994) 13.00
Ubiquitous, interspersed repeated sequences in mammalian genomes. Proc Natl Acad Sci U S A (1980) 9.48
Assessment of diabetes-related distress. Diabetes Care (1995) 6.83
Integrating response shift into health-related quality of life research: a theoretical model. Soc Sci Med (1999) 6.83
The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet (1996) 6.43
Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands. J Natl Cancer Inst (1994) 6.27
A candidate prostate cancer susceptibility gene at chromosome 17p. Nat Genet (2001) 5.06
Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science (1990) 4.15
Low molecular weight RNAs hydrogen-bonded to nuclear and cytoplasmic poly(A)-terminated RNA from cultured Chinese hamster ovary cells. Cell (1978) 3.82
Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. N Engl J Med (1988) 3.66
Non-Alu family interspersed repeats in human DNA and their transcriptional activity. Nucleic Acids Res (1984) 3.30
Genomic mismatch scanning in pedigrees. IMA J Math Appl Med Biol (1994) 3.16
Common inheritance of susceptibility to colonic adenomatous polyps and associated colorectal cancers. N Engl J Med (1988) 3.01
Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. Am J Hum Genet (1996) 2.97
A model for restriction fragment length distributions. Am J Hum Genet (1983) 2.71
Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques. Cytogenet Cell Genet (1984) 2.70
Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques. Cytogenet Cell Genet (1985) 2.70
Report of the committee on the genetic constitution of chromosome 20. Cytogenet Cell Genet (1990) 2.67
Segregation and linkage analysis of nine Utah breast cancer pedigrees. Genet Epidemiol (1988) 2.65
The Chinese hamster Alu-equivalent sequence: a conserved highly repetitious, interspersed deoxyribonucleic acid sequence in mammals has a structure suggestive of a transposable element. Mol Cell Biol (1981) 2.56
Detection of restriction fragment length polymorphisms at the centromeres of human chromosomes by using chromosome-specific alpha satellite DNA probes: implications for development of centromere-based genetic linkage maps. Proc Natl Acad Sci U S A (1986) 2.54
Adenovirus type 5 and 7 capsid chimera: fiber replacement alters receptor tropism without affecting primary immune neutralization epitopes. J Virol (1996) 2.46
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. J Med Genet (2004) 2.40
Type IIx myosin heavy chain transcripts are expressed in type IIb fibers of human skeletal muscle. Am J Physiol (1994) 2.21
Calculation of risk factors and likelihoods for familial diseases. Comput Biomed Res (1976) 2.16
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet (2008) 2.09
Organization and expression of non-Alu family interspersed repetitive DNA sequences in the mouse genome. J Mol Biol (1984) 1.96
The incidence and gene frequency of ataxia-telangiectasia in the United States. Am J Hum Genet (1986) 1.90
Strategies for detecting and characterizing restriction fragment length polymorphisms (RFLP's). Cytogenet Cell Genet (1982) 1.90
Chromosomal assignment of the mouse kappa light chain genes. Proc Natl Acad Sci U S A (1979) 1.87
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. Cell (1994) 1.85
A transposon-like element in human DNA. Nature (1985) 1.81
Familiality of cancer in Utah. Cancer Res (1994) 1.80
Genetic distances between the Utah Mormons and related populations. Am J Hum Genet (1984) 1.79
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. J Med Genet (2005) 1.78
Low incidence of BRCA2 mutations in breast carcinoma and other cancers. Nat Genet (1996) 1.74
Testing a policy for skull radiography (and admission) following mild head injury. Br J Radiol (1990) 1.72
Isolation and characterization of human myosin heavy chain genes. Proc Natl Acad Sci U S A (1983) 1.72
Report of the committee on human gene mapping by recombinant DNA techniques. Oslo Conference (1981): Sixth International Workshop on Human Gene Mapping. Cytogenet Cell Genet (1982) 1.71
A large kindred with 17q-linked breast and ovarian cancer: genetic, phenotypic, and genealogical analysis. J Natl Cancer Inst (1994) 1.69
5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. Am J Med Genet (1996) 1.68
Genomic DNA pooling for whole-genome association scans in complex disease: empirical demonstration of efficacy in rheumatoid arthritis. Genes Immun (2006) 1.64
Hereditary hemochromatosis. Analysis of laboratory expression of the disease by genotype in 18 pedigrees. Am J Clin Pathol (1982) 1.61
Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines. Am J Hum Genet (1990) 1.60
Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin. Ann Neurol (1995) 1.58
Dominant inheritance of adenomatous colonic polyps and colorectal cancer. N Engl J Med (1985) 1.58
Clinical and molecular contributions to the understanding of X-linked mental retardation. Cytogenet Genome Res (2002) 1.57
The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. Am J Hum Genet (1997) 1.53
The native structure of intercellular adhesion molecule-1 (ICAM-1) is a dimer. Correlation with binding to LFA-1. J Immunol (1995) 1.52
Allan-Herndon syndrome. I. Clinical studies. Am J Hum Genet (1990) 1.50
Circumventing the immune response to adenovirus-mediated gene therapy. Gene Ther (1996) 1.48
Organization of human and mouse skeletal myosin heavy chain gene clusters is highly conserved. Proc Natl Acad Sci U S A (1999) 1.47
A probabilistic model for detecting coding regions in DNA sequences. IMA J Math Appl Med Biol (1994) 1.46
Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family. Hum Mol Genet (1997) 1.44
Assignment of the receptor for ecotropic murine leukemia virus to mouse chromosome 5. J Exp Med (1978) 1.42
Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations. Hum Mol Genet (1996) 1.42
Molecular cloning and characterization of TRPC5 (HTRP5), the human homologue of a mouse brain receptor-activated capacitative Ca2+ entry channel. Genomics (1999) 1.42
Guidelines for human gene nomenclature. An international system for human gene nomenclature (ISGN, 1987). Cytogenet Cell Genet (1987) 1.40
Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome. Am J Hum Genet (1991) 1.38
A fallacy of subspecialization in psychiatry. Consultation-liaison is a supraspecialty. Psychosomatics (1991) 1.38
Hereditary haemochromatosis. Clin Haematol (1982) 1.38
X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27. J Med Genet (1999) 1.33
A genetic map of human chromosome 17p. Genomics (1990) 1.33
A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate. Clin Genet (2007) 1.32
Chronic course of anxiety disorders in children and adolescents. J Am Acad Child Adolesc Psychiatry (1992) 1.31
Ancestral inference. I. The problem and the method. Ann Hum Genet (1978) 1.30
The use of sarkosyl in generating soluble protein after bacterial expression. Proc Natl Acad Sci U S A (1991) 1.30
Efficacy of tremacamra, a soluble intercellular adhesion molecule 1, for experimental rhinovirus infection: a randomized clinical trial. JAMA (1999) 1.28
Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome. Am J Med Genet A (2004) 1.24
The impact of RFLPs on human gene mapping. Prog Clin Biol Res (1984) 1.24
Genetic and physical mapping of a novel region close to the fragile X site on the human X chromosome. Genomics (1989) 1.24
Controlling ourselves, controlling our world. Psychology's role in understanding positive and negative consequences of seeking and gaining control. Am Psychol (1996) 1.23
Oesophageal sensitivity to Mecholyl in symptomatic diffuse spasm. Gut (1967) 1.23
Chromosome 17q linkage studies of 18 Utah breast cancer kindreds. Am J Hum Genet (1993) 1.23
A look at breast-feeding trends in Canada (1963-1982). Can J Public Health (1985) 1.21
New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome. J Med Genet (2008) 1.20
Catalase and superoxide dismutase in Escherichia coli. J Biol Chem (1983) 1.19
Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. Clin Genet (2002) 1.18
Growth and muscle defects in mice lacking adult myosin heavy chain genes. J Cell Biol (1997) 1.18
The role of MRI in the diagnosis of occult hip fractures. Injury (1998) 1.17
ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. J Med Genet (2007) 1.16
XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28. Am J Med Genet (1999) 1.15
Renpenning syndrome comes into focus. Am J Med Genet A (2005) 1.15
Possible linkage of a breast cancer-susceptibility locus to the ABO locus: sensitivity of LOD scores to a single new recombinant observation. Genet Epidemiol (1984) 1.13
The prevalence, clinical features and association of HLA-B27 in sacroiliitis associated with established Crohn's disease. Aliment Pharmacol Ther (2008) 1.12
Antibody-mediated autoimmune myocarditis depends on genetically determined target organ sensitivity. J Exp Med (1995) 1.12
Examination of factors associated with instability of the FMR1 CGG repeat. Am J Hum Genet (1998) 1.11
Homozygosity for hemochromatosis: clinical manifestations. Ann Intern Med (1980) 1.11
Structural genes of the mouse major urinary protein are on chromosome 4. J Cell Biol (1982) 1.10
Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family. Am J Med Genet (1992) 1.10
Menstrual state and exercise as determinants of spinal trabecular bone density in female athletes. BMJ (1990) 1.08
Cardiac alpha-myosin heavy chains differ in their induction of myocarditis. Identification of pathogenic epitopes. J Clin Invest (1993) 1.07
The challenge of response shift for quality-of-life-based clinical oncology research. Ann Oncol (1999) 1.07
FG syndrome: report of three new families with linkage to Xq12-q22.1. Am J Med Genet (1998) 1.06
Hereditary hemochromatosis: contributions of genetic analyses. Prog Hematol (1981) 1.06
Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males. J Med Genet (2004) 1.06
Anti-inflammatory cytokine gene therapy decreases sensory and motor dysfunction in experimental Multiple Sclerosis: MOG-EAE behavioral and anatomical symptom treatment with cytokine gene therapy. Brain Behav Immun (2008) 1.05
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome. J Med Genet (2008) 1.05
Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred. Arterioscler Thromb Vasc Biol (2000) 1.04