Published in Am J Hum Genet on March 01, 1991
Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers. Am J Hum Genet (1991) 1.95
Fragile-X syndrome: unique genetics of the heritable unstable element. Am J Hum Genet (1992) 1.85
A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome. Am J Hum Genet (1992) 1.73
Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site. J Med Genet (1991) 1.71
X linked mental retardation. J Med Genet (1991) 1.41
Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation. J Med Genet (1993) 1.40
Isolation of a human DNA sequence which spans the fragile X. Am J Hum Genet (1991) 0.80
Carrier detection of Hunter syndrome (MPS II) by biochemical and DNA techniques in families at risk. J Med Genet (1993) 0.78
Difficult diagnosis of the fragile X syndrome made possible by direct detection of DNA mutations. J Med Genet (1992) 0.75
Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet (1985) 87.59
Identification of the cystic fibrosis gene: chromosome walking and jumping. Science (1989) 21.46
Report of the Committee on Methods of Linkage Analysis and Reporting. Cytogenet Cell Genet (1985) 5.61
Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms. Cytogenet Cell Genet (1989) 5.48
Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet (1985) 3.42
Efficient computations in multilocus linkage analysis. Am J Hum Genet (1988) 3.39
Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet (1989) 3.37
Report of the committee on linkage and gene order. Cytogenet Cell Genet (1989) 2.76
A new DNA marker tightly linked to the fragile X locus (FRAXA). Science (1989) 1.88
Preventive screening for the fragile X syndrome. N Engl J Med (1986) 1.76
Fragile X syndrome: a unique mutation in man. Annu Rev Genet (1986) 1.66
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
The common fragile site in band q27 of the human X chromosome is not coincident with the fragile X. Clin Genet (1990) 1.33
DNA polymorphism and human disease. Annu Rev Biochem (1986) 1.21
Multilocus analysis of the fragile X syndrome. Hum Genet (1988) 1.12
Isolation of a DNA probe of potential use for diagnosis of the fragile-X syndrome. Hum Genet (1989) 1.11
New polymorphic DNA marker close to the fragile site FRAXA. Genomics (1990) 1.05
Linkage and genetic counselling for the fragile X using DNA probes 52A, F9, DX13, and ST14. Am J Med Genet (1987) 1.05
The polymorphic marker DXS304 is within 5 centimorgans of the fragile X locus. Genomics (1989) 1.05
Improved DNA markers for efficient analysis of fragile X families. Am J Med Genet (1988) 1.00
RFLP for linkage analysis of fragile X syndrome. Lancet (1987) 0.97
New informative polymorphism at the DXS304 locus, a close distal marker for the fragile X locus. Hum Genet (1990) 0.91
Diagnostic molecular genetics of the fragile X. Clin Genet (1990) 0.89
New polymorphisms at the DXS98 locus and confirmation of its location proximal to FRAXA by in situ hybridization. Am J Hum Genet (1989) 0.86
A BclI RFLP for DXS296 (VK21) near the fragile X. Nucleic Acids Res (1990) 0.84
A common fragile site at Xq27: theoretical and practical implications. Am J Hum Genet (1988) 0.81
Recurrence risks for relatives in families with an isolated case of the fragile X syndrome. Am J Med Genet (1988) 0.79
Preclinical evidence of Alzheimer's disease in persons homozygous for the epsilon 4 allele for apolipoprotein E. N Engl J Med (1996) 10.60
APC mutations occur early during colorectal tumorigenesis. Nature (1992) 9.50
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 gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet (1999) 6.23
Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science (1993) 5.05
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet (1998) 4.91
Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res (1998) 4.39
Fragile X genotype characterized by an unstable region of DNA. Science (1991) 4.33
Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine. Science (1994) 4.27
Apolipoprotein E status as a predictor of the development of Alzheimer's disease in memory-impaired individuals. JAMA (1995) 3.84
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet (2001) 3.83
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet (1996) 3.67
Microsatellite instability and 8p allelic imbalance in stage B2 and C colorectal cancers. J Natl Cancer Inst (1999) 3.46
Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling. Nat Genet (2000) 3.33
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet (1998) 3.33
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science (1998) 3.22
Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat Genet (1994) 3.22
Incidence and origin of "null" alleles in the (AC)n microsatellite markers. Am J Hum Genet (1993) 3.18
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet (1995) 3.15
BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet (2004) 2.75
Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet (1996) 2.68
The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet (2001) 2.68
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
PAK3 mutation in nonsyndromic X-linked mental retardation. Nat Genet (1998) 2.52
Short-term benefit from oral vancomycin treatment of regressive-onset autism. J Child Neurol (2000) 2.50
Hippocampal volumes in cognitively normal persons at genetic risk for Alzheimer's disease. Ann Neurol (1998) 2.48
Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer. Am J Hum Genet (1997) 2.33
Colorectal cancer screening by detection of altered human DNA in stool: feasibility of a multitarget assay panel. Gastroenterology (2000) 2.25
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet (1997) 2.22
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. Am J Hum Genet (1999) 2.20
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet (2008) 2.09
Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. Blood (1999) 2.07
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol (1999) 2.02
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet (2001) 2.01
Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion. Nat Genet (1993) 2.00
A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1). Genomics (1991) 1.99
Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations. Nucleic Acids Res (1998) 1.99
Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsy. Neurology (2004) 1.98
Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med (1998) 1.96
Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers. Am J Hum Genet (1991) 1.95
Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation. Hum Mol Genet (1994) 1.90
Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2) Am J Med Genet (1988) 1.88
Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain. Nat Genet (1997) 1.88
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. Nat Genet (1995) 1.86
Hippocampal atrophy and apolipoprotein E genotype are independently associated with Alzheimer's disease. Ann Neurol (1998) 1.86
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. Cell (1994) 1.85
Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2. Neurology (2010) 1.84
A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases. Am J Hum Genet (1994) 1.84
Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence. N Engl J Med (1991) 1.83
Apolipoprotein E: risk factor for Alzheimer disease. Am J Hum Genet (1994) 1.83
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nat Genet (1999) 1.80
Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15. N Engl J Med (1992) 1.78
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. J Med Genet (2005) 1.78
Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. Hum Mol Genet (1996) 1.76
Explanation for exclusive maternal origin for congenital form of myotonic dystrophy. Lancet (1993) 1.72
Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. J Clin Endocrinol Metab (2000) 1.71
Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population. Am J Hum Genet (1993) 1.71
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. Ann Neurol (1993) 1.70
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. Hum Mol Genet (1994) 1.69
Evidence for a prostate cancer-susceptibility locus on chromosome 20. Am J Hum Genet (2000) 1.69
Mapping the short arm of human chromosome 16. Genomics (1989) 1.69
A polymorphic human myosin heavy chain locus is linked to an anonymous single copy locus (D17S1) at 17p13. Cytogenet Cell Genet (1986) 1.69
5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. Am J Med Genet (1996) 1.68
High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. Am J Med Genet (1994) 1.68
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Hum Mol Genet (1996) 1.67
Cystic fibrosis and the phenotypic expression of autosomal dominant polycystic kidney disease. Am J Kidney Dis (1998) 1.64
Evidence for autosomal dominant inheritance of prostate cancer. Am J Hum Genet (1998) 1.63
Identification of the gene FMR2, associated with FRAXE mental retardation. Nat Genet (1996) 1.61
Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology (2003) 1.61
Search for supersymmetry using final states with one lepton, jets, and missing transverse momentum with the ATLAS detector in √s=7 TeV pp collisions. Phys Rev Lett (2011) 1.60
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
Genetic mapping of new RFLPs at Xq27-q28. Genomics (1991) 1.60
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. J Med Genet (2005) 1.58
Clinical and molecular contributions to the understanding of X-linked mental retardation. Cytogenet Genome Res (2002) 1.57
Fluorescence photodetection of neoplastic urothelial lesions following intravesical instillation of 5-aminolevulinic acid. Urology (1994) 1.55
Fine mapping of gene probes and anonymous DNA fragments to the long arm of chromosome 16. Genomics (1988) 1.55
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 dup(3q) syndrome: report of eight cases and review of the literature. Am J Med Genet (1981) 1.52
Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap. Am J Hum Genet (1994) 1.51
Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. Nat Genet (1992) 1.51
Allan-Herndon syndrome. I. Clinical studies. Am J Hum Genet (1990) 1.50
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). J Med Genet (2009) 1.50
The location of the Philadelphia chromosomal breakpoint site and prognosis in chronic granulocytic leukemia. Leukemia (1990) 1.49
Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. Hum Mol Genet (1998) 1.48
X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism. Am J Hum Genet (1993) 1.48
Iron overload in cirrhosis-HFE genotypes and outcome after liver transplantation. Hepatology (2000) 1.45
Genotype prediction in the fragile X syndrome. J Med Genet (1991) 1.45
Survival of anaerobes in original specimens transported by overnight mail services. Clin Infect Dis (1995) 1.44
Somatic mutations in GLI3 can cause hypothalamic hamartoma and gelastic seizures. Neurology (2007) 1.44
Fibrinolytic responses to 1-desamino-8-D-arginine-vasopressin in patients with congenital nephrogenic diabetes insipidus. Nephron (1990) 1.42
Rapid, nonradioactive screening for mutations in exons 10, 11, and 16 of the RET protooncogene associated with inherited medullary thyroid carcinoma. Clin Chem (1997) 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
Dinucleotide repeat polymorphisms at the D16S164, D16S168 and D16S186 loci at 16q21-q22.1. Nucleic Acids Res (1991) 1.42
Observation of a centrality-dependent dijet asymmetry in lead-lead collisions at sqrt[S(NN)] =2.76 TeV with the ATLAS detector at the LHC. Phys Rev Lett (2010) 1.41
Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis. Lancet (1997) 1.40
Measurement of dijet azimuthal decorrelations in pp collisions at sqrt(s)=7 TeV. Phys Rev Lett (2011) 1.39
A fallacy of subspecialization in psychiatry. Consultation-liaison is a supraspecialty. Psychosomatics (1991) 1.38
Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome. Hum Mol Genet (1995) 1.37