C G Mathew

Author PubWeight™ 125.73‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations. Lancet 2001 7.27
2 Mapping of a susceptibility locus for Crohn's disease on chromosome 16. Nature 1996 5.44
3 A genomewide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort. Am J Hum Genet 1999 2.88
4 Detection of a high frequency RsaI polymorphism in the human pro alpha 2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta. EMBO J 1985 2.52
5 Deletion of genes on chromosome 1 in endocrine neoplasia. Nature 1987 2.27
6 Cytogenetic versus DNA diagnosis in routine referrals for fragile X syndrome. Lancet 1993 2.20
7 A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10. Nature 1987 2.15
8 Prenatal onset spinal muscular atrophy. Eur J Paediatr Neurol 1999 2.15
9 Estimating risks of common complex diseases across genetic and environmental factors: the example of Crohn disease. J Med Genet 2007 1.97
10 Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance. Eur J Hum Genet 1997 1.89
11 Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism. Nat Genet 1999 1.81
12 The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. Nat Genet 2000 1.64
13 Paternal origin of new mutations in von Recklinghausen neurofibromatosis. Nature 1990 1.64
14 High frequency of large intragenic deletions in the Fanconi anemia group A gene. Am J Hum Genet 1999 1.60
15 Linkage of inflammatory bowel disease to human chromosome 6p. Am J Hum Genet 1999 1.57
16 Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. J Med Genet 1996 1.55
17 Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene. J Med Genet 1985 1.53
18 A nonsense mutation and exon skipping in the Fanconi anaemia group C gene. Hum Mol Genet 1993 1.51
19 Isolation of a cDNA representing the Fanconi anemia complementation group E gene. Am J Hum Genet 2000 1.51
20 Nijmegen breakage syndrome diagnosed as Fanconi anaemia. Pediatr Blood Cancer 2005 1.50
21 Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease. J Med Genet 2007 1.44
22 Studies on the association of the high mobility group non-histone chromatin proteins with isolated nucleosomes. Nucleic Acids Res 1979 1.42
23 Rapid molecular method for prenatal detection of Down's syndrome. Lancet 1994 1.41
24 HLA and inflammatory bowel disease. Lancet 1996 1.39
25 Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway. Hum Mol Genet 2001 1.34
26 Mutation analysis of the Fanconi anemia gene FACC. Am J Hum Genet 1994 1.32
27 Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene. Genomics 1990 1.31
28 Synergy between TLR9 and NOD2 innate immune responses is lost in genetic Crohn's disease. Gut 2005 1.30
29 Loss of NF1 alleles in phaeochromocytomas from patients with type I neurofibromatosis. Genes Chromosomes Cancer 1992 1.29
30 Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group. Blood 2000 1.29
31 A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods. J Med Genet 1991 1.23
32 Loss of heterozygosity mapping at chromosome arm 16q in 712 breast tumors reveals factors that influence delineation of candidate regions. Cancer Res 2001 1.23
33 Fine mapping of the chromosome 3p susceptibility locus in inflammatory bowel disease. Gut 2001 1.23
34 SNP subset selection for genetic association studies. Ann Hum Genet 2003 1.22
35 FANCG promotes formation of a newly identified protein complex containing BRCA2, FANCD2 and XRCC3. Oncogene 2008 1.21
36 Evidence of linkage of the inflammatory bowel disease susceptibility locus on chromosome 16 (IBD1) to ulcerative colitis. J Med Genet 1998 1.17
37 Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I. J Med Genet 1986 1.14
38 Linked markers flanking the gene for multiple endocrine neoplasia type 2A. Genomics 1989 1.13
39 Styl RFLP recognised by a human IRBP cDNA localised to chromosome 10. Nucleic Acids Res 1988 1.12
40 Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy. Eur J Hum Genet 1999 1.12
41 Genetic events in tumour initiation and progression in multiple endocrine neoplasia type 2. Genes Chromosomes Cancer 1993 1.11
42 A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation. Exp Hematol 1999 1.09
43 Prenatal prediction of spinal muscular atrophy. J Med Genet 1992 1.09
44 Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa. Proc Natl Acad Sci U S A 2001 1.07
45 Analysis of the high mobility group proteins associated with salt-soluble nucleosomes. Nucleic Acids Res 1979 1.07
46 Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3. Br J Cancer 1999 1.06
47 The genomic organization of the Fanconi anemia group A (FAA) gene. Genomics 1997 1.05
48 The interferon-gamma gene as a positional and functional candidate gene for inflammatory bowel disease. Int J Colorectal Dis 1998 1.03
49 The Fanconi anemia group E gene, FANCE, maps to chromosome 6p. Am J Hum Genet 1999 1.02
50 Sequence variants of the estrogen receptor (ER) gene found in breast cancer patients with ER negative and progesterone receptor positive tumors. Cancer Lett 1996 1.02
51 Sequence variation, linkage disequilibrium and association with Crohn's disease on chromosome 5q31. Genes Immun 2006 1.00
52 Analysis of the contribution of HLA genes to genetic predisposition in inflammatory bowel disease. Am J Hum Genet 1996 0.99
53 Complementation analysis in Fanconi anemia: assignment of the reference FA-H patient to group A. Am J Hum Genet 2000 0.98
54 Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. J Med Genet 1993 0.97
55 A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci. J Med Genet 1995 0.95
56 A comparison of the high mobility group non-histone chromatin protein HMG 2 in chicken thymus and erythrocytes. Biochem Biophys Res Commun 1979 0.95
57 Characterization and screening for mutations of the growth arrest-specific 11 (GAS11) and C16orf3 genes at 16q24.3 in breast cancer. Genomics 1998 0.95
58 Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR. Hum Mol Genet 1993 0.94
59 Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia. Leukemia 2004 0.94
60 Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9. Eur J Hum Genet 2000 0.93
61 A general autoimmunity gene (PTPN22) is not associated with inflammatory bowel disease in a British population. Tissue Antigens 2005 0.92
62 Risk factors for detecting germline BRCA1 and BRCA2 founder mutations in Ashkenazi Jewish women with breast or ovarian cancer. J Med Genet 1999 0.92
63 Population screening for cystic fibrosis. Lancet 1992 0.91
64 Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis. J Invest Dermatol 1999 0.91
65 The protein composition of rat satellite chromatin. FEBS Lett 1981 0.91
66 Telomere shortening in Fanconi anaemia demonstrated by a direct FISH approach. Cytogenet Cell Genet 2001 0.91
67 The PISSLRE gene: structure, exon skipping, and exclusion as tumor suppressor in breast cancer. Genomics 1999 0.90
68 Breast cancer and BRCA1 mutations. N Engl J Med 1996 0.89
69 The CEPH consortium primary linkage map of human chromosome 10. Genomics 1990 0.88
70 Investigation of Fanconi anemia protein interactions by yeast two-hybrid analysis. Biochem Biophys Res Commun 2000 0.88
71 Construction of a high-resolution physical and transcription map of chromosome 16q24.3: a region of frequent loss of heterozygosity in sporadic breast cancer. Genomics 1998 0.88
72 FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia. Lancet 1993 0.86
73 Quantitative PCR analysis reveals a high incidence of large intragenic deletions in the FANCA gene in Spanish Fanconi anemia patients. Cytogenet Genome Res 2004 0.86
74 The molecular basis of alpha thalassaemia in a South African population. Br J Haematol 1983 0.86
75 No association of the NFKB1 promoter polymorphism with ulcerative colitis in a British case control cohort. Gut 2005 0.84
76 Low prevalence of germline BRCA1 mutations in early onset breast cancer without a family history. J Med Genet 2000 0.84
77 Analysis of single-nucleotide polymorphisms in the interleukin-4 receptor gene for association with inflammatory bowel disease. Immunogenetics 2000 0.83
78 Novel mutations and polymorphisms in the Fanconi anemia group C gene. Hum Mutat 1996 0.83
79 Identification of a C/G polymorphism in the promoter region of the BRCA1 gene and its use as a marker for rapid detection of promoter deletions. Br J Cancer 1999 0.83
80 Incidence of Hb Barts and alpha-thalassaemia genotypes in a South African population. Acta Haematol 1985 0.81
81 Development of rheumatoid arthritis is not associated with two polymorphisms in the Crohn's disease gene CARD15. Rheumatology (Oxford) 2003 0.81
82 Loss of heterozygosity of the oestrogen receptor gene in breast cancer. Br J Cancer 1995 0.81
83 The high mobility group proteins and transcribed nucleosomes. Cell Biol Int Rep 1981 0.81
84 The gene coding for tropoelastin is represented as a single copy sequence in the haploid sheep genome. Coll Relat Res 1987 0.81
85 Clinical, cytogenetic, and molecular analysis of three families with FRAXE. J Med Genet 1997 0.81
86 Development of multiple endocrine neoplasia type 2A does not involve substantial deletions of chromosome 10. Genomics 1989 0.80
87 Exclusion of linkage of loci on chromosome 19 with multiple endocrine neoplasia, type 2. Cytogenet Cell Genet 1987 0.79
88 Exon 6 skipping in the Fanconi anemia C gene associated with a nonsense/missense mutation (775C-->T) in exon 5: the first example of a nonsense mutation in one exon causing skipping of another downstream. Hum Mutat 1998 0.79
89 A Crohn's disease-associated insertion polymorphism (3020insC) in the NOD2 gene is not associated with psoriasis vulgaris, palmo-plantar pustular psoriasis or guttate psoriasis. Exp Dermatol 2003 0.79
90 Genetic variation in the IGSF6 gene and lack of association with inflammatory bowel disease. Eur J Immunogenet 2003 0.79
91 A MseI polymorphism in exon 48 of the dystrophin gene. Nucleic Acids Res 1991 0.79
92 Dystrophin point mutation screening using a multiplexed protein truncation test. Genet Test 1997 0.79
93 BclI RFLP for the human vimentin gene. Nucleic Acids Res 1988 0.79
94 Two new polymorphic markers in the human pro alpha 2(1) collagen gene. Hum Genet 1985 0.78
95 Positive diepoxybutane test in only one of two brothers found to be compound heterozygotes for Fanconi's anaemia complementation group C mutations. Br J Haematol 1996 0.78
96 Haemoglobin E variants: a clinical, haematological and biosynthetic study of 4 South African families. Acta Haematol 1984 0.77
97 Direct diagnosis of carriers of point mutations in Duchenne muscular dystrophy. Lancet 1993 0.77
98 Quantitative analysis of non-histone chromosomal proteins HMG 14 and HMG 17 by polyacrylamide gel electrophoresis. J Chromatogr 1980 0.77
99 A new autosomal recessive anomaly mimicking Fanconi's anaemia phenotype. Arch Dis Child 1993 0.76
100 Characterization of a new alpha zero thalassaemia defect in the South African population. Br J Haematol 1987 0.76
101 Genetic association between EPHX1 and Crohn's disease: population stratification, genotyping error, or random chance? Gut 2004 0.75
102 A variant of Wiskott-Aldrich syndrome with nephropathy is linked to DXS255. J Med Genet 1995 0.75
103 EcoRI RFLP in the Fanconi anaemia complementation group C gene (FACC). Hum Mol Genet 1993 0.75
104 Fanconi's anaemia presenting as acute myeloid leukaemia in adulthood. Br J Haematol 1996 0.75
105 [Diagnosis of multiple endocrine neoplasms type IIa using DNA analysis]. Verh Dtsch Ges Pathol 1990 0.75
106 A novel NcoI polymorphism creates a fifth haplotype in the 3' untranslated region of CKM. Hum Genet 1992 0.75
107 Application of linked DNA markers to screening families with multiple endocrine neoplasia type 2A. Eur J Surg Oncol 1990 0.75
108 Minisatellite DNA profiles: rapid sample identification in linkage analysis. Hum Hered 1990 0.75
109 [Molecular analysis of the estrogen receptor (ER) gene in association with ER negativity in breast cancer]. Gan To Kagaku Ryoho 1996 0.75
110 Restriction endonuclease mapping of globin genes in beta-thalassaemia. S Afr Med J 1983 0.75
111 Early diagnosis of multiple endocrine neoplasia type IIa. Klin Wochenschr 1989 0.75
112 Genetic variation at the chromosome 16 chemokine gene cluster: development of a strategy for association studies in complex disease. Ann Hum Genet 2003 0.75
113 Multiple endocrine neoplasia type 2A (MEN 2A) syndrome in a South African family. Biochemistry and molecular genetics. S Afr Med J 1991 0.75
114 [The genetics of medullary cancer of the thyroid]. Ann Endocrinol (Paris) 1988 0.75