Analysis of germline mutations in the APC gene in familial adenomatous polyposis patients.

PubWeight™: 0.75‹?›

🔗 View Article (PMID 15952110)

Published in Zhonghua Yi Xue Yi Chuan Xue Za Zhi on June 01, 2005

Authors

Xiao-rong Liu1, Xiang-nian Shan, W Friedl, S Uhlhaas, P Propping, Ya-ping Wang

Author Affiliations

1: Department of Medical Genetics, Medical School, Nanjing University, Nanjing, Jiangsu, 210093, PR China.

Articles by these authors

A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder. Mol Psychiatry (2007) 6.72

Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet (2007) 4.62

A potassium channel mutation in neonatal human epilepsy. Science (1998) 4.17

Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut (2010) 3.22

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

A similarity-based method for genome-wide prediction of disease-relevant human genes. Bioinformatics (2002) 3.04

Polymorphisms in the dopamine D2 receptor gene and their relationships to striatal dopamine receptor density of healthy volunteers. Mol Psychiatry (1999) 2.90

Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut (2008) 2.65

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

Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum Mol Genet (1995) 2.13

Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis. Hum Mol Genet (2000) 2.04

[S3-Guidelines Conference "Colorectal Carcinoma" 2004]. Z Gastroenterol (2004) 2.03

Excess of high activity monoamine oxidase A gene promoter alleles in female patients with panic disorder. Hum Mol Genet (1999) 1.98

Two variants in Ankyrin 3 (ANK3) are independent genetic risk factors for bipolar disorder. Mol Psychiatry (2008) 1.92

High-resolution analysis of a hypervariable region in the human apolipoprotein B gene. Am J Hum Genet (1989) 1.91

Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia. J Lipid Res (1990) 1.90

DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation. Neurology (2007) 1.81

Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am J Hum Genet (1996) 1.70

Evidence for linkage of spelling disability to chromosome 15. Am J Hum Genet (1998) 1.65

Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Gut (2001) 1.63

Examination of G72 and D-amino-acid oxidase as genetic risk factors for schizophrenia and bipolar affective disorder. Mol Psychiatry (2004) 1.60

Evaluation of linkage of bipolar affective disorder to chromosome 18 in a sample of 57 German families. Mol Psychiatry (1999) 1.59

Novel Hairless mutations in two kindreds with autosomal recessive papular atrichia. J Invest Dermatol (1999) 1.58

Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome. J Pathol (2008) 1.56

Attenuated familial adenomatous polyposis due to a mutation in the 3' part of the APC gene. A clue for understanding the function of the APC protein. Hum Genet (1996) 1.55

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. Nat Genet (2000) 1.55

ADULT syndrome allelic to limb mammary syndrome (LMS)? Am J Med Genet (2000) 1.55

Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer. Lancet (1994) 1.48

An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum Mol Genet (1997) 1.45

[Secondary dislocations after Synex Cage implantation]. Unfallchirurg (2002) 1.45

A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. J Med Genet (2004) 1.45

Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorder. Mol Psychiatry (2011) 1.43

Microsatellite instability analysis: a multicenter study for reliability and quality control. Cancer Res (1997) 1.43

A genome screen for genes predisposing to bipolar affective disorder detects a new susceptibility locus on 8q. Hum Mol Genet (2001) 1.42

Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria. Am J Hum Genet (1998) 1.41

High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet (2007) 1.34

Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia. Hum Mol Genet (1998) 1.34

DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2. J Biochem Biophys Methods (2001) 1.30

Polymorphic imprinting of the serotonin-2A (5-HT2A) receptor gene in human adult brain. Brain Res Mol Brain Res (1998) 1.28

Analysis of 10 independent samples provides evidence for association between schizophrenia and a SNP flanking fibroblast growth factor receptor 2. Mol Psychiatry (2008) 1.28

Prenatal diagnosis of autosomal dominant polycystic kidney disease with a DNA probe. Lancet (1986) 1.25

Somatic mutations of WNT/wingless signaling pathway components in primitive neuroectodermal tumors. Int J Cancer (2001) 1.23

A gene for universal congenital alopecia maps to chromosome 8p21-22. Am J Hum Genet (1998) 1.23

Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis. J Med Genet (2005) 1.22

Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26-q26.1. Hum Genet (1993) 1.21

S3 guidelines for colorectal carcinoma: results of an evidence-based consensus conference on February 6/7, 2004 and June 8/9, 2007 (for the topics IV, VI and VII). Z Gastroenterol (2010) 1.20

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nat Genet (2001) 1.20

Pseudodeficiency of arylsulfatase A: a common genetic polymorphism with possible disease implications. Hum Genet (1989) 1.16

Chromocolonoscopy detects more adenomas than white light colonoscopy or narrow band imaging colonoscopy in hereditary nonpolyposis colorectal cancer screening. Endoscopy (2009) 1.16

Genetic aspects of the EEG: an investigation into the within-pair similarity of monozygotic and dizygotic twins with a new method of analysis. Electroencephalogr Clin Neurophysiol (1987) 1.15

Association between the 5' UTR variant C178T of the serotonin receptor gene HTR3A and bipolar affective disorder. Pharmacogenetics (2001) 1.14

An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics. FEBS Lett (1996) 1.12

Microsatellite instability-a useful diagnostic tool to select patients at high risk for hereditary non-polyposis colorectal cancer: a study in different groups of patients with colorectal cancer. Gut (1999) 1.10

Systematic search for variation in the human norepinephrine transporter gene: identification of five naturally occurring missense mutations and study of association with major psychiatric disorders. Am J Med Genet (1996) 1.09

Frequent 4-bp deletion in exon 9 of the SMAD4/MADH4 gene in familial juvenile polyposis patients. Genes Chromosomes Cancer (1999) 1.08

Systematic mutation screening and association study of the A1 and A2a adenosine receptor genes in panic disorder suggest a contribution of the A2a gene to the development of disease. Mol Psychiatry (1998) 1.07

Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes. Hum Mutat (1997) 1.07

Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis. Hum Mol Genet (1994) 1.05

Nonreplication of association between mu-opioid-receptor gene (OPRM1) A118G polymorphism and substance dependence. Am J Med Genet (2001) 1.05

[Not Available]. Medizinhist J (1991) 1.05

Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene? Hum Genet (1996) 1.04

The kinetics of ethanol absorption and elimination in twins and supplementary repetitive experiments in singleton subjects. Eur J Clin Pharmacol (1977) 1.04

Different familial transmission patterns in bipolar I disorder with onset before and after age 25. Am J Med Genet (2001) 1.03

Polymorphisms in the dopamine, serotonin, and norepinephrine transporter genes and their relationships to monoamine metabolite concentrations in CSF of healthy volunteers. Psychiatry Res (1998) 1.02

Genome-wide scan for genes involved in bipolar affective disorder in 70 European families ascertained through a bipolar type I early-onset proband: supportive evidence for linkage at 3p14. Mol Psychiatry (2006) 1.01

A novel missense mutation in the DNA mismatch repair gene hMLH1 present among East Asians but not among Europeans. Hum Hered (1998) 0.99

Quantitative and qualitative assay of amniotic-fluid acetylcholinesterase in the prenatal diagnosis of neural tube defects. Hum Genet (1981) 0.99

Frequency of hereditary non-polyposis colorectal cancer among unselected patients with colorectal cancer in Germany. Digestion (2006) 0.99

Systematic screening for mutations in the human serotonin-2A (5-HT2A) receptor gene: identification of two naturally occurring receptor variants and association analysis in schizophrenia. Hum Genet (1996) 0.98

A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation. Am J Gastroenterol (2001) 0.98

Association versus linkage studies in psychosis genetics. J Med Genet (1993) 0.97

MSH6 mutation in Muir-Torre syndrome: could this be a rare finding? Br J Dermatol (2007) 0.96

Comparative investigations on the chemical induction of point mutations and dominant lethal mutations in mice. Mol Gen Genet (1972) 0.95

Angiopoietin-1 preconditioning enhances survival and functional recovery of mesenchymal stem cell transplantation. J Zhejiang Univ Sci B (2012) 0.95

Pharmacogenetics. Rev Physiol Biochem Pharmacol (1978) 0.94

Localization of a gene for syndactyly type 1 to chromosome 2q34-q36. Am J Hum Genet (2000) 0.94

Neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) and panic disorder: an association study. Am J Med Genet (1997) 0.94

Systematic screening for DNA sequence variation in the coding region of the human dopamine transporter gene (DAT1). Mol Psychiatry (2000) 0.93

Apolipoprotein E polymorphism influences the cerebral metabolic pattern in Alzheimer's disease. Neurosci Lett (1998) 0.93

Genetic variation of the FAT gene at 4q35 is associated with bipolar affective disorder. Mol Psychiatry (2007) 0.93