Published in J Med Genet on August 01, 2000
Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet (2001) 2.32
An entropy-based genome-wide transmission/disequilibrium test. Hum Genet (2007) 1.65
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease. Proc Natl Acad Sci U S A (2009) 1.56
Genetic basis of Hirschsprung's disease. Pediatr Surg Int (2009) 1.25
A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma. Am J Hum Genet (2002) 1.09
Specific haplotypes of the RET proto-oncogene are over-represented in patients with sporadic papillary thyroid carcinoma. J Med Genet (2002) 0.91
Pathways systematically associated to Hirschsprung's disease. Orphanet J Rare Dis (2013) 0.90
Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis. BMC Med Genet (2011) 0.87
Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease. Pediatr Surg Int (2012) 0.85
Hirschsprung's disease and the brain. Pediatr Surg Int (2010) 0.84
A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease. Am J Hum Genet (2002) 0.83
RET and PHOX2B genetic polymorphisms and Hirschsprung's disease susceptibility: a meta-analysis. PLoS One (2014) 0.82
Association of RET codon 691 polymorphism in radiation-induced human thyroid tumours with C-cell hyperplasia in peritumoural tissue. Br J Cancer (2002) 0.81
Multiple endocrine neoplasias type 2B and RET proto-oncogene. Ital J Pediatr (2012) 0.80
RET variants and haplotype analysis in a cohort of Czech patients with Hirschsprung disease. PLoS One (2014) 0.79
Hirschsprung's disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives. Pediatr Res (2016) 0.76
Polymerase chain reaction-single strand conformational polymorphism analysis of rearranged during transfection proto-oncogene in Chinese familial Hirschsprung's disease. World J Gastroenterol (2005) 0.75
Mutation of RET gene in Chinese patients with Hirschsprung's disease. World J Gastroenterol (2002) 0.75
Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet (1993) 51.42
Haplotype relative risks: an easy reliable way to construct a proper control sample for risk calculations. Ann Hum Genet (1987) 13.98
The TDT and other family-based tests for linkage disequilibrium and association. Am J Hum Genet (1996) 11.61
A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell (1994) 4.35
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature (1994) 3.46
Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature (1994) 3.33
Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet (1994) 2.83
The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families. N Engl J Med (1967) 2.36
A genetic study of Hirschsprung disease. Am J Hum Genet (1990) 2.30
Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. Hum Mol Genet (1994) 2.04
Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and hirschsprung disease. Hum Mutat (1997) 2.04
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet (1996) 2.01
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nat Genet (1993) 1.79
Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nat Genet (1996) 1.77
A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proc Natl Acad Sci U S A (2000) 1.76
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Mol Genet (1995) 1.68
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet (1996) 1.65
The ret proto-oncogene is consistently expressed in human pheochromocytomas and thyroid medullary carcinomas. Oncogene (1990) 1.52
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. Hum Mol Genet (1994) 1.51
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease. Nat Genet (1996) 1.49
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum Mol Genet (1995) 1.43
RET proto-oncogene in the development of human cancer. J Clin Oncol (1999) 1.38
Endothelin receptor-mediated signaling in hirschsprung disease. Hum Mol Genet (1996) 1.26
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene. Oncogene (1994) 1.22
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. Hum Mol Genet (1996) 1.19
Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression. J Med Genet (1999) 1.17
De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease. Hum Mol Genet (1996) 1.15
Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population. Hum Mol Genet (1996) 1.10
Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease. Am J Hum Genet (1999) 1.04
Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation. Oncogene (1999) 1.03
Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease. Hum Mol Genet (1996) 1.02
Incidence of RET mutations in patients with Hirschsprung's disease. J Pediatr Surg (2000) 1.01
Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. Eur J Hum Genet (1998) 1.00
Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease. J Clin Endocrinol Metab (1998) 0.99
Expression of the ret proto-oncogene product in human normal and neoplastic tissues of neural crest origin. J Pathol (1994) 0.97
Low frequency of RET mutations in Hirschsprung disease in Sweden. Clin Genet (1998) 0.93
Altered PTEN expression as a diagnostic marker for the earliest endometrial precancers. J Natl Cancer Inst (2000) 16.92
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet (1997) 10.71
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet (2013) 9.46
The hypocretins: hypothalamus-specific peptides with neuroexcitatory activity. Proc Natl Acad Sci U S A (1998) 9.32
Aberrant CpG-island methylation has non-random and tumour-type-specific patterns. Nat Genet (2000) 8.58
IkappaB kinase-beta: NF-kappaB activation and complex formation with IkappaB kinase-alpha and NIK. Science (1997) 7.57
Identification and characterization of an IkappaB kinase. Cell (1997) 6.71
Quantum-dot-tagged microbeads for multiplexed optical coding of biomolecules. Nat Biotechnol (2001) 6.30
Catalytic specificity of protein-tyrosine kinases is critical for selective signalling. Nature (1995) 6.16
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature (1993) 5.81
Pervasive density-dependent recruitment enhances seedling diversity in a tropical forest. Nature (2000) 5.62
Is secondary haemorrhage after tonsillectomy in adults an infective condition? Objective measures of infection in a prospective cohort. Clin Otolaryngol (2007) 5.45
IRAK: a kinase associated with the interleukin-1 receptor. Science (1996) 5.32
P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase. Proc Natl Acad Sci U S A (1997) 5.32
Racial differences in the incidence of cardiac arrest and subsequent survival. The CPR Chicago Project. N Engl J Med (1993) 4.97
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet (1998) 4.72
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet (2001) 4.71
Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1. Hum Mol Genet (1999) 4.55
Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nat Genet (1997) 4.39
The E2F1-3 transcription factors are essential for cellular proliferation. Nature (2001) 4.37
Effect of local medical opinion leaders on quality of care for acute myocardial infarction: a randomized controlled trial. JAMA (1998) 4.36
Current databases on biological variation: pros, cons and progress. Scand J Clin Lab Invest (1999) 4.30
Genomewide association for schizophrenia in the CATIE study: results of stage 1. Mol Psychiatry (2008) 4.14
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet (2005) 4.14
Neuronal correlates of parametric working memory in the prefrontal cortex. Nature (1999) 3.98
Prognostic significance of c-erbB-2/neu amplification and epidermal growth factor receptor (EGFR) in primary breast cancer and their relation to estradiol receptor (ER) status. Clin Chim Acta (1997) 3.93
Complete transformation by adenovirus 2 requires both E1A proteins. Cell (1984) 3.80
Liposome-mediated CFTR gene transfer to the nasal epithelium of patients with cystic fibrosis. Nat Med (1995) 3.61
Excessive CpG island hypermethylation in cancer cell lines versus primary human malignancies. Hum Mol Genet (2001) 3.58
Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet (1996) 3.53
HLA and AIDS: a cautionary tale. Trends Mol Med (2001) 3.51
Linkage disequilibrium mapping in isolated populations: the example of Finland revisited. Proc Natl Acad Sci U S A (1998) 3.35
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet (1999) 3.22
Expression profiling reveals fundamental biological differences in acute myeloid leukemia with isolated trisomy 8 and normal cytogenetics. Proc Natl Acad Sci U S A (2001) 3.01
Somatosensory discrimination based on cortical microstimulation. Nature (1998) 2.85
Immunohistochemical evidence of loss of PTEN expression in primary ductal adenocarcinomas of the breast. Am J Pathol (1999) 2.79
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. Lancet (2001) 2.77
Loss-of-function mutations in PPAR gamma associated with human colon cancer. Mol Cell (1999) 2.71
Validity, reliability and ease of use in the field of five rapid tests for the diagnosis of Plasmodium falciparum malaria in Uganda. Trans R Soc Trop Med Hyg (2002) 2.66
Structural analysis of a set of proteins resulting from a bacterial genomics project. Proteins (2005) 2.59
Pneumococcal bacteraemia in two immunocompetent adults with otitis media and bronchitis. Lancet (1990) 2.59
Long-term effectiveness of diet-plus-exercise interventions vs. diet-only interventions for weight loss: a meta-analysis. Obes Rev (2009) 2.49
How malleable is the eukaryotic genome? Extreme rate of chromosomal rearrangement in the genus Drosophila. Genome Res (2001) 2.48
IRAK-M is a novel member of the Pelle/interleukin-1 receptor-associated kinase (IRAK) family. J Biol Chem (1999) 2.43
Gene expression in papillary thyroid carcinoma reveals highly consistent profiles. Proc Natl Acad Sci U S A (2001) 2.38
Defects in development of the kidney, heart and eye vasculature in mice homozygous for a hypomorphic Notch2 mutation. Development (2001) 2.37
Direct gene transfer with DNA-liposome complexes in melanoma: expression, biologic activity, and lack of toxicity in humans. Proc Natl Acad Sci U S A (1993) 2.35
Functional human T-cell immunity and osteoprotegerin ligand control alveolar bone destruction in periodontal infection. J Clin Invest (2000) 2.32
Delayed hospital presentation in patients who have had acute myocardial infarction. Ann Intern Med (1997) 2.30
Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome. J Med Genet (2004) 2.29
Mutation and expression analyses reveal differential subcellular compartmentalization of PTEN in endocrine pancreatic tumors compared to normal islet cells. Am J Pathol (2000) 2.27
Epigenetic PTEN silencing in malignant melanomas without PTEN mutation. Am J Pathol (2000) 2.23
Effects of ligand activation of peroxisome proliferator-activated receptor gamma in human prostate cancer. Proc Natl Acad Sci U S A (2000) 2.23
Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer. Nat Genet (2000) 2.15
PEGylated PLGA nanoparticles as protein carriers: synthesis, preparation and biodistribution in rats. J Control Release (2001) 2.15
Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing. JAMA (1999) 2.14
Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet (1994) 2.14
Is unexpected peritoneal carcinomatosis still a contraindication for resection of colorectal liver metastases? Combined resection of colorectal liver metastases with peritoneal deposits discovered intra-operatively. Eur J Surg Oncol (2013) 2.09
PTEN is inversely correlated with the cell survival factor Akt/PKB and is inactivated via multiple mechanismsin haematological malignancies. Hum Mol Genet (1999) 2.08
Somatic deletions and mutations in the Cowden disease gene, PTEN, in sporadic thyroid tumors. Cancer Res (1997) 2.06
Excessive activation of the alternative complement pathway in autosomal dominant polycystic kidney disease. J Intern Med (2014) 2.06
Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1. J Med Genet (2000) 2.05
Differential nuclear and cytoplasmic expression of PTEN in normal thyroid tissue, and benign and malignant epithelial thyroid tumors. Am J Pathol (2000) 2.05
The phenotypic difference discards sib-pair QTL linkage information. Am J Hum Genet (1997) 2.03
Apolipoprotein L gene family: tissue-specific expression, splicing, promoter regions; discovery of a new gene. J Lipid Res (2001) 2.02
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet (1996) 2.01
PTEN mutations in gliomas and glioneuronal tumors. Oncogene (1998) 2.01
Molecular characterization of two natural hotspots in the Drosophila buzzatii genome induced by transposon insertions. Genome Res (2001) 1.98
Hydroporation as the mechanism of hydrodynamic delivery. Gene Ther (2004) 1.97
Analysis of PTEN and the 10q23 region in primary prostate carcinomas. Oncogene (1998) 1.97
Referral for cancer genetics consultation: a review and compilation of risk assessment criteria. J Med Genet (2004) 1.96
PTEN coordinates G(1) arrest by down-regulating cyclin D1 via its protein phosphatase activity and up-regulating p27 via its lipid phosphatase activity in a breast cancer model. Hum Mol Genet (2001) 1.87
Sensing without touching: psychophysical performance based on cortical microstimulation. Neuron (2000) 1.86
The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology. Nat Med (1996) 1.86
Molecular characterisation of a common SDHB deletion in paraganglioma patients. J Med Genet (2007) 1.86
PTEN suppresses breast cancer cell growth by phosphatase activity-dependent G1 arrest followed by cell death. Cancer Res (1999) 1.85
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. Hum Mol Genet (2000) 1.84
Molecular identification of latent precancers in histologically normal endometrium. Cancer Res (2001) 1.84
Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. JAMA (1995) 1.83
Frequent loss of PTEN expression is linked to elevated phosphorylated Akt levels, but not associated with p27 and cyclin D1 expression, in primary epithelial ovarian carcinomas. Am J Pathol (2001) 1.82
Generation of a widespread Drosophila inversion by a transposable element. Science (1999) 1.81
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. Am J Hum Genet (2001) 1.81
Recombination and gene flux caused by gene conversion and crossing over in inversion heterokaryotypes. Genetics (1997) 1.79
Prognostic significance and surgical management of locoregional lymph node metastases in papillary thyroid cancer. World J Surg (1995) 1.78
The voltage sensitive Lc-type Ca2+ channel is functionally coupled to the exocytotic machinery. Proc Natl Acad Sci U S A (1999) 1.78
Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. Cancer Res (2000) 1.78
Methylation of thymine residues during oligonucleotide synthesis. Nucleic Acids Res (1985) 1.74
Targeted mutagenesis of Smad1 reveals an essential role in chorioallantoic fusion. Dev Biol (2001) 1.71
PTEN inhibits insulin-stimulated MEK/MAPK activation and cell growth by blocking IRS-1 phosphorylation and IRS-1/Grb-2/Sos complex formation in a breast cancer model. Hum Mol Genet (2001) 1.69
HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours. J Med Genet (2003) 1.69
Intracytoplasmic sperm injection as a routine indication in low responder patients. Hum Reprod (1998) 1.68
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Mol Genet (1995) 1.68
Recruitment of IRAK to the interleukin 1 receptor complex requires interleukin 1 receptor accessory protein. Proc Natl Acad Sci U S A (1997) 1.67
Genetic model of multi-step breast carcinogenesis involving the epithelium and stroma: clues to tumour-microenvironment interactions. Hum Mol Genet (2001) 1.66