Published in J Clin Endocrinol Metab on September 01, 1998
Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet (2001) 2.32
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
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
RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease. J Med Genet (2000) 1.05
Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease. Am J Hum Genet (1999) 1.04
Specific haplotypes of the RET proto-oncogene are over-represented in patients with sporadic papillary thyroid carcinoma. J Med Genet (2002) 0.91
Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease. Pediatr Surg Int (2012) 0.85
The Hirschsprung's-multiple endocrine neoplasia connection. Clinics (Sao Paulo) (2012) 0.85
Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET. Pediatr Surg Int (2008) 0.83
The association between Hirschsprung's disease and multiple endocrine neoplasia type 2a: a systematic review. Pediatr Surg Int (2014) 0.77
Hereditary syndromes predisposing to endocrine tumors and their skin manifestations. Rev Endocr Metab Disord (2016) 0.75
RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family. Clinics (Sao Paulo) (2012) 0.75
The risk of medullary thyroid carcinoma in patients with Hirschsprung's disease. Pediatr Surg Int (2006) 0.75
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
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
Is secondary haemorrhage after tonsillectomy in adults an infective condition? Objective measures of infection in a prospective cohort. Clin Otolaryngol (2007) 5.45
P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase. Proc Natl Acad Sci U S A (1997) 5.32
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
Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nat Genet (1997) 4.39
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet (2005) 4.14
Complete transformation by adenovirus 2 requires both E1A proteins. Cell (1984) 3.80
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
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
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
Pneumococcal bacteraemia in two immunocompetent adults with otitis media and bronchitis. Lancet (1990) 2.59
Gene expression in papillary thyroid carcinoma reveals highly consistent profiles. Proc Natl Acad Sci U S A (2001) 2.38
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
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
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
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
Apolipoprotein L gene family: tissue-specific expression, splicing, promoter regions; discovery of a new gene. J Lipid Res (2001) 2.02
PTEN mutations in gliomas and glioneuronal tumors. Oncogene (1998) 2.01
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet (1996) 2.01
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
Benefits of cognitive-motor intervention in MCI and mild to moderate Alzheimer disease. Neurology (2004) 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
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
Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. Cancer Res (2000) 1.78
Targeted mutagenesis of Smad1 reveals an essential role in chorioallantoic fusion. Dev Biol (2001) 1.71
Treatment of human brucellosis with doxycycline and gentamicin. Antimicrob Agents Chemother (1997) 1.70
Molecular phylogenetic analysis of Nitrobacter spp. Int J Syst Bacteriol (1994) 1.69
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
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Mol Genet (1995) 1.68
Genetic model of multi-step breast carcinogenesis involving the epithelium and stroma: clues to tumour-microenvironment interactions. Hum Mol Genet (2001) 1.66
Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci. J Clin Endocrinol Metab (1998) 1.63
Germline SDHD mutation in familial phaeochromocytoma. Lancet (2001) 1.62
Survival advantage observed with the use of metformin in patients with type II diabetes and colorectal cancer. Br J Cancer (2012) 1.61
Screening mammography for frail older women: what are the burdens? J Gen Intern Med (2001) 1.59
Prospective, randomized comparison of effect of long-term treatment with metoprolol or carvedilol on symptoms, exercise, ejection fraction, and oxidative stress in heart failure. Circulation (1999) 1.59
Somatic mitochondrial DNA (mtDNA) mutations in papillary thyroid carcinomas and differential mtDNA sequence variants in cases with thyroid tumours. Oncogene (2000) 1.58
Integrating acute and long-term care for high-cost populations. Health Aff (Millwood) (2001) 1.57
PTEN induces apoptosis and cell cycle arrest through phosphoinositol-3-kinase/Akt-dependent and -independent pathways. Hum Mol Genet (2001) 1.56
Analysis of the 10q23 chromosomal region and the PTEN gene in human sporadic breast carcinoma. Br J Cancer (1999) 1.54
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. Hum Mol Genet (1994) 1.51
Germline PTEN mutations in Cowden syndrome-like families. J Med Genet (1998) 1.51
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease. Nat Genet (1996) 1.49
Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome. Cancer Res (1997) 1.47
Allelic imbalance, including deletion of PTEN/MMACI, at the Cowden disease locus on 10q22-23, in hamartomas from patients with Cowden syndrome and germline PTEN mutation. Genes Chromosomes Cancer (1998) 1.43
Randomized comparative trial of triflusal and aspirin following acute myocardial infarction. Eur Heart J (2000) 1.43
Myocardial micronecrosis produced by microsphere embolization. Role of an alpha-adrenergic tonic influence on the coronary microcirculation. Circ Res (1984) 1.43
Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome. Oncogene (2008) 1.41
Retracted [Pediatric surgery 2.0]. Cir Pediatr (2012) 1.40
A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. J Med Genet (2001) 1.40
Reduced employment in caregivers of frail elders: impact of ethnicity, patient clinical characteristics, and caregiver characteristics. J Gerontol A Biol Sci Med Sci (2001) 1.37
The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases. Am J Hum Genet (1997) 1.37
Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. Gut (2000) 1.34
Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinoma. Clin Endocrinol (Oxf) (1996) 1.31
[Spanish version of the CAM-ICU (Confusion Assessment Method for the Intensive Care Unit). Pilot study of validation]. Med Intensiva (2009) 1.31
Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. J Clin Endocrinol Metab (1997) 1.31
Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet (2009) 1.31
Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. J Med Genet (2003) 1.31
Experimental Trichosporon infection in persistently granulocytopenic rabbits: implications for pathogenesis, diagnosis, and treatment of an emerging opportunistic mycosis. J Infect Dis (1992) 1.30
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. J Med Genet (2006) 1.27
Management of bevacizumab-associated bowel perforation: a case series and review of the literature. Ann Oncol (2007) 1.26
Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. Hum Mol Genet (1998) 1.26
Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma. J Med Genet (1995) 1.26
The relationship between ethnicity and advance directives in a frail older population. J Am Geriatr Soc (1996) 1.25
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. Am J Med Genet (1998) 1.24
Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes. J Med Genet (2004) 1.22
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. J Med Genet (2001) 1.21
An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome. Am J Hum Genet (2003) 1.21
PTEN/MMAC1/TEP1 involvement in primary prostate cancers. Oncogene (1998) 1.20
Differential regulation of PTEN expression by androgen receptor in prostate and breast cancers. Oncogene (2011) 1.20
Transient ectopic expression of PTEN in thyroid cancer cell lines induces cell cycle arrest and cell type-dependent cell death. Hum Mol Genet (2001) 1.20
Profound structural alterations of the extracellular collagen matrix in postischemic dysfunctional ("stunned") but viable myocardium. J Am Coll Cardiol (1987) 1.20
Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population. Mol Genet Metab (1998) 1.19
Systemic chemotherapy and surgical cytoreduction for poorly differentiated and signet ring cell adenocarcinomas of the appendix. Ann Oncol (2011) 1.18
Risk and penetrance of primary hyperparathyroidism in multiple endocrine neoplasia type 2A families with mutations at codon 634 of the RET proto-oncogene. Groupe D'etude des Tumeurs à Calcitonine. J Clin Endocrinol Metab (1998) 1.18
Changes in endometrial PTEN expression throughout the human menstrual cycle. J Clin Endocrinol Metab (2000) 1.18
Retinitis pigmentosa in Spain. The Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa. Clin Genet (1995) 1.17
Case management in capitated long-term care. Health Care Financ Rev (1988) 1.17
Iatrogenic outbreak of M. chelonae skin abscesses. Epidemiol Infect (1996) 1.17
Male breast cancer in Cowden syndrome patients with germline PTEN mutations. J Med Genet (2001) 1.17