Published in J Bone Miner Res on January 01, 1999
Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues. BMC Genet (2008) 1.34
Recapitulation of pancreatic neuroendocrine tumors in human multiple endocrine neoplasia type I syndrome via Pdx1-directed inactivation of Men1. Cancer Res (2009) 1.05
Protein interactions provide new insight into Nm23/nucleoside diphosphate kinase functions. J Bioenerg Biomembr (2003) 0.79
Menin: a tumor suppressor that mediates postsynaptic receptor expression and synaptogenesis between central neurons of Lymnaea stagnalis. PLoS One (2014) 0.79
Multiple endocrine neoplasia type 1 (MEN1) as a cancer predisposition syndrome: clues into the mechanisms of MEN1-related carcinogenesis. Yale J Biol Med (2006) 0.79
Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab (2001) 6.12
Pax6 controls progenitor cell identity and neuronal fate in response to graded Shh signaling. Cell (1997) 4.40
A common molecular basis for three inherited kidney stone diseases. Nature (1996) 4.26
A clinicopathological study of autism. Brain (1998) 3.49
A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med (1996) 3.20
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet (2002) 3.07
Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities. Cell (1996) 3.01
Acute disseminated encephalomyelitis, multiphasic disseminated encephalomyelitis and multiple sclerosis in children. Brain (2000) 2.96
GATA3 haplo-insufficiency causes human HDR syndrome. Nature (2000) 2.73
Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. Hum Mol Genet (1997) 2.45
Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumours (NETs). Gut (2011) 2.14
Cytotoxic lymphocytes from rats depleted of thymus processed cells. Nat New Biol (1971) 2.02
The role of immunoglobulins in lymphocyte-mediated cell damage, in vitro. II. The mechanism of target cell damage by lymphoid cells from immunized rats. Immunology (1970) 1.96
Outcome of anorexia nervosa. Lancet (1979) 1.94
Clinical studies of multiple endocrine neoplasia type 1 (MEN1) QJM (1996) 1.93
Genetic contribution to bone metabolism, calcium excretion, and vitamin D and parathyroid hormone regulation. J Bone Miner Res (2001) 1.93
Multiple endocrine neoplasia--syndromes of the twentieth century. J Clin Endocrinol Metab (1998) 1.89
Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis. Hum Mol Genet (2000) 1.87
Role of Pax6 in development of the cerebellar system. Development (1999) 1.81
Graded sonic hedgehog signaling and the specification of cell fate in the ventral neural tube. Cold Spring Harb Symp Quant Biol (1997) 1.70
Failure of certain cytotoxic lymphocytes to respond mitotically to phytohaemagglutinin. Nature (1970) 1.62
Characterization of mutations in patients with multiple endocrine neoplasia type 1. Am J Hum Genet (1998) 1.59
Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. N Engl J Med (1992) 1.49
Reduced activities of thiamine-dependent enzymes in the brains and peripheral tissues of patients with Alzheimer's disease. Arch Neurol (1988) 1.48
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. Neurology (2004) 1.47
Reduced antibody-dependent cell-mediated cytotoxicity in systemic lupus erythematosus. Clin Exp Immunol (1975) 1.44
A familial syndrome due to Arg648Stop mutation in the X-linked renal chloride channel gene. Pediatr Nephrol (1999) 1.41
Clinical outcomes of hemispherectomy for epilepsy in childhood and adolescence. Brain (2003) 1.40
Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease. Hum Mol Genet (1999) 1.38
Genetics of neuroendocrine and carcinoid tumours. Endocr Relat Cancer (2003) 1.37
A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism. Nat Genet (1992) 1.35
Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31. Am J Hum Genet (1995) 1.32
Brachyury--a gene affecting mouse gastrulation and early organogenesis. Dev Suppl (1992) 1.31
Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders. Hum Mol Genet (1997) 1.27
Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells. J Clin Invest (1996) 1.27
Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis). Hum Mol Genet (1994) 1.27
MHC-linked olfactory receptor loci exhibit polymorphism and contribute to extended HLA/OR-haplotypes. Genome Res (2000) 1.25
Menin interacts directly with the homeobox-containing protein Pem. Biochem Biophys Res Commun (2001) 1.23
Multiple endocrine neoplasia type 1. Endocr Relat Cancer (1999) 1.21
Mutational analysis of PHEX gene in X-linked hypophosphatemia. J Clin Endocrinol Metab (1998) 1.20
Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies. J Clin Invest (1993) 1.20
Glomerular protein sieving and implications for renal failure in Fanconi syndrome. Kidney Int (2001) 1.19
Anorexia nervosa. Psychoneurotic characteristics of parents: relationship to prognosis. A quantitative study. J Psychosom Res (1974) 1.18
UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. J Clin Endocrinol Metab (2003) 1.18
GNAS1 mutational analysis in pseudohypoparathyroidism. Clin Endocrinol (Oxf) (1998) 1.17
Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis. Hum Genet (1986) 1.17
Parafibromin--functional insights. J Intern Med (2009) 1.15
The distribution of antibody and antibody-producing cells after immunization with xenogeneic cells. Immunology (1972) 1.15
Hyposplenism and gluten-sensitive enteropathy. Natural history, incidence, and relationship to diet and small bowel morphology. Gastroenterology (1984) 1.14
Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome. J Intern Med (2005) 1.12
Characterization of renal chloride channel (CLCN5) mutations in Dent's disease. J Am Soc Nephrol (2000) 1.11
Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours. Clin Endocrinol (Oxf) (2006) 1.11
Genetic disorders of renal electrolyte transport. N Engl J Med (1999) 1.10
Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis). Genomics (1995) 1.09
Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5). J Clin Invest (1997) 1.08
Clinical features of anorexia nervosa. A study of a consecutive series of 102 female patients. J Psychosom Res (1980) 1.07
Chimeric analysis of T (Brachyury) gene function. Development (1993) 1.07
Whipple's disease confined to the CNS presenting with multiple intracerebral mass lesions. J Neurol Neurosurg Psychiatry (1991) 1.04
Structure and methylation of the human calcitonin/alpha-CGRP gene. Nucleic Acids Res (1989) 1.03
Class II histocompatibility antigens on human dendritic cells. Immunology (1987) 1.03
Autism and megalencephaly. Lancet (1993) 1.02
Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies. J Med Genet (1989) 1.02
Calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis. Clin Endocrinol (Oxf) (1996) 1.01
The distribution of dendritic cells in the synovial fluids of patients with arthritis. Clin Exp Immunol (1986) 1.01
Fistula-in-ano in childhood: a congenital etiology. J Pediatr Surg (1985) 1.01
The human acute-phase serum amyloid A gene family: structure, evolution and expression in hepatoma cells. Scand J Immunol (1991) 1.00
Tubular proteinuria defined by a study of Dent's (CLCN5 mutation) and other tubular diseases. Kidney Int (2000) 1.00
Characterization of carrier females and affected males with X-linked recessive nephrolithiasis. J Am Soc Nephrol (1995) 0.99
Progressive bulbar paralysis of childhood. A reappraisal of Fazio-Londe disease. Brain (1992) 0.99
Allelic deletion in pituitary adenomas reflects aggressive biological activity and has potential value as a prognostic marker. J Clin Endocrinol Metab (1997) 0.99
A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection. Clin Genet (1986) 0.99
The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred. QJM (2001) 0.99
Immunologic responses in patients with lepromatous leprosy. Arch Dermatol (1976) 0.98
Alexander's disease: clues to diagnosis. J Child Neurol (1993) 0.96
Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22. Hum Mol Genet (1993) 0.96
Gain of 1q and loss of 22 are the most common changes detected by comparative genomic hybridisation in paediatric ependymoma. Genes Chromosomes Cancer (2001) 0.96
Molecular genetic studies of sporadic pituitary tumors. J Clin Endocrinol Metab (1994) 0.96
Ki-67 immunolabelling index is a prognostic indicator in childhood posterior fossa ependymomas. Neuropathol Appl Neurobiol (1998) 0.96
Evidence for the role of megalin in renal uptake of transthyretin. J Biol Chem (2000) 0.95
Localization of gastrinomas by selective intra-arterial calcium injection. Clin Endocrinol (Oxf) (2002) 0.94
Cell number requirements for lymphocyte stimulation in vitro: changes during the course of multiple sclerosis and the effects of immunosuppression. Clin Exp Immunol (1981) 0.93
Multiple endocrine neoplasia. Baillieres Clin Endocrinol Metab (1988) 0.93
Somatic mutations in MEN type 1 tumors, consistent with the Knudson "two-hit" hypothesis. J Clin Endocrinol Metab (2001) 0.93
Localization of the Tamm-Horsfall glycoprotein (uromodulin) gene to chromosome 16p12.3-16p13.11. Ann Hum Genet (1993) 0.92
Identification of extensive genomic loss and gain by comparative genomic hybridisation in malignant astrocytoma in children and young adults. Genes Chromosomes Cancer (2001) 0.92
Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease. Kidney Int (2000) 0.92
Metastatic parathyroid carcinoma in the MEN2A syndrome. Clin Endocrinol (Oxf) (1997) 0.92