Published in J Clin Endocrinol Metab on November 01, 2005
Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines. J Exp Med (2010) 3.93
Effector mechanisms of the autoimmune syndrome in the murine model of autoimmune polyglandular syndrome type 1. J Immunol (2008) 1.38
Genetic Susceptibility to Fungal Infections in Humans. Curr Fungal Infect Rep (2011) 1.04
Autoimmune polyendocrine syndromes: clues to type 1 diabetes pathogenesis. Immunity (2010) 1.03
The role of AIRE in human autoimmune disease. Nat Rev Endocrinol (2010) 1.00
Mendelian genetics of human susceptibility to fungal infection. Cold Spring Harb Perspect Med (2014) 0.89
Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy. Clin Dev Immunol (2010) 0.79
A child with autoimmune polyendocrinopathy candidiasis and ectodermal dysplasia treated with immunosuppression: a case report. J Med Case Rep (2013) 0.78
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation. Int J Endocrinol (2012) 0.78
Autoantibodies Targeting a Collecting Duct-Specific Water Channel in Tubulointerstitial Nephritis. J Am Soc Nephrol (2016) 0.76
Novel Findings into AIRE Genetics and Functioning: Clinical Implications. Front Pediatr (2016) 0.75
A multidisciplinary approach to management of autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED). BMJ Case Rep (2013) 0.75
Design and end points of clinical trials for patients with progressive prostate cancer and castrate levels of testosterone: recommendations of the Prostate Cancer Clinical Trials Working Group. J Clin Oncol (2008) 18.54
Open letter to prime minister David Cameron and health secretary Andrew Lansley. BMJ (2010) 4.52
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet (2003) 4.44
Randomized, double-blind, placebo-controlled phase III trial comparing docetaxel and prednisone with or without bevacizumab in men with metastatic castration-resistant prostate cancer: CALGB 90401. J Clin Oncol (2012) 3.73
Early-childhood membranous nephropathy due to cationic bovine serum albumin. N Engl J Med (2011) 3.17
Randomized controlled trial of early zoledronic acid in men with castration-sensitive prostate cancer and bone metastases: results of CALGB 90202 (alliance). J Clin Oncol (2014) 3.16
Antenatal membranous glomerulonephritis due to anti-neutral endopeptidase antibodies. N Engl J Med (2002) 3.15
Rituximab is an efficient and safe treatment in adults with steroid-dependent minimal change disease. Kidney Int (2013) 3.00
Tumor localization of 16beta-18F-fluoro-5alpha-dihydrotestosterone versus 18F-FDG in patients with progressive, metastatic prostate cancer. J Nucl Med (2004) 2.89
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet (2005) 2.64
Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults. Clin J Am Soc Nephrol (2013) 2.47
Incidence of nephrogenic systemic fibrosis at two large medical centers. Radiology (2008) 2.16
High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. J Am Soc Nephrol (2007) 2.06
Eligibility and outcomes reporting guidelines for clinical trials for patients in the state of a rising prostate-specific antigen: recommendations from the Prostate-Specific Antigen Working Group. J Clin Oncol (2004) 2.04
Fatal pulmonary fibrosis after rituximab administration. Pediatr Nephrol (2009) 1.89
Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. Hum Mol Genet (2009) 1.86
A novel approach to investigation of the pathogenesis of active minimal-change nephrotic syndrome using subtracted cDNA library screening. J Am Soc Nephrol (2002) 1.85
ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome. N Engl J Med (2013) 1.79
Reproductive risk factors and endometrial cancer: the European Prospective Investigation into Cancer and Nutrition. Int J Cancer (2010) 1.78
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest (2007) 1.78
A randomized controlled crossover trial with delayed-release cysteamine bitartrate in nephropathic cystinosis: effectiveness on white blood cell cystine levels and comparison of safety. Clin J Am Soc Nephrol (2012) 1.75
Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort. J Am Soc Nephrol (2005) 1.70
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet (2006) 1.69
11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations. J Clin Endocrinol Metab (2007) 1.59
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Am J Hum Genet (2007) 1.54
Overview and recommendations for medical screening and diagnostic evaluation for postdeployment lung disease in returning US warfighters. J Occup Environ Med (2012) 1.54
Phase II study of Lutetium-177-labeled anti-prostate-specific membrane antigen monoclonal antibody J591 for metastatic castration-resistant prostate cancer. Clin Cancer Res (2013) 1.51
Use of the Nerve Integrity Monitor during Thyroid Surgery Aids Identification of the External Branch of the Superior Laryngeal Nerve. Ann Surg Oncol (2014) 1.46
Incidence of growth hormone deficiency in pediatric-onset Langerhans cell histiocytosis: efficacy and safety of growth hormone treatment. J Clin Endocrinol Metab (2004) 1.46
French multicentric survey of outcome of pregnancy in women with pregestational diabetes. Diabetes Care (2003) 1.46
Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders. Hum Mol Genet (2009) 1.45
Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature. J Clin Invest (2006) 1.44
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome. Dev Med Child Neurol (2006) 1.41
Longitudinal evaluation and risk factors of lipodystrophy and associated metabolic changes in HIV-infected children. J Acquir Immune Defic Syndr (2005) 1.41
Obesity, inflammatory markers, and endometrial cancer risk: a prospective case-control study. Endocr Relat Cancer (2010) 1.35
A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes. J Clin Endocrinol Metab (2009) 1.32
Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. J Am Soc Nephrol (2010) 1.30
Anthropometric measures and epithelial ovarian cancer risk in the European Prospective Investigation into Cancer and Nutrition. Int J Cancer (2010) 1.28
Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. Nephrol Dial Transplant (2008) 1.27
Acute renal failure after treatment with non-steroidal anti-inflammatory drugs. Eur J Pediatr (2004) 1.26
Acute neurological involvement in diarrhea-associated hemolytic uremic syndrome. Clin J Am Soc Nephrol (2010) 1.23
Endocrine involvement in pediatric-onset Langerhans' cell histiocytosis: a population-based study. J Pediatr (2004) 1.23
Methylphenidate for fatigue in ambulatory men with prostate cancer. Cancer (2010) 1.23
PET-based radiation dosimetry in man of 18F-fluorodihydrotestosterone, a new radiotracer for imaging prostate cancer. J Nucl Med (2004) 1.22
Cigarette smoking and risk of histological subtypes of epithelial ovarian cancer in the EPIC cohort study. Int J Cancer (2011) 1.22
Unexpected efficacy of rituximab in multirelapsing minimal change nephrotic syndrome in the adult: first case report and pathophysiological considerations. Am J Kidney Dis (2007) 1.22
Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients. J Clin Endocrinol Metab (2010) 1.21
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. Hum Mutat (2003) 1.20
Inhibitory ITAM signaling by Fc alpha RI-FcR gamma chain controls multiple activating responses and prevents renal inflammation. J Immunol (2008) 1.20
Pendrin regulation in mouse kidney primarily is chloride-dependent. J Am Soc Nephrol (2006) 1.19
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. Kidney Int (2009) 1.19
Cyclophosphamide in steroid-dependent nephrotic syndrome. Pediatr Nephrol (2011) 1.18
Reluctance to undergo predictive testing: the case of Huntington disease. Am J Med Genet (1993) 1.17
Eighteen insulin-like growth factor pathway genes, circulating levels of IGF-I and its binding protein, and risk of prostate and breast cancer. Cancer Epidemiol Biomarkers Prev (2010) 1.17
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet (2009) 1.15
The paradoxical increase in cortisol secretion induced by dexamethasone in primary pigmented nodular adrenocortical disease involves a glucocorticoid receptor-mediated effect of dexamethasone on protein kinase A catalytic subunits. J Clin Endocrinol Metab (2009) 1.15
Rituximab efficiency in children with steroid-dependent nephrotic syndrome. Pediatr Nephrol (2010) 1.15
Rituximab in steroid-dependent idiopathic nephrotic syndrome in childhood--follow-up after CD19 recovery. Nephrol Dial Transplant (2011) 1.14
Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion. PLoS One (2008) 1.13
Noonan syndrome: relationships between genotype, growth, and growth factors. J Clin Endocrinol Metab (2005) 1.10
Resistin impairs endothelium-dependent dilation to bradykinin, but not acetylcholine, in the coronary circulation. Am J Physiol Heart Circ Physiol (2006) 1.10
Craniosynostosis: A rare complication of pycnodysostosis. Eur J Med Genet (2010) 1.10
Exposure to maternal diabetes induces salt-sensitive hypertension and impairs renal function in adult rat offspring. Diabetes (2008) 1.10
Ligand-controlled interaction of histone acetyltransferase binding to ORC-1 (HBO1) with the N-terminal transactivating domain of progesterone receptor induces steroid receptor coactivator 1-dependent coactivation of transcription. Mol Endocrinol (2006) 1.09
Benchmarks for cystic fibrosis carrier screening: a European consensus document. J Cyst Fibros (2010) 1.08
Leveraging remote behavioral health interventions to improve medical outcomes and reduce costs. Am J Manag Care (2015) 1.07
Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients. Clin Dysmorphol (2007) 1.07
Intracellular Na+ controls cell surface expression of Na,K-ATPase via a cAMP-independent PKA pathway in mammalian kidney collecting duct cells. Mol Biol Cell (2003) 1.07
Menopausal hormone therapy and risk of endometrial carcinoma among postmenopausal women in the European Prospective Investigation Into Cancer and Nutrition. Am J Epidemiol (2010) 1.06
Standing-based office work shows encouraging signs of attenuating post-prandial glycaemic excursion. Occup Environ Med (2013) 1.05
Membranoproliferative glomerulonephritis with C3NeF and genetic complement dysregulation. Pediatr Nephrol (2010) 1.05
Perrault syndrome: report of four new cases, review and exclusion of candidate genes. Am J Med Genet A (2008) 1.04
Adult height and pubertal growth in Turner syndrome after treatment with recombinant growth hormone. J Clin Endocrinol Metab (2005) 1.04
Hyperaldosteronemia and activation of the epithelial sodium channel are not required for sodium retention in puromycin-induced nephrosis. J Am Soc Nephrol (2005) 1.04
Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations. J Clin Endocrinol Metab (2007) 1.04
Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients. Eur J Med Genet (2010) 1.04
Augmenting advance care planning in poor prognosis cancer with a video decision aid: a preintervention-postintervention study. Cancer (2012) 1.04
Burn injury enhances bone formation in heterotopic ossification model. Ann Surg (2014) 1.03
Rapid androgen cycling as treatment for patients with prostate cancer. Clin Cancer Res (2006) 1.03
Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion. Nephrol Dial Transplant (2010) 1.03
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. Hum Mutat (2011) 1.03
Extended spectrum of MBD5 mutations in neurodevelopmental disorders. Eur J Hum Genet (2013) 1.03
Tumor necrosis factor (TNF)-α, soluble TNF receptors and endometrial cancer risk: the EPIC study. Int J Cancer (2011) 1.01
ETD in a traveling wave ion guide at tuned Z-spray ion source conditions allows for site-specific hydrogen/deuterium exchange measurements. J Am Soc Mass Spectrom (2011) 1.01
Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome. J Med Genet (2010) 1.00
Truncation of C-mip (Tc-mip), a new proximal signaling protein, induces c-maf Th2 transcription factor and cytoskeleton reorganization. J Exp Med (2003) 1.00
Fulminant viral myocarditis after rituximab therapy in pediatric nephrotic syndrome. Pediatr Nephrol (2013) 0.99
A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation. Epilepsia (2010) 0.99
A non-comparative randomized phase II study of 2 doses of ATN-224, a copper/zinc superoxide dismutase inhibitor, in patients with biochemically recurrent hormone-naïve prostate cancer. Urol Oncol (2011) 0.99
Self-esteem and social adjustment in young women with Turner syndrome--influence of pubertal management and sexuality: population-based cohort study. J Clin Endocrinol Metab (2006) 0.99
Prevalence of herpesviruses at onset of idiopathic nephrotic syndrome. Pediatr Nephrol (2014) 0.99
Late-onset thrombocytic microangiopathy caused by cblC disease: association with a factor H mutation. Am J Kidney Dis (2005) 0.99
Serum steroid profiling for congenital adrenal hyperplasia using liquid chromatography-tandem mass spectrometry. Clin Chim Acta (2009) 0.97