Published in J Clin Endocrinol Metab on July 10, 2007
Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4). Mol Cell Endocrinol (2013) 1.71
Causes of death and prognostic factors in multiple endocrine neoplasia type 1: a prospective study: comparison of 106 MEN1/Zollinger-Ellison syndrome patients with 1613 literature MEN1 patients with or without pancreatic endocrine tumors. Medicine (Baltimore) (2013) 1.00
Familial pituitary tumor syndromes. Nat Rev Endocrinol (2009) 0.90
Care for patients with multiple endocrine neoplasia type 1: the current evidence base. Fam Cancer (2011) 0.84
MEN1, MEN4, and Carney Complex: Pathology and Molecular Genetics. Neuroendocrinology (2015) 0.80
Should routine analysis of the MEN1 gene be performed in all patients with primary hyperparathyroidism under 40 years of age? World J Surg (2010) 0.79
Genetic screening for multiple endocrine neoplasia syndrome type 1 (MEN-1): when and how. F1000 Med Rep (2010) 0.78
Menin immunoreactivity in secretory granules of human pancreatic islet cells. Appl Immunohistochem Mol Morphol (2014) 0.77
Surgical management of pancreatico-duodenal tumors in multiple endocrine neoplasia syndrome type 1. Clinics (Sao Paulo) (2012) 0.77
Multiple Endocrine Neoplasia: Genetics and Clinical Management. Surg Oncol Clin N Am (2015) 0.77
Clinical and Genetic Analysis of Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism in Chinese. PLoS One (2016) 0.75
An unusual phenotype of MEN1 syndrome with a SI-NEN associated with a deletion of the MEN1 gene. Endocrinol Diabetes Metab Case Rep (2016) 0.75
Parathyroid gland: Hyperparathyroidism in MEN1 syndrome: time to operate? Nat Rev Endocrinol (2010) 0.75
Functioning glucagonoma associated with primary hyperparathyroidism: multiple endocrine neoplasia type 1 or incidental association? BMC Cancer (2012) 0.75
MEN1 redefined, a clinical comparison of mutation-positive and mutation-negative patients. BMC Med (2016) 0.75
Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol (2009) 3.60
Combination chemotherapy in advanced adrenocortical carcinoma. N Engl J Med (2012) 2.82
Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. Blood (2007) 2.32
Temozolomide as monotherapy is effective in treatment of advanced malignant neuroendocrine tumors. Clin Cancer Res (2007) 2.16
Prognostic factors and survival in 324 patients with pancreatic endocrine tumor treated at a single institution. Clin Cancer Res (2008) 1.98
Detection of human cytomegalovirus in medulloblastomas reveals a potential therapeutic target. J Clin Invest (2011) 1.87
Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment. Eur J Hum Genet (2003) 1.56
Bi-orientation of achiasmatic chromosomes in meiosis I oocytes contributes to aneuploidy in mice. Nat Genet (2007) 1.47
Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array. Hum Mutat (2008) 1.45
Predicting the risk of multiple endocrine neoplasia type 1 for patients with commonly occurring endocrine tumors. Eur J Endocrinol (2012) 1.43
Recognizing genes differentially regulated in vitro by the multiple endocrine neoplasia type 1 (MEN1) gene, using RNA interference and oligonucleotide microarrays. Surgery (2006) 1.40
[QF-PCR or karyotyping in amniocentesis most often not the woman's decision. Difficult to give basis for an informed choice]. Lakartidningen (2007) 1.38
Inactivation of BHD in sporadic renal tumors. Cancer Res (2003) 1.36
Effect of surgery on the outcome of midgut carcinoid disease with lymph node and liver metastases. World J Surg (2002) 1.35
Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2. Blood (2010) 1.28
FISH-mapping of a 100-kb terminal 22q13 deletion. Hum Genet (2002) 1.27
Subtelomeric rearrangements detected in patients with idiopathic mental retardation. Am J Med Genet (2002) 1.18
Molecular characterization of human telomerase reverse transcriptase-immortalized human fibroblasts by gene expression profiling: activation of the epiregulin gene. Cancer Res (2003) 1.18
Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity. Blood (2009) 1.16
Common biochemical markers of bone turnover predict future bone loss: a 5-year follow-up study. Clin Chim Acta (2005) 1.10
Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. Br J Haematol (2008) 1.09
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders. Am J Med Genet B Neuropsychiatr Genet (2010) 1.08
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. J Med Genet (2013) 1.08
Global expression profiling in atopic eczema reveals reciprocal expression of inflammatory and lipid genes. PLoS One (2008) 1.06
Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression. BMC Med Genomics (2010) 1.06
Surgery and radiofrequency ablation for treatment of liver metastases from midgut and foregut carcinoids and endocrine pancreatic tumors. World J Surg (2008) 1.05
Health-related quality of life after vertebral or hip fracture: a seven-year follow-up study. BMC Musculoskelet Disord (2009) 1.05
Elevated plasma chromogranin A is the first indication of recurrence in radically operated midgut carcinoid tumors. Neuroendocrinology (2009) 1.03
Adenosine A1 receptors regulate lipolysis and lipogenesis in mouse adipose tissue-interactions with insulin. Eur J Pharmacol (2008) 1.02
Adjuvant therapy in patients with adrenocortical carcinoma: a position of an international panel. J Clin Oncol (2010) 1.02
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations. Pediatr Blood Cancer (2010) 1.01
Prenatal diagnosis: molecular genetics and cytogenetics. Best Pract Res Clin Obstet Gynaecol (2002) 1.01
High expression of cyclin B1 predicts a favorable outcome in patients with follicular lymphoma. Blood (2004) 1.00
Pancreatic tumours as part of the MEN-1 syndrome. Best Pract Res Clin Gastroenterol (2005) 1.00
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. Am J Med Genet A (2004) 0.99
Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities. Pediatr Blood Cancer (2009) 0.98
Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome. Eur J Hum Genet (2005) 0.97
Preoperative tumor localization by means of venous sampling for fibroblast growth factor-23 in a patient with tumor-induced osteomalacia. Endocr Pract (2008) 0.97
Combined genetic and transcriptional profiling of acute myeloid leukemia with normal and complex karyotypes. Haematologica (2004) 0.96
High-dose treatment with a long-acting somatostatin analogue in patients with advanced midgut carcinoid tumours. Eur J Endocrinol (2004) 0.96
The proteasome inhibitor bortezomib disrupts tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) expression and natural killer (NK) cell killing of TRAIL receptor-positive multiple myeloma cells. Mol Immunol (2010) 0.95
Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D. Blood (2011) 0.95
Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden. Haematologica (2006) 0.95
Timing and extent of surgery in symptomatic and asymptomatic neuroendocrine tumors of the pancreas in MEN 1. Langenbecks Arch Surg (2002) 0.94
Radiofrequency tissue ablation using cooled tip for liver metastases of endocrine tumors. World J Surg (2002) 0.94
Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13. Am J Hum Genet (2003) 0.93
Proceedings of the IASLC International Workshop on Advances in Pulmonary Neuroendocrine Tumors 2007. J Thorac Oncol (2008) 0.92
Transfection of the multiple endocrine neoplasia type 1 gene to a human endocrine pancreatic tumor cell line inhibits cell growth and affects expression of JunD, delta-like protein 1/preadipocyte factor-1, proliferating cell nuclear antigen, and QM/Jif-1. J Clin Endocrinol Metab (2004) 0.92
Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2. Hum Mutat (2005) 0.92
Mantle cell lymphomas acquire increased expression of CCL4, CCL5 and 4-1BB-L implicated in cell survival. Int J Cancer (2006) 0.92
Mice heterozygous for both A1 and A(2A) adenosine receptor genes show similarities to mice given long-term caffeine. J Appl Physiol (1985) (2008) 0.92
Proteasome inhibition induces apoptosis in primary human natural killer cells and suppresses NKp46-mediated cytotoxicity. Haematologica (2009) 0.91
Women with low-energy fracture should be investigated for osteoporosis. Acta Orthop (2007) 0.91
Prognostic relevance of survivin in pancreatic endocrine tumors. World J Surg (2012) 0.91
A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size. Eur J Hum Genet (2004) 0.90
Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia. Acta Paediatr (2007) 0.90
Endocrine pancreatic tumors with glucagon hypersecretion: a retrospective study of 23 cases during 20 years. Med Oncol (2007) 0.90
Characterization of EGFR and ErbB2 expression in atopic dermatitis patients. Arch Dermatol Res (2012) 0.89
Octreoscan in patients with bronchial carcinoid tumours. Clin Endocrinol (Oxf) (2003) 0.89
Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability. Hum Mutat (2011) 0.89
Syntaxin-11 is expressed in primary human monocytes/macrophages and acts as a negative regulator of macrophage engulfment of apoptotic cells and IgG-opsonized target cells. Br J Haematol (2008) 0.88
Knowledge of osteoporosis in a Swedish municipality--a prospective study. Prev Med (2002) 0.88
Kostmann syndrome or infantile genetic agranulocytosis, part one: celebrating 50 years of clinical and basic research on severe congenital neutropenia. Acta Paediatr (2006) 0.88
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. J Med Genet (2013) 0.88
Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD). Am J Med Genet B Neuropsychiatr Genet (2007) 0.87
Homozygous deletions of CDKN2A are present in all dic(9;20)(p13·2;q11·2)-positive B-cell precursor acute lymphoblastic leukaemias and may be important for leukaemic transformation. Br J Haematol (2012) 0.87
Weight loss, body fat mass, and leptin in Parkinson's disease. Mov Disord (2009) 0.87
Array-CGH reveals hidden gene dose changes in children with acute lymphoblastic leukaemia and a normal or failed karyotype by G-banding. Br J Haematol (2008) 0.86
Heterotrimeric G protein-dependent WNT-5A signaling to ERK1/2 mediates distinct aspects of microglia proinflammatory transformation. J Neuroinflammation (2012) 0.86
The aromatase gene CYP19A1: several genetic and functional lines of evidence supporting a role in reading, speech and language. Behav Genet (2012) 0.86
An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities. Eur J Med Genet (2009) 0.86
A striving for independence: a qualitative study of women living with vertebral fracture. BMC Nurs (2010) 0.85
Co-expression of ghrelin and its receptor in pancreatic endocrine tumours. Clin Endocrinol (Oxf) (2007) 0.85
Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course. Am J Med Genet A (2014) 0.85
Filaggrin genotype determines functional and molecular alterations in skin of patients with atopic dermatitis and ichthyosis vulgaris. PLoS One (2011) 0.85
First report on metastasizing small bowel carcinoids in first-degree relatives in three generations. Neuroendocrinology (2010) 0.83
Increased expression of Ki-67 in mantle cell lymphoma is associated with de-regulation of several cell cycle regulatory components, as identified by global gene expression analysis. Haematologica (2004) 0.82
Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia. Br J Haematol (2012) 0.81
Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia. Br J Haematol (2007) 0.81
Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida. Eur J Med Genet (2007) 0.81
Spectral karyotyping and interphase FISH reveal abnormalities not detected by conventional G-banding. Implications for treatment stratification of childhood acute lymphoblastic leukaemia: detailed analysis of 70 cases. Eur J Haematol (2002) 0.81
Neurogenin 3 and neurogenic differentiation 1 are retained in the cytoplasm of multiple endocrine neoplasia type 1 islet and pancreatic endocrine tumor cells. Pancreas (2009) 0.80
Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3. Br J Haematol (2013) 0.80
Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3). Am J Med Genet A (2005) 0.79
Identification of Achaete-scute complex-like 1 (ASCL1) target genes and evaluation of DKK1 and TPH1 expression in pancreatic endocrine tumours. BMC Cancer (2009) 0.79
Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb. Eur J Med Genet (2005) 0.79
Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis. Hum Genet (2002) 0.78
Screening for copy number alterations in loci associated with autism spectrum disorders by two-color multiplex ligation-dependent probe amplification. Am J Med Genet B Neuropsychiatr Genet (2010) 0.78
In situ RNA-RNA hybridisation of phospholipase C beta 3 shows lack of expression in neuroendocrine tumours. Anticancer Res (2003) 0.78
Molecular and cytogenetic analysis in stillbirth: results from 481 consecutive cases. Fetal Diagn Ther (2014) 0.78
Gastrointestinal stromal tumors express the orexigen ghrelin. Endocr Relat Cancer (2006) 0.78
Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis. J Dermatol Sci (2011) 0.78
Is calcaneal stiffness more sensitive to physical activity than forearm bone mineral density? A population-based study of persons aged 20-79 years. Scand J Public Health (2004) 0.78
Difference between Swedish and Japanese men in the association between AR CAG repeats and prostate cancer suggesting a susceptibility-modifying locus overlapping the androgen receptor gene. Int J Mol Med (2003) 0.78
Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis. PLoS One (2012) 0.78
Streptozocin and 5-Fluorouracil for the Treatment of Pancreatic Neuroendocrine Tumors: Efficacy, Prognostic Factors and Toxicity. Neuroendocrinology (2015) 0.78
Simian AIDS-related lymphoma growth in severe combined immunodeficiency mice is independent of karyotypic abnormalities or Bcl-6 mutations. AIDS Res Hum Retroviruses (2002) 0.78