Published in Am J Hum Genet on July 01, 1999
Cherubism: best clinical practice. Orphanet J Rare Dis (2012) 1.42
The diagnosis and management of giant cell lesions of the jaws. Ann Maxillofac Surg (2012) 1.06
Cherubism: a case report. Int J Clin Pediatr Dent (2009) 1.04
A novel mutation in the SH3BP2 gene causes cherubism: case report. BMC Med Genet (2006) 0.97
The role of SH3BP2 in the pathophysiology of cherubism. Orphanet J Rare Dis (2012) 0.95
Cherubism: case report with review of literature. J Maxillofac Oral Surg (2011) 0.94
Radiographic, CT and MRI features of cherubism. Pediatr Radiol (2006) 0.90
Cherubism associated with neurofibromatosis type 1, and multiple osteolytic lesions of both femurs: a previously undescribed association of findings. Skeletal Radiol (2005) 0.90
Neurofibromatosis presenting with a cherubism phenotype. Eur J Pediatr (2006) 0.86
[Clinical and molecular genetic observations on families with cherubism over three generations]. Mund Kiefer Gesichtschir (2003) 0.85
Autoinflammatory bone diseases. Rheum Dis Clin North Am (2013) 0.84
Cherubism: Report of a case. Contemp Clin Dent (2013) 0.84
Clinical and surgical management of an aggressive cherubism treated with autogenous bone graft and calcitonin. ISRN Dent (2010) 0.83
Cherubism combined with epilepsy, mental retardation and gingival fibromatosis (Ramon syndrome): a case report. Head Neck Pathol (2009) 0.81
A possible case of cherubism in a 17th-century Korean mummy. PLoS One (2014) 0.81
Bone diseases of the jaws. Int J Dent (2010) 0.81
Variable expressivity familial cherubism: woman transmitting cherubism without suffering the disease. Head Face Med (2013) 0.77
Gene hunting in autoinflammation. Clin Transl Allergy (2013) 0.77
The promise of human induced pluripotent stem cells in dental research. Stem Cells Int (2012) 0.77
Cherubism in sub-saharan Africa: a first case-report in a child. Rare Tumors (2015) 0.75
Non-hereditary cherubism. J Oral Maxillofac Pathol (2014) 0.75
Update from the 4th Edition of the World Health Organization Classification of Head and Neck Tumours: Odontogenic and Maxillofacial Bone Tumors. Head Neck Pathol (2017) 0.75
Fibroblast growth factor receptor 3 is a negative regulator of bone growth. Cell (1996) 7.70
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell (1994) 5.96
Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat Genet (1994) 5.19
Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. Nat Genet (1996) 4.54
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature (1994) 4.04
A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat Genet (1996) 3.24
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet (1995) 2.93
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet (1995) 2.51
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet (1995) 2.30
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet (1997) 2.22
Gingival fibromatosis combined with cherubism. Oral Surg Oral Med Oral Pathol (1967) 2.18
Noonan-like/multiple giant cell lesion syndrome. Am J Med Genet (1991) 1.63
The multinucleate cells in giant cell granulomas of the jaw are osteoclasts. Cancer (1988) 1.34
Cherubism: diagnosis, treatment, and comparison with central giant cell granulomas and giant cell tumors. Oral Surg Oral Med Oral Pathol (1992) 1.30
Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism. Hum Mol Genet (1995) 1.27
Cherubism: a study of twenty cases from one family. Oral Surg Oral Med Oral Pathol (1979) 1.23
Cherubism--an initial unilateral presentation. Br J Oral Surg (1978) 1.20
Cherubism. Int J Oral Surg (1985) 1.14
Study of the cell biology and biochemistry of cherubism. J Clin Pathol (1998) 1.09
Cherubism, gingival fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile rheumatoid arthritis. Am J Med Genet (1986) 1.06
The Noonan syndrome/cherubism association. Oral Surg Oral Med Oral Pathol (1989) 1.02
Cherubism: a study of three generations. Med Oral (2001) 0.97
Giant cell lesions complicating fibro-osseous conditions of the jaws. Int J Oral Maxillofac Surg (1993) 0.95
Cherubism and its orbital manifestations. Ophthal Plast Reconstr Surg (1989) 0.92
Cherubism. J Otolaryngol (1992) 0.91
Multiple central giant cell lesions with a Noonan-like phenotype. Oral Surg Oral Med Oral Pathol (1993) 0.90
Cherubism: diagnostic imaging and review of the literature in Japan. Oral Surg Oral Med Oral Pathol Oral Radiol Endod (1996) 0.89
Unilateral mandibular cherubism: brief review and case report. Br J Oral Maxillofac Surg (1984) 0.87
Cherubism: report of an aggressive case and review of the literature. J Oral Maxillofac Surg (1993) 0.85
Central giant cell granuloma or cherubism. Report of a case. Oral Surg Oral Med Oral Pathol (1981) 0.82
Cherubism. Findings in three cases in the same family. J Craniomaxillofac Surg (1989) 0.82
Cherubism. Ann Plast Surg (1985) 0.81
Intraoral giant cell lesions: the peripheral and central forms of these entities. Pract Periodontics Aesthet Dent (1995) 0.80
Fibrous dysplasia and cherubism as an hereditary familial disease. Follow-up of four generations. J Craniomaxillofac Surg (1989) 0.79
Cherubism: presentation of a case. Angle Orthod (1997) 0.78
The sequence of the human genome. Science (2001) 101.55
The Catalogue of Somatic Mutations in Cancer (COSMIC). Curr Protoc Hum Genet (2008) 16.09
The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website. Br J Cancer (2004) 12.35
A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature (1998) 10.35
A critical role for Dnmt1 and DNA methylation in T cell development, function, and survival. Immunity (2001) 9.45
Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med (2011) 7.89
Evolution and transmission of stable CTL escape mutations in HIV infection. Nature (2001) 6.57
Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst (1999) 6.48
Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations. J Natl Cancer Inst (1998) 6.06
Neuroligin 1: a splice site-specific ligand for beta-neurexins. Cell (1995) 5.97
COSMIC 2005. Br J Cancer (2006) 5.07
Akt promotes survival of cardiomyocytes in vitro and protects against ischemia-reperfusion injury in mouse heart. Circulation (2000) 4.96
Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nat Genet (1995) 4.86
Structures, alternative splicing, and neurexin binding of multiple neuroligins. J Biol Chem (1996) 4.31
Methylation of the 5' CpG island of the p16/CDKN2 tumor suppressor gene in normal and transformed human tissues correlates with gene silencing. Cancer Res (1995) 4.28
A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer (2002) 4.18
Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene. Nat Genet (1997) 4.16
Substantial differences in specificity of HIV-specific cytotoxic T cells in acute and chronic HIV infection. J Exp Med (2001) 3.44
Identification of the familial cylindromatosis tumour-suppressor gene. Nat Genet (2000) 3.42
Cloning of a lymphocyte homing receptor reveals a lectin domain. Cell (1989) 3.33
Cancer and genomics. Nature (2001) 3.15
A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO. J Med Genet (2004) 3.10
Crucial role of the interleukin 1 receptor family member T1/ST2 in T helper cell type 2-mediated lung mucosal immune responses. J Exp Med (1999) 2.92
BRCA2 mutations in primary breast and ovarian cancers. Nat Genet (1996) 2.91
Characterization of the human cysteinyl leukotriene 2 receptor. J Biol Chem (2000) 2.89
Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes. Oncogene (2007) 2.83
A general method for the detection of large CAG repeat expansions by fluorescent PCR. J Med Genet (1996) 2.83
Prevention of corticosteroid osteoporosis. A comparison of calcium, calcitriol, and calcitonin. N Engl J Med (1993) 2.80
Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13. Am J Hum Genet (1997) 2.77
The CD28-related molecule ICOS is required for effective T cell-dependent immune responses. Immunity (2000) 2.70
A C-terminal motif found in the beta2-adrenergic receptor, P2Y1 receptor and cystic fibrosis transmembrane conductance regulator determines binding to the Na+/H+ exchanger regulatory factor family of PDZ proteins. Proc Natl Acad Sci U S A (1998) 2.68
Brachyury, a crucial regulator of notochordal development, is a novel biomarker for chordomas. J Pathol (2006) 2.65
Mammary and extramammary Paget's disease. J Clin Pathol (2000) 2.62
A human gene that shows identity with the gene encoding the angiotensin receptor is located on chromosome 11. Gene (1993) 2.59
Soybean nodulin genes: Analysis of cDNA clones reveals several major tissue-specific sequences in nitrogen-fixing root nodules. Proc Natl Acad Sci U S A (1983) 2.48
The human olfactory receptor repertoire. Genome Biol (2001) 2.41
The long term results of endoscopic surveillance of premalignant gastric lesions. Gut (2002) 2.35
Effect of a media-led education campaign on breast and cervical cancer screening among Vietnamese-American women. Prev Med (1999) 2.28
Localization to Xq27 of a susceptibility gene for testicular germ-cell tumours. Nat Genet (2000) 2.26
The genetics of breast cancer susceptibility. Annu Rev Genet (1998) 2.21
Regulation of the antioxidant response element by protein kinase C-mediated phosphorylation of NF-E2-related factor 2. Proc Natl Acad Sci U S A (2000) 2.20
Diagnosis of hepatitis C virus (HCV) infection using an immunodominant chimeric polyprotein to capture circulating antibodies: reevaluation of the role of HCV in liver disease. Proc Natl Acad Sci U S A (1992) 2.18
Autologous chondrocyte implantation versus matrix-induced autologous chondrocyte implantation for osteochondral defects of the knee: a prospective, randomised study. J Bone Joint Surg Br (2005) 2.13
Characterization of apelin, the ligand for the APJ receptor. J Neurochem (2000) 2.11
Platelet-derived growth factor receptor association with Na(+)/H(+) exchanger regulatory factor potentiates receptor activity. Mol Cell Biol (2000) 2.11
Sensitivity of patients with painful temporomandibular disorders to experimentally evoked pain: evidence for altered temporal summation of pain. Pain (1998) 2.10
Effect of vitamin D receptor gene alleles on bone loss in early rheumatoid arthritis. J Rheumatol (1998) 2.05
Bacteria isolated after unsuccessful endodontic treatment in a North American population. Oral Surg Oral Med Oral Pathol Oral Radiol Endod (2001) 2.04
CC chemokine receptor (CCR)3/eotaxin is followed by CCR4/monocyte-derived chemokine in mediating pulmonary T helper lymphocyte type 2 recruitment after serial antigen challenge in vivo. J Exp Med (2000) 2.02
Influence of psychological factors on risk of temporomandibular disorders. J Dent Res (2007) 2.02
Discovery of a receptor related to the galanin receptors. FEBS Lett (1999) 2.01
Ligand-, cell-, and estrogen receptor subtype (alpha/beta)-dependent activation at GC-rich (Sp1) promoter elements. J Biol Chem (2000) 2.00
Osteoclastic activation is the principal mechanism leading to secondary osteoporosis in rheumatoid arthritis. J Rheumatol (1998) 1.97
A polymorphic stop codon in BRCA2. Nat Genet (1996) 1.95
Symptomatic fracture incidence in elderly men and women: the Dubbo Osteoporosis Epidemiology Study (DOES). Osteoporos Int (1994) 1.95
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour. J Med Genet (2005) 1.94
Relation of TNF-related apoptosis-inducing ligand (TRAIL) receptor and FLICE-inhibitory protein expression to TRAIL-induced apoptosis of melanoma. Cancer Res (1999) 1.88
Drosophila Lissencephaly-1 functions with Bic-D and dynein in oocyte determination and nuclear positioning. Nat Cell Biol (1999) 1.84
Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour. J Med Genet (2006) 1.83
Misidentified cell. Nature (1989) 1.81
AutoCSA, an algorithm for high throughput DNA sequence variant detection in cancer genomes. Bioinformatics (2007) 1.80
Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus. Nat Genet (1996) 1.79
Sensitivity of patients with painful temporomandibular disorders to experimentally evoked pain. Pain (1995) 1.76
Low frequency of somatic mutations in the LKB1/Peutz-Jeghers syndrome gene in sporadic breast cancer. Cancer Res (1998) 1.73
ATM and breast cancer susceptibility. Oncogene (2006) 1.68
Identification and cloning of three novel human G protein-coupled receptor genes GPR52, PsiGPR53 and GPR55: GPR55 is extensively expressed in human brain. Brain Res Mol Brain Res (1999) 1.68
Review of influenza A virus in swine worldwide: a call for increased surveillance and research. Zoonoses Public Health (2013) 1.67
Primary structure and biological activity of a novel human neurotrophic factor. Neuron (1990) 1.65
Somatic mutations of KIT in familial testicular germ cell tumours. Br J Cancer (2004) 1.64
The pathology of familial breast cancer: histological features of cancers in families not attributable to mutations in BRCA1 or BRCA2. Clin Cancer Res (2000) 1.62
The BRC repeats are conserved in mammalian BRCA2 proteins. Hum Mol Genet (1997) 1.62
The prevalence of glaucoma in Bangladesh: a population based survey in Dhaka division. Br J Ophthalmol (2004) 1.61
Duodenal atresia: associated anomalies, prenatal diagnosis and outcome. Pediatr Surg Int (2009) 1.61
The structure of the ligand-binding domain of neurexin Ibeta: regulation of LNS domain function by alternative splicing. Cell (1999) 1.61
Atypical ductal hyperplasia of the breast: clonal proliferation with loss of heterozygosity on chromosomes 16q and 17p. J Clin Pathol (1995) 1.61
Fat and carbohydrate balances during adaptation to a high-fat. Am J Clin Nutr (2000) 1.60
Discovery and mapping of ten novel G protein-coupled receptor genes. Gene (2001) 1.60
Characterization of a human homologue of the murine peripheral lymph node homing receptor. J Cell Biol (1989) 1.59
Elevated arterial base deficit in trauma patients: a marker of impaired oxygen utilization. J Am Coll Surg (1998) 1.58
Comparison of improved precipitation methods for quantification of high-density lipoprotein cholesterol. Clin Chem (1985) 1.58
Genetic influences on bone density: physiological correlates of vitamin D receptor gene alleles in premenopausal women. J Clin Endocrinol Metab (1995) 1.57
Molecular cloning, sequencing, and expression of functional bovine herpesvirus 1 glycoprotein gIV in transfected bovine cells. J Virol (1990) 1.57
Characterization of nerve growth factor-induced mechanical and thermal hypersensitivity in rats. Eur J Pain (2012) 1.54
Progressive loss of bone in the femoral neck in elderly people: longitudinal findings from the Dubbo osteoporosis epidemiology study. BMJ (1994) 1.51
G protein-coupled receptor kinase 6A phosphorylates the Na(+)/H(+) exchanger regulatory factor via a PDZ domain-mediated interaction. J Biol Chem (1999) 1.51
Discovery of three novel G-protein-coupled receptor genes. Genomics (1998) 1.50
Genetic alterations in 'normal' luminal and myoepithelial cells of the breast. J Pathol (1999) 1.50
A cluster of four novel human G protein-coupled receptor genes occurring in close proximity to CD22 gene on chromosome 19q13.1. Biochem Biophys Res Commun (1997) 1.50
Light-directed synthesis of high-density oligonucleotide arrays using semiconductor photoresists. Proc Natl Acad Sci U S A (1996) 1.48
The Jarisch-Herxheimer reaction and fetal monitoring changes in pregnant women treated for syphilis. Obstet Gynecol (1998) 1.47
Reduction of intracanal bacteria using nickel-titanium rotary instrumentation and various medications. J Endod (2000) 1.45