Published in Rheumatol Int on June 18, 2003
WISP3, the gene responsible for the human skeletal disease progressive pseudorheumatoid dysplasia, is not essential for skeletal function in mice. Mol Cell Biol (2005) 1.27
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WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198. Bone Joint Res (2016) 0.75
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Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat Genet (2003) 4.34
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Human immunoglobulin M memory B cells controlling Streptococcus pneumoniae infections are generated in the spleen. J Exp Med (2003) 3.64
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet (2004) 2.94
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2010) 2.39
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet (2011) 2.16
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Identification of mutations in CUL7 in 3-M syndrome. Nat Genet (2005) 2.10
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Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet (2003) 1.94
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet (2012) 1.93
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet (2012) 1.82
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med (2010) 1.81
Hospital-based surveillance to estimate the burden of rotavirus gastroenteritis among European children younger than 5 years of age. Pediatrics (2009) 1.76
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TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. Am J Hum Genet (2008) 1.68
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. Am J Med Genet A (2004) 1.66
Nuclear factor I X deficiency causes brain malformation and severe skeletal defects. Mol Cell Biol (2007) 1.59
Polymorphisms and haplotypes of acid mammalian chitinase are associated with bronchial asthma. Am J Respir Crit Care Med (2005) 1.58
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Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res (2011) 1.53
Fibrodysplasia ossificans progressiva (FOP): watch the great toes! Eur J Pediatr (2010) 1.52
High-resolution MRI in giant cell arteritis: imaging of the wall of the superficial temporal artery. AJR Am J Roentgenol (2005) 1.51
Is serum procalcitonin a reliable diagnostic marker in children with acute respiratory tract infections? A retrospective analysis. Eur J Pediatr (2008) 1.46
In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapy. Hum Mutat (2013) 1.45
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet (2004) 1.45
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. Hum Mol Genet (2005) 1.43
Successful treatment of refractory chronic disseminated candidiasis after prolonged administration of caspofungin in a child with acute myeloid leukemia. Pediatr Blood Cancer (2007) 1.40
[Neuropsychiatric involvement in systemic lupus erythematosus. Part 2: diagnostic and therapy]. Med Klin (Munich) (2003) 1.40
Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism. Respiration (2017) 1.39
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet (2013) 1.39
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. Am J Hum Genet (2012) 1.36
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. Am J Hum Genet (2009) 1.35
Role of lipoteichoic acid in the phagocyte response to group B streptococcus. J Immunol (2005) 1.35
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet (2011) 1.34
Osteitis or osteomyelitis of the pubis? A diagnostic and therapeutic challenge: report of 9 cases and review of the literature. Acta Orthop Belg (2006) 1.33
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human. Nat Med (2007) 1.32
Diffusion-weighted MRI for differentiation of neuroblastoma and ganglioneuroblastoma/ganglioneuroma. Eur J Radiol (2010) 1.31
Association study suggests opposite effects of polymorphisms within IL8 on bronchial asthma and respiratory syncytial virus bronchiolitis. J Allergy Clin Immunol (2004) 1.29
Antibiotic resistance of urinary tract pathogens and rationale for empirical intravenous therapy. Pediatr Nephrol (2004) 1.28
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. Am J Med Genet C Semin Med Genet (2012) 1.23
Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis. Best Pract Res Clin Rheumatol (2008) 1.22
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. Am J Hum Genet (2009) 1.21
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. Am J Med Genet A (2006) 1.20
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. Am J Med Genet A (2010) 1.20
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. Am J Med Genet A (2010) 1.17
Whole-body MRI in the detection of bone marrow infiltration in patients with plasma cell neoplasms in comparison to the radiological skeletal survey. Eur Radiol (2006) 1.16
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. Am J Hum Genet (2008) 1.15
Acute otitis media--a structured approach. Dtsch Arztebl Int (2014) 1.14
Difficulties in diagnosis and treatment of 5alpha-reductase type 2 deficiency in a newborn with 46,XY DSD. Horm Res Paediatr (2010) 1.13
Identification of CANT1 mutations in Desbuquois dysplasia. Am J Hum Genet (2009) 1.12
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. Am J Hum Genet (2011) 1.12
Serotype distribution of invasive group B streptococcal isolates in infants: results from a nationwide active laboratory surveillance study over 2 years in Germany. Clin Infect Dis (2005) 1.11
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat (2010) 1.11
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. Am J Hum Genet (2013) 1.11
Pulmonary manifestations of wegener granulomatosis: CT findings in 57 patients and a review of the literature. Eur J Radiol (2005) 1.10
Filamin A mutation is one cause of FG syndrome. Am J Med Genet A (2007) 1.10
Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. J Bone Miner Res (2007) 1.09
3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient. Ital J Pediatr (2013) 1.08
Antibiotic resistance patterns among respiratory pathogens at a German university children's hospital over a period of 10 years. Eur J Pediatr (2005) 1.08
Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors. EMBO Mol Med (2011) 1.08
The dark sides of capillary morphogenesis gene 2. EMBO J (2011) 1.08
Incidence and clinical presentation of invasive neonatal group B streptococcal infections in Germany. Pediatrics (2006) 1.07
A serotype V clone is predominant among erythromycin-resistant Streptococcus agalactiae isolates in a southwestern region of Germany. J Clin Microbiol (2003) 1.06
Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat (2006) 1.06
FAM111A mutations result in hypoparathyroidism and impaired skeletal development. Am J Hum Genet (2013) 1.06
Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal. J Pediatr (2002) 1.06
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. Hum Mutat (2012) 1.06
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet J Rare Dis (2013) 1.04
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1. Am J Med Genet A (2004) 1.03
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). Am J Med Genet A (2011) 1.02
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder. Am J Med Genet A (2006) 1.02
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. Am J Hum Genet (2011) 1.02
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. J Med Genet (2011) 1.02
Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency. Blood (2008) 1.02
Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study. Mol Genet Metab (2005) 1.01
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases. Am J Med Genet A (2010) 1.01
The gene for juvenile hyaline fibromatosis maps to chromosome 4q21. Am J Hum Genet (2002) 1.01