Published in Ital J Pediatr on March 21, 2013
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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet (2004) 2.94
Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genet (2011) 2.46
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
Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease. N Engl J Med (2016) 2.15
Identification of mutations in CUL7 in 3-M syndrome. Nat Genet (2005) 2.10
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
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med (2010) 1.81
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat (2004) 1.76
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. PLoS One (2008) 1.76
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
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization. Arch Neurol (2011) 1.61
Polymorphisms and haplotypes of acid mammalian chitinase are associated with bronchial asthma. Am J Respir Crit Care Med (2005) 1.58
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
Is serum procalcitonin a reliable diagnostic marker in children with acute respiratory tract infections? A retrospective analysis. Eur J Pediatr (2008) 1.46
R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy. Eur J Med Genet (2008) 1.45
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
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
Patients with antinuclear antibody-positive juvenile idiopathic arthritis constitute a homogeneous subgroup irrespective of the course of joint disease. Arthritis Rheum (2005) 1.37
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
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet (2011) 1.34
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human. Nat Med (2007) 1.32
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
Autoimmune stigmata in Turner syndrome: when lacks an X chromosome. J Autoimmun (2009) 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
Difficulties in diagnosis and treatment of 5alpha-reductase type 2 deficiency in a newborn with 46,XY DSD. Horm Res Paediatr (2010) 1.13
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. Am J Hum Genet (2011) 1.12
Identification of CANT1 mutations in Desbuquois dysplasia. Am J Hum Genet (2009) 1.12
Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy. Rheumatol Int (2003) 1.12
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
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
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
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
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. Am J Hum Genet (2012) 1.04
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1. Am J Med Genet A (2004) 1.03
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder. Am J Med Genet A (2006) 1.02
Menstrual pattern and menstrual disorders among adolescents: an update of the Italian data. Ital J Pediatr (2012) 1.02
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
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
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
The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet (2011) 1.01
The prevalence of growth hormone deficiency and celiac disease in short children. Clin Med Res (2006) 1.00
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. J Med Genet (2010) 0.99
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. Hum Mutat (2014) 0.99
Update on age at menarche in Italy: toward the leveling off of the secular trend. J Adolesc Health (2009) 0.99
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Nat Genet (2008) 0.98
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. Am J Med Genet A (2003) 0.98
Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. Am J Hum Genet (2009) 0.98
Development and validation of a preliminary definition of minimal disease activity in patients with juvenile idiopathic arthritis. Arthritis Rheum (2008) 0.98
Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability. Am J Med Genet A (2003) 0.97
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. PLoS Genet (2005) 0.97
Emergence of antitumor cytolytic T cells is associated with maintenance of hematologic remission in children with acute myeloid leukemia. Blood (2006) 0.97
Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications. Am J Med Genet A (2013) 0.97
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients. Skeletal Radiol (2009) 0.97
TRPV4-associated skeletal dysplasias. Am J Med Genet C Semin Med Genet (2012) 0.96
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis. Hum Mutat (2002) 0.95
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. Am J Med Genet A (2005) 0.95
Prospective evaluation of aortic dimensions in Turner syndrome: a 2-dimensional echocardiographic study. J Am Soc Echocardiogr (2007) 0.95
Early atherosclerosis in childhood type 1 diabetes: role of raised systolic blood pressure in the absence of dyslipidaemia. Eur J Pediatr (2007) 0.94
The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type. J Med Genet (2007) 0.94
Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes. Am J Med Genet A (2011) 0.94
Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia. Prenat Diagn (2008) 0.94
Neurological complications of varicella in childhood: case series and a systematic review of the literature. Vaccine (2012) 0.94
Axial spondylometaphyseal dysplasia: additional reports. Am J Med Genet A (2011) 0.93
Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis. Eur J Hum Genet (2009) 0.93
Mucolipidosis II presenting as severe neonatal hyperparathyroidism. Eur J Pediatr (2004) 0.93
Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. Am J Hum Genet (2006) 0.92
Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signalling. Matrix Biol (2010) 0.92
Use of linezolid in infants and children: a retrospective multicentre study of the Italian Society for Paediatric Infectious Diseases. J Antimicrob Chemother (2011) 0.92
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation. Eur J Pediatr (2003) 0.91
Isolated colon ischemia with norovirus infection in preterm babies: a case series. J Med Case Rep (2013) 0.90
COL2A1-related skeletal dysplasias with predominant metaphyseal involvement. Am J Med Genet A (2007) 0.90
Schinzel-Giedion syndrome with sacrococcygeal teratoma. J Pediatr Hematol Oncol (2003) 0.90
CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome. Proc Natl Acad Sci U S A (2013) 0.88
Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene. Am J Med Genet A (2004) 0.87
Growth hormone deficiency and coeliac disease: an unusual association? Clin Endocrinol (Oxf) (2005) 0.87