Published in Pediatr Radiol on August 05, 2011
Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology. Am J Med Genet (1993) 1.60
Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications. Am J Hum Genet (2008) 1.18
Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients. Hum Mol Genet (2010) 1.10
Spondylo-epi-metaphyseal dysplasia. Best Pract Res Clin Rheumatol (2008) 0.95
Further delineation of spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, with emphasis on diagnostic features. Am J Med Genet (1993) 0.95
Spondylo-meta-epiphyseal dysplasia, short limb, abnormal calcification type. Clin Dysmorphol (1996) 0.92
The time of onset of abnormal calcification in spondylometaepiphyseal dysplasia, short limb-abnormal calcification type. Pediatr Radiol (2008) 0.91
Spondylo-meta-epiphyseal dysplasia, short limbs, abnormal calcification type: a new case with severe neurological involvement. Pediatr Radiol (2001) 0.90
Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type. Clin Dysmorphol (2009) 0.87
Sudden death in spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type. Clin Dysmorphol (2009) 0.85
Lamin a truncation in Hutchinson-Gilford progeria. Science (2003) 8.01
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med (2008) 3.85
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet (2004) 2.94
Fibrodysplasia ossificans progressiva. Best Pract Res Clin Rheumatol (2008) 2.64
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet (2005) 2.64
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet (2011) 2.61
Ellis-van Creveld syndrome. Orphanet J Rare Dis (2007) 2.38
The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations. J Am Acad Dermatol (2008) 2.29
Identification of mutations in CUL7 in 3-M syndrome. Nat Genet (2005) 2.10
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet (2009) 2.03
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet (2011) 2.02
Determination of renal stone composition with dual-energy CT: in vivo analysis and comparison with x-ray diffraction. Radiology (2010) 1.99
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet (2004) 1.94
Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nat Med (2005) 1.93
Elements of morphology: standard terminology for the nose and philtrum. Am J Med Genet A (2009) 1.93
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Hum Mutat (2007) 1.93
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat Genet (2011) 1.84
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet A (2003) 1.79
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet (2008) 1.78
Pleural effusion: characterization with CT attenuation values and CT appearance. AJR Am J Roentgenol (2009) 1.73
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet (2011) 1.70
Diagnostic value of chest radiographs in bedridden patients suspected of having pneumonia. Am J Med (2010) 1.69
Irreversible electroporation ablation: is all the damage nonthermal? Radiology (2012) 1.68
Renal infarction in the ED: 10-year experience and review of the literature. Am J Emerg Med (2011) 1.68
A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. Am J Hum Genet (2005) 1.67
Colonic perforation at CT colonography: assessment of risk in a multicenter large cohort. Radiology (2006) 1.67
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. Eur J Hum Genet (2006) 1.63
Association of human metapneumovirus with radiologically diagnosed community-acquired alveolar pneumonia in young children. J Pediatr (2010) 1.61
The mutation spectrum in RECQL4 diseases. Eur J Hum Genet (2008) 1.61
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A (2015) 1.60
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet (2008) 1.58
Efficacy and safety of growth hormone treatment in children with hypochondroplasia: comparison with an historical cohort. Horm Res Paediatr (2014) 1.57
Preauthorization of CT and MRI examinations: assessment of a managed care preauthorization program based on the ACR Appropriateness Criteria and the Royal College of Radiology guidelines. J Am Coll Radiol (2006) 1.56
The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy. Blood (2013) 1.55
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
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet (2005) 1.55
Ciliary disorder of the skeleton. Am J Med Genet C Semin Med Genet (2012) 1.55
Prolonged remission of severe Cushing syndrome without adrenalectomy in an infant with McCune-Albright syndrome. J Pediatr (2008) 1.46
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet (2004) 1.45
Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. Am J Med Genet (2002) 1.45
Quality initiatives: Quality improvement in radiology: basic principles and tools required to achieve success. Radiographics (2011) 1.45
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am J Hum Genet (2005) 1.43
Thoracic manifestations of Behçet disease at CT. Radiographics (2004) 1.43
Should chromosome breakage studies be performed in patients with VACTERL association? Am J Med Genet A (2005) 1.42
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat (2011) 1.42
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatr Res (2005) 1.38
Imperforate anus, malrotation, and Hirschsprung's disease: a rare and important association. J Pediatr Surg (2006) 1.38
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am J Hum Genet (2012) 1.38
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. Am J Hum Genet (2012) 1.36
Clinical applications of physical 3D models derived from MDCT data and created by rapid prototyping. AJR Am J Roentgenol (2011) 1.36
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet (2011) 1.34
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Am J Hum Genet (2013) 1.33
CT colonography in 546 patients with incomplete colonoscopy. Radiology (2007) 1.32
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Am J Hum Genet (2002) 1.32
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. Am J Med Genet A (2010) 1.30
Cantú syndrome is caused by mutations in ABCC9. Am J Hum Genet (2012) 1.28
Added value of SPECT/CT for correlation of MIBG scintigraphy and diagnostic CT in neuroblastoma and pheochromocytoma. AJR Am J Roentgenol (2008) 1.28
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet (2010) 1.27
Impact of CT-guided drainage in the treatment of diverticular abscesses: size matters. AJR Am J Roentgenol (2006) 1.26
C5orf42 is the major gene responsible for OFD syndrome type VI. Hum Genet (2013) 1.24
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
Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond. Mov Disord (2011) 1.22
Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. J Am Soc Nephrol (2002) 1.21
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. Circulation (2009) 1.21
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. Eur J Hum Genet (2006) 1.20
Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing. Mol Genet Metab (2011) 1.20
H1N1 influenza: initial chest radiographic findings in helping predict patient outcome. Radiology (2010) 1.20
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Eur J Hum Genet (2008) 1.19
Schimke immunoosseous dysplasia: suggestions of genetic diversity. Hum Mutat (2007) 1.19
Peer review in diagnostic radiology: current state and a vision for the future. Radiographics (2009) 1.18
Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications. Am J Hum Genet (2008) 1.18
Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet A (2005) 1.17
Functional disomy of the Xq28 chromosome region. Eur J Hum Genet (2005) 1.15
Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations. Am J Med Genet A (2004) 1.14
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. J Med Genet (2009) 1.14
Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. Am J Hum Genet (2004) 1.13
Radiographic features of large cystic lesions of the jaws in children. Pediatr Radiol (2002) 1.12
Fetal fibrochondrogenesis at 26 weeks' gestation. Prenat Diagn (2002) 1.12
Identification of CANT1 mutations in Desbuquois dysplasia. Am J Hum Genet (2009) 1.12
Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome. Eur J Hum Genet (2008) 1.12
Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome. Eur J Hum Genet (2006) 1.11
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients. Mol Genet Metab (2006) 1.11
Irreversible electroporation: treatment effect is susceptible to local environment and tissue properties. Radiology (2013) 1.11
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. Nat Genet (2007) 1.11
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. Am J Hum Genet (2012) 1.10
Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme. Hum Mutat (2008) 1.10