Published in Eur J Med Genet on February 09, 2006
A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction. Hum Genet (2006) 0.99
Fork stalling and template switching as a mechanism for polyalanine tract expansion affecting the DYC mutant of HOXD13, a new murine model of synpolydactyly. Genetics (2009) 0.80
A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance. J Hum Genet (2011) 0.80
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet (2006) 6.15
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
Gene expression analysis using oligonucleotide arrays produced by maskless photolithography. Genome Res (2002) 4.69
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet (2004) 4.09
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69
SAMHD1 restricts HIV-1 reverse transcription in quiescent CD4(+) T-cells. Retrovirology (2012) 2.92
Elements of morphology: standard terminology for the ear. Am J Med Genet A (2009) 2.64
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. Am J Hum Genet (2009) 1.71
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. Am J Hum Genet (2011) 1.71
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet (2012) 1.70
Alpha2-chimaerin, cyclin-dependent Kinase 5/p35, and its target collapsin response mediator protein-2 are essential components in semaphorin 3A-induced growth-cone collapse. J Neurosci (2004) 1.66
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. Am J Hum Genet (2013) 1.53
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet (2004) 1.45
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. Am J Hum Genet (2010) 1.38
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. Eur J Hum Genet (2007) 1.36
CFH, VEGF and HTRA1 promoter genotype may influence the response to intravitreal ranibizumab therapy for neovascular age-related macular degeneration. Br J Ophthalmol (2011) 1.33
Alpha2-chimaerin interacts with EphA4 and regulates EphA4-dependent growth cone collapse. Proc Natl Acad Sci U S A (2007) 1.32
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte. Am J Hum Genet (2011) 1.26
A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis. Am J Med Genet A (2008) 1.25
Characterization of RhoA-binding kinase ROKalpha implication of the pleckstrin homology domain in ROKalpha function using region-specific antibodies. J Biol Chem (2002) 1.22
Transcriptional activation of the Rhodobacter sphaeroides cytochrome c(2) gene P2 promoter by the response regulator PrrA. J Bacteriol (2002) 1.19
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. Am J Hum Genet (2009) 1.16
The natural evolution of neglected lesser tuberosity fractures in skeletally immature patients. J Shoulder Elbow Surg (2012) 1.13
IQGAP1 promotes neurite outgrowth in a phosphorylation-dependent manner. J Biol Chem (2005) 1.13
Cantú syndrome: report of nine new cases and expansion of the clinical phenotype. Am J Med Genet A (2011) 1.11
Nicolaides-Baraitser syndrome: Delineation of the phenotype. Am J Med Genet A (2009) 1.11
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proc Natl Acad Sci U S A (2013) 1.08
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma. Am J Hum Genet (2011) 1.08
Atypical progeroid syndrome due to heterozygous missense LMNA mutations. J Clin Endocrinol Metab (2009) 1.08
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). Invest Ophthalmol Vis Sci (2012) 1.07
Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. Invest Ophthalmol Vis Sci (2013) 1.06
Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome. Pediatr Res (2008) 1.04
Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan. Arch Ophthalmol (2010) 1.04
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
Neuropathic arthropathy of the shoulder and elbow associated with syringomyelia: a report of 3 cases. Acta Orthop Belg (2007) 0.98
Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy. Am J Med Genet (2002) 0.97
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis. Hum Mutat (2006) 0.95
Ultrastructural changes in the retinopathy, globe enlarged (rge) chick cornea. J Struct Biol (2009) 0.94
Regulation of IRSp53-dependent filopodial dynamics by antagonism between 14-3-3 binding and SH3-mediated localization. Mol Cell Biol (2009) 0.94
Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani--Lenz-like non-syndromic oligosyndactyly. J Med Genet (2010) 0.93
Excited Delirium Syndrome (ExDS): defining based on a review of the literature. J Emerg Med (2011) 0.93
Phenotypic characterization of overexpression or deletion of the Escherichia coli crcA, cspE and crcB genes. Microbiology (2003) 0.93
Outgrowth of neurites from NIE-115 neuroblastoma cells is prevented on repulsive substrates through the action of PAK. Mol Cell Biol (2005) 0.92
Analysis of Fcgamma receptor haplotypes in rheumatoid arthritis: FCGR3A remains a major susceptibility gene at this locus, with an additional contribution from FCGR3B. Arthritis Res Ther (2006) 0.91
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. J Med Genet (2013) 0.91
Joining the fingers: a HOXD13 Story. Dev Dyn (2014) 0.91
Collapsin response mediator proteins (CRMPs) are a new class of microtubule-associated protein (MAP) that selectively interacts with assembled microtubules via a taxol-sensitive binding interaction. J Biol Chem (2011) 0.90
Capacity-related interfacility patient transports: patients affected, wait times involved and associated morbidity. CJEM (2006) 0.90
p80 ROKalpha binding protein is a novel splice variant of CRMP-1 which associates with CRMP-2 and modulates RhoA-induced neuronal morphology. FEBS Lett (2002) 0.90
Limb skeletal malformations - what the HOX is going on? Eur J Med Genet (2011) 0.90
Mutation in the guanine nucleotide-binding protein beta-3 causes retinal degeneration and embryonic mortality in chickens. Invest Ophthalmol Vis Sci (2006) 0.89
Epigenetic stability, adaptability, and reversibility in human embryonic stem cells. Proc Natl Acad Sci U S A (2012) 0.89
Mutational analysis of MIR184 in sporadic keratoconus and myopia. Invest Ophthalmol Vis Sci (2013) 0.89
A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features. J Clin Endocrinol Metab (2005) 0.88
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat (2015) 0.87
Collagen organization in the chicken cornea and structural alterations in the retinopathy, globe enlarged (rge) phenotype--an X-ray diffraction study. J Struct Biol (2007) 0.87
Glenosphere disengagement: a potentially serious default in reverse shoulder surgery. Clin Orthop Relat Res (2008) 0.87
Deep venous thrombosis of the axillary and subclavian vein after osteosynthesis of a midshaft clavicular fracture: a case report. Am J Sports Med (2010) 0.87
Resection arthroplasty of the shoulder as a salvage procedure for deep shoulder infection: does the use of a cement spacer improve outcome? J Shoulder Elbow Surg (2011) 0.86
Neurological presentation of Griscelli syndrome: obstructive hydrocephalus without haematological abnormalities or organomegaly. Brain Dev (2006) 0.86
Spondylolisthesis in twins: multifactorial etiology: a case report and review of the literature. Spine (Phila Pa 1976) (2011) 0.86
Elevated interferon-alpha in fetal blood in the prenatal diagnosis of Aicardi-Goutières syndrome. Fetal Diagn Ther (2006) 0.86
Calcifying tendinitis of the rotator cuff: functional outcome after arthroscopic treatment. Acta Orthop Belg (2006) 0.86
A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype. Hum Mol Genet (2008) 0.85
An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning. Hum Mol Genet (2012) 0.85
Comparison of 3 algorithms for Basal insulin in transitioning from intravenous to subcutaneous insulin in stable patients after cardiothoracic surgery. Endocr Pract (2011) 0.84
Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome. Cornea (2014) 0.84
2q31.1 microdeletion syndrome: redefining the associated clinical phenotype. J Med Genet (2010) 0.84
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. Orphanet J Rare Dis (2014) 0.84
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. Hum Mol Genet (2011) 0.84
Posttraumatic pseudarthrosis of the clavicle in an 8-year-old girl. J Pediatr Orthop B (2010) 0.84
Alpha1,3-galactosyltransferase knockout does not alter the properties of porcine extracellular matrix bioscaffolds. Acta Biomater (2011) 0.84
Variation in the effects of three different breakfast meals on subjective satiety and subsequent intake of energy at lunch and evening meal. Eur J Nutr (2012) 0.83
Co-proxamol and suicide: Availability of co-proxamol has been successfully reduced in Doncaster. BMJ (2003) 0.83
The influence of lamellar orientation on corneal material behavior: biomechanical and structural changes in an avian corneal disorder. Invest Ophthalmol Vis Sci (2011) 0.83
Delayed migration of a metal suture anchor into the glenohumeral joint. Acta Orthop Belg (2010) 0.83
Proteomic profiling of the retinal dysplasia and degeneration chick retina. Mol Vis (2010) 0.83
Chronic anterior shoulder dislocation: aspects of current management and potential complications. Acta Orthop Belg (2012) 0.82
Vascular function and glucose variability improve transiently following initiation of continuous subcutaneous insulin infusion in children with type 1 diabetes. Pediatr Diabetes (2013) 0.82
A randomized, controlled dose-ranging study of risedronate in children with moderate and severe osteogenesis imperfecta. J Bone Miner Res (2010) 0.82
Kantaputra mesomelic dysplasia: a second reported family. Am J Med Genet A (2004) 0.82
A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1. Mol Vis (2013) 0.82
A 3D-CT scan study of the humeral and glenoid planes in 150 normal shoulders. Surg Radiol Anat (2011) 0.80
Treatment of irreparable rotator cuff tears by latissimus dorsi muscle transfer. Acta Orthop Belg (2005) 0.80
Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity. Invest Ophthalmol Vis Sci (2011) 0.80
Return to work after arthroscopic subacromial decompression. Acta Orthop Belg (2011) 0.80
Identification of autosomal recessive disease loci using out-bred nuclear families. Hum Mutat (2011) 0.79
Outcome of index finger pollicisation for the congenital absent or severely hypoplastic thumb. Acta Orthop Belg (2009) 0.79
Central osteosclerosis with trichothiodystrophy. Pediatr Radiol (2004) 0.79
Production of CGMP-Grade Lentiviral Vectors. Bioprocess Int (2012) 0.79
Intramedullary spinal cord metastases in breast cancer are associated with improved longer-term systemic control. Future Oncol (2010) 0.79
Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy. Am J Med Genet A (2008) 0.79
Arthroscopy of the sternoclavicular joint: an anatomic evaluation of structures at risk. Surg Radiol Anat (2013) 0.78
"Bath salts" intoxication: a new recreational drug that presents with a familiar toxidrome. CJEM (2014) 0.78
Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity. Am J Med Genet A (2007) 0.78
Varicose veins at the spinoglenoidal notch: an unusual cause of suprascapular nerve compression. J Shoulder Elbow Surg (2011) 0.78
Analysis of KIT, SCF, and initial screening of SLUG in patients with piebaldism. J Invest Dermatol (2005) 0.78