Published in J Intellect Disabil Res on March 01, 2008
X-linked disorders with cerebellar dysgenesis. Orphanet J Rare Dis (2011) 0.82
A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations. Eur J Hum Genet (2013) 0.82
Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability. Mol Syndromol (2011) 0.75
Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet (1998) 3.93
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet (1998) 3.86
Illegible handwriting in medical records. J R Soc Med (2002) 3.17
Oncogenic potential of EAG K(+) channels. EMBO J (1999) 2.74
Lack of efficacy of atenolol for the prevention of neurally mediated syncope in a highly symptomatic population: a prospective, double-blind, randomized and placebo-controlled study. J Am Coll Cardiol (2001) 2.36
[Pharmacoresistant temporal-lobe epilepsy. Exploration with foramen ovale electrodes and surgical outcomes]. Rev Neurol (2005) 2.23
A sustained activation of PI3K/NF-kappaB pathway is critical for the survival of chronic lymphocytic leukemia B cells. Leukemia (2004) 1.83
Advantages of real-time PCR assay for diagnosis and monitoring of canine leishmaniosis. Vet Parasitol (2006) 1.81
A type I interferon signature in monocytes is associated with poor response to interferon-beta in multiple sclerosis. Brain (2009) 1.69
Diagnosis of canine leishmaniasis by a polymerase chain reaction technique. Vet Rec (1999) 1.65
Implications of the FMR1 gene in menopause: study of 147 Spanish women. Menopause (2001) 1.58
Hepatic metastases from colorectal cancer: preoperative detection and assessment of resectability with helical CT. Radiology (2001) 1.52
In vitro phosphorylation of NS protein by the L protein of vesicular stomatitis virus. J Gen Virol (1985) 1.48
Reactive oxygen species (ROS) mediates the mitochondrial-dependent apoptosis induced by transforming growth factor (beta) in fetal hepatocytes. FASEB J (2001) 1.47
Schönlein-Henoch glomerulonephritis complicating diabetic glomerulosclerosis. Nephrol Dial Transplant (1994) 1.45
[Molecular analysis of the IT15 gene in 79 Spanish families with Huntington's disease: diagnostic confirmation and presymptomatic diagnosis]. Med Clin (Barc) (1997) 1.44
Chitosan nanoparticles: a new vehicle for the improvement of the delivery of drugs to the ocular surface. Application to cyclosporin A. Int J Pharm (2001) 1.42
Variable very-high-energy gamma-ray emission from the microquasar LS I +61 303. Science (2006) 1.40
[Determination of colonic transit time in healthy subjects in Mexico City. Prospective study]. Rev Gastroenterol Mex (2006) 1.39
[Ciliary ablation with diode laser. Long-term study]. Arch Soc Esp Oftalmol (2001) 1.39
[Comparative study of the eradication of Helicobacter pylori: ranitidine bismuth citrate versus omeprazole plus two antibiotics for seven days]. An Med Interna (2001) 1.38
A QTL on pig chromosome 4 affects fatty acid metabolism: evidence from an Iberian by Landrace intercross. J Anim Sci (2000) 1.32
Integrating Y-chromosome, mitochondrial, and autosomal data to analyze the origin of pig breeds. Mol Biol Evol (2009) 1.30
Indolent systemic mast cell disease in adults: immunophenotypic characterization of bone marrow mast cells and its diagnostic implications. Blood (1998) 1.28
Comparative in vitro activities of linezolid, quinupristin-dalfopristin, moxifloxacin, and trovafloxacin against erythromycin-susceptible and -resistant streptococci. Antimicrob Agents Chemother (2000) 1.28
Differential regulation of chordin expression domains in mutant zebrafish. Dev Biol (1997) 1.27
Design of biodegradable particles for protein delivery. J Control Release (2002) 1.26
Messenger RNA encoding the phosphoprotein (P) gene of human parainfluenza virus 3 is bicistronic. Virology (1986) 1.26
Cancer antigen 125 associated with multiple benign and malignant pathologies. Ann Surg Oncol (2003) 1.25
Morphometric analysis of Mexican and South American populations of the Anastrepha fraterculus complex (Diptera: Tephritidae) and recognition of a distinct Mexican morphotype. Bull Entomol Res (2004) 1.25
Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2. J Am Soc Nephrol (1996) 1.24
Bochdalek's hernia in adults. J Clin Gastroenterol (2001) 1.22
Quantitative trait locus mapping for meat quality traits in an Iberian x Landrace F2 pig population. J Anim Sci (2002) 1.18
Multi-responsiveness of single anterior pituitary cells to hypothalamic-releasing hormones: a cellular basis for paradoxical secretion. Proc Natl Acad Sci U S A (1997) 1.14
Murine pulmonary myocardium: developmental analysis of cardiac gene expression. Dev Dyn (1994) 1.13
Myocardial infarction in men aged 40 years or less: a prospective clinical-angiographic study. Clin Cardiol (1996) 1.13
Activities of new antimicrobial agents (trovafloxacin, moxifloxacin, sanfetrinem, and quinupristin-dalfopristin) against Bacteroides fragilis group: comparison with the activities of 14 other agents. Antimicrob Agents Chemother (1999) 1.12
Inhibitory neurons in the human epileptogenic temporal neocortex. An immunocytochemical study. Brain (1996) 1.12
A melanoma-associated germline mutation in exon 1beta inactivates p14ARF. Oncogene (2001) 1.11
X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation. BMC Genomics (2007) 1.11
Antibiotic resistance surveillance of Stenotrophomonas maltophilia, 1993-1999. J Antimicrob Chemother (2001) 1.10
Incidence of fragile X in 5,000 consecutive newborn males. Genet Test (2003) 1.09
QTL mapping for growth and carcass traits in an Iberian by Landrace pig intercross: additive, dominant and epistatic effects. Genet Res (2002) 1.08
Stealth PLA-PEG nanoparticles as protein carriers for nasal administration. Pharm Res (1998) 1.08
Incomplete renal tubular acidosis in 'primary' osteoporosis. Osteoporos Int (2000) 1.07
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. Neuromuscul Disord (2003) 1.06
[Sedation in digestive endoscopy. Results of a hospital survey in Catalonia (Spain)]. Gastroenterol Hepatol (2004) 1.04
Separation of active and inactive forms of the third component of human complement, C3, by fast protein liquid chromatography (FPLC). J Immunol Methods (1989) 1.04
Saccharomyces cerevisiae secretes 2 exo-beta-glucanases. FEBS Lett (1982) 1.04
Abdominal aortic aneurysms and autosomal dominant polycystic kidney disease. J Am Soc Nephrol (1996) 1.03
Studies on human parainfluenza virus 3: characterization of the structural proteins and in vitro synthesized proteins coded by mRNAs isolated from infected cells. Virology (1985) 1.03
PCR survey of vectorborne pathogens in dogs living in and around Barcelona, an area endemic for leishmaniasis. Vet Rec (2009) 1.03
Hyperinducible gene expression from a metallothionein promoter containing additional metal-responsive elements. Gene (1989) 1.03
Painful heel: MR imaging findings. Radiographics (2000) 1.02
Elastin mutation screening in a group of patients affected by vascular abnormalities. Pediatr Cardiol (2006) 1.02
Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins. Am J Hum Genet (1994) 1.02
Accumulation of PDGF B and cell-binding forms of PDGF A in the extracellular matrix. J Cell Biol (1993) 1.00
Distribution of capsular types and antimicrobial susceptibility of invasive isolates of Streptococcus pneumoniae in Colombian children. Pneumococcal Study Group in Colombia. Microb Drug Resist (1997) 1.00
Identification of carcass and meat quality quantitative trait loci in a Landrace pig population selected for growth and leanness. J Anim Sci (2005) 1.00
Multiple primary melanomas: do they look the same? Br J Dermatol (2013) 0.99
SPROUTY-2 and E-cadherin regulate reciprocally and dictate colon cancer cell tumourigenicity. Oncogene (2010) 0.99
A combination of tigecycline, colistin, and meropenem against multidrug-resistant Acinetobacter baumannii bacteremia in a renal transplant recipient: pharmacodynamic and microbiological aspects. Rev Esp Quimioter (2010) 0.99
A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2. Am J Hum Genet (1999) 0.99
Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation. Rapid communication. Kidney Int (1997) 0.98
Cytoskeletal interactions determine the electrophysiological properties of human EAG potassium channels. Pflugers Arch (2000) 0.98
Neuropathological findings in a patient with epilepsy and the Parry-Romberg syndrome. Epilepsia (2001) 0.97
Brain-derived neurotrophic factor modulates the severity of cognitive alterations induced by mutant huntingtin: involvement of phospholipaseCgamma activity and glutamate receptor expression. Neuroscience (2008) 0.97
Serotypes, virulence genes and intimin types of verotoxin-producing Escherichia coli and enteropathogenic E. coli isolated from healthy dairy goats in Spain. Vet Microbiol (2005) 0.97
Autosomal dominant polycystic kidney disease types 1 and 2: assessment of US sensitivity for diagnosis. Radiology (1999) 0.96
Rapid-infusion rituximab in lymphoma treatment. Ann Oncol (2005) 0.96
[Clinical, genetic and molecular studies on autosomal dominant polycystic kidney disease]. Med Clin (Barc) (1998) 0.96
Association between BDNF Val66Met polymorphism and age at onset in Huntington disease. Neurology (2005) 0.95
Ultrasonographic study of pancreatic cysts in autosomal dominant polycystic kidney disease. Clin Nephrol (1997) 0.95
Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions. Eur J Hum Genet (1999) 0.95
Isolation of genomic DNA from feathers. J Vet Diagn Invest (2001) 0.94
Magnesium sulphate injected subcutaneously suppresses autotomy in peripherally deafferented rats. Pain (1993) 0.93
The natural course of emesis after carboplatin treatment. Acta Oncol (1990) 0.93
Arginine residues of the globular regions of human C1q involved in the interaction with immunoglobulin G. J Biol Chem (1993) 0.93
Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene. J Med Genet (1996) 0.93
MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation. Genet Med (2007) 0.92
Early expression of glycine and GABA(A) receptors in developing spinal cord neurons. Effects on neurite outgrowth. Neuroscience (2001) 0.92
PLA-PEG particles as nasal protein carriers: the influence of the particle size. Int J Pharm (2005) 0.92
PLGA:poloxamer and PLGA:poloxamine blend nanostructures as carriers for nasal gene delivery. J Control Release (2006) 0.92
The Doñana ecological disaster: contamination of a world heritage estuarine marsh ecosystem with acidified pyrite mine waste. Sci Total Environ (1998) 0.92
Spontaneous osteonecrosis of the knee associated with tibial plateau and femoral condyle insufficiency stress fracture. Eur Radiol (2002) 0.92
Splenic marginal zone lymphoma: a distinctive type of low-grade B-cell lymphoma. A clinicopathological study of 13 cases. Am J Surg Pathol (1995) 0.92
A non-synonymous mutation in a conserved site of the MTTP gene is strongly associated with protein activity and fatty acid profile in pigs. Anim Genet (2009) 0.92
C3 binds covalently to the C gamma 3 domain of IgG immune aggregates during complement activation by the alternative pathway. Biochem J (1989) 0.91
Influence of the ACE gene polymorphism in the progression of renal failure in autosomal dominant polycystic kidney disease. Am J Kidney Dis (1999) 0.91
Squamous metaplasia of the rectum and sigmoid colon. Gastrointest Endosc (2001) 0.91
Bayesian analysis of quantitative trait loci for boar taint in a Landrace outbred population. J Anim Sci (2005) 0.91