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Age of Onset (0):
Recent article
Age of Onset
Abstract
We present the first analysis of age-at-onset in the NIMH LOAD sample that allows for both a multilocus trait model and genetic heterogeneity among the contributing sites, while at the same time accommodating age censoring, effects of known genetic covariates, and full pedigree and marker informatio...
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PMID: 21812099
PDF is available here.
PDF is available here.
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Abstract
The value of clinical items defining inflammatory back pain to identify patients with axial spondyloarthritis (SpA) in primary care is unclear.
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PMID: 21821621
PDF is available here.
PDF is available here.
Abstract
We aimed to assess how urine C-peptide creatinine ratio compared with serum C-peptide measurement during a mixed-meal tolerance test in individuals with late-onset, insulin-treated diabetes....
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PMID: 21843301
PDF is available here.
PDF is available here.
Abstract
We carried out linkage mapping, gene-expression analysis, exome sequencing, and candidate-gene sequencing in affected individuals from 20 families and/or individuals with simplex cases; we identified in five individuals one of two disease-causing mutations, c.346_348delCTC and c.344TG, in DNAJC5 enc...
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PMID: 21820099
PDF is available here.
PDF is available here.
Abstract
We describe a Japanese family in which two siblings have slow progression of a type of ARCA with psychomotor retardation. Using whole-exome sequencing combined with homozygosity mapping, we identified a homozygous missense mutation in SYT14, encoding synaptotagmin XIV (SYT14). Expression analysis of...
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PMID: 21835308
PDF is available here.
PDF is available here.
Abstract
Epistaxis is usually the first and most common symptom in hereditary hemorrhagic telangiectasia (HHT), which is known also as Rendu-Osler-Weber syndrome. The severity of HHT-associated epistaxis is highly variable and can affect the patient's quality of life. In the literature, the natural history of...
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PMID: 21819756
PDF is available here.
PDF is available here.
Audio, Transactions of the IRE Professional Group on (52 Suppl 5) 2011
Abstract
Lennox-Gastaut syndrome (LGS) is a rare epileptic encephalopathy with a peak age of onset of 3-5 years of age. Reported prevalence rates for LGS vary widely from 1-10% of all childhood epilepsies. Incidence rates are much lower. LGS is characterized by intractable, multiple, generalized seizure types...
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PMID: 21790560
PDF is available here.
PDF is available here.
Abstract
We analyzed transcriptional profiles from four independent Shh-medulloblastoma expression datasets (n = 66). Unsupervised clustering analyses demonstrated a clear distinction between infant and adult Shh-medulloblastomas, which was reliably replicated across datasets. Comparison of transcriptomes fr...
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PMID: 21681522
PDF is available here.
PDF is available here.
Abstract
Several studies have provided evidence for associations of polymorphisms located in and near dopamine-related genes and nicotine dependence and other smoking-related phenotypes, including pharmacogenetic interactions.
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PMID: 21806388
PDF is available here.
PDF is available here.
Abstract
Our study implicates disruption of VPS35 and retromer-mediated trans-membrane protein sorting, rescue, and recycling in the neurodegenerative process leading to PD....
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PMID: 21763482
PDF is available here.
PDF is available here.
Abstract
We investigated an Austrian family with 16 affected individuals by exome sequencing. We found a missense mutation, c.1858G>A (p.Asp620Asn), in the VPS35 gene in all seven affected family members who are alive. By screening additional PD cases, we saw the same variant cosegregating with the disease i...
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PMID: 21763483
PDF is available here.
PDF is available here.
Abstract
We analyzed TRPC6 in 33 Italian children with sporadic early-onset SRNS and three Italian families with adult-onset FSGS. Design, setting, participants, & measurements TRPC6 mutation analysis was performed through PCR and sequencing. The effects of the detected amino acid substitutions were analyzed...
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PMID: 21734084
PDF is available here.
PDF is available here.
Abstract
These results provide new and valuable insights regarding the onset, course, progression, and treatment of SD....
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PMID: 21859056
PDF is available here.
PDF is available here.
Abstract
We studied a large series of sporadic ALS patients admitted in a single referral centre over a 23-year period. UMN-D phenotype was compared with other ALS forms, including classic ALS, flail arm and progressive muscular atrophy. Seven hundred and thirty-four sporadic ALS patients were included of wh...
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PMID: 21702734
PDF is available here.
PDF is available here.
Abstract
We performed genetic analysis of a unique form of SCA (SCA36) that is accompanied by motor neuron involvement. Genome-wide linkage analysis and subsequent fine mapping for three unrelated Japanese families in a cohort of SCA cases, in whom molecular diagnosis had never been performed, mapped the dis...
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PMID: 21683323
PDF is available here.
PDF is available here.
Abstract
We postulate that optineurinopathy is closely linked with TDP-proteinopathy and speculate that this heterozygous E478G mutation would cause ALS by acting through a dominant-negative mechanism....
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PMID: 21644038
PDF is available here.
PDF is available here.
Abstract
Abstract
Abstract
Abstract
We identified a heterozygous SMAC/DIABLO mutation, c.377C>T (p.Ser126Leu, refers to p.Ser71Leu in the mature protein) in a six-generation Chinese kindred characterized by dominant progressive nonsyndromic hearing loss, designated as DFNA64. SMAC/DIABLO is highly expressed in human embryonic ears and...
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PMID: 21722859
PDF is available here.
PDF is available here.
Abstract
Millions of individuals are affected by early onset periodontal disease in Latin America, a continent that includes more than 20 countries. The decision-makers claim that the disease is not commonly encountered. In 2009, 280,919 authorized immigrants were registered in the United States versus 5,460,...
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PMID: 21823496
PDF is available here.
PDF is available here.
Abstract
We compared maturational and degenerative changes of the cellular organizations in rat and human cartilage specimens....
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PMID: 21630246
PDF is available here.
PDF is available here.
Abstract
Traditional asthma prevalence surveys were based on the International Study of Asthma and Allergies in Childhood (ISAAC) questionnaire, which focuses on children aged 6-7 and 13-14. However, asthma-like symptoms usually commence in preschool aged children, in whom it is difficult to...
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PMID: 21980826
PDF is available here.
PDF is available here.
Abstract
Pemphigus is a rare, organ-specific autoimmune disease. The epidemiology and clinical course vary between reports from different countries.
To evaluate clinical manifestations, investigation and clinical course of Thai patients with pemphigus.
Demograp...
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PMID: 21980831
PDF is available here.
PDF is available here.
Abstract
The histopathology of type 1 diabetes is defined by a decreased β-cell mass in association with insulitis, a characteristic lymphocytic infiltration limited to the islets of Langerhans and prominent in early stage disease in children. A cytotoxic T-cell mediated destruction of insul...
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PMID: 21606672
PDF is available here.
PDF is available here.
American Surgeon (137)4 2011
Abstract
The objective was to study the clinicopathologic characteristics of patients diagnosed of colorectal cancer (CRC) with clinical criteria for Lynch syndrome, in our region, in order to assess and improve the care of them and their families in the Genetic Counseling Unit of our hospital.
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PMID: 21601892
PDF is available here.
PDF is available here.
La Tunisie medicale (89)5 2011
Abstract
Vascular complications are common and serious events affecting patient and graft survivals. A perfect surgical technique and rigorous radiological monitoring may result in decreased incidence and severity of these complications....
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PMID: 21557183
PDF is available here.
PDF is available here.
La Tunisie medicale (89)5 2011
Abstract
Abstract
Abstract
We mapped four families with Kufs disease for whom there was good evidence of autosomal-recessive inheritance and found two peaks on chromosome 15. Three of the families were affected by Kufs type A disease and presented with progressive myoclonus epilepsy, and one was affected by type B (presenting...
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PMID: 21549341
PDF is available here.
PDF is available here.
Neurologist (17)3 2011
Abstract
To assess the clinical patterns of neurologic involvement and the frequencies and characteristics of different types of headaches in patients with Behçet disease.
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PMID: 21532383
PDF is available here.
PDF is available here.
Abstract
We interviewed a population of young patients who were arrived to our observation 10 years before, in order to: (1) determine if the first diagnosis was still adequate and (2) which percentage of these young patients developed chronic forms (more than 15 days/month) from episodic forms. One hundre...
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PMID: 21533744
PDF is available here.
PDF is available here.
Abstract
The identification of patients with inherited cancer susceptibility syndromes facilitates early diagnosis, prevention, and treatment. However, in many cases of suspected cancer susceptibility, the family history is unclear and genetic testing of common cancer susceptibility genes is...
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PMID: 21505135
PDF is available here.
PDF is available here.
Abstract
Rare copy number variants have been implicated in different neurodevelopmental disorders, with the same copy number variants often increasing risk of more than one of these phenotypes. In a discovery sample of 22 schizophrenia patients with an early onset of illness (10-15 years of age), the authors...
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PMID: 21324950
PDF is available here.
PDF is available here.
Abstract
Previous anatomic studies have established a reduction in hippocampal volume in schizophrenia, but few have investigated the progressive course of these changes and whether they are trait markers. In the present study, the authors examined hippocampal volumes in relation to age for patients with chil...
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PMID: 21245087
PDF is available here.
PDF is available here.
Abstract
We examined a total of 12 significant SNPs from these studies to determine if the results could be replicated in an independent large case-control sample. We genotyped these 12 SNPs as well the E2/E3/E4 APOE polymorphisms in up to 993 Caucasian Americans with LOAD and up to 976 age-matched healthy C...
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PMID: 21480501
PDF is available here.
PDF is available here.
Abstract
We obtained genome-wide significant results at MS4A4A (rs4938933; stages 1 and 2, meta-analysis P (P(M)) = 1.7 × 10(-9), joint analysis P (P(J)) = 1.7 × 10(-9); stages 1, 2 and 3, P(M) = 8.2 × 10(-12)), CD2AP (rs9349407; stages 1, 2 and 3, P(M) = 8.6 × 10(-9)), EPHA1 (rs11767557; stages 1, 2 and...
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PMID: 21460841
PDF is available here.
PDF is available here.
Abstract
The developmental taxonomic theory proposes that neurodevelopmental factors play a critical role in the etiology of early-onset conduct disorder, whereas adolescent-onset conduct disorder arises as a result of social mimicry of deviant peers. Recent studies have challenged this theory by demonstratin...
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PMID: 21454920
PDF is available here.
PDF is available here.
Abstract
Different variants on chromosome 9p21 may influence CHD age of onset in whites and blacks....
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PMID: 21375403
PDF is available here.
PDF is available here.
Abstract
The factors responsible for interindividual differences in speech-understanding ability among hearing-impaired listeners are not well understood. Although audibility has been found to account for some of this variability, other factors may play a role. This study sought to examine wh...
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PMID: 21350969
PDF is available here.
PDF is available here.
Abstract
Peanut allergy affects persons from various geographic regions where populations are exposed to different dietary habits and environmental pollens.
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PMID: 21093026
PDF is available here.
PDF is available here.
Abstract
We found strong evidence of association with two variants in the IL2/IL21 (rs6822844, genotypic P = 3·3 × 10(-4) ; rs2069778, genotypic P = 7·86 × 10(-4)) region.
The findings, although requiring replication, suggest that IL2/IL21 may play a key role in the pathogenesis of psoria...
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PMID: 21375519
PDF is available here.
PDF is available here.
Abstract
Samples of pediatric patients suspected of tuberculosis and cared for at Hospital Piñero during the 2004-2008 period were analyzed according to epidemiological and clinical criteria. The bacteriological contribution was evaluated to confirm the disease diagnosis. A descriptive retrospective analysis...
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PMID: 21491065
PDF is available here.
PDF is available here.
Abstract
Vitiligo is a depigmenting skin disorder with profound heterogenity in its aetio-pathophysiology, and is associated with inter-individual variation in progression of disease. Angiotensin converting enzyme (ACE) is a regulator of renin angiotensin system (RAS) that plays an important role in the physi...
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PMID: 21382792
PDF is available here.
PDF is available here.
Abstract
The aim of the study was to determine the occurrence and the risk factors of diabetes mellitus (DM) in Chinese patients with chronic pancreatitis (CP), with particular emphasis on those with endoscopic or surgical therapy for CP.
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PMID: 21404458
PDF is available here.
PDF is available here.
Journal of Hepatology (55)4 2011
Abstract
MTHFR C677Tgenotype distribution deviated from that expected from a population in Hardy-Weinberg equilibrium (C677T, χ(2)=12.14, p=0.0005). Patients with the MTHFR 1298C allele were younger at symptoms onset than those without this allele (median (IQR) age, 24.9 (14.0) years vs. 28.5 (12.0) years,...
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PMID: 21334398
PDF is available here.
PDF is available here.
Vnitrni lekarstvi (57)2 2011
Abstract
Abstract
In order to investigate the prognostic value of possible risk factors for Dupuytren's diathesis, clinical parameters on disease presentation in an operated group of patients were compared with self-reported recurrence after a minimum 2 years follow-up. In order of significance, the following factors...
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PMID: 21473442
PDF is available here.
PDF is available here.
Abstract
Can dysautonomic symptoms occurring within a year of developing motor symptoms distinguish Multiple system atrophy-Parkinsonian (MSA-P) from Parkinson's disease (PD)?
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PMID: 21751644
PDF is available here.
PDF is available here.
Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia (146)1 2011
Abstract
Childhood psoriasis is a well-known entity, which is different from adult onset psoriasis in many ways. Recent data from Germany, where a total of 33981 patients with psoriasis were identified from a database of about 1.3 million non-selected persons of a German statutory health insurance, revealed a...
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PMID: 21317855
PDF is available here.
PDF is available here.
Abstract
We investigated whether genetic variants of the IL-10 gene were associated with CD in a New Zealand population. Three single nucleotide polymorphisms (SNPs) in the promoter region of IL-10 (rs1800871, rs1800872, and rs1800896) and a flanking SNP, rs3024505, were genotyped in a well-characterized New...
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PMID: 21354456
PDF is available here.
PDF is available here.
Abstract
Lupus nephritis (LN) is one of the most serious complications of systemic lupus erythematosus (SLE) since it is the major predictor of poor prognosis. The purpose of this study was to examine the clinical and immunological characteristics associated with LN development during the course of SLE in Col...
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PMID: 21287296
PDF is available here.
PDF is available here.
Abstract
Disability varies in patients with major affective disorders [type I and II bipolar disorders (BPD) and recurrent unipolar major depressive disorder (UP-MDD)]. It may include reproductive functioning, which has rarely been studied systematically.
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PMID: 21219264
PDF is available here.
PDF is available here.
Public Health Reports (126)1 2011
Abstract
We determined the prevalence of first lifetime use of cigarettes during pregnancy or in the early postpartum period (incident smoking) and identified sociodemographic and health-related characteristics of incident smokers.
We used statistics based on data from a longitudinal study of...
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PMID: 21337931
PDF is available here.
PDF is available here.
Abstract
Our objective is to summarize diabetes data from Mexico and Jamaica and to discuss the opportunities that can result from an interethnic study. On one hand, the prevalence of diabetes in Jamaica is 17.9% in the 15+ age group. Jamaican researchers have built a cohort of families with early onset type...
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PMID: 21714438
PDF is available here.
PDF is available here.
Abstract
Abstract
Spinocerebellar ataxia (SCA) types 13 and 25 are two genetic entities among the autosomal dominant cerebellar ataxias, initially mapped in two French families to chromosomes 19q and 2p, respectively. The SCA13 locus was confirmed by the identification of a second kindred of Filipino ancestry. SCA13 p...
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PMID: 21827913
PDF is available here.
PDF is available here.
Abstract
Spinocerebellar ataxia type 20 (SCA20), first reported in 2004, is a slowly progressive dominantly inherited disorder so far reported in a single Anglo-Celtic family from Australia. It is characterized by dentate calcification from an early stage of the illness. Dysarthria without ataxia is the first...
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PMID: 21827916
PDF is available here.
PDF is available here.
Abstract
Sporadic adult-onset ataxia of unknown etiology (SAOA) denotes the non-hereditary degenerative adult-onset ataxia disorders that are distinct from multiple system atrophy (MSA). Rather than being a defined disease entity, SAOA has to be regarded as a group of disorders of unknown etiology that are de...
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PMID: 21827893
PDF is available here.
PDF is available here.
Abstract
"Dystonia" is the term used to describe abnormal movements consisting of sustained muscle contractions frequently causing twisting and repetitive movements or abnormal postures. Dystonia is classified partly by age at onset because this helps guide the diagnostic work-up and treatment decisions. This...
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PMID: 21496603
PDF is available here.
PDF is available here.