Home Jurnale medicale The American Journal of Human Genetics
Jurnale medicale
The American Journal of Human Genetics
A
Aesthetic Surgery Journal Allergy Am J Psychiatry current issue American Journal of Clinical Nutrition current issue American Journal of Geriatric Psych - Featured Articles - Featured Articles American Journal of Hematology American Journal of Obstetrics & Gynecology American Journal of Ophthalmology American Journal of Physical Medicine & Rehabilitation - Current Issue Anaesthesia & Intensive Care Medicine Anesthesiology - Current Issue ANZ Journal of Surgery Archives of Physical Medicine and Rehabilitation Arteriosclerosis, Thrombosis, and Vascular Biology current issue
B
BioMed Central - Latest Articles Blood current issue BMC Ear, Nose and Throat Disorders - Latest Articles BMC Gastroenterology - Latest Articles BMC Geriatrics - Latest Articles BMC Ophthalmology - Latest Articles BMC Psychiatry - Latest Articles British Journal of Anaesthesia - current issue British Journal of Dermatology British Journal of Ophthalmology current issue
C
Cancer Research current issue Cardiovascular Research - current issue CDC HIV/AIDS Prevention Circulation current issue Circulation Research current issue Circulation: Arrhythmia and Electrophysiology current issue Circulation: Cardiovascular Genetics current issue Circulation: Cardiovascular Imaging current issue Circulation: Cardiovascular Interventions current issue Circulation: Cardiovascular Quality and Outcomes current issue Circulation: Heart Failure current issue Cleveland Clinic Journal of Medicine current issue Clinical Diabetes Journal current issue Clinical Endocrinology Clinical Microbiology and Infection Critical Care - Latest Articles Current Issue
D
Diabetes Care Journal current issue Diabetes Journal current issue Diabetes Spectrum Journal current issue
E
Emergency Medicine Journal current issue European Heart Journal - current issue European Journal of Endocrinology current issue European Journal of Internal Medicine European Journal of Nuclear Medicine and Molecular Imaging (Online First™) European Journal of Nuclear Medicine and Molecular Imaging (Online First™) European Journal of Pediatrics (Online First™) Evidence-Based Medicine current issue
G
Gut current issue
H
Haematologica current issue Heart current issue Hypertension current issue
I
International Journal of Dental Hygiene International Journal of Emergency Medicine International Journal of Nephrology and Renovascular Disease International Journal of Paediatric Dentistry International Journal of Rheumatic Diseases
J
JCR: Journal of Clinical Rheumatology - Most Popular Articles Journal of Clinical Oncology Current Issue Journal of Clinical Pathology current issue Journal of Esthetic and Restorative Dentistry Journal of Family Practice Journal of Gastroenterology and Hepatology Journal of Hematology & Oncology - Latest Articles Journal of Human Kinetics Journal of Intensive Care Medicine current issue Journal of Neurology (Online First™) Journal of Neurology, Neurosurgery & Psychiatry current issue Journal of Neuroscience current issue Journal of Occupational Medicine and Toxicology - Latest Articles Journal of Orthopaedic Surgery and Research - Latest Articles Journal of Orthopaedics and Traumatology (Online First™) Journal of Pediatric Surgery Journal of Prosthetic Dentistry Journal of Radiology Case Reports Journal of the American Academy of Dermatology Journal of the American College of Cardiology Current Issue Journal of the American Society of Nephrology current issue
L
Latest BMJ blogs Latest Issue of Journal of Dentistry for Children Latest Issue of Journal of Rehabilitation Medicine Legal Medicine
M
Massachusetts Medical Society: New England Journal of Medicine: Table of Contents Mayo Clinic Proceedings current issue Medscape Medical News Headlines
N
NEO : Last 10 articles Nephrology Nephrology Dialysis Transplantation - current issue Nuclear Medicine and Biology
O
Obstetrics & Gynecology - Featured Articles - Editors' Picks Occupational and Environmental Medicine current issue Occupational Medicine - current issue
P
Pediatric Surgery International (Online First™) Pediatrics & Neonatology PEDIATRICS current issue Plastic and Reconstructive Surgery - Current Issue PLOS Medicine: New Articles
R
Radiographics current issue Radiology current issue Rheumatology - current issue
S
ScienceDirect Publication: European Journal of Radiology ScienceDirect Publication: International Journal of Gynecology & Obstetrics Stroke current issue
T
The American Journal of Human Genetics The American Journal of Surgery The British Journal of Diabetes & Vascular Disease current issue The Clinical Respiratory Journal The European Journal of Orthodontics - current issue The Journal of Bone & Joint Surgery current issue The Journal of Clinical Endocrinology & Metabolism Current Issue The Journal of Pathology The Journal of Urology The Lancet The Lancet Infectious Diseases The Lancet Neurology The Lancet Oncology The Oncologist current issue
[
[no title] [no title] [no title] [no title] [no title] [no title] [no title] [no title] [no title] [no title] [no title]

Jurnale medicale The American Journal of Human Genetics

4 Februarie 2015 22:00
The human chromosome 22q11.2 region is susceptible to rearrangements during meiosis leading to velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome (22q11DS) characterized by conotruncal heart defects (CTDs) and other congenital anomalies. The majority of individuals have a 3 Mb deletion whose prox mai mult
The American Journal of Human Genetics
4 Februarie 2015 22:00
Primary coenzyme Q10 (CoQ10) deficiencies are rare, clinically heterogeneous disorders caused by mutations in several genes encoding proteins involved in CoQ10 biosynthesis. CoQ10 is an essential component of the electron transport chain (ETC), where it shuttles electrons from complex I or II to com mai mult
The American Journal of Human Genetics
4 Februarie 2015 22:00
Have you submitted a DNA sample to a direct-to-consumer (DTC) company in the hopes of learning more about your ancestry? If so, chances are that their calculations were based on your mtDNA haplogroup. Indeed, the combination of a high level of polymorphisms and low level of recombinations has render mai mult
The American Journal of Human Genetics
4 Februarie 2015 22:00
Bacterial colonization of the lungs of cystic fibrosis (CF) patients is an important stage in their disease and is associated with reductions in lung function. Therefore, many patients are monitored for evidence of this colonization via sputum samples so that they can be given appropriate treatment. mai mult
The American Journal of Human Genetics
28 Ianuarie 2015 22:00
Genetic risk prediction has several potential applications in medical research and clinical practice and could be used, for example, to stratify a heterogeneous population of patients by their predicted genetic risk. However, for polygenic traits, such as psychiatric disorders, the accuracy of risk mai mult
The American Journal of Human Genetics
28 Ianuarie 2015 22:00
PARK2, a gene associated with Parkinson disease, is a tumor suppressor in human malignancies. Here, we show that c.823C>T (p.Arg275Trp), a germline mutation in PARK2, is present in a family with eight cases of lung cancer. The resulting amino acid change, p.Arg275Trp, is located in the highly conser mai mult
The American Journal of Human Genetics
28 Ianuarie 2015 22:00
In recent years, a number of large-scale genome-wide association studies have been published for human traits adjusted for other correlated traits with a genetic basis. In most studies, the motivation for such an adjustment is to discover genetic variants associated with the primary outcome independ mai mult
The American Journal of Human Genetics
28 Ianuarie 2015 22:00
UBE2L3 is associated with increased susceptibility to numerous autoimmune diseases, but the underlying mechanism is unexplained. By using data from a genome-wide association study of systemic lupus erythematosus (SLE), we observed a single risk haplotype spanning UBE2L3, consistently aligned across mai mult
The American Journal of Human Genetics
28 Ianuarie 2015 22:00
Variation in cystic fibrosis (CF) phenotypes, including lung disease severity, age of onset of persistent Pseudomonas aeruginosa (P. aeruginosa) lung infection, and presence of meconium ileus (MI), has been partially explained by genome-wide association studies (GWASs). It is not expected that GWA mai mult
The American Journal of Human Genetics
28 Ianuarie 2015 22:00
Interpreting the genomic and phenotypic consequences of copy-number variation (CNV) is essential to understanding the etiology of genetic disorders. Whereas deletion CNVs lead obviously to haploinsufficiency, duplications might cause disease through triplosensitivity, gene disruption, or gene fusion mai mult
The American Journal of Human Genetics
7 Ianuarie 2015 22:00
CODAS syndrome is a multi-system developmental disorder characterized by cerebral, ocular, dental, auricular, and skeletal anomalies. Using whole-exome and Sanger sequencing, we identified four LONP1 mutations inherited as homozygous or compound-heterozygous combinations among ten individuals with C mai mult
The American Journal of Human Genetics
7 Ianuarie 2015 22:00
Atopic dermatitis and psoriasis are the two most common immune-mediated inflammatory disorders affecting the skin. Genome-wide studies demonstrate a high degree of genetic overlap, but these diseases have mutually exclusive clinical phenotypes and opposing immune mechanisms. Despite their prevalence mai mult
The American Journal of Human Genetics
7 Ianuarie 2015 22:00
Carrier status for autosomal-recessive disorders is generally considered clinically irrelevant until it comes time to estimate reproductive risks. For sickle cell disease, this isn??t completely true; the red blood cells of carriers of the sickle cell mutation can change morphology under extreme con mai mult
The American Journal of Human Genetics
7 Ianuarie 2015 22:00
(The American Journal of Human Genetics 94, 649??661; May 1, 2014) mai mult
The American Journal of Human Genetics
7 Ianuarie 2015 22:00
Owing to its unique demographic history, the United States is often viewed as being something of a melting pot. The influx of, and admixture between, multiple populations over the past several hundred years has created a population whose diversity continues to increase. In this study, Bryc et al. l mai mult
The American Journal of Human Genetics
7 Ianuarie 2015 22:00
Type 1 narcolepsy, a disorder caused by a lack of hypocretin (orexin), is so strongly associated with human leukocyte antigen (HLA) class II HLA-DQA1??01:02-DQB1??06:02 (DQ0602) that very few non-DQ0602 cases have been reported. A known triggering factor for narcolepsy is pandemic 2009 influenza mai mult
The American Journal of Human Genetics
14 Ianuarie 2015 22:00
We studied a group of individuals with elevated urinary excretion of 3-methylglutaconic acid, neutropenia that can develop into leukemia, a neurological phenotype ranging from nonprogressive intellectual disability to a prenatal encephalopathy with progressive brain atrophy, movement disorder, catar mai mult
The American Journal of Human Genetics
14 Ianuarie 2015 22:00
3-methylglutaconic aciduria (3-MGA-uria) is a nonspecific finding associated with mitochondrial dysfunction, including defects of oxidative phosphorylation. 3-MGA-uria is classified into five groups, of which one, type IV, is genetically heterogeneous. Here we report five children with a form of typ mai mult
The American Journal of Human Genetics
21 Ianuarie 2015 22:00
The association between a geographical region and an mtDNA haplogroup(s) has provided the basis for using mtDNA haplogroups to infer an individual??s place of origin and genetic ancestry. Although it is well known that ancestry inferences using mtDNA haplogroups and those using genome-wide markers mai mult
The American Journal of Human Genetics
21 Ianuarie 2015 22:00
Singleton-Merten syndrome (SMS) is an autosomal-dominant multi-system disorder characterized by dental dysplasia, aortic calcification, skeletal abnormalities, glaucoma, psoriasis, and other conditions. Despite an apparent autosomal-dominant pattern of inheritance, the genetic background of SMS and mai mult
The American Journal of Human Genetics
21 Ianuarie 2015 22:00
Mutations in genes encoding the ERCC3 (XPB), ERCC2 (XPD), and GTF2H5 (p8 or TTD-A) subunits of the transcription and DNA-repair factor TFIIH lead to three autosomal-recessive disorders: xeroderma pigmentosum (XP), XP associated with Cockayne syndrome (XP/CS), and trichothiodystrophy (TTD). Although mai mult
The American Journal of Human Genetics
21 Ianuarie 2015 22:00
Singleton-Merten syndrome (SMS) is an infrequently described autosomal-dominant disorder characterized by early and extreme aortic and valvular calcification, dental anomalies (early-onset periodontitis and root resorption), osteopenia, and acro-osteolysis. To determine the molecular etiology of thi mai mult
The American Journal of Human Genetics
21 Ianuarie 2015 22:00
Keppen-Lubinsky syndrome (KPLBS) is a rare disease mainly characterized by severe developmental delay and intellectual disability, microcephaly, large prominent eyes, a narrow nasal bridge, a tented upper lip, a high palate, an open mouth, tightly adherent skin, an aged appearance, and severe genera mai mult
The American Journal of Human Genetics
30 Decembrie 2014 22:00
Nephrotic syndrome (NS), the association of gross proteinuria, hypoalbuminaemia, edema, and hyperlipidemia, can be clinically divided into steroid-sensitive (SSNS) and steroid-resistant (SRNS) forms. SRNS regularly progresses to end-stage renal failure. By homozygosity mapping and whole exome sequen mai mult
The American Journal of Human Genetics
30 Decembrie 2014 22:00
We report five fetuses and a child from three families who shared a phenotype comprising cerebral ventriculomegaly and echogenic kidneys with histopathological findings of congenital nephrosis. The presenting features were greatly elevated maternal serum alpha-fetoprotein (MSAFP) or amniotic fluid a mai mult
The American Journal of Human Genetics
30 Decembrie 2014 22:00
The study of gene expression in mammalian single cells via genomic technologies now provides the possibility to investigate the patterns of allelic gene expression. We used single-cell RNA sequencing to detect the allele-specific mRNA level in 203 single human primary fibroblasts over 133,633 unique mai mult
The American Journal of Human Genetics
30 Decembrie 2014 22:00
Up to 20% of individuals who have thoracic aortic aneurysms or acute aortic dissections but who do not have syndromic features have a family history of thoracic aortic disease. Significant genetic heterogeneity is established for this familial condition. Whole-genome linkage analysis and exome seque mai mult
The American Journal of Human Genetics
30 Decembrie 2014 22:00
Nephronophthisis-related ciliopathies (NPHP-RC) are recessive diseases characterized by renal dysplasia or degeneration. We here identify mutations of DCDC2 as causing a renal-hepatic ciliopathy. DCDC2 localizes to the ciliary axoneme and to mitotic spindle fibers in a cell-cycle-dependent manner. K mai mult
The American Journal of Human Genetics
30 Decembrie 2014 22:00
Exon-specific U1 snRNAs (ExSpe U1s) are modified U1 snRNAs that interact with intronic sequences downstream of the 5?? splice site (ss) by complementarity. This process restores exon skipping caused by different types of mutation. We have investigated the molecular mechanism and activity of these m mai mult
The American Journal of Human Genetics
30 Decembrie 2014 22:00
Because of past limitations in samples and genotyping technologies, important questions about the history of the present-day Greenlandic population remain unanswered. In an effort to answer these questions and in general investigate the genetic history of the Greenlandic population, we analyzed ??2 mai mult
The American Journal of Human Genetics
.
1 - 30 din 835
paginamedicala.ro utilizeaza fisiere de tip cookie pentru a personaliza si imbunatati experienta ta pe website-ul nostru. Prin click pe butonul "Accepta" accepti utilizarea modulelor cookie. Daca ai nevoie de mai multe detalii despre cum functioneaza acestea, citeste Politica de confidentialitate