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About 38,638 results

Two clinical phenotypes in polycythemia vera.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4211877
The New England Journal of Medicine; Spivak JL, Considine M et. al.

Aug 27th, 2014 - Polycythemia vera is the ultimate phenotypic consequence of the V617F mutation in Janus kinase 2 (encoded by JAK2), but the extent to which this mutation influences the behavior of the involved CD34+ hematopoietic stem cells is unknown. We analyzed gene expression in CD34+ peripheral-blood cells from 19 patients with polycythemia vera, using oligonucleotide microarray technology after correctin...

Identification of RPS14 as a 5q- syndrome gene by RNA interference screen.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3771855
Nature Ebert BL, Pretz J et. al.

Jan 18th, 2008 - Somatic chromosomal deletions in cancer are thought to indicate the location of tumour suppressor genes, by which a complete loss of gene function occurs through biallelic deletion, point mutation or epigenetic silencing, thus fulfilling Knudson's two-hit hypothesis. In many recurrent deletions, however, such biallelic inactivation has not been found. One prominent example is the 5q- syndrome, ...

The natural history of multiple system atrophy: a prospective European cohort study.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581815
The Lancet. Neurology; Wenning GK, Geser F et. al.

Feb 8th, 2013 - Multiple system atrophy (MSA) is a fatal and still poorly understood degenerative movement disorder that is characterised by autonomic failure, cerebellar ataxia, and parkinsonism in various combinations. Here we present the final analysis of a prospective multicentre study by the European MSA Study Group to investigate the natural history of MSA. Patients with a clinical diagnosis of MSA were ...

Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymp...
https://doi.org/10.1016/j.jaci.2016.09.038
The Journal of Allergy and Clinical Immunology; Takagi M, Ogata S et. al.

Nov 15th, 2016 - Autoimmune diseases in children are rare and can be difficult to diagnose. Autoimmune lymphoproliferative syndrome (ALPS) is a well-characterized pediatric autoimmune disease caused by mutations in genes associated with the FAS-dependent apoptosis pathway. In addition, various genetic alterations are associated with the ALPS-like phenotype. The aim of the present study was to elucidate the gene...

Identification of cell-type-specific mutations in nodal T-cell lymphomas.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5301031
Blood Cancer Journal; Nguyen TB, Sakata-Yanagimoto M et. al.

Feb 5th, 2017 - Recent genetic analysis has identified frequent mutations in ten-eleven translocation 2 (TET2), DNA methyltransferase 3A (DNMT3A), isocitrate dehydrogenase 2 (IDH2) and ras homolog family member A (RHOA) in nodal T-cell lymphomas, including angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified. We examined the distribution of mutations in these subtypes of m...

High Frequency of Blackwater Fever Among Children Presenting to Hospital With Severe Fe...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5848229
Clinical Infectious Diseases : an Official Publication Of... Olupot-Olupot P, Engoru C et. al.

Mar 31st, 2017 - In the Fluid Expansion as a Supportive Treatment (FEAST) trial, an unexpectedly high proportion of participants from eastern Uganda presented with blackwater fever (BWF). We describe the prevalence and outcome of BWF among trial participants and compare the prevalence of 3 malaria-protective red blood cell polymorphisms in BWF cases vs both trial (non-BWF) and population controls. Of 3170 trial...

Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability wi...
https://doi.org/10.1111/j.1399-0004.2010.01590.x
Clinical Genetics; Filges I, Röthlisberger B et. al.

Nov 25th, 2010 - Submicroscopic chromosomal anomalies play an important role in the aetiology of intellectual disability (ID) and have been shown to account for up to 10% of non-syndromic forms. We present a family with two affected boys compatible with X-linked inheritance of a phenotype of severe neurodevelopmental disorder co-segregating with a deletion in Xp22.11 exclusively containing the PTCHD1 gene. Alth...

Type II enteropathy-associated T-cell lymphoma: a distinct aggressive lymphoma with fre...
https://doi.org/10.1097/PAS.0b013e318222dfcd
The American Journal of Surgical Pathology; Chan JK, Chan AC et. al.

Sep 16th, 2011 - Enteropathy-associated T-cell lymphoma (EATL), an uncommon lymphoma of intestinal intraepithelial T lymphocytes, occurs with a higher frequency in northern Europe due to association with celiac disease. Data on the occurrence of EATL in the Asian population, among whom celiac disease is very rare, are conflicting. This study aimed to characterize EATL encountered in the Chinese population in Ho...

von Hippel-Lindau disease: surveillance strategy for endolymphatic sac tumors.
https://doi.org/10.1097/GIM.0b013e31822beab1
Genetics in Medicine : Official Journal of the American C... Poulsen ML, Gimsing S et. al.

Sep 13th, 2011 - : Up to 16% of patients with the hereditary von Hippel-Lindau disease develop endolymphatic sac tumors of the inner ear. Early diagnosis and treatment of endolymphatic sac tumors can prevent audiovestibular morbidity, but optimal endolymphatic sac tumor surveillance strategy has yet to be determined. We aimed to evaluate endolymphatic sac tumor surveillance to determine the best surveillance st...

No evidence of locus heterogeneity in familial microcephaly with or without chorioretin...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4464120
Orphanet Journal of Rare Diseases; Schlögel MJ, Mendola A et. al.

May 2nd, 2015 - Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-severe microcephaly, often associated with intellectual disability, ocular defects and lymphedema. It can be sporadic or inherited. Eighty-seven patients have been described to carry a mutation in KIF1...

The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4930084
European Journal of Human Genetics : EJHG; Joyce S, Gordon K et. al.

Aug 5th, 2015 - The RASopathies, which include Noonan syndrome (NS) and Cardiofaciocutaneous syndrome (CFC), are autosomal dominant disorders with genetic heterogeneity associated with germline mutations of genes in the Ras/mitogen-activated protein kinase (MAPK; RAS-MAP kinase) pathway. The conditions overlap and are characterised by facial dysmorphism, short stature and congenital heart disease. NS and CFC, ...

Phenotyping adults with non-cystic fibrosis bronchiectasis: a prospective observational...
https://doi.org/10.1016/j.rmed.2013.04.013
Respiratory Medicine; Anwar GA, McDonnell MJ et. al.

May 15th, 2013 - Bronchiectasis is the outcome of a number of different airway insults. Very few studies have characterised the aetiology and utility of a dedicated screening proforma in adult patients attending a general bronchiectasis clinic. A prospective observational study of 189 bronchiectasis patients attending two centres in the North East of England over a two-year period was performed. The aetiology o...

Carpenter syndrome: a review for the craniofacial surgeon.
https://doi.org/10.1097/SCS.0000000000001121
The Journal of Craniofacial Surgery; Kadakia S, Helman SN et. al.

Aug 27th, 2014 - As of now, there is no review of Carpenter syndrome (CS) for the craniofacial surgeon. This article seeks to unify salient recent studies to provide a resource for surgical planning and overview of this challenging syndrome. The phenotypic characteristics of CS are diverse, and the molecular underpinnings are equally complex. To date, the surgical management of this syndrome has not been fully ...

Integrative genomics identifies LMO1 as a neuroblastoma oncogene.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3320515
Nature Wang K, Diskin SJ et. al.

Dec 2nd, 2010 - Neuroblastoma is a childhood cancer of the sympathetic nervous system that accounts for approximately 10% of all paediatric oncology deaths. To identify genetic risk factors for neuroblastoma, we performed a genome-wide association study (GWAS) on 2,251 patients and 6,097 control subjects of European ancestry from four case series. Here we report a significant association within LIM domain only...

A recessive form of extreme macrocephaly and mild intellectual disability complements t...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4820037
European Journal of Human Genetics : EJHG; Schwerd T, Khaled AV et. al.

Oct 7th, 2015 - PTEN hamartoma tumour syndrome (PHTS) is caused by heterozygous variants in PTEN and is characterised by tumour predisposition, macrocephaly, and cognition impairment. Bi-allelic loss of PTEN activity has not been reported so far and animal models suggest that bi-allelic loss of PTEN activity is embryonically lethal. Here, we report the identification of a novel homozygous variant in PTEN, NM_0...

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2759321
Gastroenterology Senter L, Clendenning M et. al.

Jul 7th, 2008 - Although the clinical phenotype of Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer) has been well described, little is known about disease in PMS2 mutation carriers. Now that mutation detection methods can discern mutations in PMS2 from mutations in its pseudogenes, more mutation carriers have been identified. Information about the clinical significance of PMS2 mutations...

A new severity score index for phenotypic classification and evaluation of responses to...
https://doi.org/10.3324/haematol.12379
Haematologica Di Rocco M, Giona F et. al.

Jul 7th, 2008 - Gaucher disease is the first lysosomal storage disease for which specific therapy became available. Over 4800 patients have been treated with enzyme replacement therapy. Analysis of Gaucher disease registry data has outlined the clinical heterogeneity of the disease and the different responses to treatment from patient to patient, and for different organs. This variability in clinical response ...

Cystic fibrosis genetics: from molecular understanding to clinical application.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4364438
Nature Reviews. Genetics; Cutting GR

Nov 18th, 2014 - The availability of the human genome sequence and tools for interrogating individual genomes provide an unprecedented opportunity to apply genetics to medicine. Mendelian conditions, which are caused by dysfunction of a single gene, offer powerful examples that illustrate how genetics can provide insights into disease. Cystic fibrosis, one of the more common lethal autosomal recessive Mendelian...

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795044
European Journal of Human Genetics : EJHG; Kuechler A, Zink AM et. al.

Aug 20th, 2014 - Intellectual disability (ID) has an estimated prevalence of 2-3%. Due to its extreme heterogeneity, the genetic basis of ID remains elusive in many cases. Recently, whole exome sequencing (WES) studies revealed that a large proportion of sporadic cases are caused by de novo gene variants. To identify further genes involved in ID, we performed WES in 250 patients with unexplained ID and their un...

A genetic score for the prediction of beta-thalassemia severity.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4380717
Haematologica Danjou F, Francavilla M et. al.

Dec 6th, 2014 - Clinical and hematologic characteristics of beta(β)-thalassemia are determined by several factors resulting in a wide spectrum of severity. Phenotype modulators are: HBB mutations, HBA defects and fetal hemoglobin production modulators (HBG2:g.-158C>T polymorphism, HBS1L-MYB intergenic region and the BCL11A). We characterized 54 genetic variants at these five loci robustly associated with the a...