نتایج جستجو برای: 10q

تعداد نتایج: 340  

Journal: :Reports of biochemistry & molecular biology 2013
Aliakbar Rahbarimanesh Pupak Derakhshandeh-Peykar Amirhassan Barkhordari Reza Ebrahimzadeh-Vesal Soja Shamizadeh Kalkhoran

BACKGROUND Here we describe a new case of partial distal 10q trisomy in a 6-year-old Iranian girl from healthy parents with mental, growth, and psychomotor retardations. METHODS Additional clinical features include dysmorphic craniofacial features, microcephaly, bilateral hydronephrosis without heart problems, small and rotated low-set ears, bow-shaped mouth, abnormal teeth, short neck, and a...

Journal: :JPMA. The Journal of the Pakistan Medical Association 2017
Shahid Hussain Soomro Li Rui Ting Yang Yi Qing Mingxin Ren

Glioblastomas are regarded as the most common malignant brain tumours with great morphological and genetical heterogeneity. They comprise 12% to 15% of all intracranial tumours, with its peak observed in the 8th decade of life. The five-year survival is only 5%. Primary glioblastomas are more common in elders while secondary glioblastomas mostly involve younger people. Based upon gene expressio...

Journal: :Blood 2009
Derville O'Shea Ciarán O'Riain Manu Gupta Rachel Waters Youwen Yang David Wrench John Gribben Andreas Rosenwald German Ott Lisa M Rimsza Harald Holte Jean-Baptiste Cazier Nathalie A Johnson Elias Campo Wing C Chan Randy D Gascoyne Bryan D Young Louis M Staudt T Andrew Lister Jude Fitzgibbon

Acquired homozygosity in the form of segmental acquired uniparental disomy (aUPD) has been described in follicular lymphoma (FL) and is usually due to mitotic recombination. SNP array analysis was performed with the use of the Affymetrix 10K 2.0 Gene-chip array on DNA from 185 diagnostic FL patients to assess the prognostic relevance of aUPD. Genetic abnormalities were detected in 118 (65%) of ...

Journal: :Archives of pathology & laboratory medicine 2008
Yan Shi Nora Morgenstern

Granular cell astrocytoma (GCA) is a rare type of malignant brain tumor with distinct morphologic features and aggressive clinical behavior. Almost all GCAs occur in the cerebral hemispheres. It is characterized by a prominent component of bland-looking granular cells. The tumor cells are usually positive for glial fibrillary acidic protein, S100, CD68, and epithelial membrane antigen. The most...

Journal: :Human molecular genetics 2006
Ryozo Kuwano Akinori Miyashita Hiroyuki Arai Takashi Asada Masaki Imagawa Mikio Shoji Susumu Higuchi Katsuya Urakami Akiyoshi Kakita Hitoshi Takahashi Tamao Tsukie Shinichi Toyabe Kohei Akazawa Ichiro Kanazawa Yasuo Ihara

The apolipoprotein E (APOE) gene has been consistently shown to be a major genetic risk factor; however, all cases of Alzheimer's disease (AD) cannot be attributed to the epsilon4 variant of APOE, because about half of AD patients have the APOE-epsilon3*3 genotype. To identify an additional genetic risk factor(s), we performed large-scale single nucleotide polymorphism (SNP)-based association a...

Journal: :Neuro-degenerative diseases 2005
Andreas Papassotiropoulos Jean-Charles Lambert Fabienne Wavrant-De Vrièze M Axel Wollmer Heinz von der Kammer Johannes R Streffer Alessia Maddalena Kim-Dung Huynh Sibylle Wolleb Dieter Lutjohann Brigitte Schneider Dietmar R Thal Luigi M E Grimaldi Magdalini Tsolaki Elisabeth Kapaki Rivka Ravid Uwe Konietzko Thomas Hegi Thomas Pasch Hans Jung Heiko Braak Philippe Amouyel Evgeny I Rogaev John Hardy Christoph Hock Roger M Nitsch

Alzheimer's disease (AD) is the most common cause of dementia. It is characterized by beta-amyloid (A beta) plaques, neurofibrillary tangles and the degeneration of specifically vulnerable brain neurons. We observed high expression of the cholesterol 25-hydroxylase (CH25H) gene in specifically vulnerable brain regions of AD patients. CH25H maps to a region within 10q23 that has been previously ...

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