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    Academic Journals

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• Cerebrotendinous Xanthomatosis: Report of two cases and a novel genetic mutation in an Indian patient

  Authors:Bhupender Bajaj, Anand Singh, Kuljeet Anand, and Jyoti GargFrom:Journal of Neurosciences in Rural Practice (Vol. 4, Issue 5) Peer-Reviewed

  Aug. 20131,984 words Clinical report 1430LByline: Bhupender. Bajaj, Anand. Singh, Kuljeet. Anand, Jyoti. Garg Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive disorder of bile acid metabolism manifesting typically with the triad of neurological...

• Clinico-pathological impact of cytogenetic subgroups in B-cell chronic lymphocytic leukemia: Experience from India

  Authors:PS Amare, V. Gadage, H. Jain, S. Nikalje, S. Manju, N. Mittal, et al.From:Indian Journal of Cancer (Vol. 50, Issue 3) Peer-Reviewed

  July-September 20134,038 words Report 1680LByline: PS. Amare, V. Gadage, H. Jain, S. Nikalje, S. Manju, N. Mittal, S. Gujral, R. Nair Background: The present study of 238 B-cell Chronic Lymphocytic Leukemia (B-CLL) patients were undertaken to seek the...

• Multiple sulfatase deficiency: A case series of four children

  Authors:Faruk Incecik, Mehmet Ozbek, Serdal Gungor, Stefano Pepe, Ozlem Herguner, Neslihan Mungan, et al.From:Annals of Indian Academy of Neurology (Vol. 16, Issue 4) Peer-Reviewed

  October-December 20131,602 words Clinical report 1390LByline: Faruk. Incecik, Mehmet. Ozbek, Serdal. Gungor, Stefano. Pepe, Ozlem. Herguner, Neslihan. Mungan, Sabiha. Gungor, Sakir. Altunbasak Multiple sulfatase deficiency is biochemically characterized by the...

• The proportion of tetrahydrobiopterin deficiency and PAH gene deficiency variants among cases with hyperphenyalaninemia in Western Iran

  Authors:Keyvan Moradi, Reza Alibakhshi, and Shohreh KhatamiFrom:Indian Journal of Human Genetics (Vol. 19, Issue 4) Peer-Reviewed

  October-December 20132,350 words Report 1760LByline: Keyvan. Moradi, Reza. Alibakhshi, Shohreh. Khatami Background: Defects either in phenylalanine hydroxylase (PheOH) or in the production and recycling of its cofactor (tetrahydrobiopterin [BH4]) are the causes...

• The impact of FLT3 mutations on the development of acute myeloid leukemias

  Authors:Ugo Testa and Elvira PelosiFrom:Leukemia Research and TreatmentPeer-Reviewed

  Annual 201312,218 words Report 1510LThe development of the genetic studies on acute myeloid leukemias (AMLs) has led to the identification of some recurrent genetic abnormalities. Their discovery was of fundamental importance not only for a better...

• Eyes offer window on dementia

  From:Nature (Vol. 513, Issue 7516) Peer-Reviewed

  Sept. 4, 2014129 words Abstract, Brief arti... 1410LThe loss of cells in the retina might predict a common type of dementia years before behavioural changes set in. A team led by Li Gan and Ari Green at the University of California, San Francisco, imaged the retinas...

• Development and translational imaging of a TP53 porcine tumorigenesis model

  Authors:Jessica C. Sieren, David K. Meyerholz, Xiao-Jun Wang, Bryan T. Davis, John D. Newell, Jr., Emily Hammond, et al.From:Journal of Clinical Investigation (Vol. 124, Issue 9) Peer-Reviewed

  Sept. 201410,698 words Report 1430LCancer is the second deadliest disease in the United States, necessitating improvements in tumor diagnosis and treatment. Current model systems of cancer are informative, but translating promising imaging approaches and...

• A comparison of consistency of detecting BRAF gene mutations in peripheral blood and tumor tissue of nonsmall-cell lung cancer patients

  Authors:Meiyu Fang, Chunwei Xu, Jie Wu, Yuping Zhang, and Chao HeFrom:Journal of Cancer Research and Therapeutics (Vol. 10, Issue 7) Peer-Reviewed

  Nov. 20143,150 words Report 1630LByline: Meiyu. Fang, Chunwei. Xu, Jie. Wu, Yuping. Zhang, Chao. He Objective: The aim was to detect the consistency of the BRAF gene mutation in peripheral blood and tumor tissue of patients with nonsmall-cell lung...

• Disease distribution manner of people's body without mutation in DYT1 gene of dystonia disease in Iran

  Authors:Sahereh Rahnavard, Mohamad Hamid, and Zahra ZandFrom:Advances in Environmental BiologyPeer-Reviewed

  July 23, 20142,575 words Report 1300LDystonia is a motional-nervous disorder which is caused by pathologic damages of muscle and led to repetitive and spontaneous movements due to long contraction of muscles which look like ticks and finally directed to...

• Should we keep on? Looking into pharmacogenomics of ADHD in adulthood from a different perspective

  Authors:Diego L Rovaris, Nina R Mota, Bruna Santos da Silva, Pricila Girardi, Marcelo M Victor, Eugenio H Grevet, et al.From:Pharmacogenomics (Vol. 15, Issue 10) Peer-Reviewed

  July 201412,340 words Report 2060LAuthor(s): Diego L Rovaris aff1 aff2 , Nina R Mota aff1 aff2 , Bruna Santos da Silva aff1 aff2 , Pricila Girardi aff3 , Marcelo M Victor aff2 , Eugenio H Grevet aff2 aff4 , Claiton HD Bau [,*] aff1 aff2 aff5 , Verônica...

• Emopamil binding protein mutation in conradi-hunermann-happle syndrome representing plaque-type psoriasis

  Authors:Kemal Ozyurt, Asli Subasioglu, Perihan Ozturk, Rahime Inci, Fuat Ozkan, and Elena BuenoFrom:Indian Journal of Dermatology (Vol. 60, Issue 2) Peer-Reviewed

  March-April 20151,415 words Case study 1680LByline: Kemal. Ozyurt, Asli. Subasioglu, Perihan. Ozturk, Rahime. Inci, Fuat. Ozkan, Elena. Bueno, Javier. Canueto, Rogelio. Gonzalez Sarmiento Conradi-Hunermann-Happle syndrome (CDPX2, OMIM 302960) is an inherited...

• EGFR mutations in lung cancer: from tissue testing to liquid biopsy

  Authors:Francesca Fenizia, Antonella De Luca, Raffaella Pasquale, Alessandra Sacco, Laura Forgione, Matilde Lambiase, et al.From:Future Oncology (Vol. 11, Issue 11) Peer-Reviewed

  June 20159,703 words Report 1950LAuthor(s): Francesca Fenizia aff1 , Antonella De Luca aff2 , Raffaella Pasquale aff1 , Alessandra Sacco aff1 , Laura Forgione aff1 , Matilde Lambiase aff1 , Alessia Iannaccone aff1 , Nicoletta Chicchinelli aff2 , Renato...

• Chromosomal aberrations in atypical and anaplastic meningiomas: A fluorescence in situ hybridization study

  Authors:Nishanth Sadashiva, Harsh Sugur, Dwarakanath Srinivas, Vani Santosh, and Sampath SomannaFrom:Neurology India (Vol. 63, Issue 4) Peer-Reviewed

  July-August 20153,755 words Report 1530LByline: Nishanth. Sadashiva, Harsh. Sugur, Dwarakanath. Srinivas, Vani. Santosh, Sampath. Somanna Objective: There is significant variability in the biologic behavior of meningiomas, especially of atypical and...

• A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients

  Authors:Munis Dundar, Aslihan Kiraz, Elif Funda Emirogullari, Cetin Saatci, Serpil Taheri, Mevlut Baskol, et al.From:Annals of Saudi Medicine (Vol. 32, Issue 4) Peer-Reviewed

  July-August 20123,773 words Article 1420LBACKGROUND AND OBJECTIVES: Familial Mediterranean fever (FMF) is an autosomal recessive disorder caused by mutations in MEFV gene, which encodes pyrin. FMF is especially prevalent among Turks, Armenians, non-Ashkenazi...

• Evaluation of molecular genetic variation associated with deep venous thrombosis in lower limb fractures in traumatic patients

  Authors:Ali Tabrizi, Mohammad Bazavar, Asghar Elmi, Amir Vahedi, and Nilsa DourandishFrom:Indian Journal of Medical Sciences (Vol. 66, Issue 9) Peer-Reviewed

  Sept. 20122,917 words Report 1670LByline: Ali. Tabrizi, Mohammad. Bazavar, Asghar. Elmi, Amir. Vahedi, Nilsa. Dourandish Background: Genetic variation in multiple genes associated with hemostasis and thrombosis is well documented to impact the rates...

• Expression of mutant BMPR-II in pulmonary endothelial cells promotes apoptosis and a release of factors that stimulate proliferation of pulmonary arterial smooth muscle cells

  Authors:Xudong Yang, Lu Long, Paul Reynolds, and Nicholas MorrellFrom:Pulmonary Circulation (Vol. 1, Issue 1) Peer-Reviewed

  January-March 20113,600 words Report 1620LByline: Xudong. Yang, Lu. Long, Paul. Reynolds, Nicholas. Morrell Mutations in the bone morphogenetic protein type II receptor gene (BMPR-II) are the major cause of heritable pulmonary arterial hypertension (PAH)....

• Prevalence of the Pro12Ala missense mutation in the PPARG2 gene in Kuwaiti patients with primary knee osteoarthritis

  Authors:Khaled Al-Jarallah, Diaa Shehab, and Mohammad HaiderFrom:Annals of Saudi Medicine (Vol. 31, Issue 1) Peer-Reviewed

  January-February 20112,653 words Clinical report 1600LByline: Khaled. Al-Jarallah, Diaa. Shehab, Mohammad. Haider Background and Objectives: Peroxisome proliferator-activated receptors (PPARs) play an important role in a number of cellular and metabolic functions. This...

• Schnyder corneal dystrophy in a Saudi Arabian family with heterozygous UBIAD1 mutation (p.L121F)

  Authors:Huda Al-Ghadeer, Jawahir Mohamed, and Arif KhanFrom:Middle East African Journal of Ophthalmology (Vol. 18, Issue 1) Peer-Reviewed

  January-March 20111,543 words Report 1580LByline: Huda. Al-Ghadeer, Jawahir. Mohamed, Arif. Khan Schnyder corneal dystrophy is a rare dominant disorder mostly reported in Western and occasionally Asian populations. This report documents the condition in an...

• Novel molecular trends in the management of advanced non-small-cell lung cancer

  Authors:Giulio Metro and Lucio CrinoFrom:Expert Review of Anticancer Therapy (Vol. 12, Issue 6) Peer-Reviewed

  June 20123,000 words Report 1550LAuthor(s): Giulio Metro 1 , Lucio Crinò [*] 2 Keywords : ALK; angiogenesis; bevacizumab; BRAF; crizotinib; KRAS; NSCLC; squamous cell carcinoma of the lung The 13th European Congress: Perspectives in Lung...

• Next-generation sequencing-based testing for cancer mutational landscape diversity: clinical implications?

  Authors:Christos Katsios, Costas Papaloukas, Margaret Tzaphlidou, and Dimitrios H RoukosFrom:Expert Review of Molecular Diagnostics (Vol. 12, Issue 7) Peer-Reviewed

  Sept. 20122,398 words Report 1670LAuthor(s): Christos Katsios 1 , Costas Papaloukas 2 , Margaret Tzaphlidou 3 , Dimitrios H Roukos 4 Keywords : cancer genome; heterogeneity; mutations; NGS-WES; personalized diagnostics Although tumor cell...