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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 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...

• 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...

• 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...

• 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...

• Investigation of the relationship between clinical and EEG findings of photosensitive epilepsy and GABA receptor alpha 1 subunit (GABRA1) gene mutations/Fotosensitif epilepsilerde klinik ve EEG bulgularinin GABA reseptor alfa 1 alt unitesi (GABRA1) geni mutasyonlari ile iliskisinin arastirilmasi

  Authors:Ebru Nur Yavuz, Ayse Demirkan, Sanne Moen, Ozkan Ozdemir, Suzin Catal, Nerses Bebek, et al.From:Archives of Neuropsychiatry (Vol. 48, Issue 1) Peer-Reviewed

  Mar. 20112,867 words Report 1280LObjective: Although photosensitive epilepsy (PE) is commonly observed, its pathophysiology has not been clarified yet. However, relevant literature indicates that genetic factors play an important role. Our aim was to...

• Molecular studies of the CHD7 gene: an obligatory diagnostic step in an expanding range of clinical phenotypes

  Authors:Lies H Hoefsloot, Nicole Corsten-Janssen, and Conny MA van Ravenswaaij-ArtsFrom:Expert Review of Molecular Diagnostics (Vol. 12, Issue 8) Peer-Reviewed

  Nov. 20122,019 words Report 1530LAuthor(s): Lies H Hoefsloot 1 , Nicole Corsten-Janssen 2 , Conny MA van Ravenswaaij-Arts 3 Keywords : 22q11.2 deletion syndrome; CHARGE syndrome; CHD7; Kallmann syndrome Clinical features of CHARGE syndrome...

• Bulletin Board

  From:Future Oncology (Vol. 8, Issue 1) Peer-Reviewed

  Jan. 2012498 words Report 1440LRecent research has revealed over 200 genes which, when mutated, could drive tumorigenesis in colorectal cancer. Insertional mutagenesis was performed in mouse models to identify the genes, many of which have not...

• Exome versus transcriptome sequencing in identifying coding region variants

  Authors:Chee-Seng Ku, Mengchu Wu, David N Cooper, Nasheen Naidoo, Yudi Pawitan, Brendan Pang, et al.From:Expert Review of Molecular Diagnostics (Vol. 12, Issue 3) Peer-Reviewed

  Apr. 20129,410 words Article 1480LAuthor(s): Chee-Seng Ku [**] 7 , Mengchu Wu 1 , David N Cooper 2 , Nasheen Naidoo 3 , Yudi Pawitan 4 , Brendan Pang 5 , Barry Iacopetta 6 , Richie Soong 1 Keywords : exome; exome enrichment; next-generation...

• Bone marrow transplantation in epidermolysis bullosa

  Authors:Alya Abdul-Wahab, Gabriela Petrof, and John A McGrathFrom:Immunotherapy (Vol. 4, Issue 12) Peer-Reviewed

  Dec. 20126,406 words Report 1730LAuthor(s): Alya Abdul-Wahab 1 , Gabriela Petrof 1 , John A McGrath [*] 2 KEYWORDS : blister; cell therapy; stem cell; type VII collagen Epidermolysis bullosa & the therapeutic challenge One of the key...

• 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...

• 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...

• Molecular mechanisms of temozolomide resistance in glioblastoma multiforme

  Authors:Tor-Christian Aase Johannessen and Rolf BjerkvigFrom:Expert Review of Anticancer Therapy (Vol. 12, Issue 5) Peer-Reviewed

  May 20126,570 words Report 1600LAuthor(s): Tor-Christian Aase Johannessen [*] 3 , Rolf Bjerkvig 1 2 Keywords : base excision repair; cancer stem-like cell; glioblastoma; MGMT; mismatch repair; PARP; temozolomide; treatment resistance...

• Toxin-induced and genetic animal models of Parkinson's disease

  Authors:Shin Hisahara and Shun ShimohamaFrom:Parkinson's DiseasePeer-Reviewed

  Annual 201111,243 words Report 1440LParkinson's disease (PD) is a common progressive neurodegenerative disorder. The major pathological hallmarks of PD are the selective loss of nigrostriatal dopaminergic neurons and the presence of intraneuronal...