Results 11 to 20 of about 308,307 (292)

Inherited platelet disorders [PDF]

Journal of Veterinary Emergency and Critical Care, 2012
AbstractObjectiveTo present the latest information on inherited platelet disorders in domestic animals.Data SourcesResearch articles and reviews spanning 40 years available on PubMed.Human Data SynthesisInformation regarding inherited platelet disorders in people is plentiful and often descriptions of human conditions have led to the identification of ...
A T, Nurden, K, Freson, U, Seligsohn
openaire   +4 more sources

Assessment of respiratory involvement in children with mucoplysaccharidosis using pulmonary function tests

Egyptian Journal of Medical Human Genetics, 2014
Background: Mucopolysaccharidosis (MPS) are classified into seven clinical types based on eleven known lysosomal enzyme deficiencies of glycosaminoglycan (GAG) metabolism.
Mona M. El Falaki, Marian Y. Girgis, Aliaa A. Ali, Mohamed A. Elmonem, Heba M. Ismail   +4 more
doaj   +1 more source

Curcumin–Copper Complex Nanoparticles for the Management of Triple-Negative Breast Cancer

Nanomaterials, 2018
Breast cancer is the most common cancer diagnosed among females worldwide. Although breast cancer survival has largely improved in the past 30 years, it remains highly heterogeneous in its response to treatment.
Khaled Greish, Valeria Pittalà, Sebastien Taurin, Safa Taha, Fatemah Bahman, Aanchal Mathur, Anfal Jasim, Fatima Mohammed, Ibrahim M. El-Deeb, Salim Fredericks, Fiza Rashid-Doubell   +10 more
doaj   +1 more source

A global disorder of imprinting in the human female germ line [PDF]

, 2002
Imprinted genes are expressed differently depending on whether they are carried by a chromosome of maternal or paternal origin. Correct imprinting is established by germline-specific modifications; failure of this process underlies several inherited ...
A Kerjean, BE Hayward, BE Hayward, BE Hayward, Bruce E. Hayward, D Bourc’his, David T. Bonthron, Eamonn Sheridan, Hannah Judson, J Liu, J Liu, JS Sutcliffe, K Buiting, L Strain, M Kamiya, MN Helwani, MP Lee, NJ Smilinich, O El-Maarri, R Shemer, RA Fisher, RJ Gardner, S Engemann, SJ Clark, SK Murphy, T Kajii, T Kaneko-Ishino, T Ohta, W Reik, W Reik, YB Moglabey   +30 more
core   +1 more source

Prevalence of disorders recorded in Cavalier King Charles Spaniels attending primary-care veterinary practices in England [PDF]

, 2015
Concerns have been raised over breed-related health issues in purebred dogs, but reliable prevalence estimates for disorders within specific breeds are sparse.
Brodbelt, D C, Church, D B, McGreevy, P D, O'Neill, D G, Summers, J F, Thomson, P C   +5 more
core   +3 more sources

Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders. [PDF]

, 2019
Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD.
Brian, J, Bryson, SE, Buchanan, JA, D'Abate, L, Davies, RW, Dobkins, K, Howe, J, Landa, R, Leef, J, Messinger, D, Ozonoff, S, Scherer, SW, Smith, IM, Stone, WL, Tammimies, K, Thiruvahindrapuram, B, Walker, S, Warren, ZE, Wei, J, Young, G, Yuen, RKC, Zwaigenbaum, L   +21 more
core   +2 more sources

The differential diagnosis of chorea [PDF]

, 2007
Chorea is a hyperkinetic movement disorder characterised by excessive spontaneous movements that are irregularly timed, randomly distributed and abrupt. In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the ...
Tabrizi, SJ, Wild, EJ
core   +1 more source

A Rare Case of Epidermodysplasia Verruciformis with Non Syndromic Hearing Loss [PDF]

Journal of Clinical and Diagnostic Research
The onset of Non Syndromic Hearing Loss (NSHL) typically occurs without any other symptoms and can vary from person to person, even within the same family. Hearing loss can be unilateral or bilateral and can range from mild to profound degrees of hearing
Soham Meghe, AL Singh, Yash Kashikar, Sudhir Singh   +3 more
doaj   +1 more source

Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes [PDF]

, 2016
Background: Congenital dilatation of the bile-duct (CDD) is a rare, mostly sporadic, disorder that results in bile retention with severe associated complications. CDD affects mainly Asians.
Campbell, Desmond, Cheng, Guo, Cherny, Stacey S., Chung, Patrick H. Y., Garcia-Barcelo, Maria-Mercè, Ngo, Ngoc Diem, Sham, Pak C., So, Man-ting, Tam, Paul K., Tang, Clara S. M., Tran, Ngoc Son, Wong, John K. L., Yeung, Fanny   +12 more
core   +1 more source

Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus [PDF]

, 2003
BACKGROUND: Leber’s congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist.
Inglehearn, C.F., Jafri, H., McKibbin, M.A., Mohamed, M.D., Raashed, Y., Topping, N.C   +5 more
core   +1 more source