Results 11 to 20 of about 306,932 (310)

Hyaline fibromatosis syndrome: A rare inherited disorder

Indian Journal of Dermatology, 2016
Hyaline fibromatosis syndrome (HFS) is rare autosomal recessive disease characterized by the deposition of amorphous hyaline material in skin and visceral organs.
Meeta Dipak Mantri, Mahajan M Pradeep, Patil O Kalpesh, Raj J Pranavsinh   +3 more
doaj   +2 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

Prevalence of Disorders Recorded in Dogs Attending Primary-Care Veterinary Practices in England [PDF]

, 2014
Purebred dog health is thought to be compromised by an increasing occurence of inherited diseases but inadequate prevalence data on common disorders have hampered efforts to prioritise health reforms. Analysis of primary veterinary practice clinical data
A Agresti, A Egenvall, A Egenvall, A Egenvall, A Egenvall, A Hillier, A Kathrani, A Neuber, AB Stone, AJ German, AJ German, AM Lourenço-Martins, B Wilson, BN Bonnett, C Albuquerque, C Mellersh, Cheryl S. Rosenfeld, CL Aragon, Dan G. O′Neill, Dave C. Brodbelt, David B. Church, DD Sleator, DN Irion, DR Ownby, E Friedmann, EM Lund, F Walsh, FC Calboli, FD McMillan, FJD Smith, G Chodick, G Dank, G Leroy, GC Knight, GM Gobar, GP Page, H Soll-Johanning, HD Pedersen, HE Hein, J Virués-Ortega, JE Houlton, JF Summers, JI Hudson, JK Murray, JLN Wood, JM Fleming, JS Rand, KD Mandl, L Asher, L Asher, L Kearsley-Fleet, LM Collins, LM Collins, M Aickin, MB Willis, MK Rust, MP Starkey, MR Slater, MW Neff, MY Powers, N Pearce, NJ Rooney, NJ Rooney, P Froom, P Royston, Paul D. McGreevy, PC Bartlett, PD McGreevy, PD McGreevy, Peter C. Thomson, PM Mountziaris, R Bender, R Feise, R Marsella, R Medzhitov, RM Batt, RMA Packer, S Brady, S Crispin, S Greenland, S Platt, SFJ Hodgman, T Lewis, T Lewis, TP Bellumori, TW Lewis, U John, VJ Adams, WB Lober, Å Vilson   +89 more
core   +11 more sources

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

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

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

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

Autism genetics: searching for specificity and convergence. [PDF]

, 2012
Advances in genetics and genomics have improved our understanding of autism spectrum disorders. As many genes have been implicated, we look to points of convergence among these genes across biological systems to better understand and treat these ...
Berg, Jamee M, Geschwind, Daniel H
core   +1 more source