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Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 8022 - 10
Aggresomes are transient microtubule-dependent inclusion bodies that sequester misfolded proteins and are ultimately removed by autophagy. Here we report the... 
MULTIPLE-MYELOMA | AUTOPHAGY GENE | STONE-LIKE STRUCTURES | MULTIDISCIPLINARY SCIENCES | PROTEASOME | TUMOR-SUPPRESSOR | DEGRADATION | PATTERNS | PROGNOSTIC RELEVANCE | QUALITY-CONTROL | MISFOLDED PROTEINS | Vimentin | Choroid plexus | Aggresomes | Phagosomes | Gene expression | Autophagy | Protein folding | Inclusion bodies | Quality control | DNA methylation | Children | Methylation | Phagocytosis | Index Medicus
Journal Article
Journal of Human Reproductive Sciences, ISSN 0974-1208, 04/2019, Volume 12, Issue 2, pp. 85 - 91
C, p. Ser342Thr), rs193303104 (c.1048G>T, p. Val350Leu), rs201947677 (c.1064G>A, p. Arg355His), and rs146227301 (c.1856C>T, p. Pro619Leu), only represent the... 
newborn ovary homeobox gene | Female infertility | poor ovarian response | Medical research | Genes | Medicine, Experimental | Genetic aspects | Genetic transcription | Research | Single nucleotide polymorphisms | In vitro fertilization | Sample size | Family medical history | Radiation therapy | Kinases | Studies | Homeobox | Pregnancy | Chemotherapy | Hospitals | Cysts | Infertility | Mutation | Females | Age | Genotypes | Original
Journal Article
Journal Article
Electric Power Components and Systems, ISSN 1532-5008, 07/2019, pp. 1 - 13
Journal Article
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 07/2012, Volume 91, Issue 1, p. 171
The article identifies a founder homozygous mutation observed in the highly conserved homeobox gene, HOXB1 in two different families. The phenotype thus... 
Gene mutations | Genetic susceptibility | Familial diseases | Causes of | Genetic aspects | Research | Genetic transcription
Journal Article
by Di Gioia, Silvio Alessandro and Connors, Samantha and Matsunami, Norisada and Cannavino, Jessica and Rose, Matthew F and Gilette, Nicole M and Artoni, Pietro and De Macena Sobreira, Nara Lygia and Chan, Wai-Man and Webb, Bryn D and Robson, Caroline D and Cheng, Long and Van Ryzin, Carol and Ramirez-Martinez, Andres and Mohassel, Payam and Leppert, Mark and Scholand, Mary Beth and Grunseich, Christopher and Ferreira, Carlos R and Hartman, Tyler and Hayes, Ian M and Morgan, Tim and Markie, David M and Fagiolini, Michela and Swift, Amy and Chines, Peter S and Speck-Martins, Carlos E and Collins, Francis S and Jabs, Ethylin Wang and Bönnemann, Carsten G and Olson, Eric N and Carey, John C and Robertson, Stephen P and Manoli, Irini and Engle, Elizabeth C and Andrews, Caroline V and Barry, Brenda J and Hunter, David G and Mackinnon, Sarah E and Shaaban, Sherin and Erazo, Monica and Frempong, Tamiesha and Hao, Ke and Naidich, Thomas P and Rucker, Janet C and Zhang, Zhongyang and Biesecker, Barbara B and Bonnycastle, Lori L and Brewer, Carmen C and Brooks, Brian P and Butman, John A and Chien, Wade W and Farrell, Kathleen and FitzGibbon, Edmond J and Gropman, Andrea L and Hutchinson, Elizabeth B and Jain, Minal S and King, Kelly A and Lehky, Tanya J and Lee, Janice and Liberton, Denise K and Narisu, Narisu and Paul, Scott M and Sadeghi, Neda and Snow, Joseph and Solomon, Beth and Summers, Angela and Toro, Camilo and Thurm, Audrey and Zalewski, Christopher K and Moebius Syndrome Res Consortium and Moebius Syndrome Research Consortium
Nature Communications, ISSN 2041-1723, 07/2017, Volume 8, Issue 1, pp. 16077 - 16077
Journal Article
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 12/2013, Volume 131, Issue 12, p. 1532
  Total ophthalmoplegia can result from ryanodine receptor 1 (RYR1) mutations without overt associated skeletal myopathy. Patients carrying RYR1 mutations are... 
Risk assessment | Amino acids | Eye diseases | Ophthalmology | Mutation | Fever | Children & youth
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 12/2013, Volume 131, Issue 12, p. 1532
Journal Article
by Shaaban, Sherin and Mackinnon, Sarah and Andrews, Caroline and Staffieri, Sandra E and Maconachie, Gail D. E and Chan, Wai-Man and Whitman, Mary C and Morton, Sarah U and Yazar, Seyhan and Macgregor, Stuart and Elder, James E and Traboulsi, Elias I and Gottlob, Irene and Hewitt, Alex W and Hunter, David G and Mackey, David A and Engle, Elizabeth C and Baglieri, Anna and Barry, Brenda and Bekele, Sarah and Breau, Sarah E and Chan, Kimberley and Corkin, Frances and Dagi, Linda R and Elliott, Alexandra and Esligar, Janet and Fang, Caroline and Fulton, Anne B and Heidary, Gena and Johnston, Suzanne and Kazlas, Melanie and Ledoux, Danielle M and Levy, Richard L and Mantagos, Iason S and Miller, Kathryn B and Mills, Monte and Oystreck, Darren and Petersen, Christina S and Petersen, Robert A and Pierce, Carrie E and Raghuram, Aparna and Robb, Richard and Sandoval, Josephine C and Sethee, Sonia and Shah, Ankoor S and Smith, Lois E. H and Toffoloni, Melissa and Vanderveen, Deborah K and Whitecross, Sarah and Wong, Rupa K and Wu, Carolyn and Barbour, Julie and Clarke, Linda and Dondey, Joanne C and Flaherty, Maree and Grigg, John and Hanman, Kate and Haybittel, Michael and Jamieson, Robyn V and Kearns, Lisa S and Kowal, Lionel and Lam, Geoffrey C and Joon, Troy Lim and McKenzie, John and Rose, Loren and Ruddle, Jonathan B and Scotter, Lindsey and Sinclair, Neil E and Wilkinson, Colleen and Wilkinson, Robin and Sheth, Viral and Thomas, Mervyn G and Strabismus Genetics Res Consortium and Strabismus Genetics Research Consortium
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 08/2018, Volume 59, Issue 10, pp. 4054 - 4064
PURPOSE. To identify genetic variants conferring susceptibility to esotropia. Esotropia is the most common form of comitant strabismus, has its highest... 
Esotropia | Parent-of-origin | Strabismus | Genome-wide association study | WRB | RISK-FACTORS | VISION | VISUAL IMPAIRMENT | PREVALENCE | PREGNANCY | DNA METHYLATION ANALYSIS | strabismus | ADULT STRABISMUS | genome-wide association study | DOWN-SYNDROME | OPHTHALMOLOGY | MATERNAL SMOKING | esotropia | parent-of-origin | Index Medicus | Genetics
Journal Article
Investigative Ophthalmology & Visual Science, ISSN 0146-0404, 02/2009, Volume 50, Issue 2, pp. 654 - 661
Journal Article
Molecular Vision, ISSN 1090-0535, 2009, Volume 15, Issue 141-42, pp. 1351 - 1358
Purpose: Comitant strabismus is a common pediatric ophthalmic disorder with both genetic and non-genetic factors contributing to its etiology. The aim of the... 
TESTS | BIOCHEMISTRY & MOLECULAR BIOLOGY | SUSCEPTIBILITY LOCI | OPHTHALMOLOGY | LOD SCORES | INHERITANCE | MAP | MULTIPOINT LINKAGE ANALYSIS | Genomic Imprinting - genetics | Quantitative Trait, Heritable | Chromosomes, Human - genetics | Humans | Parents | Female | Male | Strabismus - genetics | Lod Score | Index Medicus
Journal Article
Middle East African journal of ophthalmology, ISSN 0974-9233, 01/2009, Volume 16, Issue 1, pp. 29 - 34
To evaluate a low vision rehabilitation service implemented for heterogeneously diverse group of Egyptianpatients with vision loss in terms of improving their... 
Low vision | Care and treatment | Ophthalmology | Research | Diabetic retinopathy | Complaints | Eyes & eyesight | Developing countries--LDCs | Blindness | Visual Rehabilitation | Low Vision aids | Original | Visual Impairment
Journal Article
Investigative Opthalmology & Visual Science, ISSN 1552-5783, 08/2011, Volume 52, Issue 9, p. 6321
Journal Article
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