Results 71 to 80 of about 44,889 (298)

Axenfeld-Rieger syndrome

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2018
Axenfeld-Rieger syndrome is a rare congenital disease that has an autosomal-dominant inheritance pattern. The ophthalmic disorder with the dysgenesis of the anterior segment is what defines the disease. This study presents the case of a 9-month-old still-
Kenia Verdecia-Jacobo, Enaydys Gómez-de-Armas, Katiria Sales-Armas   +2 more
doaj  

Donor-transmitted melanoma after limbal stem cell transplantation

Avicenna Journal of Medicine, 2017
Limbal Stem Cells are a unique cell line located at the corneal limbus. They are responsible for regenerating and restoring corneal epithelial layers.
Anas Alsara, Muhammad Rafi
doaj   +1 more source

Hereditary eye diseases by dogs

, 2012
The aim of the bachelor thesis is to create comprehensive literature review about dog?s eyes inherited diseases. The thesis covers themes such as the diseases symptoms, cause of the diseases and diseases transmittion to the parent?s offspring.
KOPTOVÁ, Marcela
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SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Leber hereditary optic neuropathy (LHON) in a 6-year-old boy with a transient spinal cord lesion

The Turkish Journal of Pediatrics
Background. Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder that predominantly manifests as bilateral, painless vision loss in young males.
Anıl Gök, Gökçe Cırdı, Adnan Deniz, Ayfer Sakarya Güneş, Leman Tekin Orgun, Bülent Kara   +5 more
doaj   +1 more source

Recombinant Mitochondrial Transcription Factor A with N-terminal Mitochondrial Transduction Domain Increases Respiration and Mitochondrial Gene Expression in G11778A Leber's Hereditary Optic Neuropathy Cybrid Cells

, 2008
Diseases involving mitochondrial defects usually manifest themselves in high-energy, post-mitotic tissues such as brain, retina, skeletal and cardiac muscle and frequently cause deficiencies in mitochondrial bioenergetics.
James P. Bennett, Ravindar R. Thomas, Shilpa Iyer, Francisco R. Portell, Caitlin K. Quigley, Lisa D. Dunahm   +5 more
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RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Study of hereditary non-syndromic ophthalmic pathology of child population of the Karachay-Cherkess Republic: features and structure of nosological spectrum [PDF]

Клиническая офтальмология, 2019
V.V. Kadyshev1, A.V. Marakhonov1, S.I. Kutsev1,2, R.A. Zinchenko1,3 1 Research Centre of Medical Genetics of the Russian Academy of Medical Sciences, Moscow,  Russian Federation 2 Pirogov Russian National Research Medical University, Moscow ...
V.V. Kadyshev, A.V. Marakhonov, S.I. Kutsev, R.A. Zinchenko   +3 more
doaj  

The Role of Optical Coherence Tomography in an Atypical Case of Oculocutaneous Albinism: A Case Report

Case Reports in Ophthalmology, 2012
Background: Oculocutaneous albinism is a group of autosomal recessive disorders featuring hypopigmentation of the hair, skin and eyes. Ocular signs associated with the disease are nystagmus, decreased visual acuity, hypopigmentation of the retina, foveal
Settimio Rossi, Francesco Testa, Annagiusi Gargiulo, Valentina Di Iorio, Raffaella Brunetti Pierri, Francesco Maria D’Alterio, Michele Della Corte, Enrico Surace, Francesca Simonelli   +8 more
doaj   +1 more source

Heritable dog eye diseases

, 2013
Object and tasks of work: Object - analyse heritable eye dog diseases. Tasks: analyse literature about dog genetic eye diseases, heritability, clinical sighns; analyse incidence and spectrum of dog genetic eye diseases in different veterinary clinics ...
Valauskaitė, Giedrė
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