Results 1 to 10 of about 1,206,000 (137)

Novel Compound Heterozygous Mutations in Two Families With Bernard–Soulier Syndrome

Frontiers in Pediatrics, 2021
Background: Bernard–Soulier Syndrome (BSS) is a rare autosomal recessive bleeding disorder with large platelets and thrombocytopenia. It is caused by homozygous or compound heterozygous mutations in the GP1BA, GP1BB, or GP9 genes, which together encode ...
Milen Minkov, Milen Minkov, Milen Minkov, Petra Zeitlhofer, Andreas Zoubek, Leo Kager, Simon Panzer, Oskar A. Haas, Oskar A. Haas   +8 more
doaj   +1 more source

Myositis mimics

Indian Journal of Rheumatology, 2021
Proximal muscle weakness in children, as well as adults, can be the presenting feature of a wide range of diseases including but not limited to the idiopathic inflammatory myopathies, muscle dystrophies, metabolic, endocrine, and drug-induced myopathies.
Sujata Ganguly, Rudrarpan Chatterjee, Abhishek Zanwar, Latika Gupta   +3 more
doaj   +1 more source

Trio-Based Low-Pass Genome Sequencing Reveals Characteristics and Significance of Rare Copy Number Variants in Prenatal Diagnosis

Frontiers in Genetics, 2021
Background: Low-pass genome sequencing (GS) detects clinically significant copy number variants (CNVs) in prenatal diagnosis. However, detection at improved resolutions leads to an increase in the number of CNVs identified, increasing the difficulty of ...
Matthew Hoi Kin Chau, Matthew Hoi Kin Chau, Matthew Hoi Kin Chau, Jicheng Qian, Jicheng Qian, Zihan Chen, Ying Li, Ying Li, Ying Li, Yu Zheng, Yu Zheng, Wing Ting Tse, Yvonne K. Kwok, Yvonne K. Kwok, Tak Yeung Leung, Tak Yeung Leung, Tak Yeung Leung, Zirui Dong, Zirui Dong, Zirui Dong, Kwong Wai Choy, Kwong Wai Choy, Kwong Wai Choy, Kwong Wai Choy   +23 more
doaj   +1 more source

Case report of benign familial fleck retina

TNOA Journal of Ophthalmic Science and Research, 2022
Benign familial fleck Retina is a rare inherited retinal disease first reported by Sabel Aish and Dajani in 1980. It is an autosomal recessive condition associated with a distinctive retinal appearance with no apparent visual or electrophysiological ...
Nipun Bagrecha, M Prabhushanker, G Geetha, Nikulaa Parachuri   +3 more
doaj   +1 more source

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes [PDF]

, 2020
Background: Accurate interpretation of rare genetic variants is a challenge for clinical translation. Updates in recommendations for rare variant classification require the reanalysis and reclassification.
Abou Tayoun, Ackerman, Ackerman, Amendola, Bennett, Blekhman, Bombard, Campuzano, Chen, David, Denham, Dunn, Eilbeck, El Mecky, Harrison, Kobayashi, Lek, Macklin, Moreno, Priori, Richards, Richards, Semsarian, Smith, Tsai, Vears, Walsh, Wordsworth   +27 more
core   +1 more source

Suspected congenital hyperinsulinism in a Shiba Inu dog

Journal of Veterinary Internal Medicine, 2020
A 3‐month‐old male intact Shiba Inu dog was evaluated for a seizure disorder initially deemed idiopathic in origin. Seizure frequency remained unchanged despite therapeutic serum phenobarbital concentration and use of levetiracetam.
Simon Cook, Myles McKenna, Barbara Glanemann, Ranbir Sandhu, Chris Scudder   +4 more
doaj   +1 more source

Perception of inherited risk in type 2 diabetes: a systematic review

Frontiers in Public Health, 2023
IntroductionA family history is impacting the individual’s risk perception. The objective of this systematic review was to describe inherited risk perceptions of type 2 diabetes from the citizen’s viewpoint.
Elisa Airikkala, Elisa Airikkala, Mari Laaksonen, Mari Laaksonen, Arja Halkoaho, Marja Kaunonen, Marja Kaunonen   +6 more
doaj   +1 more source

Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders

Frontiers in Neurology, 2020
Introduction: Inherited myotonic disorders are genetically heterogeneous and associated with overlapping clinical features of muscle stiffness, weakness, and pain. Data on genotype-phenotype correlations are limited.
Alayne P. Meyer, Jennifer Roggenbuck, Samantha LoRusso, John Kissel, Rachel M. Smith, David Kline, W. David Arnold   +6 more
doaj   +1 more source

Familial reactive perforating collagenosis: A report of two cases

Indian Journal of Dermatology, 2014
Reactive perforating collagenosis (RPC) is a rare form of transepithelial elimination, in which genetically altered collagen is extruded through the epidermis. Of the acquired and inherited form, inherited form is extremely rare.
Varadraj V Pai, Kikkeri Narayanshetty Naveen, Sharatchandra Bhimrao Athanikar, Dinesh Udupi Shastri, Vijetha Rai   +4 more
doaj   +1 more source

Prediction of inherited genomic susceptibility to 20 common cancer types by a supervised machine-learning method. [PDF]

, 2018
Prevention and early intervention are the most effective ways of avoiding or minimizing psychological, physical, and financial suffering from cancer. However, such proactive action requires the ability to predict the individual's susceptibility to cancer
Kim, Byung-Ju, Kim, Sung-Hou
core   +2 more sources