Results 271 to 280 of about 183,311 (355)

Whole-exome sequencing for the genetic diagnosis of early-onset high myopia and associated hereditary eye disorders. [PDF]

BMC Med Genomics
Han C, Wu S, Yang Y, Yang X, Li H.
europepmc   +1 more source

Whole exome sequencing of patients with diffuse idiopathic skeletal hyperostosis and calcium pyrophosphate crystal chondrocalcinosis.

, 2021
Bruna Parreira, Ana Rita Couto, Fabiana Rocha, Madalena Sousa, Vanessa Faustino, Deborah M. Power, Jácome Bruges‐Armas   +6 more
openalex   +1 more source

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer, Salomón Páez‐García, Santiago Martínez, Jacobo Ramírez‐Triana, Kevin O'Hara‐Veintimilla, Andrés Ricaurte‐Fajardo, Catalina Cerquera‐Cleves   +6 more
wiley   +1 more source

Determining Genetic Cause of Posterior Staphylomas in Eyes with Pathologic Myopia by Whole Exome Sequencing. [PDF]

Ophthalmol Sci
Wang Z, Chen C, Wu Y, Nagata Y, Tanaka T, Xie S, Lu H, Wang Y, Xiong J, Zhang L, Kamoi K, Ohno-Matsui K.   +11 more
europepmc   +1 more source

Genome Variation in Alcohol Use Disorder by Whole-Exome Sequencing. [PDF]

Addict Biol
Liu L, Zhang B, Dong Y, Liu LP, Wang JY, Liu J, Zhou GY, Kang CY, Hu X, Cheng C, Zhao N, Lu J, Wang H, Hu J, Wang X.   +14 more
europepmc   +1 more source

Bullae and Scales in a Newborn

JEADV Clinical Practice, EarlyView.
Hamad El Hajj, Dima Jeha, Andre Megarbane, Hala Megarbane   +3 more
wiley   +1 more source

Whole exome sequencing of 20 patients with pulmonary hypertension caused by fibrosing mediastinitis. [PDF]

Chin Med J (Engl)
Li B, Liu S, Zhang J, Song J, Su H, Li Y, Tang A, Zhao Y, Gao T, Liu H, Zhang M, Zhang Y, Cao Y.   +12 more
europepmc   +1 more source

Diabetic Peripheral Neuropathy: Molecular Staging, Risk Factors, Therapeutics, and Emerging Trends

Med Research, EarlyView.
The heterogeneous landscape of DPN can be unified through a tripartite pathogenic model encompassing progressive stages of metabolic dysregulation, chronic inflammation, and overt neuronal damage. Within this framework, six clinical subtypes were identified, namely, hyperglycemia‐driven, dyslipidemia‐driven, inflammation‐driven, dysvascularity‐driven ...
Xiaofeng Dai, Mingze Tang
wiley   +1 more source

Whole-Exome Sequencing Identifies Novel Genetic Variants Associated with Unexplained Neurodevelopmental Disorders in Children. [PDF]

Int J Mol Sci
Mancuso G, Serventi L, Cocco C, Lai F, Soddu C, Marica M, Mereu C, Lorrai M, Tosone GM, Cannas F, Nutile G, Floris M, Savasta S, Giglio S.   +13 more
europepmc   +1 more source