Results 271 to 280 of about 178,713 (349)

Whole-exome sequencing for identification of specific gene mutations in an Indian cohort of triple-negative breast cancer patients. [PDF]

Discov Oncol
Preeti P, Das AM, Kumar P, Gogia A, Kumar L, Deo SVS, Mathur S, Janardhanan R, Rawal K, Garg M, Das BC.   +10 more
europepmc   +1 more source

Electrophysiological Changes in Pediatric Spinal Muscular Atrophy: Results From an Observational Study

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Previous studies of children with spinal muscular atrophy (SMA) have focused on the ulnar and median nerves, while lower‐limb and proximal motor nerves remain insufficiently characterized. This study aimed to evaluate compound muscle action potential (CMAP) amplitudes in upper‐ and lower‐limb motor nerves in children with SMA
Ruidi Sun, Jing Wang, Jie Han, Jun Jiang, Jiajun Wu, Xue Chen, Xiaolong Deng, Chunquan Cai, Dan Sun   +8 more
wiley   +1 more source

A New Phenotype–Genotype Correlation for FIG4 and Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Iro Boura, Panayiotis Mitsias, Sofia Erimaki, Efrosini Papadaki, Cleanthe Spanaki   +4 more
wiley   +1 more source

Exploration of Therapeutic Targets Using CDK4 Inhibitors for Head and Neck Mucosal Melanoma

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective Mucosal melanoma (MM) is an extremely aggressive malignant tumor in the head and neck region associated with a poor prognosis. In the present study, we conducted cell proliferation assay and western blotting using cell lines derived from MM and the immunohistochemical analysis of pathological MM tissues to identify novel therapeutic ...
Takayoshi Hattori, Makiko Fujii, Tsutomu Ueda, Akira Ishikawa, Yuichi Mine, Bingwen Xu, Tomoya Suehiro, Minoru Hattori, Hiroaki Tahara, Yuki Sato, Nobuyuki Chikuie, Takayuki Taruya, Takao Hamamoto, Takashi Ishino, Sachio Takeno   +14 more
wiley   +1 more source

Identification of Variants in Four Families With Inherited Eye Disorders by Whole Exome Sequencing. [PDF]

Mol Genet Genomic Med
Jarral A, Basharat R, Sajid S, Arshad K, Ali I, Ansar M.   +5 more
europepmc   +1 more source

Huntington's Disease‐like Syndrome as a Rare Presentation of CACNA1A‐Related Disorder

Movement Disorders Clinical Practice, EarlyView.
Petros Boumis, Constantin Potagas, Christos Koros, Vasilios Constantinides, Nikolaos Ragazos, Chrysoula Koniari, Stavroula Aristeidou, Chrisoula Kartanou, Emmanouela Linardaki, Nektarios Tavernarakis, Evangelos Anagnostou, Leonidas Stefanis, Socratis Papageorgiou, Georgia Karadima, Georgios Koutsis   +14 more
wiley   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

The evolution of prenatal Whole Exome Sequencing: from cytogenetics to precision medicine. [PDF]

Arch Clin Cases
Săbău ID, Bohîlţea LC, Varlas V, Gheorghe AS, Riza M, Suciu N, Ceauşu I.   +6 more
europepmc   +1 more source

Global Delivery of Foetal Sequencing: Do We Need Some Standardisation?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The development of sequencing technologies has resulted in rapid expansion in the testing available for foetuses with structural anomalies to diagnose monogenic disorders. To understand the variability in how foetal sequencing services are delivered, we developed a survey that focussed on the scope of testing, any parallel testing ...
Natalie J. Chandler, Zandra C. Deans
wiley   +1 more source