Results 261 to 270 of about 178,713 (349)

The genetic landscape of primary malignant melanoma of the cervix using integrated bioinformatics analysis and whole-exome sequencing. [PDF]

Front Oncol
Zhou J, Xu T, Chen C, Ping Y.
europepmc   +1 more source

Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma

, 2017
Tiger Zhou, Emmanuelle Souzeau, Shiwani Sharma, John Landers, Richard Mills, Ivan Goldberg, Paul R. Healey, Stuart L. Graham, Alex W. Hewitt, David A. Mackey, Anna Galanopoulos, Robert J. Casson, Jonathan B. Ruddle, Jonathan Ellis, Paul Leo, Matthew A. Brown, Stuart MacGregor, David J. Lynn, Kathryn P. Burdon, Jamie E. Craig   +19 more
openalex   +2 more sources

Expanding the Genetic and Phenotypic Spectrum of DYT‐VPS16: The Importance of Splice‐Site Variants

Movement Disorders, EarlyView.
Abstract Background DYT‐VPS16, an early‐onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients. Methods We explored the clinical and genotypic spectrum of DYT‐VPS16 by investigating early‐onset dystonia patients with VPS16 variants discovered in our large Biodatabank and through gene‐matching ...
Ana Westenberger, Edgard Verdura, Mandy Radefeldt, Leslie E. Sanderson, Kornelia Tripolszki, Anna Marcé‐Grau, Ana Cazurro‐Gutiérrez, Anita Nikoncuk, Rebecca Herzog, Ruslan Al‐Ali, Mariana Ferreira, Ligia S. Almeida, Tainá Regina Damaceno Silveira, Suliman Khan, Raphael Doyle Maia, Péter Klivényi, András Salamon, Volkan Baltaci, Asli Subasioglu, Jeanette Prada‐Arismendy, Goran Čuturilo, Sebastian Loens, Vera Tadic, Isabelle Maystadt, Deniz Karadurmus, Barbara Leube, Jonathan De Winter, Alice Monticelli, Liesbeth De Waele, Jonathan Baets, Mateja Vinkšel, Aleš Maver, Lorena Tschopp, Gabriela Ziegler, Ana Sanguinetti, Katja Lohmann, Tahsin Stefan Barakat, Peter Bauer, Belén Perez‐Dueñas, Aida M. Bertoli‐Avella   +39 more
wiley   +1 more source

Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review

Fatimah Diana Amin Nordin, Affandi Omar, Balqis Kamarudin, Timothy Simpson, Julaina Abdul Jalil, Yuh Fen Pung   +5 more
openalex   +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

Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

Movement Disorders, EarlyView.
Abstract Background Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower‐limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP. Objective The objective of this study was to assess whether CPT1C loss‐of‐function (LOF) variants are causally associated with HSP.
Rui Zhu, Lang Liu, Mehrdad A. Estiar, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Grace Yoon, Mark Tarnopolsky, Kym M. Boycott, Nicolas Dupre, Patrick A. Dion, Oksana Suchowersky, Albena Jordanova, Yi‐Chung Lee, Giovanni Stevanin, Stephan Zuchner, Guy A. Rouleau, Ziv Gan‐Or   +17 more
wiley   +1 more source

BMP2 alterations in mucinous cystadenocarcinoma of the breast: insights from whole-exome sequencing. [PDF]

PeerJ
Li Z, Gong Y, Li G, Jiang Q, Dong J, Chen R.   +5 more
europepmc   +1 more source

Whole exome sequencing-based testing of adult epilepsy in a Polish population

Magdalena Mroczek, Dominika Szczęśniak, Karolina Ziora-Jakutowicz, Magdalena M. Kacprzak, Paweł Aleksandrowicz, Małgorzata Bednarska‐Makaruk, Lidia Kotuła   +6 more
openalex   +2 more sources

MOESM6 of Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer

, 2016
Vittoria Disciglio, Andrea Devecchi, Orazio Palumbo, Massimo Carella, Donata Penso, Massimo Milione, Giorgio Valle, Marco A. Pierotti, Marco Vitellaro, Lucio Bertario, Silvana Canevari, Stefano Signoroni, Loris De Cecco   +12 more
openalex   +1 more source

Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort

Movement Disorders, EarlyView.
Abstract Background Deep intronic GAA repeat expansions in intron 1 of the FGF14 gene were identified in 2023 as cause of late‐onset cerebellar ataxia. Since then, GAA‐FGF14‐related ataxia (SCA27B) has emerged as one of the most common genetic causes of late‐onset cerebellar ataxia.
Teije H. van Prooije, Maartje Pennings, Roderick P.P.W.M. Maas, Jeroen de Vries, Corien Verschuuren‐Bemelmans, Vincent Odekerken, Sirwan K.L. Darweesh, Mark Huisman, Mayke Oosterloo, Arthur Buijink, Jaron van de Wardt, Els Vanhoutte, Tsz Hang Wong, Lisette Koens, Eva de Boer, Judith van Gaalen, Martijn Beudel, Dareia S. Roos, Jorrit I. Hoff, Thimo Cornelissen, Meyke Schouten, Thatjana Gardeichik, Erica van der Looij, Christine Klein, Joanne Trinh, Erik‐Jan Kamsteeg, Bart van de Warrenburg   +26 more
wiley   +1 more source