Results 251 to 260 of about 1,861,621 (385)

Somatic mutations in STAG2 are associated with separated megakaryocyte nuclear lobes in myelodysplastic syndromes. [PDF]

Blood Adv
Wong WJ, Zon RL, Gibson CJ, Ho C, Pozdnyakova O, Neuberg D, Battinelli EM, Luskin MR, Tothova Z, Morgan EA, Ebert BL.   +10 more
europepmc   +1 more source

Somatic mutations and clonal hematopoiesis in congenital neutropenia.

Blood, 2018
Jun Xia, Christopher A. Miller, J. Baty, Amrita Ramesh, M. Jotte, R. Fulton, T. Vogel, M. Cooper, K. Walkovich, Vahagn Makaryan, A. Bolyard, M. Dinauer, D. Wilson, A. Vlachos, K. Myers, R. Rothbaum, A. Bertuch, D. Dale, A. Shimamura, L. Boxer, D. Link   +20 more
semanticscholar   +1 more source

Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian, Peter Auguste, Amy Grove, Anna Brown, Janette Parr, Mubarak Patel, Furqan Butt, Jeremiah Donoghue, Mehdi Yousefi, Jo Parsons   +9 more
wiley   +1 more source

Genomic landscape of radiation-induced somatic mutations in a normal cell. [PDF]

Carcinogenesis
Matsuda Y, Tanabe O.
europepmc   +1 more source

Mutated ASXL1 and number of somatic mutations as possible indicators of progression to chronic myelomonocytic leukemia of myelodysplastic syndromes with single or multilineage dysplasia [PDF]

, 2017
Ana Valencia-Martinez, Alessandro Sanna, Erico Masala, Elisa Contini, Alice Brogi, Antonella Gozzini, Valeria Santini   +6 more
openalex   +1 more source

Short Somatic Mutation [PDF]

, 2020
openaire   +1 more source

An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco, Caterina Motta, Enrica Marchionni, Maria Rosaria D'Apice, Carlangelo Carrese, Giuseppe Novelli, Alessandro Martorana, Chiara Giuseppina Bonomi   +7 more
wiley   +1 more source

Loss of Y chromosome in Alzheimer's patients co-occurs with somatic mutations beyond CHIP drivers. [PDF]

Life Sci Alliance
Rychlicka-Buniowska E, Sarkisyan D, Horbacz M, Bruhn-Olszewska B, Drężek-Chyła K, Koszyński M, Davies H, Juhas U, Wójcik-Zalewska M, Klich-Rączka A, Kilander L, Ingelsson M, Bukowska-Strakova K, Węglarczyk K, Siedlar M, Baran J, Ryś J, Piotrowski A, Filipowicz N, Dumanski JP.   +19 more
europepmc   +1 more source

Accurate detection of somatic mutations in single cells by scNanoSeq v1 [PDF]

Muchun Niu, Yang Zhang, Jiayi Luo, Chenghang Zong   +3 more
openalex   +1 more source

Evidence that multiple myeloma Ig heavy chain VDJ genes contain somatic mutations but show no intraclonal variation [PDF]

, 1992
MH Bakkus, Carlo Heirman, Ivan Van Riet, B Van Camp, K Thielemans   +4 more
openalex   +1 more source