Results 231 to 240 of about 9,837,393 (260)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Copy Number Variant Duplications Associated with Essential Tremor. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Medeiros M, Liao C, Dilliott AA, Ross JP, Vuokila V, Aboasali F, Castonguay CE, Spiegelman D, Hopfner F, Vilariño-Güell C, García-Martín E, Alonso-Navarro H, Agúndez JAG, Jiménez-Jiménez FJ, Pastor P, Rajput A, Rajput A, Deuschl G, Kuhlenbäumer G, Girard SL, Farhan SMK, Dion PA, Rouleau GA.   +22 more
europepmc   +1 more source

PRKCI-ECT2 copy number gain promotes developmental reprogramming and metastatic competence in lung adenocarcinoma. [PDF]

Cell Rep
Nguyen DT, Meneses KM, Zhang C, Prieto LI, Weems C, Jamieson L, Li H, Baker DJ, Khoor A, Murray NR, Justilien V, Fields AP.   +11 more
europepmc   +1 more source

Copy number variants in BRCA1 and BRCA2 genes in Polish patients with breast and ovarian cancer. [PDF]

J Cancer Res Clin Oncol
Doraczynska-Kowalik A, Matkowski R, Michalowska D, Chrusciel A, Semeniuk M, Blomka D, Lawicka P, Czykalko E, Abrahamowska M, Pietron A, Janus-Szymanska G, Pawlak I, Maciejczyk A, Szelachowska J, Laczmanska I.   +14 more
europepmc   +1 more source

Association of cord blood mitochondrial DNA heteroplasmy and copy number with childhood overweight or obesity. [PDF]

Int J Obes (Lond)
Qu X, Wang G, Hong X, An J, Vernon HJ, Wang X.   +5 more
europepmc   +1 more source

Systematic mapping and in silico reevaluation of genomic copy number variations in primary ovarian insufficiency.

J Clin Endocrinol Metab
Hossein Garakani M, Kakavand K, Hajiesmaeili Y, Haratian K, Z Moradi M, Zarei Moradi S, Mohseni Meybodi A.   +6 more
europepmc   +1 more source

Chromosomal abnormalities and copy number variations in fetuses with ventriculomegaly: a multicenter retrospective study. [PDF]

Mol Cytogenet
Nguyen AHD, Tran PD, Dinh PH, Dao TT, Nguyen NTM, Luong ATL, Hoang LTN, Doan PTK, Mai HT, Dinh LT, Pham VT, Phan GTT, Bui TD, Tran LT, Tran CD.   +14 more
europepmc   +1 more source

Copy number variant association analysis in 94,730 Chinese adults reveals loci influencing anthropometric and cardiometabolic traits

Howard I, Millwood IY, Morris S, Lin K, Avery D, Yu C, Lv J, Sun D, Pei P, Li L, Chen J, Chen Z, Walters RG, Bragg F, Bennett D.   +14 more
europepmc   +1 more source