Results 91 to 100 of about 259,547 (354)

Whole exome sequence analysis of Peters anomaly [PDF]

Human Genetics, 2014
Peters anomaly is a rare form of anterior segment ocular dysgenesis, which can also be associated with additional systemic defects. At this time, the majority of cases of Peters anomaly lack a genetic diagnosis. We performed whole exome sequencing of 27 patients with syndromic or isolated Peters anomaly to search for pathogenic mutations in currently ...
Natalie Hauser, Patricia G. Wheeler, Elena V. Semina, Karen L. David, Eric Weh, Alex V. Levin, Linda M. Reis, Brad Angle, Erin Carney, Hannah Happ   +9 more
openaire   +3 more sources

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

Another Set of Sequences, Sub-Sequences, and Sequences of Sequences [PDF]

arXiv, 2000
In this paper 101 new integer sequences, sub-sequences, and sequences of sequences, together with related unsolved problems and conjectures, are presented. Also, definitions, examples, solved or open questions, and references for each sequence are given.
arxiv  

Integer Sequences: Irregular Arrays and Intra-Block Permutations [PDF]

arXiv, 2023
This article investigates integer sequences that partition the sequence into blocks of various lengths - irregular arrays. The main result of the article is explicit formulas for numbering of irregular arrays. A generalization of Cantor diagonal method is proposed. We also define and describe intra-block permutations of natural numbers. Generalizations
arxiv  

A Pilot Study Comparing HPV-Positive and HPV-Negative Head and Neck Squamous Cell Carcinomas by Whole Exome Sequencing. [PDF]

, 2012
Background. Next-generation sequencing of cancers has identified important therapeutic targets and biomarkers. The goal of this pilot study was to compare the genetic changes in a human papillomavirus- (HPV-)positive and an HPV-negative head and neck ...
Barrett, John W, Basmaji, John, Boutros, Paul, Chan-Seng-Yue, Michelle, Dhaliwal, Sandeep, Dowthwaite, Samuel, Franklin, Jason H, Fung, Kevin, Koropatnick, James, Kwan, Keith, Lambin, Philippe, Mymryk, Joe S, Nichols, Anthony C, Palma, David A, Starmans, Maud HW, Szeto, Christopher CT, Todorovic, Biljana, Wehrli, Bret, Xu, Wei, Yoo, John   +19 more
core   +3 more sources

Whole-exome sequencing in evaluation of patients with venous thromboembolism [PDF]

Blood Advances, 2017
Key PointsUsing WES, we designed an extended thrombophilia panel consisting of 55 genes of significance to thrombosis. The extended thrombophilia panel identified multiple novel genetic variants with predicted roles in thrombosis or thrombophilia.
Lee, Eun-Ju, Dykas, Daniel J, Leavitt, Andrew D, Camire, Rodney M, Ebberink, Eduard H T M, García de Frutos, Pablo, Gnanasambandan, Kavitha, Gu, Sean X, Huntington, James A, Lentz, Steven R, Mertens, Koen, Parish, Christopher R, Rezaie, Alireza R, Sayeski, Peter P, Cromwell, Caroline, Bar, Noffar, Halene, Stephanie, Neparidze, Natalia, Parker, Terri L, Burns, Adrienne J, Dumont, Anne, Yao, Xiaopan, Chaar, Cassius Iyad Ochoa, Connors, Jean M, Bale, Allen E, Lee, Alfred Ian   +25 more
openaire   +7 more sources

Relationship of cognitive decline with glucocerebrosidase activity and amyloid‐beta 42 in DLB and PD

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Dementia with Lewy bodies (DLB) and Parkinson's disease (PD) share clinical, pathological, and genetic risk factors, including GBA1 and APOEε4 mutations. Biomarkers associated with the pathways of these mutations, such as glucocerebrosidase enzyme (GCase) activity and amyloid‐beta 42 (Aβ42) levels, may hold potential as predictive ...
Maria Camila Gonzalez, Linn Oftedal, Johannes Lange, Diego Alejandro Tovar‐Rios, Ole‐Bjørn Tysnes, Claire Paquet, Marta Marquié, Mercè Boada, Daniel Alcolea, Konrad Rejdak, Ewa Papuc, Jakub Hort, Cristian Falup‐Pecurariu, Dag Aarsland, Guido Alves, Jodi Maple‐Grødem   +15 more
wiley   +1 more source

LINC00323 variant is associated with increased risk of essential tremor

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Essential tremor (ET) is a common adult movement disorder, with accumulating evidence suggesting that genetic factors primarily account for ET risk. However, replication studies on the genetic variants have yielded inconsistent results. In our case–control study, we show that the LINC00323 variant, identified in a European GWAS study, is ...
Brendan Tan, Ebonne Ng, Qiao Yang Sun, Aaron Mai, Ling‐Ling Chan, Thomas Welton, Kumar M. Prakash, Kay Yaw Tay, Wing Lok Au, Louis C.S. Tan, Eng‐King Tan, Bin Xiao   +11 more
wiley   +1 more source

Identities for second order recurrence sequences [PDF]

arXiv, 2018
We derive several identities for arbitrary homogeneous second order recurrence sequences with constant coefficients. The results are then applied to present a unified study of six well known integer sequences, namely the Fibonacci sequence, the sequence of Lucas numbers, the Jacobsthal sequence, the Jacobsthal-Lucas sequence, the Pell sequence and the ...
arxiv  

Interleaved sequences of geometric sequences binarized with Legendre symbol of two types [PDF]

, 2017
A pseudorandom number generator is widely used in cryptography. A cryptographic pseudorandom number generator is required to generate pseudorandom numbers which have good statistical properties as well as unpredictability. An m-sequence is a linear feedback shift register sequence with maximal period over a finite field.
arxiv   +1 more source