Zobrazeno 1 - 10
of 251
pro vyhledávání: '"Donald R, Love"'
Autor:
Aljazi Al-Maraghi, Waleed Aamer, Mubarak Ziab, Elbay Aliyev, Najwa Elbashir, Sura Hussein, Sasirekha Palaniswamy, Dhullipala Anand, Donald R. Love, Adrian Charles, Ammira A.S.Akil, Khalid A. Fakhro
Publikováno v:
BMC Nephrology, Vol 25, Iss 1, Pp 1-7 (2024)
Abstract Background Renal tubular dysgenesis (RTD) is a severe disorder with poor prognosis significantly impacting the proximal tubules of the kidney while maintaining an anatomically normal gross structure. The genetic origin of RTD, involving vari
Externí odkaz:
https://doaj.org/article/de528bc7688d480ba9e4006bc299b114
Autor:
Jessie Poquérusse, Melinda Nolan, David R. Thorburn, Johan L. K. Van Hove, Marisa W. Friederich, Donald R. Love, Juliet Taylor, Christopher A. Powell, Michal Minczuk, Russell G. Snell, Klaus Lehnert, Emma Glamuzina, Jessie C. Jacobsen
Publikováno v:
JIMD Reports, Vol 64, Iss 3, Pp 223-232 (2023)
Abstract Disorders of mitochondrial function are a collectively common group of genetic diseases in which deficits in core mitochondrial translation machinery, including aminoacyl tRNA synthetases, are key players. Biallelic variants in the CARS2 gen
Externí odkaz:
https://doaj.org/article/4f5342b87e7f4e589989796569d7e800
Autor:
Graeme E. Glass, Shiyas Mohammedali, Bran Sivakumar, Mitchell A. Stotland, Faisal Abdulkader, Debra O. Prosser, Donald R. Love
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-10 (2022)
Abstract Background Möbius (Moebius) and Poland’s syndromes are two rare congenital syndromes characterized by non-progressive bilateral (and often asymmetric) dysfunction of the 6th and 7th cranial nerves and hypoplasia of the pectoral muscles as
Externí odkaz:
https://doaj.org/article/a506c4e37ec24c74b9b4a23c94b7a367
Publikováno v:
Sultan Qaboos University Medical Journal, Vol 19, Iss 4, Pp 324-334 (2019)
Objectives: Molecular diagnostic laboratories screen for mutations in disease-causing genes in order to confirm a clinical diagnosis. The classification of DNA variants as ‘pathogenic’ or ‘likely pathogenic’ mutations creates a workflow bottl
Externí odkaz:
https://doaj.org/article/f5c7e8a6784d4b2ea0c284d0fc452760
Autor:
Hariharan Raju, James S. Ware, Jonathan R. Skinner, Paula L. Hedley, Gavin Arno, Donald R. Love, Christian van der Werf, Jacob Tfelt-Hansen, Bo Gregers Winkel, Marta C. Cohen, Xinzhong Li, Shibu John, Sanjay Sharma, Steve Jeffery, Arthur A. M. Wilde, Michael Christiansen, Mary N. Sheppard, Elijah R. Behr
Publikováno v:
BMC Cardiovascular Disorders, Vol 19, Iss 1, Pp 1-10 (2019)
Abstract Background We aimed to determine the mutation yield and clinical applicability of “molecular autopsy” following sudden arrhythmic death syndrome (SADS) by validating and utilizing low-cost high-throughput technologies: Fluidigm Access Ar
Externí odkaz:
https://doaj.org/article/dcacc9ba179d4d699a6d0ada9f7f32ac
Autor:
Idris Mohammed, Sara Al‐Khawaga, David Bohanna, Abdusamea Shabani, Faiyaz Khan, Donald R. Love, Zafar Nawaz, Khalid Hussain
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 6, Pp n/a-n/a (2020)
Abstract Background There are few reports describing the proximal deletions of the short arm of chromosome 20, making it difficult to predict the likely consequences of these deletions. Most previously reported cases have described the association of
Externí odkaz:
https://doaj.org/article/59d47baf64dc47a1a4756abb5b814484
Autor:
Gina L. O'Grady, Alice Theadom, Miriam Rodrigues, Annemarei Ranta, Priya Parmar, Gemma Poke, Richard Roxburgh, Donald R. Love, Braden Te Ao, Kelly Jones, Graeme Hammond-Tooke
Publikováno v:
Quality of Life Research. 31:1657-1666
OBJECTIVES To determine the impact of genetic muscle disorders and identify the sociodemographic, illness, and symptom factors influencing quality of life. METHODS Adults (aged 16-90 years) with a confirmed clinical or molecular diagnosis of a geneti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::519820fc01256796798c277291892ef0
https://doi.org/10.1007/s11136-021-03046-2
https://doi.org/10.1007/s11136-021-03046-2
Publikováno v:
Sultan Qaboos University Medical Journal, Vol 15, Iss 2, Pp 218-225 (2015)
Objectives: Missense variants are very commonly detected when screening for mutations in the BRCA1 and BRCA2 genes. Pathogenic mutations in the BRCA1 and BRCA2 genes lead to an increased risk of developing breast, ovarian, prostate and/or pancreatic
Externí odkaz:
https://doaj.org/article/c03d8bacd1a84d3ea544f9a318c91f2c
Publikováno v:
Sultan Qaboos University Medical Journal, Vol 15, Iss 1, Pp 58-70 (2015)
Objectives: Screening for mutations in large genes is challenging in a molecular diagnostic environment. Sanger-based DNA sequencing methods are largely used; however, massively parallel sequencing (MPS) can accommodate increasing test demands and fi
Externí odkaz:
https://doaj.org/article/a1d4254ea214427f8cff6ff9ae087722
Publikováno v:
Medical Sciences, Vol 2, Iss 2, Pp 98-126 (2014)
Sudden cardiac death in people between the ages of 1–40 years is a devastating event and is frequently caused by several heritable cardiac disorders. These disorders include cardiac ion channelopathies, such as long QT syndrome, catecholaminergic p
Externí odkaz:
https://doaj.org/article/48d267469f6a4c5c9abb8d6696917eb9