Results 111 to 120 of about 124,431 (304)

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas

, 2014
Background Genetic testing is recommended when the probability of a disease-associated germline mutation exceeds 10%. Germline mutations are found in approximately 25% of individuals with phaeochromcytoma (PCC) or paraganglioma (PGL); however, genetic ...
Clifton-Bligh, Roderick, Leo, Paul J., Duncan, Emma L., Benn, Diana E., Brown, Matthew A., Gardiner, Brooke, Robinson, Bruce G., Clifton-Bligh, Roderick J., Marshall, Mhairi S., McInerney-Leo, Aideen M., McFarlane, Janelle   +10 more
core   +1 more source

Whole-exome-sequencing dataset VACTERL

, 2022
The dataset contains the whole-exome sequencing data for 21 patients (anonymized) with VACTERL association, and of three pair of parents. These data may only be used for better understanding of associated publications.
Ritter, J (via Mendeley Data)
core   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Evaluation of potential of targeted sequencing through mutational signature simulation.

PLoS ONE
BackgroundTargeted sequencing is critical in cancer diagnosis, treatment selection, and monitoring. However, the effectiveness of these methods for reflecting whole-exome sequencing (WES)-level mutational signatures remains unclear.
Keisuke Kodama, Yiwei Ling, Hiroshi Ichikawa, Toshifumi Wakai, Shujiro Okuda   +4 more
doaj   +1 more source

A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome. [PDF]

Whole genome sequencing (WGS) at high-depth (30X) allows the accurate discovery of variants in the coding and non-coding DNA regions and helps elucidate the genetic underpinnings of human health and diseases.
Schindewolf, Marc, Bourque, Guillaume, Bader Asbah, Nimara, Baumgartner, Iris, Mooser, Vincent, Taliun, Daniel, St-Cyr, Janick, Paccard, Antoine, Ragoussis, Ioannis, Perley, Danielle, Bourgey, Mathieu, Caron, Elizabeth, Nadukkalam Ravindran, Praveen, Lefebvre, François, McClelland, Peyton, Döring, Yvonne, Eveleigh, Robert, Trajanoska, Katerina, Ragoussis, Jiannis, Bhérer, Claude, Wei, Clare, Lepage, Pierre   +21 more
core   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Whole‐exome sequencing as a diagnostic tool for distal renal tubular acidosis

Jornal de Pediatria (Versão em Português), 2015
Objective: Distal renal tubular acidosis (dRTA) is characterized by metabolic acidosis due to impaired renal acid excretion. The aim of this study was to demonstrate the genetic diagnosis of four children with dRTA through use of whole‐exome sequencing ...
Paula Cristina Barros Pereira, Flávia Medeiros Melo, Luiz Armando Cunha De Marco, Eduardo Araújo Oliveira, Débora Marques Miranda, Ana Cristina Simões e Silva   +5 more
doaj   +1 more source

Whole exome sequencing of multiple meningiomas with varying histopathological presentation in one patient revealed distinctive somatic mutation burden and independent clonal origins

, 2019
Han-Song Sheng,1 Fang Shen,2 Nu Zhang,1 Li-Sheng Yu,1 Xiang-Qi Lu,1 Zhe Zhang,1,3 Huang-Yi Fang,1,3 Ling-Li Zhou,4 Jian Lin11Department of Neurosurgery, Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, People’s Republic of China ...
Yu LS, Sheng HS, Lu XQ, Zhang Z, Zhou LL, Zhang N, Fang HY, Lin J, Shen F   +8 more
core  

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams, Kristian Divin, Lindsay C. Burrage, William J. Craigen, Fernando Scaglia, Claudia Soler‐Alfonso, V. Reid Sutton, Kevin E. Glinton, Ronit Marom   +8 more
wiley   +1 more source