Results 21 to 30 of about 202,059 (264)

Mosaicism in BRPF1-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review

Case Reports in Genetics, 2023
Bromodomain and PHD finger containing 1 (BRPF1)-related neurodevelopmental disorder is characterized by intellectual disability, developmental delay, hypotonia, dysmorphic facial features, ptosis, and blepharophimosis.
Khaliunaa Bayanbold, Georgianne Younger, Benjamin Darbro, Alpa Sidhu   +3 more
doaj   +1 more source

Pathogenic Variants of Urolithiasis

Pediatrician (St. Petersburg), 2017
The essence of Urolithiasis - one of the oldest diseases known by the mankind - is still not understood completely. For a long time the comprehension of Urolithiasis was based on matrix, colloid, ionic, inhibitory and precipitation theories. In these cases it was impossible to single out separate pathogenetic patterns.
Petr S Baketin, Rashid A Mollaev, Denis A Mazurenko, Vladislav E Grigoryev, Nariman K Gadzhiev, Vladimir M Obidnyak, Alexey V Pisarev, Nair S Tagirov, Vigen A Malkhasyan, Sergey B Petrov, Sergei V Popov   +10 more
openaire   +2 more sources

Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences

Hereditary Cancer in Clinical Practice, 2021
Background CHEK2 has been recognized as a breast cancer risk gene with moderate effect. Women who have previously tested negative for a BRCA1/2 gene germline pathogenic variant may benefit from additional genetic testing for the CHEK2 c.1100del ...
Mary E. Velthuizen, Rob B. van der Luijt, Beja J. de Vries, Marco J. Koudijs, Eveline M. A. Bleiker, Margreet G. E. M. Ausems   +5 more
doaj   +1 more source

Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome

Case Reports in Genetics, 2017
Loeys-Dietz syndrome (LDS) is a connective tissue disorder characterized by vascular findings of aneurysm and/or dissection of cerebral, thoracic, or abdominal arteries and skeletal findings.
Michael T. Zimmermann, Raul A. Urrutia, Patrick R. Blackburn, Margot A. Cousin, Nicole J. Boczek, Eric W. Klee, Colleen Macmurdo, Paldeep S. Atwal   +7 more
doaj   +1 more source

Comparison of Pathogenicity Prediction Tools on Somatic Variants [PDF]

The Journal of Molecular Diagnostics, 2020
Genomic sequencing is increasingly used in managing patients with cancer. Interpretation of somatic variants and their pathogenicity is often complex. Pathogenicity prediction tools are commonly used as part of the expert interpretation of somatic variants, but most of these tools were initially developed for germline variants. Our aim was to benchmark
Suybeng, Voreak, Koeppel, Florence, Harlé, Alexandre, Rouleau, Etienne   +3 more
openaire   +3 more sources

Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2

PLoS ONE, 2023
There have been many surveys of genetic variation in BRCA1 and BRCA2 to identify variant prevalence and catalogue population specific variants, yet none have evaluated the magnitude of unobserved variation.
Nandana D. Rao, Brian H. Shirts
doaj   +2 more sources

A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling

Molecular Genetics & Genomic Medicine, 2020
Background Isomerism or heterotaxy syndrome is the loss of normal asymmetry of the internal thoraco‐abdominal organs in the left‐right axis and is associated with cardiovascular malformations.
Amirpouyan Namavarian, Anas Eid, Elaine Suk‐Ying Goh, Varsha Thakur   +3 more
doaj   +1 more source

Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience

Frontiers in Oncology, 2023
Genomic profiling to identify myeloid-malignancy-related gene mutations is routinely performed for patients with suspected or definite myeloid malignancies.
Hui-Lin Chin, Hui-Lin Chin, Joyce Ching Mei Lam, Joyce Ching Mei Lam, Dheepa Christopher, Dheepa Christopher, Poon Limei Michelle, Benedict Yan Junrong   +7 more
doaj   +1 more source

On Variant Discovery in Genomes of Fungal Plant Pathogens [PDF]

Frontiers in Microbiology, 2020
Comparative genome analyses of eukaryotic pathogens including fungi and oomycetes have revealed extensive variability in genome composition and structure. The genomes of individuals from the same population can exhibit different numbers of chromosomes and different organisation of chromosomal segments, defining so-called accessory compartments that ...
Lizel Potgieter, Lizel Potgieter, Alice Feurtey, Julien Y. Dutheil, Eva H. Stukenbrock, Eva H. Stukenbrock   +5 more
openaire   +7 more sources

A genetic variant in telomerase reverse transcriptase (TERT) modifies cancer risk in Lynch syndrome patients harbouring pathogenic MSH2 variants

Scientific Reports, 2021
Individuals with Lynch syndrome (LS), have an increased risk of developing cancer. Common genetic variants of telomerase reverse transcriptase (TERT) have been associated with a wide range of cancers, including colorectal cancer (CRC) in LS.
Mariann Unhjem Wiik, Tiffany-Jane Evans, Sami Belhadj, Katherine A. Bolton, Dagmara Dymerska, Shantie Jagmohan-Changur, Gabriel Capellá, Grzegorz Kurzawski, Juul T. Wijnen, Laura Valle, Hans F. A. Vasen, Jan Lubinski, Rodney J. Scott, Bente A. Talseth-Palmer   +13 more
doaj   +1 more source