Results 121 to 130 of about 980,295 (345)

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

Clinical Genetics, EarlyView.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald, Amelle Shillington, Farrah Jackson, Jaime Lopes, Casey J. Brewer, Brian Dawson, Gang Wu, James Denton, Mike Pauciulo, Xue Zhang, Anne Slavotinek   +10 more
wiley   +1 more source

Defective Artemis causes mild telomere dysfunction [PDF]

, 2010
This article has been made available through the Brunel Open Access Publishing Fund.Background: Repair of DNA double strand breaks by non-homologous end joining (NHEJ) requires several proteins including Ku, DNA-PKcs, Artemis, XRCC4, Ligase IV and XLF ...
Slijepcevic, P, Yasaei, H
core   +3 more sources

Karyotype diversity between species of Crenicichla (Perciformes, Cichlidae) from different Brazilian hydrographic basins

Genetics and Molecular Biology, 2019
Crenicichla is the largest genus in the Cichlidae family in South America. The genus includes 100 valid species that are popularly known in Brazil as jacundás or joaninhas and are widely distributed in rivers east of the Andes.
Larissa Bettin Pires, Mariana Campaner Usso, Lucia Giuliano-Caetano, Ana Lúcia Dias   +3 more
doaj   +1 more source

Improvements in Real‐World Survival in the Setting of a Recent Paradigm Shift in Acute Myeloid Leukemia Treatment

European Journal of Haematology, EarlyView.
ABSTRACT Therapeutic options for newly diagnosed (ND) acute myeloid leukemia (AML) have increased in recent years, leading to a shift in the treatment paradigm from conventional, intensive chemotherapy toward targeted and less intensive therapy. Since 2017, there has been a surge in FDA approvals for novel therapies, including small molecule inhibitors
Thuy N. Ho, Patrick Willard, Graeme F. Murray, Li Liu, Nolan Wages, Hyun Lee, Keri R. Maher   +6 more
wiley   +1 more source

A lethal effect associated with polymorphism of the NOR-bearing chromosomes in rainbow trout (Oncorhynchus mykiss)

Genetics and Molecular Biology, 2004
Cytogenetic analysis of a rainbow trout stock showed that the nucleolar organizing regions were located subterminally on the long arm of a submetacentric chromosome pair and occurred as a single chromosomal segment (phenotype N1) or as two chromosomal ...
Fábio Porto-Foresti, Claudio Oliveira, Eduardo A. Gomes, Yara A. Tabata, Marcos G. Rigolino, Fausto Foresti   +5 more
doaj   +1 more source

Characterization of a Rare Mosaicism in Autosomal Translocation of t(5;21) Using Conventional Cytogenetics and FISH Methods [PDF]

, 2019
Sadaf Omori Sarabi, Javad Karimzad Hagh, Claudia Behrend, Seyed Behrooz Mohseni, Mitra Ansari Dezfouli, Seyed Khalil Rashidi, Mir Davood Omrani, Mir Davood Omrani   +7 more
openalex   +1 more source

Survival and Renal Recovery in Newly Diagnosed Multiple Myeloma Patients Presenting With Dialysis‐Requiring Severe Renal Impairment

European Journal of Haematology, EarlyView.
ABSTRACT Background Severe renal insufficiency requiring dialysis in newly diagnosed multiple myeloma (NDMM) patients has been independently associated with poor survival outcomes. However, there is a paucity of data on factors predicting renal recovery and survival outcomes of these patients.
Rintu Sharma, Eshetu G. Atenafu, Esther Masih‐Khan, Harjot Vohra, Sita Bhella, Christine Chen, Vishal Kukreti, Guido Lancman, Anca Prica, A. Keith Stewart, Rodger Tiedemann, Suzanne Trudel, Chloe Yang, Donna Reece   +13 more
wiley   +1 more source

Characterization of a ring chromossome 22 by molecular cytogenetics [PDF]

Einstein (São Paulo), 2003
Objectives: To characterize a ring chromosome 22 by means ofmolecular cytogenetics in a girl with retarded neuropsychomotordevelopment and dysmorphic features.
Cleide Largman Borovik, Roberto Muller, Ana Lucia Demarchi, Abram Topczewski, Luci Black Tabacow Hidal, Érica Santos, Veruska Regina Gava Addesso, Nydia Strachman Bacal, Marcelo Henrique Wood Faulhaber, Sulim Abramovici   +9 more
doaj  

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source

Evolutionary cytogenetics of the Hoplias lacerdae, Miranda Ribeiro, 1908 group: a particular pathway concerning the other Erythrinidae fish [PDF]

, 2007
Sandra Morelli, Marcelo Ricardo Vicari, LAC. Bertollo   +2 more
openalex   +1 more source