Results 141 to 150 of about 42,553 (305)

Global Delivery of Foetal Sequencing: Do We Need Some Standardisation?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The development of sequencing technologies has resulted in rapid expansion in the testing available for foetuses with structural anomalies to diagnose monogenic disorders. To understand the variability in how foetal sequencing services are delivered, we developed a survey that focussed on the scope of testing, any parallel testing ...
Natalie J. Chandler, Zandra C. Deans
wiley   +1 more source

Ribosomal DNA Instability as a Potential Cause of Karyotype Evolution. [PDF]

Mol Biol Evol, 2022
Li D, Gandhi D, Kumon T, Yamashita YM.
europepmc   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Genome assembly of Polygala tenuifolia provides insights into its karyotype evolution and triterpenoid saponin biosynthesis. [PDF]

Hortic Res, 2023
Meng F, Chu T, Feng P, Li N, Song C, Li C, Leng L, Song X, Chen W.   +8 more
europepmc   +1 more source

Loxodontomys pikumche (Rodentia, Cricetidae): nueva especie para Argentina [PDF]

, 2009
We report the first record of occurrence of Loxodontomys pikumche Spotorno et al., 1998, in the Central Andes of Argentina. We briefly describe external characters, skull, karyotype, and habitat; also, we provide general comparisons with the other known ...
Novillo, Agustina, Ojeda, Agustina Alejandra, Ojeda, Ricardo Alberto   +2 more
core  

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

THE KARYOTYPE OF THE ABERRANT OBLIGATE ANTATTENDED MEALYBUG, NEOCHAVESIA CALDASIAE (COCCOIDEA: PSEUDOCOCCIDAE: RHIZOECINAE)

Caldasia, 2004
We report information about the structure of the karyotype of the ant-attendedmealybug Neochavesia caldasiae that maintains an obligate association with antsof the genus Acropyga.
DELABIE J. H. C., MARIANO C.S.F., SERRÃO J.E., POMPOLO S.G.   +3 more
doaj  

Karyotype evolution of the Asterids insights from the first genome sequences of the family Cornaceae. [PDF]

DNA Res, 2023
Dong C, Wang S, Zhang H, Liu J, Li M.
europepmc   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Karyotype Evolution in Triatominae (Hemiptera, Reduviidae): The Role of Chromosomal Rearrangements in the Diversification of Chagas Disease Vectors. [PDF]

Int J Mol Sci, 2023
Reis YVD, de Oliveira J, Madeira FF, Ravazi A, Oliveira ABB, Bittinelli IDS, Delgado LMG, de Azeredo-Oliveira MTV, Rosa JAD, Galvão C, Alevi KCC.   +10 more
europepmc   +1 more source