Results 181 to 190 of about 15,773 (268)

Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal sequencing of fetuses with abnormalities detected on imaging is expanding globally. Debate continues over whether variants of uncertain significance (VUS) should be reported prenatally, with some recent national position statements opposing this.
A. Gibbs, R. Braham, V. Ramachandran, R. Roberts, C. Willison, T. Ashraf, J. Cobben, A. Gardham, M. Holder‐Espinasse, T. Homfray, S. G. Mehta, D. Tapon, P. Vasudevan, N. J. Chandler   +13 more
wiley   +1 more source

Alternative polyadenylation and metabolic profiling in young panicle development of hybrid rice and its parents. [PDF]

Rice (N Y)
Wu G, Yu S, Fu J, Ouyang L, Hu L, Bian J, Chen X, Xu J, Zhou D, He H, Fu H.   +10 more
europepmc   +1 more source

Early‐Onset Parkinson's Disease with 22q11.2 Microdeletion and Pathogenic GBA1 Variant

Movement Disorders Clinical Practice, EarlyView.
Nikolai Gil D. Reyes, Daniel G. Di Luca, Ivan Martinez‐Valbuena, Erik Boot, Maria Corral, Ryan K.C. Yuen, Connie Marras, Anthony E. Lang, Anne S. Bassett   +8 more
wiley   +1 more source

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

Vasectomy in the absence of paternity A pre- and post-pandemic Canadian cohort analysis. [PDF]

Can Urol Assoc J
Hughes G, Grober E, Li T, Krakowsky Y.
europepmc   +1 more source

Novel and High‐Throughput Method of Isolating Single Fetal Cells Using FACS for NIPT

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate fluorescence activated cell sorting (FACS) as a method of single‐cell isolation of rare circulating fetal cells from maternal blood for use in cell‐based non‐invasive prenatal testing (cbNIPT). Method Blood samples (30 mL) were collected from 75 ‘low‐risk’ pregnant women (gestational age 10–15 weeks).
Ripudaman Singh, Bolette Hestbek Nicolaisen, Mathias Kølvraa, Inga Baasch Christensen, Mads Tang Dalsgaard, Lars Henning Pedersen, Niels Uldbjerg, Ida Vogel, Lotte Hatt, Katarina Ravn   +9 more
wiley   +1 more source

Greater pollen-mediated gene flow among than within populations of a bumblebee-pollinated forest herb despite habitat fragmentation. [PDF]

Mov Ecol
Feigs JT, Huang S, Kramp K, Holzhauer SIJ, Naaf T.   +4 more
europepmc   +1 more source

Joint Estimation of Paternity, Sibships and Pollen Dispersal in a Snapdragon Hybrid Zone. [PDF]

Mol Ecol
Ellis TJ, Field DL, Barton NH.
europepmc   +1 more source

Implications of uniparental disomy in forensic kinship testing: A case study of paternal isodisomy on chromosome 3. [PDF]

J Forensic Sci
Fontanil H, Pedroza Matute S, Haizel T, Iyavoo S.   +3 more
europepmc   +1 more source

Diagnostic Testing After Positive Cell‐Free DNA Screening for Sex Chromosome Aneuploidies: Clinical and Socioeconomic Determinants

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To assess socioeconomic and medical factors associated with prenatal confirmatory diagnostic testing after positive prenatal cell‐free (cfDNA) screening for sex chromosome aneuploidies (SCA) in a diverse contemporary patient cohort.
Blair K. Stevens, Sarah Araji, Mohamad Ali Maktabi, Randy Liu, Lauren Westerfield, Michael Wassef, Dejian Lai, Ignatia B. Van den Veyver, Meera Krishnan, Charlotte Lawrence, Siddharth K. Prakash   +10 more
wiley   +1 more source