Results 71 to 80 of about 12,639 (247)

Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study

Molecular Genetics & Genomic Medicine, 2023
Background Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations and deletions in SMN1 at exon 7. The carrier frequency for SMN1 mutations ranges from 2 to 4% in the general population. Methods We examined allelic, genotypic
Faisal Ibrahim, Dinesh Velayutham, Mohamed Alsharshani, Usama AlAlami, Manar AlDewik, Tala Abuarja, Hilal Al Rifai, Nader I. Al‐Dewik   +7 more
doaj   +1 more source

Flexible RNA design under structure and sequence constraints using formal languages [PDF]

, 2013
The problem of RNA secondary structure design (also called inverse folding) is the following: given a target secondary structure, one aims to create a sequence that folds into, or is compatible with, a given structure.
Denise, Alain, Ponty, Yann, Vialette, Stéphane, Waldispühl, Jérôme, Zhang, Yi, Zhou, Yu   +5 more
core   +5 more sources

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

Factors modifying the course of spinal muscular atrophy 5q

Нервно-мышечные болезни
Proximal spinal muscular atrophy 5q (SMA 5q) is a severe autosomal recessive neuromuscular disease characterized by progressive symptoms of flaccid paralysis and muscular atrophy due to degeneration of α-motor neurons of the anterior horns of the spinal ...
M. A. Akhkiamova, O. A. Shchagina, A. V. Polyakov   +2 more
doaj   +1 more source

Spinal Muscular Atrophy Carrier Screening: Assessment of Provider Knowledge and Clinical Practice

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The American College of Obstetricians and Gynecologists (ACOG) recommends offering spinal muscular atrophy (SMA) carrier screening (CS) preconception or prenatally. This study aimed to determine provider knowledge of SMA and SMA CS practice patterns and to describe the relationship between knowledge and comfort while discussing ...
Melissa Riegel, Whitney Bender, Elizabeth Critchlow, Lorraine Dugoff   +3 more
wiley   +1 more source

Further supporting evidence for REEP1 phenotypic and allelic heterogeneity. [PDF]

, 2019
Heterozygous mutations in REEP1 (MIM #609139) encoding the receptor expression-enhancing protein 1 (REEP1) are a well-recognized and relatively frequent cause of autosomal dominant hereditary spastic paraplegia (HSP), SPG31.1 REEP1 localizes in the ...
Behnam, M, Houlden, H, Kaiyrzhanov, R, Maroofian, R, Salehi, M, Salpietro, V   +5 more
core   +3 more sources

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing

Molecular Genetics & Genomic Medicine, 2020
Background Spinal muscular atrophy (SMA) is an inherited neuromuscular disease affecting 1 in 8,000 newborns. The majority of patients carry bi‐allelic variants in the survival of motor neuron 1 gene (SMN1).
Ivana Jedličková, Anna Přistoupilová, Lenka Nosková, Filip Majer, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová, Helena Trešlová, Michaela Hýblová, Peter Solár, Gabriel Minárik, Mária Giertlová, Stanislav Kmoch   +12 more
doaj   +1 more source

Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot Project

International Journal of Neonatal Screening, 2023
Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by biallelic pathogenic/likely pathogenic variants of the survival motor neuron 1 (SMN1) gene.
Farshad Niri, Jessie Nicholls, Kelly Baptista Wyatt, Christine Walker, Tiffany Price, Rhonda Kelln, Stacey Hume, Jillian Parboosingh, Margaret Lilley, Hanna Kolski, Ross Ridsdale, Andrew Muranyi, Jean K. Mah, Dennis E. Bulman   +13 more
doaj   +1 more source