Results 21 to 30 of about 6,319,608 (297)

The Role of Deep Phenotyping of Precision Medicine for Rare Bone Diseases

罕见病研究, 2023
Deep phenotyping is a precise and comprehensive approach used for the precise analysis and comprehensive assessment of multi-system phenotypes of the patients.
LI Guozhuang, XU Kexin, WU Zhihong, ZHANG Jianguo, QIU Guixing, WU Nan   +5 more
doaj   +1 more source

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

Frontiers in Genetics, 2019
Prenatal ultrasound (US) abnormalities often pose a clinical dilemma and necessitate facilitated investigations in the search of diagnosis. The strategy of pursuing fetal whole-exome sequencing (WES) for pregnancies complicated by abnormal US findings is
Lior Greenbaum, Lior Greenbaum, Lior Greenbaum, Ben Pode-Shakked, Ben Pode-Shakked, Shlomit Eisenberg-Barzilai, Michal Dicastro-Keidar, Anat Bar-Ziv, Nurit Goldstein, Haike Reznik-Wolf, Hana Poran, Amihai Rigbi, Ortal Barel, Aida M. Bertoli-Avella, Peter Bauer, Miriam Regev, Miriam Regev, Annick Raas-Rothschild, Annick Raas-Rothschild, Elon Pras, Elon Pras, Michal Berkenstadt, Michal Berkenstadt   +22 more
doaj   +1 more source

A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disorders

Frontiers in Genetics, 2022
Neurodevelopmental disorders including autism spectrum disorder, intellectual disability, and global developmental delay are among the most common indications for referral to clinical genetics evaluation; and clinical genetic testing is indicated for ...
Amelle Shillington, Amelle Shillington, Amelle Shillington, Martine Lamy, Martine Lamy, Kelli C. Dominick, Kelli C. Dominick, Michael Sorter, Michael Sorter, Craig A. Erickson, Craig A. Erickson, Robert Hopkin, Robert Hopkin   +12 more
doaj   +1 more source

A De Novo case of autosomal dominant mitochondrial membrane protein‐associated neurodegeneration

Molecular Genetics & Genomic Medicine, 2021
Background Mitochondrial membrane protein‐associated neurodegeneration (MPAN) is a genetic neurodegenerative condition previously thought to be inherited only in an autosomal recessive pattern through biallelic pathogenic variants in C19orf12.
Stuart Fraser, Mary Koenig, Laura Farach, Pedro Mancias, Kate Mowrey   +4 more
doaj   +1 more source

LncRNA-Top: Controlled deep learning approaches for lncRNA gene regulatory relationship annotations across different platforms

iScience, 2023
Summary: By soaking microRNAs (miRNAs), long non-coding RNAs (lncRNAs) have the potential to regulate gene expression. Few methods have been created based on this mechanism to anticipate the lncRNA-gene relationship prediction.
Weidun Xie, Xingjian Chen, Zetian Zheng, Fuzhou Wang, Xiaowei Zhu, Qiuzhen Lin, Yanni Sun, Ka-Chun Wong   +7 more
doaj   +1 more source

Genetics in Clinical Trials [PDF]

, 2009
Clinical trials provide the ‘evidence’ in evidence-based medicine. Despite their cost and complexity, clinical trials save society billions of dollars [1]. Recent advances have enabled genome-wide analyses of single nucleotide polymorphisms in complex diseases. Such analyses require large sample sizes and thus depend on collaborative efforts.
James F, Meschia, Katrina, Gwinn
openaire   +2 more sources

Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy [PDF]

, 2018
BACKGROUND: The clinical outcomes of noncompaction cardiomyopathy (NCCM) range from asymptomatic to heart failure, arrhythmias, and sudden cardiac death. Genetics play an important role in NCCM. OBJECTIVES: This study investigated the correlations
van Spaendonck-Zwarts, KY, Dalinghaus, M, Hofstra, RMW, Backx, A, van Melle, JP, IJpma, Arne, Teske, AJ, Sarvaas, GJD, van den Berg, MP, Caliskan, Kadir; id_orcid, Caliskan, Kadir, Kardys, Isabella, Baas, AF, Asselbergs, FW, du Marchie Sarvaas, GJ, Breur, JMPJ, Linschoten, MPM, Breur, J, Boekholdt, SM, Dooijes, D, Waning, Jaap, Hofstra, Robert, Backx, APCM, Spaendonck-Zwarts, KY, Majoor-Krakauer, D, Caliskan, K, IJpma, AS, Jongbloed, JDH, Hoedemaekers, YM, Dalinghaus, M., Kardys, I, van Slegtenhorst, Marjon, van Slegtenhorst, MA, Deprez, RHL, Majoor - Krakauer, Danielle, Verlooij, LA, van Waning, JI   +36 more
core   +1 more source

Clinical genetics in transition—a comparison of genetic services in Estonia, Finland, and the Netherlands

, 2021
Genetics has traditionally enabled the reliable diagnosis of patients with rare genetic disorders, thus empowering the key role of today’s clinical geneticists in providing healthcare.
Rigter, T., Vrijenhoek, T., Kääriäinen, H., Leitsalu, L., Tonisson, N.   +4 more
core   +1 more source

Molecular mechanism of androgen receptor mutation in multigenerational mild androgen insensitivity syndrome

Endocrine Connections
Objective: Androgen insensitivity syndrome (AIS) due to androgen receptor (AR) mutations creates a spectrum of clinical presentations based on residual AR function with the mildest impairment creating mild AIS (MAIS) whose undefined molecular mechanism ...
Ravind Pandher, Ruby Chang, Yiqun Chang, David E Hibbs, Jonathan J Du, Kristine McGrath, Alison Heather, Veena Jayadev, David J Handelsman   +8 more
doaj   +1 more source

Germline whole genome sequencing in pediatric oncology in Denmark—Practitioner perspectives

Molecular Genetics & Genomic Medicine, 2020
Background With the implementation of a research project providing whole genome sequencing (WGS) to all pediatric cancer patients in Denmark (2016–2019), we sought to investigate healthcare professionals' views on WGS as it was actively being implemented
Anna Byrjalsen, Ulrik K. Stoltze, Anders Castor, Ayo Wahlberg   +3 more
doaj   +1 more source