Results 191 to 200 of about 615,013 (286)

Genetic Investigation in Fetal Growth Restriction: An Integrated Approach for Clinical Practice

Prenatal Diagnosis, EarlyView.
ABSTRACT International guidelines recommend genetic testing when fetal growth restriction (FGR) accompanies structural anomalies, but recommendations for apparently isolated FGR remain variable, particularly regarding gestational age thresholds and the role of exome sequencing (ES). Interpretation is difficult because studies define FGR inconsistently,
Eran Ashwal, David Chitayat
wiley   +1 more source

Linear Cutaneous and Craniofacial Anomalies in a Female Infant

JEADV Clinical Practice, EarlyView.
Kim H. Tran, Kimia Ameri, Joseph M. Lam
wiley   +1 more source

From Isolated to Complex: Diagnostic Yield of Chromosomal Microarray and Exome Sequencing in Fetal Growth Restriction

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the overall diagnostic yield of sequential chromosomal microarray (CMA) and exome sequencing (ES) across the phenotypic spectrum of fetal growth restriction (FGR). Methods A retrospective cohort of 320 consecutive FGR pregnancies presenting at ≥ 20 weeks to a tertiary fetal medicine unit (2020–2025).
Hadas Miremberg, May Shabat, Maya Stok, Vered Offer Glasner, Adi Botvinik, Mordechai Shohat, Michal Levy, Yuval Yaron, Roee Birnbaum, Sharon Perlman, Gustavo Malinger, Karina Krajden Haratz   +11 more
wiley   +1 more source

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source

Phenotyping and hierarchical clustering in genetically unresolved DSD identifies distinct multisystem clinical subgroups-a DSDgene study. [PDF]

J Endocr Soc
Kouri C, Allimussina M, Ahmed SF, Flück CE.   +3 more
europepmc   +1 more source

Machine learning‐driven advances in carbon‐based quantum dots: Opportunities accompanied by challenges

Responsive Materials, EarlyView.
Machine learning provides a unifying framework to connect structure, fluorescence properties, and applications of carbon‐based quantum dots. This review highlights how data‐driven strategies enable fluorescence regulation, reveal underlying mechanisms, and accelerate the rational design of functional carbon dots.
Liangfeng Chen, Siwei Yang, Xiangqian Cui, Ziheng Liu, Hang Wang, Yongqiang Li, Peng He, Miao Wang, Guqiao Ding   +8 more
wiley   +1 more source

Carbon dots in electrochemiluminescence: Mechanisms, interface engineering, and bioanalytical applications

Responsive Materials, EarlyView.
Carbon dots are emerging as versatile electrochemiluminescent nanomaterials whose structure, surface states, and interfacial design jointly determine ECL pathways and performance. This review highlights how mechanistic understanding and materials engineering enable programmable CD‐ECL systems for bioanalysis, imaging, and future intelligent analytical ...
Yuhan Zhao, Zixuan Chen, Jun‐Jie Zhu
wiley   +1 more source

A Digital Atlas of Human Ultrastructure

Small, EarlyView.
An interactive resource with ultrastructural data of human organs. Analyse organs from sub‐millimeter up to the nanometer range of macromolecules in a similar way as Google‐earth: https://www.nanotomy.org/OA/HumanAtlas/. ABSTRACT Electron microscopy (EM) is the method to visualize the building blocks of life in organs and tissues at biomolecular ...
Anouk H. G. Wolters, Kim Kats, Jeroen Kuipers, Erik Bleuel, Ben N. G. Giepmans   +4 more
wiley   +1 more source

Hidden Hollows of the Fetal Cranium-Lacunar Skull in Isolation. [PDF]

Case Rep Obstet Gynecol
Noonan G, Sheahan L, Sterrett M.
europepmc   +1 more source

Programmable Chirality Transfer: Seeding‐Directed Co‐Assembly of Functional Molecules With Amyloid Frameworks

Small, EarlyView.
Seeding‐directed co‐assembly enables efficient chirality transfer from chiral amyloid scaffold to achiral functional molecules. Controlled assembly pathways result in hierarchical hybrid supramolecular structures showing enhanced induced electronic circular dichroism (IECD) and/or vibrational circular dichroism (IVCD).
Aleksandra Kołodziejczyk, Joanna Mazurkiewicz, Andrzej J. Kałka, Agnieszka Kaczor   +3 more
wiley   +1 more source