Results 191 to 200 of about 118,150 (263)

Genetic Characterization of MODY in Iranian Families Using Multigenerational-Based Whole-Exome Sequencing Approach. [PDF]

J Diabetes Res
Sefid F, Dehghan Tezerjani M, Asadollahi S, Madani SA, Pardal T, Imani M, Salmani Z, Rahmanian M, Hozhabri H, Kalantar SM, Vahidi Mehrjardi MY.   +10 more
europepmc   +1 more source

Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer‐Predisposing Factors in Familial Early‐Onset Colorectal Cancer

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Colorectal cancer (CRC) has raised considerable health concerns worldwide, with increasing incidence rates, specifically among younger populations. Despite remarkable progress in diagnosing and treating various diseases, the genetic basis of CRC remains only partially understood.
Behnaz Bagheri, Neda Mohsen‐Pour, Najmeh Salehi, Pardis Ketabi Moghadam, Adel Zeinalpour, Amir Sadeghi, Samira Kalayinia, Nayeralsadat Fatemi   +7 more
wiley   +1 more source

Caught by Whole-Exome Sequencing: Hemoglobin Sun Prairie in a Patient With Unexplained Hemolytic Anemia From Nepal. [PDF]

Case Rep Hematol
Upadhaya P, Shrestha A.
europepmc   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, EarlyView.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Determining Genetic Cause of Posterior Staphylomas in Eyes with Pathologic Myopia by Whole Exome Sequencing. [PDF]

Ophthalmol Sci
Wang Z, Chen C, Wu Y, Nagata Y, Tanaka T, Xie S, Lu H, Wang Y, Xiong J, Zhang L, Kamoi K, Ohno-Matsui K.   +11 more
europepmc   +1 more source

Data‐Independent Acquisition Mass Spectrometry in Tumor Classification and Cancer Biomarker Research

Mass Spectrometry Reviews, EarlyView.
Abstract Cancer treatment is far from optimal also because current classification systems do not reflect the complex molecular status of the tumor and its phenotype in sufficient detail. To construct molecular tumor classifiers, omics tools provide complex molecular data reflecting many aspects from genotype to phenotype.
Jan Simonik, Petr Lapcik, Pavla Bouchalova, Pavel Bouchal   +3 more
wiley   +1 more source

Whole exome sequencing of 20 patients with pulmonary hypertension caused by fibrosing mediastinitis. [PDF]

Chin Med J (Engl)
Li B, Liu S, Zhang J, Song J, Su H, Li Y, Tang A, Zhao Y, Gao T, Liu H, Zhang M, Zhang Y, Cao Y.   +12 more
europepmc   +1 more source

Integrating Chain‐of‐Thought and Retrieval Augmented Generation Enhances Rare Disease Diagnosis From Clinical Notes

Medicine Bulletin, EarlyView.
ABSTRACT Background Several studies show that large language models (LLMs) struggle with phenotype‐driven gene prioritization for rare diseases. These studies typically use Human Phenotype Ontology (HPO) terms to prompt foundation models such as GPT and LLaMA to predict candidate genes.
Zhanliang Wang, Da Wu, Quan Nguyen, Kai Wang   +3 more
wiley   +1 more source