Results 151 to 160 of about 344,370 (242)

A panel of serum-derived exosomal miRNAs as markers of cardiovascular risk assessed by carotid intima-media thickness in patients with type 2 diabetes. [PDF]

Am J Transl Res
Lu W, Yin L, Zou S, Wu M, Du X, Li H, Shi B.   +6 more
europepmc   +1 more source

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Systematic evaluation of long- and short-read RNA-seq for human peripheral blood. [PDF]

NAR Mol Med
Iwabuchi S, Nasti A, Okada H, Takeshita Y, Sato TA, Urabe T, Takamura T, Tamura T, Tajima A, Matsubara K, Kaneko S.   +10 more
europepmc   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Toward Comprehensive Clinical Genomics: Integrating Exon-Level Analysis for Detecting Monogenic Copy Number Variations. [PDF]

Ann Lab Med
Seo EJ.
europepmc   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

A case with a de novo chromosome 8.9 Mb 11pter duplication and 6.4 Mb 11qter deletion derived from a father with a normal karyotype. [PDF]

Clin Dysmorphol
Pakhathirathien P, Vaseenon H, Thammachote W, Songpatanasilp C, Sinpitak P, Tocharoentanaphol C, Jinawath N, Wattanasirichaigoon D.   +7 more
europepmc   +1 more source

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales, Kathleen Shields, Meagan Choates, Paul Hillman, Laura Farach, Theresa Wittman, Kathryn Leal   +6 more
wiley   +1 more source

Molecular epidemiology of drug resistance and transmission of <i>Mycobacterium tuberculosis</i> in Meigu County, Sichuan Province, China. [PDF]

Microbiol Spectr
Deng Y, He X, Bibu C, Ren Y-X, Fang Y, Qubi L, He A-Z, Acheng W, Li C-Y, Zhang J, Li J.   +10 more
europepmc   +1 more source

Panmicrobial Microarrays

, 2020
openaire   +2 more sources