Results 291 to 300 of about 724,095 (330)

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Diagnostic Models for Predicting Follicular Thyroid Carcinomas Using Circulating Plasma MicroRNAs. [PDF]

Cancers (Basel)
Kang SW, Kim JM, Shin SC, Cheon YI, Kim BH, Kim M, Kim SS, Lee BJ.   +7 more
europepmc   +1 more source

An Additional Report of a Female With a Complex XY Translocation Is Presented Who Has Successfully Completed a Pregnancy With Significant Y Chromosome Material Gain and Partial X Deletion

American Journal of Medical Genetics Part A, EarlyView.
John Coleman, Nicola Walsh, Deborah M. Lambert, Andrew Green, Sally Ann Lynch   +4 more
wiley   +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

Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis. [PDF]

Ann Med
Tengsujaritkul M, Louthrenoo O, Likhitweerawong N, Boonchooduang N, Srisurapanont M.   +4 more
europepmc   +1 more source

Chorionic Villus Sampling in the Era of Genomic Medicine: A Gateway to Early and Personalized Prenatal Diagnosis. [PDF]

Appl Clin Genet
Wysocka U, Stępniewska J, Kozłowska M, Kucińska A, Banaś-Leżańska P, Ałaszewski W, Dudarewicz L, Kaczmarek P, Grzesiak MS, Gach A.   +9 more
europepmc   +1 more source

Long-read genome sequencing resolves the breakpoints of a chromosome 8;22 balanced translocation in NF2-related schwannomatosis. [PDF]

Sci Rep
Montini M, Bonacchi L, Sidoti D, Cuccoli S, Pantaleo M, Peron A, Scuffi I, DosSantos MF, Nassini R, De Logu F, Papi L.   +10 more
europepmc   +1 more source

Erratum: Inhibition of STAT3 reduces proliferation and invasion in salivary gland adenoid cystic carcinoma. [PDF]

Am J Cancer Res
Bu LL, Deng WW, Huang CF, Liu B, Zhang WF, Sun ZJ.   +5 more
europepmc   +1 more source

Situs Inversus Totalis: A Case Report and Literature Review. [PDF]

Clin Case Rep
Du X, Wang N, Sheng J, Zhang Y, Gao J.
europepmc   +1 more source

Curated and harmonised transcriptomics datasets of interstitial lung diseases. [PDF]

Data Brief
Inkala S, Federico A, Serra A, Greco D.
europepmc   +1 more source