Results 231 to 240 of about 157,517 (293)

Correction: Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant. [PDF]

Eur J Hum Genet
Daga S, Loberti L, Rollo G, Adamo L, Colavecchio OL, Brunelli G, Zguro K, Tripodi SA, Guarnieri A, Garosi G, D'Aurizio R, Ariani F, Tita R, Renieri A, Pinto AM.   +14 more
europepmc   +1 more source

Autosomal dominant polycystic kidney disease

, 2021
openaire   +1 more source

Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell‐Free DNA? A Systematic Literature Review

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Monogenic disorders (MDs), often associated with developmental delay, intellectual disability, hypotonia, or dysmorphic facial features, typically go undetected during pregnancy. These disorders are frequently caused by de novo single nucleotide variants (SNVs), which are not currently covered by routine non‐invasive prenatal testing
Kristína Valovičová, Karin E. M. Diderich, Wichor M. Bramer, Sander Lamballais, Malgorzata Ilona Srebniak   +4 more
wiley   +1 more source

A Prospective Evaluation of the Diagnostic Utility for Low‐Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The present study aimed to evaluate the efficacy of LC‐GS in detecting clinically relevant chromosomal abnormalities in comparison with conventional CMA within a prenatal context. Methods We conducted a prospective study involving 200 amniotic fluid samples.
Yan Yin, Yuxia He, Chun Chen, Yanyan He, Jin Wang, Shengfang Qin, Hongna Wang, Kun Ma, Dahui Hu, Rui Xiao, Gang Wang, Xueyan Wang   +11 more
wiley   +1 more source

Preclinical CSF proteomic changes: a milestone in biomarker detection for autosomal dominant Alzheimer's disease. [PDF]

Signal Transduct Target Ther
Ross JA, Dodel R.
europepmc   +1 more source

The Ultrasound and Genetic Characteristics of Fetuses With Laterality Defects—A Prenatal Cohort in Asian Population

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the distribution of laterality defects in fetuses, including situs inversus totalis (SIT) and situs ambiguous (SA), and to explore the potential genetic etiology of these laterality defects. Methods Detailed fetal echocardiography and extracardiac structural evaluations were performed.
Wu Yi, Hua Renyi, Chen Yiyao, Wang Xiao, Chen Ping, Wang YanLin, Wang Hui   +6 more
wiley   +1 more source

Commentary: Tolvaptan for Autosomal Dominant Polycystic Kidney Disease (ADPKD) - an update. [PDF]

BMC Nephrol
Gittus M, Haley H, Harris T, Borrows S, Padmanabhan N, Gale D, Simms R, Williams T, Acquaye A, Wong A, Chan M, Lee E, Ong AC.   +12 more
europepmc   +1 more source

Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients

Pediatric Investigation, EarlyView.
NIPBL variants (78.9%) dominate 19 Chinese pediatric Cornelia de Lange syndrome (CdLS). Universal craniofacial anomalies (94.7%) and developmental delay (84.2%) were observed. NIPBL null variants are associated with severe growth impairment and microcephaly, yet overall clinical severity remains heterogeneous, underscoring genotype‐phenotype complexity
Xiaoqiao Li, Ming Cheng, Min Liu, Wenjing Li, Yuchuan Li, Bingyan Cao, Liya Wei, Yuan Ding, Xi Meng, Lele Li, Chunxiu Gong   +10 more
wiley   +1 more source

SARM1 loss protects retinal ganglion cells in a mouse model of autosomal dominant optic atrophy. [PDF]

J Clin Invest
Ding C, Ndiaye PS, Campbell SR, Fry MY, Gong J, Wienbar SR, Gibbs W, Morquette P, Chao LH, Do MTH, Schwarz TL.   +10 more
europepmc   +1 more source