Results 21 to 30 of about 1,328,374 (245)

Case Report: Novel Biallelic Null Variants of SMPD4 Confirm Its Involvement in Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, and Structural Brain Anomalies

Frontiers in Genetics, 2022
The SMPD4 gene encodes sphingomyelin phosphodiesterase 4, which preferentially hydrolyzes sphingomyelin over other phospholipids. The biallelic loss-of-function variants of SMPD4 have been identified in a group of children with neurodevelopmental ...
Weigang Ji, Xiangtian Kong, Honggang Yin, Jian Xu, Xueqian Wang, Xueqian Wang   +5 more
doaj   +1 more source

Influence of validating the parental origin on the clinical interpretation of fetal copy number variations in 141 core family cases

Molecular Genetics & Genomic Medicine, 2019
Background The sources and variants types of the copy number variations (CNVs) in prenatal fetal, and the critical role of parental origin on the interpretation of fetal CNVs are unclear.
Panlai Shi, Rui Li, Conghui Wang, Xiangdong Kong   +3 more
doaj   +1 more source

Pregnancies with ‘double-positive’ multiple marker screening results: a population-based study in Ontario, Canada

BMC Pregnancy and Childbirth
Background Multiple marker screening is offered to pregnant individuals in many jurisdictions to screen for trisomies 21 and 18. On occasion, the result is ‘double-positive’—a screening result that is unexpectedly positive for both aneuploidies. Although
Kara Bellai-Dussault, Shelley D. Dougan, Deshayne B. Fell, Steven Hawken, Tianhua Huang, Carolina Lavin Venegas, Julian Little, Lynn Meng, Nan Okun, Mark Walker, Christine M. Armour, Beth K. POTTER   +11 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Prenatal Screening and Genetics [PDF]

, 2001
Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'.
Alderson, P, Santalahti, P, Tymstra, T, Dragonas T, Aro, AR, Dragonas, T., Santalahti P, Aro, A., Jalinoja, P, Tymstra T, Santalahti, P., Dragonas, T, Tymstra, T., Hemminki, E, Hemminki E, Adam, E., Ettorre, E., Jallinoja P, Tijmstra, T., Hemminki, E., Alderson, Priscilla, Aro, A, Aro, A.R., Jalinoja, P., Ettorre, E, Ettorre E, Aro AR, Alderson, P., Alderson P   +28 more
core  

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Outcomes of pregnancies with varying levels of nuchal translucency measurements: A population‐based retrospective study in Ontario, Canada

Acta Obstetricia et Gynecologica Scandinavica
Introduction Nuchal translucency prenatal ultrasound is widely used to screen for chromosomal abnormalities. An elevated nuchal translucency has been associated with adverse outcomes such as pregnancy loss; however, extant studies investigating these ...
Kara Bellai‐Dussault, Shelley D. Dougan, Deshayne B. Fell, Carolina Lavin Venegas, Julian Little, Lynn Meng, Nan Okun, Mark Walker, Christine M. Armour, Beth K. Potter   +9 more
doaj   +1 more source

Clinical utility of exome sequencing in hearing loss: a retrospective cohort study

Frontiers in Genetics
BackgroundHearing loss (HL) is a prevalent sensorineural disorder with a highly heterogeneous etiology. Next-generation sequencing (NGS) has revolutionized the genetic testing landscape for diseases characterized by high genetic and allelic heterogeneity,
Chang Liu, Chang Liu, Yanlin Huang, Yanlin Huang, Anpeng Fu, Anpeng Fu, Yunan Wang, Yunan Wang, Jing Wu, Jing Wu, Yan Zhang, Yan Zhang, Li Du, Li Du, Hongke Ding, Hongke Ding, Lihua Yu, Lihua Yu, Fake Li, Fake Li, Yiming Qi, Yiming Qi, Yuan Liu, Yuan Liu, Xingwang Wang, Xingwang Wang, Yukun Zeng, Yukun Zeng, Ling Liu, Ling Liu, Ying Xiong, Ying Xiong, Yuanling Liu, Yuanling Liu, Xin Zhao, Xin Zhao, Liyuan Fang, Liyuan Fang, Jiayi Jian, Jiayi Jian, Aihua Yin, Aihua Yin, Yanqin You   +42 more
doaj   +1 more source

Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China

BMC Medical Genetics, 2018
Following publication of the original article [1], the authors reported an error in Table 3 on page 4. Variant No. 18 should be “ p.Ser339Phe c.1016C>T ” (as given in Number 117 of Additional file 2).
Ning Liu, Qiuying Huang, Qingge Li, Dehua Zhao, Xiaole Li, Lixia Cui, Ying Bai, Yin Feng, Xiangdong Kong   +8 more
doaj   +1 more source

Changes in Immune‐Inflammation Status and Prognosis in Pregnancy‐Related Cerebral Venous Thrombosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Distinguishing pathological changes from physiological adaptations in pregnancy‐related cerebral venous thrombosis (CVT) is clinically challenging. This study aimed to characterize coagulation, immune‐inflammation, and dehydration status in these patients and assess their prognostic value.
Xiaoming Zhang, Zilin Xu, Ran Duan, Chunxiao Lu, Da Zhou, Chen Zhou, Ran Meng, Xunming Ji   +7 more
wiley   +1 more source