Results 201 to 210 of about 269,697 (252)

Development of a High‐Throughput Microarray Platform for Rapid, Low‐Cost Expanded Carrier Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To develop a customized expanded carrier screening (ECS) solution for 8271 variants of 265 genes. Based on a microarray platform, this solution demonstrates comparable accuracy to next‐generation sequencing (NGS) platform; however, it has a lower cost, a faster speed, and a simplified data—analysis process.
Jiazhen Chang, Na Hao, Xiya Zhou, Yan Lü, Mengmeng Li, Kaili Yin, Xueting Yang, Hanzhe Zhang, Yukun Ma, Yanqin You, Qingwei Qi, Yulin Jiang   +11 more
wiley   +1 more source

Duplication of 4-bp in SACS leads to autosomal recessive spastic ataxia of Charlevoix-Saguenay type in two Pakistani patients. [PDF]

Hum Genome Var
Bibi S, Munir A, Ali F, Frederiksen HN, Shah S, Rashid A, Oreshkov S, Uddin S, Rahman HU, Noreen S, Ullah M, Ansar M, Rehman AU.   +12 more
europepmc   +1 more source

Potential of 3D Skin Models and N/TERT-2G Cell Line in Genetic Research on Autosomal Recessive Nonsyndromic Epidermal Differentiation Disorders. [PDF]

Exp Dermatol
Hsu-Rehder HH, Glocker C, Aldrian C, Dikici E, Wilde GS, Stavila M, Jonca N, Kollár B, Eisenhardt SU, Fischer J.   +9 more
europepmc   +1 more source

Fetal Intracranial Hemorrhage: What to Tell Expecting Parents?

Prenatal Diagnosis, EarlyView.
ABSTRACT To review the classification, epidemiology, etiology, prenatal diagnostic approach, and neurodevelopmental outcomes of fetal intracranial hemorrhage (ICH), and to provide clinicians with a practical, fetal‐specific framework for investigating and counseling families facing this diagnosis.
Shiri Shinar, Yada Kunpalin, Elka Miller
wiley   +1 more source

Epithelial cell expansion drives cyst progression in genetic models of autosomal recessive polycystic kidney disease. [PDF]

iScience
Liu S, Chen X, Liu Z, Tang J, Tian H, Peng Y, Mao X, Dai R, Zhao B, Li X, Li L, Luo L, Ma M.   +12 more
europepmc   +1 more source

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source

Population-Specific Mutational Spectrum of Autosomal Recessive Nonsyndromic Hearing Loss in Croatian Roma: Implications for Clinical Genetics. [PDF]

Genes (Basel)
Kutija Fučkar I, Zajc Petranović M, Martinović Klarić I, Peričić Salihović M, Barać Lauc L.   +4 more
europepmc   +1 more source

Emphysema in an 11‐month‐old boy with alpha‐1 antitrypsin deficiency

Pediatric Investigation, EarlyView.
Pediatric development of emphysema in Alpha‐1 Antitrypsin Deficiency (A1ATD) has been rarely described. In this case report, we document an 11‐month boy with A1ATD phenotype PiZZ with basilar centrilobular emphysema, the earliest such documented case.
Irvin Yi, Rachel Williams, Leela Chandrasekar, Saif Al‐Qatarneh   +3 more
wiley   +1 more source

ALOXE3 missense variant in a Chihuahua with autosomal recessive ichthyosis. [PDF]

Anim Genet
Vinberg C, Rietmann SJ, Soto S, Jagannathan V, Åhman S, Leeb T.   +5 more
europepmc   +1 more source

Methomyl resistance in Dalbulus maidis (Hemiptera: Cicadellidae): selection, inheritance and multiple‐resistance

Pest Management Science, EarlyView.
The inheritance of methomyl resistance in Dalbulus maidis is autosomal, incompletely dominant and polygenic. No cross‐resistance was found between methomyl and chlorfenapyr, cyantraniliprole and isocycloseram. Abstract BACKGROUND Acetylcholinesterase (AChE) inhibitor insecticides have been important tools for the management of Dalbulus maidis in Brazil;
Matheus Gerage Sacilotto, Gabriel Silva Dias, Mariana Yuki Iuanami, Celso Omoto   +3 more
wiley   +1 more source