Results 91 to 100 of about 1,328,374 (245)

Screening of 50,539 newborns for congenital hypothyroidism: optimization of TSH cut-off values and seasonal impact in clinical practice

Frontiers in Endocrinology
ObjectiveTo analyze the incidence of congenital hypothyroidism (CH) in Putian, optimize the thyroid-stimulating hormone (TSH) screening cut-off value, and improve diagnostic efficiency and accuracy.MethodsA retrospective analysis was conducted on TSH ...
Lixian Zhang, Kun Lin, Xinrong Han
doaj   +1 more source

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

Pregnant women's and their partners' perception of an information model on prenatal screening

, 2012
Objective: Extended verbal information on prenatal screening was given when combined ultrasound and biochemistry screening test was offered at Örebro County Council, Sweden, in 2008. The aim of this study was to describe pregnant women's and her partners'
Wätterbjörk, Inger,, Blomberg, Karin,, Sahlberg-Blom, Eva,, Nilsson, Kerstin,   +3 more
core   +1 more source

Prenatal Diagnosis of Retinoblastomas: A Scoping Review

International Journal of General Medicine, 2023
Aurora Rodriguez,1 Caitlin Kelley,1 Anjali Patel,1 Aparna Ramasubramanian2 1School of Medicine, Creighton University, Phoenix, AZ, USA; 2Ophthalmology Department, Phoenix Children’s Hospital, Phoenix, AZ, USACorrespondence: Aparna Ramasubramanian ...
Rodriguez A, Kelley C, Patel A, Ramasubramanian A   +3 more
doaj  

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

To What Extent Do Australian Government Metrics Align With Indigenous and Non‐Indigenous Conceptualisations of Wellbeing? A Scoping Review of Wellbeing Frameworks

Australian Journal of Social Issues, EarlyView.
ABSTRACT Indigenous wellbeing theories offer potential to better measure social and cultural determinants. This scoping review aimed to identify the types of metrics used by the Australian government to assess wellbeing and evaluate the alignment of current frameworks against Indigenous and non‐Indigenous conceptualisations of wellbeing.
Sophie Wright‐Pedersen, Edward J. O'Connor, Megan Rebuli, Tiana Thorne, Naomi Kakoschke, Ray Mahoney   +5 more
wiley   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

First clinical and molecular characterization of two rare complex β-globin variants in Chinese population using third generation sequencing

Annals of Hematology
Background With the widespread application of third-generation sequencing (TGS) technology, an increasing number of rare or previously unreported β-globin gene variants have been discovered.
Lixian Zhang, Jianlong Zhuang, Nan Huang, Wanyu Fu, Chunnuan Chen   +4 more
doaj   +1 more source