Results 121 to 130 of about 86,851,642 (308)

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy, Pascal Joset, H. E. Veenstra‐Knol, Nicole Corsten‐Janssen, Tuula Rinne, Irene Valenzuela, Marta Codina‐Solà, Carlota Rodó, Marjolaine Willems, Constance Wells, Renaud Touraine, Maayke de Koning, Gijs Santen, Iris Hollink, André Travessa, Alessandro Mauro Spinelli, Paolo Peruzzo, Moneef Shoukier, Roland Axt‐Fliedner, Thomas Menter, Gwendolin Manegold‐Brauer, Isabel Filges   +21 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

Risk Factors for Recurrent Small-for-Gestational-Age Birth

, 2010
The factors associated with recurrent small-for-gestational-age birth (R-SGA) have not been previously studied in a multiracial population. This is a retrospective cohort study of 5932 black and white women who had consecutive singleton first and second ...
Okah, Felix A., Hoff, Gerald L., Dew, Paul C., Cai, Jinwen   +3 more
core   +1 more source

Histological analysis of the spatio‐temporal development of porcine knee cartilage in embryonic and early postnatal stages

Animal Models and Experimental Medicine, EarlyView.
This study dynamically charts the developmental process of the knee joint cartilage from the embryonic stage through to postnatal life, revealing key developmental events including the origin of knee joint development, chondrification, primary ossification, secondary ossification, formation of the cartilage cancal, and formation of the growth plate. It
Yan Nie, Kai Wang, Xuewen Wang, Jinzhu Jing, Zhen Liang, Guoqiang Yan, Wen Feng Guo, Meng Zhang, Wei Zhang, Lei Xiang   +9 more
wiley   +1 more source

Association between maternal lipid profiles and vitamin D status in second trimester and risk of LGA or SGA: a retrospective study

Frontiers in Endocrinology
BackgroundAccumulating evidence has linked dyslipidemia during pregnancy to the risk of delivering infants born either large for gestational age (LGA) or small for gestational age (SGA). However, the effects of the vitamin D status on these relationships
Xianhua Zheng, Kefeng Lai, Chengyi Liu, Yuan Chen, Xiaodan Zhang, Weixiang Wu, Mingyong Luo, Chunming Gu   +7 more
doaj   +1 more source

Expanded characterization of the valproic acid zebrafish larval model of autism spectrum disorder: Insights into dysregulation in the gut

Animal Models and Experimental Medicine, EarlyView.
Meticulous calculation of zebrafish‐equivalent therapeutic valproic acid (VPA) dosage maximized the translational value of the data. Hyposerotonergic tone underpinned an anxiety‐like outcome as a core symptom of autism spectrum disorder (ASD). Compartment‐specific dopaminergic and serotonergic dysregulation in the brain versus gut provided mechanistic ...
Lesha Pretorius, Johanna Adriana Coetzee, Alexio Pedro dos Santos, Carine Smith   +3 more
wiley   +1 more source

Biomimetic Nanofiber Scaffold Coated With Acellular Matrices for Uterine Myometrial Tissue Engineering

Advanced NanoBiomed Research, EarlyView.
Schematic representation of acellular matrix generation from human uterine fibroblast cells, coating on polycaprolactone electrospun nanofibers, and subsequent in vitro and in vivo characterization. A tissue‐engineered scaffold tailored for uterine myometrium‐specific regeneration is designed. The electrospinning technique was used to fabricate aligned
Srividya Hanuman, Shripad S. Hebbar, Rishikesh Balvalli, Manasa Nune   +3 more
wiley   +1 more source

Development and validation of super learner models to predict small and large for gestational age in the second generation

Scientific Reports
Prediction of small (SGA) and large for gestational age (LGA) using routinely collected antenatal data remains suboptimal, particularly among nulliparous women.
Mary M. Brown, Stefan Kuhle, Bruce Smith, Victoria M. Allen, Jennifer Payne, Christy G. Woolcott   +5 more
doaj   +1 more source

Ontogeny of murine bony semicircular canal form

The Anatomical Record, EarlyView.
Abstract The labyrinthine geometry and functional anatomy of the semicircular canals have intrigued scientists for decades, and there has been considerable interest in understanding how these complex structures grow and develop with evidence emerging from human studies that size maturation occurs exceptionally early by comparison with other systems ...
Marcela Cárdenas‐Serna, Nathan Jeffery   +1 more
wiley   +1 more source

Total energy expenditure in small for gestational age infants

, 1996
Objective-To measure total energy expenditure and body composition in small for gestational age (SGA) infants, to investigate ...
Davies, P.S.W., Cole, J.J., Bishop, N.J., Clough, H., Lucas, A., Cole, T.J.   +5 more
core   +1 more source