Results 61 to 70 of about 66,521 (260)

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

Orthodontic treatment need and prevalence of malocclusions in the Orthodontic Unit of "Sapienza - University of Rome" : a six - year clinical experience [PDF]

, 2019
AIM The objective of this epidemiological survey was to investigate the dental-skeletal features of subjects attending the Public Dental Service in U.O.C. (Orthodontic Department of “La Sapienza University of Rome) and compare them with the existing body
Giordano, Alessandra
core  

Intra-uterine fetal demise caused by amniotic band syndrome after standard amniocentesis [PDF]

, 2000
The amniotic band syndrome represents a prime example of exogenous disruption of an otherwise normal feta I development. It may be a sequel of invasive diagnostic procedures such as amniocentesis or fetal blood sampling. A 38-year-old gravida II, para II
Bauerfeind, I., Hasbargen, U., Hepp, Hermann, Paek, Bettina, Strauss, Alexander   +4 more
core   +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

Los niños de La Cova de Valdavara (Becerreá, Lugo): Análisis morfológico, patológico y del microdesgaste dental [PDF]

Munibe Antropologia-Arkeologia, 2019
Este artículo presenta un análisis holístico de los restos dentales pertenecientes a tres individuos infantiles del yacimiento de la Edad del Bronce de la Cueva de Valdavara (Becerréa, Lugo), mediante diferentes aproximaciones metodológicas, como es el ...
R. Hernando, M. Lozano, D. Ceperuelo, S. Alonso, M. Vaquero   +4 more
doaj   +1 more source

PRICKLE1-related early onset epileptic encephalopathy [PDF]

, 2018
The PRICKLE1 (Prickle Planar Cell Polarity Protein 1-MIM 608500) gene is involved in different phases of human development. The related diseases include autosomal recessive progressive myoclonus epilepsy - ataxia syndrome, neural tube defects associated ...
DI NOIA, S, Leuzzi, V, Martinelli, M, Mastrangelo, M, Parrini, E, Tolve, M   +5 more
core   +1 more source

Modern competency‐based teaching of human sexual development

Anatomical Sciences Education, EarlyView.
Abstract Embryology is an integral part of anatomy and a key subject in basic medical education. The development of the sexual tract, which is closely associated with the formation of the urinary tract and the organs of continence, is particularly complex and relevant for many medical disciplines.
Elisabeth Eppler, Alessandro Bilella, Christian M. Hammer   +2 more
wiley   +1 more source

Versatile but Temperamental: A Morphological Study of Palmaris Longus in the Cadaver [PDF]

Journal of Clinical and Diagnostic Research, 2015
Introduction: Palmaris longus (PL) is one of the most variable muscles in our body and is vestigial functionally. Its long tendon and its superficial location make it an ideal source for tendon harvesting.
Asha Joselet Mathew, Tintu Thottiyil Sukumaran, Susan Joseph   +2 more
doaj   +1 more source

Cerebrovascular disorders associated with agenesis of the internal carotid artery: Findings on digital subtraction angiography

Frontiers in Surgery, 2022
ObjectiveAgenesis of the internal carotid artery (ICA) is a rare vascular condition that is complicated by intracranial aneurysms and rete mirabile. The altered hemodynamics caused by this distinctive cerebrovascular angioarchitecture can cause ischemic ...
Xiaolong Xu, Hongjian Shen, Hongyu Ma, Xiaoxi Zhang, Lei Zhang, Qiang Li, Rui Zhao, Dongwei Dai, Zifu Li, Pengfei Yang, Jianmin Liu   +10 more
doaj   +1 more source

Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia. [PDF]

, 2013
The commonest association of thymic stromal deficiency resulting in T-cell immunodeficiency is the DiGeorge syndrome (DGS). This results from abnormal development of the third and fourth pharyngeal arches and is most commonly associated with a ...
Davies, EG
core   +2 more sources