Results 181 to 190 of about 218,193 (340)

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Microscopic and endoscopic "chopstick" technique removal of choroid plexus papilloma in the third ventricle of an infant: a case report with systematic review of literature. [PDF]

Front Oncol, 2023
Li W, Li Z, Wei C, Yang X, Ji Y, Liu H.
europepmc   +1 more source

A Operative Case of the Third Ventricle Colloid Cyst Using Neuroendoscope

, 1995
Taizo Hirohata, Tohru Uozumi, Kaoru Kurisu, Basant Pantb, Naoyuki Isobe, Yoshihiro Kiura   +5 more
openalex   +2 more sources

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Mastering third ventricle surgery through anatomical laboratory knowledge. [PDF]

Surg Neurol Int
Serrano LANDA, Velázquez HOH, Anderson FJM, Borrero GES, Leguina ABR, Teyssandier M, Effgen EA, da Trindade ÉSGG, Filho JMC, Chaddad-Neto F.   +9 more
europepmc   +1 more source

Reconstruction of Cerebrospinal Fluid Flow in the Third Ventricle Based on MRI Data [PDF]

, 2005
Vartan Kurtcuoglu, Michaela Soellinger, Paul Summers, Kevin Boomsma, Dimos Poulikakos, Peter Boesiger, Yiannis Ventikos   +6 more
openalex   +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

A novel method of fabricating dynamic, heterogenous benchtop lateral and third ventricle phantoms from MRI of hydrocephalus patients: a verification and validation study. [PDF]

Fluids Barriers CNS
Gura B, Faryami A, Roberts C, Harris CA.
europepmc   +1 more source

Severe Hydrocephalus due to Obstructive Basilar Dolichoectasia of the Third Ventricle. [PDF]

Eur J Case Rep Intern Med, 2022
Laverdeur C, Azongmo Tadjouteu M, Berenger Ngah C, Gorur Y, Cardos B, Lorenzo Villalba N, Ali D.   +6 more
europepmc   +1 more source

Anatomy of the woodchuck (Marmota monax) / [PDF]

, 2005
Bezuidenhout, A. J. (Abraham Johannes), 1942-, Evans, Howard E. (Howard Edward), 1922-   +1 more
core   +2 more sources