Results 301 to 310 of about 2,830,903 (392)

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Evaluation of Pulmonary Blood Flow, Right Atrium, Right Ventricle, and Pulmonary Artery in Patients After Pneumonectomy. [PDF]

J Clin Med
Stępkowski M, Wojtyś ME, Wójcik N, Safranow K, Pieróg J, Kordykiewicz D, Szulc J, Sulikowski T, Jarosz K, Grodzki T, Wójcik J.   +10 more
europepmc   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Long-Term Surgical Outcomes in Double Outlet Right Ventricle Based on Detailed Anatomical Sub-Typology. [PDF]

Eur J Cardiothorac Surg
Pang K, Yang K, Wang R, Ma K, Xu N, Xing J, Zhang L, Zhang T, Li S.   +8 more
europepmc   +1 more source

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

Trans-right ventricle metabolite gradients in obesity highlight multiple metabolic pathways. [PDF]

Physiol Rep
Knauss HM, Ambatipudi M, Kosyakovsky LB, Herzig MS, Wang JK, Liu EE, Lau ES, McNeill JN, Shi X, Gerszten RE, Hamburg NM, Lewis GD, Robbins JM, Ho JE.   +13 more
europepmc   +1 more source

Determining Axis and Axis Deviation on an ECG [PDF]

, 2010
Loftis, Patrick
core   +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

Complex Management of Thromboembolism in Double-Outlet Right Ventricle. [PDF]

JACC Case Rep
Bhargava P, Saleh A, Osula D, Clark S, Ahmed M, Cribbs M.   +5 more
europepmc   +1 more source

Establishment of a biosafe murine model of skeletal tuberculosis using Mycobacterium smegmatis

Animal Models and Experimental Medicine, EarlyView.
This study developed a biosafe, accessible, and versatile murine model of bone TB using Mycobacterium smegmatis, a fast‐growing, nonpathogenic mycobacterial species with high genomic homology to Mycobacterium tuberculosis. Three infection routes—subperiosteal calvarial injection, intratibial injection, and intracardiac (left ventricular) inoculation ...
Yewei Jia, Yuhuai Guo, Yusheng Yang, Jie Zhang, Ziyang Zhang, Ying Qu, Jiulin Tan, Jie Shen, Nathachit Limjunyawong, Jianzhong Xu, Zehua Zhang, Fei Luo, Ce Dou   +12 more
wiley   +1 more source