Results 221 to 230 of about 120,158 (339)

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

Clinical Insight of Cytokine Panel Testing in Patients with Inborn Errors of Immunity

Dayne Voelker, Avni Y. Joshi
openalex   +1 more source

The prevalence of allergic manifestations in inborn errors of immunity: a retrospective cohort study. [PDF]

BMC Immunol
Esmaeilzadeh H, Esmaeilbeig M, Askarisarvestani A, Alyasin S, Nabavizadeh SH.   +4 more
europepmc   +1 more source

Targeted Medical Therapies for Vascular Anomalies: A Clinical Review

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Vascular anomalies represent a broad spectrum of disorders characterized by aberrant blood or lymphatic vessel development, which can lead to complex clinical phenotypes. Historically, vascular anomalies were classified solely on the basis of their clinical and histopathologic features.
Whitney Eng
wiley   +1 more source

Clinical relevant Bruton's X-linked tyrosine kinase deficiency in a female with extreme X-chromosome inactivation. [PDF]

Allergy Asthma Clin Immunol
NoorSaeed SM, Alrafiaah AS, Alghamdi M, Shapiro AJ, McCusker C.   +4 more
europepmc   +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

Early-onset systemic lupus erythematosus in a patient with an inborn error of immunity caused by a NRAS mutation and treated with telitacicept. [PDF]

Mol Cell Pediatr
Kang Z, Zhang L.
europepmc   +1 more source

Multimorbidity and animal models

Animal Models and Experimental Medicine, EarlyView.
Multimorbidity, defined as the coexistence of ≥2 chronic conditions, is associated with aging, genetics, and environmental factors. Animal models in multimorbidity research span three tiers: simple organisms for initial screening → rodents for mechanistic analysis → large mammals for clinical prediction.
Xinpei Wang, Yakun Ren, Xingjiu Yang, Mengyuan Li, Junxiu Liu, Xiaoyan Du, Wen Wang, Ran Gao   +7 more
wiley   +1 more source

Liver transplantation under cyclosporine: a decade of experience. [PDF]

, 1991
Fung, JJ, Gordon, RD, Iwatsuki, S, Starzl, TE, Staschak, SM, Stieber, A, Todo, S, Tzakis, AG   +7 more
core  

Human inborn errors of type I interferon-independent intrinsic immunity in nonleukocytic cells. [PDF]

Curr Opin Immunol
Zhang SY, Casanova JL, Spaan AN.
europepmc   +1 more source