Results 181 to 190 of about 677,185 (349)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Partial Anterior Opercular Syndrome as Surgical Complication: Case Presentation and Brief Review of Literature. [PDF]

Case Rep Neurol Med
Salomi F, Ferrari E, Zangrossi P, Tinti L, Terzaghi M, Guerrini F, Spena G.   +6 more
europepmc   +1 more source

Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT RET gene is a driver of thyroid cancer (TC) tumorigenesis. The incidence of TC has increased worldwide in the last few decades, both in medullary and follicular‐derived subtypes. Several drugs, including multikinase and selective inhibitors, have been explored.
Sara Gil‐Bernabé, Lucía García‐DeLaFuente, Alejandro García‐Álvarez, Ginesa García‐Rostán, Jaume Capdevila, Jorge Hernando   +5 more
wiley   +1 more source

Patient-reported oral adverse events during cancer chemotherapy: longitudinal evaluation using patient-reported outcomes version of the common terminology criteria for adverse events (PRO-CTCAE) and concordance with clinician assessments. [PDF]

Support Care Cancer
Sakai Y, Katsura K, Kanemitsu Y, Kotake M, Toyama A.   +4 more
europepmc   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Barriers to early diagnosis and treatment of oral cancer in countries in Africa: a scoping review. [PDF]

BMC Oral Health
Sharkawy MN, Amin MS, Foláyan MO.
europepmc   +1 more source

Development of an efficient mice model of cancer‐associated cardiac cachexia

Animal Models and Experimental Medicine, EarlyView.
This work establishes a preclinical framework for targeting ubiquitin pathways to mitigate the morbidity of cancer‐related cardiopathy. Our integrated approach delineates a hierarchical progression from subcellular dysfunction to macroscopic cardiac deterioration. These findings mechanistically link tumor‐induced cachexia to cardiac dysfunction through
Shijie Xiong, Huiting Zheng, Teng Wu, Jing Tan, Tongsheng Huang, Conghui Shen, Yuanjun Ji, Mengying Liu, Junhong Wan, Weibin Cai   +9 more
wiley   +1 more source

Reconstruction of Surgical Defects of the Oral Cavity with Bilayer Dermal Matrix: Our Experience. [PDF]

J Clin Med
Ferri A, David M, Salti G, Lilloni G, Bianchi B, Ferrari S.   +5 more
europepmc   +1 more source

Trametinib in Adults with Neurofibromatosis Type 1‐Related Symptomatic Plexiform Neurofibromas

Annals of Neurology, EarlyView.
Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
D. Christine Noordhoek, David F. Hanff, Pim J. French, Sarah A. van Dijk, Erik A.C. Wiemer, Olivier C. Manintveld, Martin J. van den Bent, Walter Taal   +7 more
wiley   +1 more source

Frequency and Characteristics of Craniomaxillofacial Tumors: A Five-Year Retrospective Institutional Study. [PDF]

J Clin Med
Constantin GD, Veja I, Niculescu ST, Mazilescu CA, Hoinoiu T, Buda VO, Oancea R.   +6 more
europepmc   +1 more source