Results 61 to 70 of about 2,289,814 (238)

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

A Population‐Based Assessment of Cancer Risk in Children With VACTERL

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark, Alexander Renwick, Giorgio Tettamanti, Rachel D. Harris, Tania A. Desrosiers, Andrew F. Olshan, Amanda E. Janitz, Michael E. Scheurer, Charles J. Shumate, Angela E. Scheuerle, Sharon E. Plon, Chad D. Huff, Ann Nordgren, Barbara Luke, Philip J. Lupo, Jeremy M. Schraw   +15 more
wiley   +1 more source

Pyoderma gangrenosum: a presenting sign of myelodysplastic syndrome in undiagnosed Fanconi anemia [PDF]

, 2019
A 26-year-old man with a history of congenital bilateral microtia, unilateral renal agenesis, left aural atresia, and right external auditory canal occlusion admitted for right rib cartilage graft harvest and left ear re-construction.
Kandula, Prasanthi, Le, Cuong, Shah, Kishan M., Wolverton, Jay E., Wolverton, Stephen E.   +4 more
core  

Engineering Dosimetric Excellence In Total Body Irradiation: Tomotherapy‐Driven Protocols for Precision and Reproducibility

Precision Radiation Oncology, EarlyView.
• Objective: Assess helical Tomotherapy‐based TBI for clinical feasibility, dosimetric reproducibility, and in‐vivo accuracy using dual‐orientation simulation and patient‐specific QA. • Methodology: Implementation of ArcCHECK 3D diode array, ionization chamber verification, and in‐vivo dosimetry with OSLDs at 16 anatomical sites to ensure precise dose ...
Sandeep Singh, Dipesh, Supratik Sen, Abhay Kumar Singh, Mahipal, Manindra Bhushan, Jaskaran Singh Sethi, David K. Simson, Munish Gairola   +8 more
wiley   +1 more source

L’anémie de Fanconi : gènes et fonction(s) revisités [PDF]

, 2005
Des mutations dans les gènes FANC sont responsables de l’anémie de Fanconi (AF), une maladie génétique de phénotype complexe incluant une pancytopénie, des malformations congénitales et une prédisposition élevée au cancer.
Moustacchi, Ethel, Papadopoulo, Dora
core   +1 more source

Fanconi syndrome due to tenofovir disoproxil fumarate reversed by switching to tenofovir alafenamide fumarate in an HIV-infected patient

Therapeutic Advances in Infectious Disease, 2018
A case of tenofovir-induced Fanconi syndrome in a patient receiving antiretroviral therapy for HIV infection, with resolution of the related electrolyte abnormalities upon switch from tenofovir disoproxil fumarate to tenofovir alafenamide fumarate, is ...
Nomvuyo Z. Mothobi, Jeffrey Masters, D. Marriott   +2 more
semanticscholar   +1 more source

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, EarlyView.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source

Clinical manifestation and genetic findings in three boys with low molecular Weight Proteinuria - three case reports for exploring Dent Disease and Fanconi syndrome

BMC Nephrology, 2021
Background Dent disease is an X-linked form of progressive renal disease. This rare disorder was characterized by hypercalciuria, low molecular weight (LMW) proteinuria and proximal tubular dysfunction, caused by pathogenic variants in CLCN5 (Dent ...
Nan Duan, Chenwei Huang, Lu Pang, Shiju Jiang, Wenshuang Yang, Haixia Li   +5 more
doaj   +1 more source

A theory for the tissue specificity of BRCA1/2 related and other hereditary cancers [PDF]

, 2010
Women who inherit a defective BRCA1 or BRCA2 gene have risks for breast and ovarian cancer that are so high and seem so selective that many mutation carriers choose to have prophylactic surgery. There has been much conjecture to explain such apparently
Bernard Friedenson
core   +1 more source

Regulation of R‐Loop Dynamics by Proteins and Long Noncoding RNAs: An Emerging Paradigm for Cancer Treatment

Cancer Science, EarlyView.
R‐loops are three‐stranded nucleic acid structures whose dysregulation leads to genomic instability and cancer progression. This review summarizes the protein and lncRNA machineries that regulate R‐loop dynamics and discusses the therapeutic potential of targeting these pathways in cancer.
Miho M. Suzuki, Keiko Shinjo, Tatsunori Nishimura, Yutaka Kondo   +3 more
wiley   +1 more source