Results 101 to 110 of about 82,801 (216)

A rare variant of dyskeratosis congenita: RTEL1 defect

open access: yesHematology, Transfusion and Cell Therapy, 2020
C. Coskun, S. Unal, N. Akarsu
doaj   +1 more source

Inflammation targets specific organs for cancer in carriers of BRCA1/2 pathway mutations [PDF]

open access: yes, 2010
Women who inherit a defective BRCA1 or BRCA2 gene have risks for breast/ovarian cancer that are so high and apparently so selective that many mutation carriers choose to have the most likely targets for cancer surgically removed.
Bernard Friedenson
core   +1 more source

Genomic, Pathway Network, and Immunologic Features Distinguishing Squamous Carcinomas [PDF]

open access: yes, 2018
This integrated, multiplatform PanCancer Atlas study co-mapped and identified distinguishing molecular features of squamous cell carcinomas (SCCs) from five sites associated with ...
Abdel-Rahman, Mohamed H.   +784 more
core   +2 more sources

FANCONI ANEMIA PRESENTING LATE AS MALIGNANT BUCCAL CARCINOMA; A CASE REPORT

open access: yesPakistan Armed Forces Medical Journal, 2020
Fanconi anemia (FA) is a rare, genetically and phenotypically heterogeneous autosomal recessive disorder. It is characterized by various congenital malformations, progressive bone marrow failure usually at a very young age and of tumor development.
Taimoor Ashraf Khan   +3 more
doaj  

Pregnancy after allogeneic hematopoietic stem cell transplantation in a Fanconi anemia patient

open access: yesInternational Medical Case Reports Journal, 2017
Simin Atashkhoei, Solmaz Fakhari, Eissa Bilehjani, Haleh Farzin Department of Anesthesiology, Al-Zahra Hospital, Tabriz University of Medical Sciences, Tabriz, Iran Abstract: Pregnancy in patients with Fanconi anemia (FA) is rare. However,
Atashkhoei S   +3 more
doaj  

Successful Treatment of Fanconi Anemia and T-Cell Acute Lymphoblastic Leukemia

open access: yesCase Reports in Hematology, 2012
Fanconi anemia is associated with an increased risk of malignancy. Patients are sensitive to the toxic effects of chemotherapy. We report the case of a patient with Fanconi anemia who developed T-cell acute lymphoblastic leukemia.
Terrie Flatt   +3 more
doaj   +1 more source

Investigation of FANCA mutations in greek patients [PDF]

open access: yes, 2013
Background: Fanconi anemia (FA) is a rare genetic disease characterized by considerable heterogeneity. Fifteen subtypes are currently recognised and deletions of the Fanconi anemia complementation group A (FANCA) gene account for more than 65% of FA ...
Fryssira, Elena   +8 more
core  

Novel homozygous mutation in the FANCA gene (c.2222G>A) in a Chinese girl of Fanconi anemia

open access: yesPediatric Discovery
Fanconi anemia is the most common inherited bone marrow failure syndrome. Its clinical manifestations include congenital dysplasia, bone marrow hematopoietic failure and tumor susceptibility.
Wen Xianhao   +3 more
doaj   +1 more source

Dental management of Fanconi anemia: a rare congenital disorder

open access: yesJournal of Rare Diseases
Purpose Fanconi anemia is a rare inherited genetic disorder that is characterized by all three defective blood cell lines such as reduced red blood cells, platelets, and white blood cells.
Jacqueline Jacinta Dias   +2 more
doaj   +1 more source

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