Results 31 to 40 of about 70,491 (173)

Urothelial carcinoma within the prostatic utricle of an adult with hypospadias and Fanconi anemia

Urology Case Reports, 2020
Prostatic utricles are rare in the general population and are often otherwise unremarkable anatomic variants. These structures are contiguous with the prostatic urethra and are nevertheless susceptible to urothelial carcinoma.
Kevin Pineault, Ridwan Alam, Alexa Meyer, Michael H. Johnson   +3 more
doaj   +1 more source

Associated Congenital Abnormalities and Physical Phenotype in Patients with Diamond–Blackfan Anemia May Be Overlooked

Turkish Archives of Pediatrics
Objective: Diamond–Blackfan anemia (DBA) is a rare and inherited form of erythroid aplasia, characterized by severe macrocytic anemia, congenital malformations, and predisposition to cancer.
Gulare Soltanova, Nihan Avcu Oral, Fatma Gümrük, Pelin Özlem Şimşek Kiper, Şule Ünal   +4 more
doaj   +1 more source

Twenty years of the Italian Fanconi Anemia Registry: where we stand and what remains to be learned

Haematologica, 2016
The natural history of Fanconi anemia remains hard to establish because of its rarity and its heterogeneous clinical presentation; since 1994, the Italian Fanconi Anemia Registry has collected clinical, epidemiological and genetic data of Italian Fanconi
Antonio M. Risitano, Serena Marotta, Rita Calzone, Francesco Grimaldi, Adriana Zatterale   +4 more
doaj   +1 more source

Nursing diagnosis after hematopoietic stem cell transplant due to Fanconi anemia

Revista Brasileira de Enfermagem, 2021
Objectives: to identify nursing diagnoses in patients who underwent hematopoietic stem-cell transplants due to Fanconi anemia, according to the NANDA-I taxonomy.
Lara Cássia Silva Sandri, Letícia Pontes, Carmem Maria Sales Bonfim, Solena Ziemer Kusma   +3 more
doaj   +2 more sources

Novel Founder Mutation in FANCA Gene (c.3446_3449dupCCCT) Among Romani Patients from the Balkan Region

Balkan Medical Journal, 2018
Background: Fanconi anemia is a rare autosomal recessive or X-linked disorder characterised by clinical and genetic heterogeneity. Most fanconi anemia patients harbour homozygous or double heterozygous mutations in the FANCA (60-65%), FANCC (10-15 ...
Marija Dimishkovska, Vjosa Mulliqi Kotori, Zoran Gucev, Svetlana Kocheva, Momir Polenakovic, Dijana Plaseska-Karanfilska   +5 more
doaj   +1 more source

Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population – case report

Molecular Cytogenetics, 2020
Background Fanconi anemia is a rare genetic disorder caused by mutations in genes which protein products are involved in replication, cell cycle control and DNA repair.
Anna Repczynska, Agata Pastorczak, Katarzyna Babol-Pokora, Jolanta Skalska-Sadowska, Malgorzata Drozniewska, Wojciech Mlynarski, Olga Haus   +6 more
doaj   +1 more source

Influence of catalase on the radiosensitivity of Fanconi anemia lymphocytes in vitro [PDF]

Archives of Biological Sciences, 2009
Fanconi anemia (FA) is a genetic disease characterized by progressive pancytopenia and cancer susceptibil­ity. The clinical and cellular phenotypes of Fanconi anemia are associated with a set of redox abnormalities, indicating that FA is an oxidative ...
Petrović Sandra, Vujić Dragana, Guć-Šćekić Marija, Leskovac Andreja, Jevtić Dragana, Joksić Gordana   +5 more
doaj   +1 more source

Finding novel vulnerabilities of hypomorphic BRCA1 alleles

Molecular Oncology, EarlyView.
Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder, Klaas de Lint, Hồ Mỹ Phúc Võ, Mariana M. Góis, Rosalie A. Kampen, Marta San Martin Alonso, Ilse Nootenboom, Veronica Garzero, Tiemen J. Wendel, Rob M. F. Wolthuis, Sylvie M. Noordermeer   +10 more
wiley   +1 more source

Mutated Fanconi anemia pathway in non-Fanconi anemia cancers

Oncotarget, 2015
An extremely high cancer incidence and the hypersensitivity to DNA crosslinking agents associated with Fanconi Anemia (FA) have marked it to be a unique genetic model system to study human cancer etiology and treatment, which has emerged an intense area of investigation in cancer research.
Yihang, Shen, Yuan-Hao, Lee, Jayabal, Panneerselvam, Jun, Zhang, Lenora W M, Loo, Peiwen, Fei   +5 more
openaire   +3 more sources

Fertility recovery and pregnancy after allogeneic hematopoietic stem cell transplantation in Fanconi anemia patients

Haematologica, 2010
Reduced fertility is one clinical manifestation among other well known Fanconi anemia features. Most recipients of allogeneic hematopoietic stem cell transplantation suffer from secondary infertility owing to gonadal damage from myeloablative ...
Samir K. Nabhan, Marco A. Bitencourt, Michel Duval, Manuel Abecasis, Carlo Dufour, Karim Boudjedir, Vanderson Rocha, Gérard Socié, Jakob Passweg, Kumiko Goi, Jean Sanders, John Snowden, Hiromasa Yabe, Ricardo Pasquini, Eliane Gluckman   +14 more
doaj   +1 more source