Results 31 to 40 of about 82,801 (216)

ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION IN FANCONI ANEMIA; A SINGLE CENTRE EXPERIENCE

Pakistan Armed Forces Medical Journal, 2021
Objective: To determine the treatment outcome of Hematopoietic stem cell transplantation in Fanconi Anemia. Study Design: Case series. Place and Duration of Study: Armed Forces Bone Marrow Transplant Center, Rawalpindi, from Jan 2001 to Jun 2018 ...
Tariq Azam Khattak, Muhammad Farhan, Tariq Ghafoor, Tariq Mahmood Satti, Qamar Un Nisa Chaudhry, Mehreen Ali Khan   +5 more
doaj   +1 more source

Fanconi Anemia

Journal of Microbiology & Experimentation
Bhandari J, Thada PK, Killeen RB, Puckett Y.   +3 more
europepmc   +4 more sources

Elevated levels of STAT1 in Fanconi anemia group A lymphoblasts correlate with the cells’ sensitivity to DNA interstrand crosslinking drugs

Haematologica, 2013
Progressive bone marrow failure starting in the first decade of life is one of the main characteristics of Fanconi anemia. Along with the bone marrow failure, this pathology is characterized by congenital malformations, endocrine dysfunction and an ...
Inés Prieto-Remón, Dámaso Sánchez-Carrera, Mónica López-Duarte, Carlos Richard, Carlos Pipaón   +4 more
doaj   +1 more source

Therapeutic target discovery using Boolean network attractors: avoiding pathological phenotypes [PDF]

, 2014
Target identification, one of the steps of drug discovery, aims at identifying biomolecules whose function should be therapeutically altered in order to cure the considered pathology.
Boissel, Jean-Pierre, Poret, Arnaud
core   +5 more sources

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

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

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

Concominitance of Fanconi Aplastic Anemia with Transverse Vaginal Septum

Ankara Üniversitesi Tıp Fakültesi Mecmuası, 2017
Fanconi anemia is a genetic defective hematopoesis condition characetrised by multipl congenital anomalies. Concomitance of genitourinary anomalies are 20%. There is lack of literature about concomitance of Fanconi anemia and transverse vaginal septum as
Günay Ekberli, Nil Yașam Taștekin, Ufuk Ateș, Gülnur Göllü Bahadır, Aydın Yağmurlu   +4 more
doaj   +1 more source

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