Results 21 to 30 of about 1,177,821 (205)

Cancer incidence in relatives of British Fanconi Anaemia patients. [PDF]

, 2008
BACKGROUND: Fanconi anemia (FA) is an autosomal recessive DNA repair disorder with affected individuals having a high risk of developing acute myeloid leukaemia and certain solid tumours. Thirteen complementation groups have been identified and the genes
Ball Jan, Mathew, CG, Tischkowitz, Marc, Hodgson, SV, Hodgson Shirley V, Tischkowitz Marc, Easton, DF, Ball, J, Mathew Christopher G, Mathew, Christopher G.; id_orcid, Tischkowitz, M, Easton Douglas F, Ball, Jan, Hodgson, Shirley V., Easton, Douglas F.   +14 more
core   +3 more sources

Oral and Dental Manifestations of Fanconi Anemia

Galician Medical Journal, 2021
Fanconi anemia is a rare disease, which is characterized by decreased production of all blood cell types. Fanconi anemia is the most common inherited form of aplastic anemia.
Vesna Ambarkova
doaj   +1 more source

Fanconi syndrome due to prolonged use of low-dose adefovir

Journal of Research in Medical Sciences, 2015
Fanconi syndrome results from a generalized abnormality of the proximal tubules of the kidney and owing to phosphate depletion can cause hypophosphatemic osteomalacia.
Xiao-Bing Wang, Xiao-Chun Zhu, Xiao-Ying Huang, Wen-Jing Ye, Liang-Xing Wang   +4 more
doaj   +1 more source

Fanconi or not Fanconi? Lowe Syndrome Revisited [PDF]

Clinical Journal of the American Society of Nephrology, 2008
Renal Fanconi syndromes are both clinically challenging and physiologically fascinating. The diagnosis requires a certain index of suspicion to correctly identify the clinical symptomatology and pursue the appropriate laboratory evaluations. With regard to the pathophysiology, the renal proximal tubule is the site of action.
openaire   +2 more sources

Hypomorphic Mutations in the Central Fanconi Anemia Gene FANCD2 Sustain a Significant Group of FA-D2 Patients with Severe Phenotype. Running title : FA-D2 phenotype and FANCD2 mutations [PDF]

, 2007
Premi a l'excel·lència investigadora. Àmbit de les Ciències de la Salut. 2008FANCD2 is an evolutionarily conserved Fanconi anemia (FA) gene that plays a central role in DNA double-strand type damage responses.
Detlev Schindler, Casado, José A., Bueren, Juan, Schindler, Detlev, Arleen D. Auerbach, Holger Hoehn, Schneider, Hildegard, Kornelia Neveling, Elsa Callén, Kalba, Reinhard, Berwick, Marianne, Jean Soulier, Hunt, Curtis, Pals, Gerard, Rosalina van Spaendonk, Gluckman, Eliane, Callén Moréu, Elsa, Joenje, Hans, Kalb, Reinhard, Batish, Sat Dev, Soulier, Jean, Juan Bueren, Hanenberg, Helmut, Helmut Hanenberg, C. Michel Zwaan, Linka, Yvonne, Winter, Johan P. de, Eliane Gluckman, Neveling, Kornelia, Yvonne Linka, Hans Joenje, Markus Grompe, Johan P. de Winter, Grompe, Markus, Zwaan, C. Michel, Reinhard Kalb, Hoehn, Holger, Auerbach, Arleen D., Jordi Surrallés, Ángeles Dasí, de Winter, Johan P., Dasí, Ángeles, Marianne Berwick, José A. Casado, Sat Dev Batish, Curtis Hunt, Van Spaendonk, Rosalina, Callén, Elsa, Hildegard Schneider, Batishb, Sat Dev, Gerard Pals, Bueren, J, Dasi, A, Neveling, K, Schindler, D, Hunt, C, Berwick, M, Hanenberg, H, Callen, E, Gluckman, E, de Winter, JP (Johan), Auerbach, AD, Zwaan, C.M., Surralles, Jordi, Schneider, H, van Spaendonk, RML (Rosalina), Joenje, H, Grompe, M, Hoehn, H, Casado, JA, Pals, G, Soulier, J, Surralles, J, Kalb, R, Batish, SD, Linka, Y   +75 more
core   +1 more source

Transient acquired Fanconi syndrome with unusual and rare aetiologies: A case study of two dogs

Veterinární Medicína, 2020
The acquired form of Fanconi syndrome is seldom identified in dogs; those cases that have been reported have been secondary to hepatic copper toxicosis, primary hypoparathyroidism, ingestion of chicken jerky treats, exposure to ethylene glycol, or ...
Ju-Yong Park, Ji-Hwan Park, Hyun-Jung Han, Jung-Hyun Kim   +3 more
doaj   +1 more source

HNF4A-related Fanconi syndrome in a Chinese patient: a case report and review of the literature

Journal of Medical Case Reports, 2018
Background The p.R63W mutation in hepatocyte nuclear factor-4 alpha (HNF4A) leads to a heterogeneous group of disorders with various clinical presentations.
Jiaojiao Liu, Qian Shen, Guomin Li, Hong Xu   +3 more
doaj   +1 more source

Proximal renal tubular acidosis with and without Fanconi syndrome

Kidney Research and Clinical Practice, 2019
Proximal renal tubular acidosis (RTA) is caused by a defect in bicarbonate (HCO3−) reabsorption in the kidney proximal convoluted tubule. It usually manifests as normal anion-gap metabolic acidosis due to HCO3− wastage.
Ibrahim Kashoor, Daniel Batlle
doaj   +1 more source

Anesthesia for a patient with Fanconi anemia for developmental dislocation of the hip: a case report

Brazilian Journal of Anesthesiology, 2014
Fanconi anemia is a rare autosomal recessive inherited bone marrow failure syndrome with congenital and hematological abnormalities. Literature regarding the anesthetic management in these patients is limited.
Zafer Dogan, Huseyin Yildiz, Ismail Coskuner, Murat Uzel, Mesut Garipardic   +4 more
doaj   +3 more sources

A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis

The Turkish Journal of Pediatrics, 2017
Fanconi-Bickel syndrome is a rare autosomal recessive disorder of carbohydrate metabolism, caused by mutations in the SLC2A2 gene, that codes for the glucose transporter protein 2 (GLUT2).
Tuğba Taştemel-Öztürk, Berrak Bilginer-Gürbüz, Özlem Tekşam, Serap Sivri   +3 more
doaj   +1 more source