Results 61 to 70 of about 41,808 (221)

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

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1004-1011, May 2026.
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

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

Wissler-Fanconi syndrome and related diagnoses: a case report

Open Access Rheumatology: Research and Reviews, 2016
Mustafa Q Albustani,1 Robert F Howard2 1Section of Medicine/Pediatrics, The University of Oklahoma College of Medicine, Tulsa, OK, USA; 2Division of Rheumatology, Utica Park Clinic, Tulsa, OK, USA Introduction: Wissler–Fanconi syndrome is a rare ...
Albustani MQ, Howard RF
doaj  

Integrated Molecular Profiling Improves Subtype Classification and Reveals Inherited Susceptibility in Medulloblastoma: Insights From a Real‐World Cohort

Cancer Medicine, Volume 15, Issue 5, May 2026.
ABSTRACT Background Medulloblastoma (MB) is a heterogeneous pediatric brain tumor characterized by distinct molecular subtypes. Although genomics and transcriptomics have improved subtype classification and informed targeted therapies, the clinical utility of integrated molecular profiling in real‐world settings remains incompletely defined. Methods We
Jiwei Song, Tiantian Han, Siqi Chen, Dongsheng Chen, Ziying Liu   +4 more
wiley   +1 more source

Fanconi anemia cells with unrepaired DNA damage activate components of the checkpoint recovery process [PDF]

, 2015
International audienceBACKGROUND:The FA/BRCA pathway repairs DNA interstrand crosslinks. Mutations in this pathway cause Fanconi anemia (FA), a chromosome instability syndrome with bone marrow failure and cancer predisposition.
Azpeitia, Eugenio, Cortes, Edith, Frias, Sara, Garcia-de Teresa, Benilde, Juarez, Ulises, Mendoza, Luis, Ortiz, Rocio, Ostrosky-Wegman, Patricia, Rodriguez, Alfredo, Salazar, Ana M., Sosa, David, Torres, Leda   +11 more
core   +4 more sources

Adefovir dipivoxil-induced development of osteomalacia and Fanconi syndrome during the treatment of hepatitis B virus (HBV)-related cirrhosis

Clinical Management Issues, 2014
Adefovir dipivoxil is a nucleotide analog reverse transcriptase inhibitor used to treat adult patients affected by HBeAg-positive and HBeAg-negative chronic hepatitis B and with clinical evidence of lamivudine-resistant hepatitis B virus (HBV).
Orietta Staltari, Benedetto Caroleo, Andzelika Michniewicz, Giovambattista De Sarro, Franco Perticone, Luca Gallelli   +5 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation inSLC2A2 Gene

Haseki Tıp Bülteni, 2019
Fanconi-Bickel syndrome is a metabolic disease caused by mutations in SCL2A2 gene. Hepatic and renal glycogen storage, fasting hypoglycemia, and renal tubular dysfunction are characteristics of the disease that is usually diagnosed at 6-10 months of age.
Ezgi Çelikboya, Mehmet Şerif Cansever, Tanyel Zübarioğlu, Gözde Yeşil, Nurver Akıncı   +4 more
doaj   +1 more source

Denosumab improves clinical manifestations of hypophosphatemic osteomalacia by adefovir-induced Fanconi syndrome: a case report

Journal of Medical Case Reports, 2019
Background Adefovir dipivoxil is a nucleotide analogue that is approved for treatment of chronic hepatitis B. Adefovir dipivoxil is associated with proximal tubular dysfunction, resulting in Fanconi syndrome, which can cause secondary hypophosphatemic ...
Tomohisa Kunii, Toshie Iijima, Teruo Jojima, Masanori Shimizu, Masato Kase, Shintaro Sakurai, Takahiko Kogai, Isao Usui, Yoshimasa Aso   +8 more
doaj   +1 more source

Renal tubular acidosis: A ‘basic’ disorder

Equine Veterinary Education, EarlyView.
H. J. Mason, L. G. Arroyo
wiley   +1 more source