Results 171 to 180 of about 85,361 (267)

Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients

, 2017
Bruna Lucheze Freire, Thaís Kataoka Homma, Mariana F.A. Funari, Antônio Marcondes Lerário, A. Leal, Elvira Deolinda Rodrigues Pereira Velloso, Alexsandra C. Malaquias, Alexander A.L. Jorge   +7 more
openalex   +1 more source

Exploring the druggable space around the Fanconi anemia pathway using machine learning and mechanistic models [PDF]

, 2019
Marina Esteban‐Medina, María Peña-Chilet, Carlos Loucera, Joaquı́n Dopazo   +3 more
openalex   +1 more source

Case Report: Eltrombopag in mosaic and gene therapy-treated patients with Fanconi anemia. [PDF]

Front Pediatr
Zubicaray J, Iriondo J, Sebastián E, Sanz A, Rio P, Soulier J, San Román S, Uriz JJ, Navarro S, Nicoletti E, Bueren JA, Schwartz JD, Sevilla J.   +12 more
europepmc   +1 more source

DESORDENS ORAIS POTENCIALMENTE MALIGNAS EM PACIENTES COM ANEMIA DE FANCONI: UM ESTUDO TRANSVERSAL

JL Vendruscolo, BS Ballardin, CC Torres-Pereira   +2 more
openalex   +1 more source

A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype

, 2020
Laura Schultz‐Rogers, Francis P. Lach, Kimberly A. Rickman, Alejandro Ferrer, Abhishek A. Mangaonkar, Tanya L. Schwab, Christopher T. Schmitz, Karl J. Clark, Nikita R. Dsouza, Michael T. Zimmermann, Mark R. Litzow, Nicole Jacobi, Eric W. Klee, Agata Smogorzewska, Mrinal M. Patnaik   +14 more
openalex   +2 more sources

Fanconi anemia and the cell cycle: new perspectives on aneuploidy [PDF]

, 2014
Grzegorz Nalepa, D. Wade Clapp
openalex   +1 more source

Structural basis of Fanconi anemia pathway activation by FANCM. [PDF]

EMBO J
Bythell-Douglas R, van Twest S, Abbouche L, Dunn E, Coulthard RJ, Briggs DC, Murphy V, Zhang X, Tan W, Henrikus SS, Qian D, Wu Y, Wolf J, Rigoreau L, Shakeel S, Chapman KL, McDonald NQ, Deans AJ.   +17 more
europepmc   +1 more source

The Fanconi anemia polypeptide FACC is localized to the cytoplasm.

, 1994
Takayuki Yamashita, Dwayne L. Barber, Yong Zhu, Nan Wu, Alan D. D’Andrea   +4 more
openalex   +2 more sources

Head and Neck Cancer in Fanconi Anemia: Clinical Challenges and Molecular Insights into a DNA Repair Disorder. [PDF]

Cancers (Basel)
Choi J, Jung M.
europepmc   +1 more source

High Burden of Non-Clonal Chromosome Aberrations Before Onset of Detectable Neoplasia in Fanconi Anemia Bone Marrow

Sílvia Sánchez, Benilde García‐de Teresa, Marco A. Mejía-Barrera, Pedro A. Reyes, Antonio Paz-Martínez, Miguel A. Martínez, Moisés Ó. Fiesco-Roa, Angélica Monsiváis-Orozco, Bertha Molina, Leda Torres, Alfredo E. Rodríguez, Sara Frı́as   +11 more
openalex   +2 more sources