Fanconi Anemia and its Diagnosis

Por Auerbach, Arleen D.
Publicado em 2009

Diagnosis of Fanconi Anemia by Diepoxybutane Analysis

Por Auerbach, Arleen D.
Publicado no Curr Protoc Hum Genet (2015)

FANCJ/BRIP1 recruitment and regulation of FANCD2 in DNA damage responses

Por Zhang, Fan, Fan, Qiang, Ren, Keqin, Auerbach, Arleen D., Andreassen, Paul R.
Publicado no Chromosoma (2010)

Mutations of the SLX4 gene in Fanconi anemia

Por Kim, Yonghwan, Lach, Francis P., Desetty, Rohini, Hanenberg, Helmut, Auerbach, Arleen D., Smogorzewska, Agata
Publicado em 2011

Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4

Por Kim, Yonghwan, Spitz, Gabriella S., Veturi, Uma, Lach, Francis P., Auerbach, Arleen D., Smogorzewska, Agata
Publicado em 2013

Sequence variation in the Fanconi anemia gene FAA

Por Levran, Orna, Erlich, Tamar, Magdalena, Neiva, Gregory, John J., Batish, Sat Dev, Verlander, Peter C., Auerbach, Arleen D.
Publicado em 1997

Post-operative Clinical Radiosensitivity in Fanconi Anemia Patients with Head and Neck Squamous Cell Carcinomas

Por Birkeland, Andrew C., Auerbach, Arleen D., Sanborn, Erica, Parashar, Bhupesh, Kuhel, William I., Chandrasekharappa, Settara C., Smogorzewska, Agata, Kutler, David I.
Publicado em 2011

Unrelated donor bone marrow transplantation for the treatment of Fanconi anemia

Por Wagner, John E., Eapen, Mary, MacMillan, Margaret L., Harris, Richard E., Pasquini, Ricardo, Boulad, Farid, Zhang, Mei-Jie, Auerbach, Arleen D.
Publicado em 2007

Somatic mosaicism in Fanconi anemia: Evidence of genotypic reversion in lymphohematopoietic stem cells

Por Gregory, John J., Wagner, John E., Verlander, Peter C., Levran, Orna, Batish, Sat Dev, Eide, Cindy R., Steffenhagen, Amy, Hirsch, Betsy, Auerbach, Arleen D.
Publicado em 2001

FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathway

Por Ali, Abdullah Mahmood, Pradhan, Arun, Singh, Thiyam Ramsingh, Du, Changhu, Li, Jie, Wahengbam, Kebola, Grassman, Elke, Auerbach, Arleen D., Pang, Qishen, Meetei, Amom Ruhikanta
Publicado em 2012

Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene

Por Alder, Jonathan K., Parry, Erin M., Yegnasubramanian, Srinivasan, Wagner, Christa L., Lieblich, Lawrence M., Auerbach, Robert, Auerbach, Arleen D., Wheelan, Sarah J., Armanios, Mary
Publicado em 2013

Natural History and Management of Fanconi Anemia Patients with Head and Neck Cancer: A 10-year Follow-up

Por Kutler, David I., Patel, Krupa R., Auerbach, Arleen D., Kennedy, Jennifer, Lach, Francis P., Sanborn, Erica, Cohen, Marc A., Kuhel, William I., Smogorzewska, Agata
Publicado no Laryngoscope (2015)

Identification and Characterization of Mutations in FANCL Gene: a Second Case of Fanconi Anemia Belonging to FA-L Complementation Group

Por Ali, Abdullah Mahmood, Kirby, Michelle, Jansen, Michael, Lach, Francis P., Schulte, Jennifer, Singh, Thiyam Ramsing, Batish, Sat D., Auerbach, Arleen D., Williams, David A., Meetei, Amom Ruhikanta
Publicado em 2009

Correct mRNA Processing at a Mutant TT Splice Donor in FANCC Ameliorates the Clinical Phenotype in Patients and Is Enhanced by Delivery of Suppressor U1 snRNAs

Por Hartmann, Linda, Neveling, Kornelia, Borkens, Stephanie, Schneider, Hildegard, Freund, Marcel, Grassman, Elke, Theiss, Stephan, Wawer, Angela, Burdach, Stefan, Auerbach, Arleen D., Schindler, Detlev, Hanenberg, Helmut, Schaal, Heiner
Publicado em 2010

Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia

Por Chandrasekharappa, Settara C., Lach, Francis P., Kimble, Danielle C., Kamat, Aparna, Teer, Jamie K., Donovan, Frank X., Flynn, Elizabeth, Sen, Shurjo K., Thongthip, Supawat, Sanborn, Erica, Smogorzewska, Agata, Auerbach, Arleen D., Ostrander, Elaine A.
Publicado em 2013

Deficiency of UBE2T, the E2 ubiquitin ligase necessary for FANCD2 and FANCI ubiquitination, causes FA-T subtype of Fanconi anemia

Por Rickman, Kimberly A., Lach, Francis P., Abhyankar, Avinash, Donovan, Frank X., Sanborn, Erica M., Kennedy, Jennifer A., Sougnez, Carrie, Gabriel, Stacey B., Elemento, Olivier, Chandrasekharappa, Settara C., Schindler, Detlev, Auerbach, Arleen D., Smogorzewska, Agata
Publicado no Cell Rep (2015)

Sensitive Quantification of Mosaicism Using High Density SNP Arrays and the Cumulative Distribution Function

Por Markello, Thomas C., Carlson-Donohoe, Hannah, Sincan, Murat, Adams, David, Bodine, David M., Farrar, Jason E., Vlachos, Adrianna, Lipton, Jeffrey M., Auerbach, Arleen D., Ostrander, Elaine A., Chandrasekharappa, Settara C., Boerkoel, Cornelius F., Gahl, William A.
Publicado em 2011

Genetic Heterogeneity among Fanconi Anemia Heterozygotes and Risk of Cancer

Por Berwick, Marianne, Satagopan, Jaya M., Ben-Porat, Leah, Carlson, Ann, Mah, Katherine, Henry, Rashida, Diotti, Raffaella, Milton, Kelly, Pujara, Kanan, Landers, Tom, Batish, Sat Dev, Morales, José, Schindler, Detlev, Hanenberg, Helmut, Hromas, Robert, Levran, Orna, Auerbach, Arleen D.
Publicado em 2007

A dominant mutation in human RAD51 reveals its function in DNA interstrand crosslink repair independent of homologous recombination

Por Wang, Anderson T., Kim, Taeho, Wagner, John E., Conti, Brooke A., Lach, Francis P., Huang, Athena L., Molina, Henrik, Sanborn, Erica M., Zierhut, Heather, Cornes, Belinda K., Abhyankar, Avinash, Sougnez, Carrie, Gabriel, Stacey B., Auerbach, Arleen D., Kowalczykowski, Stephen C., Smogorzewska, Agata
Publicado no Mol Cell (2015)

Paternal or maternal uniparental disomy of chromosome 16 resulting in homozygosity of a mutant allele causes Fanconi anemia

Por Donovan, Frank X., Kimble, Danielle C., Kim, Yonghwan, Lach, Francis P., Harper, Ursula, Kamat, Aparna, Jones, MaryPat, Sanborn, Erica M., Tryon, Rebecca, Wagner, John E., MacMillan, Margaret L., Ostrander, Elaine A., Auerbach, Arleen D., Smogorzewska, Agata, Chandrasekharappa, Settara C.
Publicado no Hum Mutat (2016)