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Journal Articles

Fanconi Anemia: A Paradigm for Understanding DNA Repair During Replication.

Agata Smogorzewska, MD PhD

Blood (2019) 134 (Supplement_1): SCI-32.

https://doi.org/10.1182/blood-2019-121229

Published: 2019

Journal Articles

Phase II Study of Eltrombopag in Subjects with Fanconi Anemia

Daisuke Araki, MD, Ma Evette Barranta, Fariba Chinian, MS, Julie Erb-Alvarez, MPH, Thomas Winkler, MD, Neelam Giri, MD, Andre Larochelle, MD PhD

Blood (2019) 134 (Supplement_1): 3753.

https://doi.org/10.1182/blood-2019-123151

Published: 2019

Journal Articles

Characterization of Pathogenic Variants and Clinical Phenotypes in 117 Japanese Fanconi Anemia Patients

Minako Mori, MD, Asuka Hira, MD PhD, Kenichi Yoshida, MD PhD, Hideki Muramatsu, MD PhD, Yusuke Okuno, MD PhD, Michiko Anmae, MS, Kazuo Tamura, MD PhD, Jun Yasuda, MD PhD, Tomoo Osumi, MD, Yasushi Noguchi, MD, Souichi Adachi, MD PhD, Hiroshi Kawabata, MD PhD, Akifumi Takaori-Kondo, MD PhD, Seiji Kojima, MD PhD, Seishi Ogawa, MD PhD, Hiromasa Yabe, MD, PhD, Miharu Yabe, MD PhD, Minoru Takata, MD PhD

Blood (2018) 132 (Supplement 1): 3860.

https://doi.org/10.1182/blood-2018-99-110362

Published: 2018

Journal Articles

A Clinical, Genomic and Proteomic Approach for the Characterization of Fanconi Anemia in Adolescent and Young Adult (AYA) Patients : A Single Center Study of 55 Patients from a National Bone Marrow Failure Referral Center

Blood (2018) 132 (Supplement 1): 2594.

https://doi.org/10.1182/blood-2018-99-114639

Published: 2018

Journal Articles

Excellent Outcome of Alternative Donor HSCT in Fanconi Anemia Using Chemotherapy Only Regimen: Single Korean Institution Experience

Seong-koo Kim, MD, Jae Wook Lee, Pil-Sang Jang, Nack-Gyun Chung, Bin Cho, MD PhD, Jong-Wook Lee, MD

Blood (2017) 130 (Supplement 1): 5556.

https://doi.org/10.1182/blood.V130.Suppl_1.5556.5556

Published: 2017

Journal Articles

Clonal Cytogenetic Abnormalities in Myeloid Neoplasms Arising from Fanconi Anemia — a Single Center Study from India

Nancy Beryl Janet Arthur, MRCPath, MS, MSc, Vivi M Srivastava, MD, Gaurav Joshi, M.Sc, Anu Korula, MD DM, Anup Joseph Devasia, MD DM, Nisham PN, MD DM, Uday Prakash Kulkarni, MD DM, Alok Srivastava, MD, Vikram Mathews, MD DM, Shaji Ramachandran Velayudhan, M.Sc., PhD, Biju George, MDDM

Blood (2017) 130 (Supplement 1): 4956.

https://doi.org/10.1182/blood.V130.Suppl_1.4956.4956

Published: 2017

Journal Articles

Hyperactive Non-Canonical TGF-β Pathway Signaling in Fanconi Anemia Bone Marrow Stromal Cells Contributes to Growth Suppression

Kevin O'Connor, Sofia Vidal-Cardenas, PhD, Haojian Zhang, PhD, Alfredo Rodriguez, Lisa Moreau, Chunyu Yang, Michael W Epperly, PhD, Markus Grompe, MD, Akiko Shimamura, MD PhD, Joel S. Greenberger, MD, Kalindi Parmar, PhD, Alan D D'Andrea, MD

Blood (2016) 128 (22): 1039.

https://doi.org/10.1182/blood.V128.22.1039.1039

Published: 2016

Journal Articles

Telomere Shortening, TP53 Mutations and Deletions in Chronic Lymphocytic Leukemia Result in Increased Chromosomal Instability and Breakpoint Clustering in Heterochromatic Regions

Gudrun Göhring, MD, Kathrin Thomay, Dr. rer. nat., Caroline Fedder, MD, Winfried Hofmann, Dr. rer. nat., Hans Heinrich Kreipe, MD, Brigitte Schlegelberger, Prof, MD

Blood (2016) 128 (22): 3220.

https://doi.org/10.1182/blood.V128.22.3220.3220

Published: 2016

Journal Articles

The Significance of the Next Generation Targeted Sequencing in the Precise Diagnosis of Pediatric Acquire Aplastic Anemia and Inherited Bone Marrow Failure Syndromes

Wenbin An, MD, Ye Guo, Yumei Chen, Yao Zou, Xiaojuan Chen, Wenyu Yang, Lixian Chang, MD, Yang Wan, MD, Xiaofan Zhu, MD

Blood (2016) 128 (22): 3908.

https://doi.org/10.1182/blood.V128.22.3908.3908

Published: 2016

Journal Articles

A Homozygous Germ Line Nonsense Mutation in BRCA1 Leading Fanconi Anemia and Neuroblastoma

Demirel Mehmet, Sule Unal, Fatma Gumruk, Nurten Ayse Akarsu

Blood (2016) 128 (22): 5073.

https://doi.org/10.1182/blood.V128.22.5073.5073

Published: 2016

Journal Articles

Clinical Spectrum of Germline Mutations with Predisposition to Myeloid Neoplasms- 2016 World Health Organization Classification Update

Thanh Ho, MD, Juliana Perez Botero, MD, William J Hogan, MBChB, Saad S Kenderian, MD, Naseema Gangat, MBBS, Ayalew Tefferi, MD, Roshini S Abraham, PhD, Phuong L. Nguyen, MD, Jennifer L Oliveira, MD, Rong He, MD, Dong Chen, MD PhD, David Viswanatha, MD, Vilmarie Rodriguez, MD, Shakila Khan, MD, Mrinal M Patnaik, MBBS

Blood (2016) 128 (22): 300.

https://doi.org/10.1182/blood.V128.22.300.300

Published: 2016

Journal Articles

A Human Bone Marrow Failure Syndrome Caused By a Homozygous Mutation in MYSM1

Ehsan Bahrami, Tomas Racek, PhD, Maximilian Witzel, MD, Jacek Puchalka, PhD, Naschla Greif-Kohistani, MD, Daniel Kotlarz, MD PhD, Michael Orth, PhD, Kirsten Lauber, PhD, Christoph Walz, MD, Waleed Al Herz, MD, Hans-Peter Horny, MD, Heinrich Schmidt, MD, Michael H. Albert, MD, Christoph Klein, MD PhD

Blood (2015) 126 (23): 1204.

https://doi.org/10.1182/blood.V126.23.1204.1204

Published: 2015

Journal Articles

A Double Strand Break during Telophase Is Repaired with Homologous Recombination Despite the Absence of an Available Sister Chromatid

Amit Patel, MBBS, PhD MRCP, MRCS, FRCPath, Luis Alcaide Aragon, PhD

Blood (2015) 126 (23): 2421.

https://doi.org/10.1182/blood.V126.23.2421.2421

Published: 2015

Journal Articles

Diagnosis of Fanconi Anemia By Chromosome Breakage Tests Using 3 Different Scoring Systems and Whole Genome Sequencing Among Patients with Aplastic Anemia in Korean

Si Nae Park, Nam Hee Kim, MD, Kyongok Im, B.S, Jee Soo Lee, MD, Sungbin Choi, Dong Soon Lee

Blood (2015) 126 (23): 4792.

https://doi.org/10.1182/blood.V126.23.4792.4792

Published: 2015

Journal Articles

Brca1 Deficiency Causes Bone Marrow Failure and Spontaneous Hematologic Malignancies in Mice

Aparna Vasanthakumar, BSc, MSc, PhD, Stephen Arnovitz, Rafael Marquez, Janet Lepore, George Rafidi, Elizabeth M. Davis, BS, Anase Asom, Madison Weatherly, Barbara Neistadt, Robert Duszynski, James W. Vardiman, MD, Michelle M. Le Beau, PhD, Lucy A. Godley, MD PhD, Jane E. Churpek, MD

Blood (2015) 126 (23): 295.

https://doi.org/10.1182/blood.V126.23.295.295

Published: 2015

Journal Articles

Clinical and Molecular Characterization of Fanconi Anemia: An Indian Perspective

Nancy Beryl Janet Arthur, M.Sc, Abhijeet P Ganapule, MD, Dhavapriya Palani, B.Sc, Auro Viswabandya, MD, Vikram Mathews, MD, Aby Abraham, MD, Vivi M Srivastava, MD, Alok Srivastava, MD, Biju George, MD, Shaji R Velayudhan, PhD

Blood (2014) 124 (21): 2938.

https://doi.org/10.1182/blood.V124.21.2938.2938

Published: 2014

Journal Articles

Metastatic Breast Cancer in a Patient with Fanconi Anemia

Jeffrey Graham, MD, Debjani Grenier, MD, Arjuna Ponnampalam, MD

Blood (2014) 124 (21): 5164.

https://doi.org/10.1182/blood.V124.21.5164.5164

Published: 2014

Journal Articles

Familial Myeloid Neoplasms: Clinical Spectrum and Associated Abnormalities

Samith T. Kochuparambil, MBBS, Amie E Jackson, MD, Naseema Gangat, MD, Mark R. Litzow, MD, Shakila Khan, MD, Vilmarie Rodriguez, MD, William J. Hogan, MD, David Dingli, M.D., Ph.D., Mrinal M Patnaik, MBBS

Blood (2013) 122 (21): 2794.

https://doi.org/10.1182/blood.V122.21.2794.2794

Published: 2013

Journal Articles

BCR/ABL Fusion Gene On Constitutional Der(14;22) Roberstsonian Translocation in a Case of Chronic Myeloid Leukemia with Masked Philadelphia Chromosome

Pablo Lopez, Daniela Infante, Isabel Moro, Victoria Elizondo, Gerardo Romanelli, Solange Simonet, M. Rosario Uriarte Escuder, PhD, Natacha Gardiol, Juan Zunino, Marina Lafage, Rossana Bonomi

Blood (2012) 120 (21): 4822.

https://doi.org/10.1182/blood.V120.21.4822.4822

Published: 2012

Journal Articles

Telomere Attrition and Chromosomal Instability During Long-Term Cultivation of Hematopoietic Stem Cells,

Kathrin Lange, Dipl. Biochem., Beate Kuhlmann, PhD, Andrea Schienke, Axel Schambach, MD PhD, Ute Modlich, DVM, PhD, Christopher Baum, MD, Brigitte Schlegelberger, M.D., Gudrun Göhring, MD

Blood (2011) 118 (21): 4001.

https://doi.org/10.1182/blood.V118.21.4001.4001

Published: 2011

NARROW

Fanconi Anemia: A Paradigm for Understanding DNA Repair During Replication.

Phase II Study of Eltrombopag in Subjects with Fanconi Anemia

Characterization of Pathogenic Variants and Clinical Phenotypes in 117 Japanese Fanconi Anemia Patients

A Clinical, Genomic and Proteomic Approach for the Characterization of Fanconi Anemia in Adolescent and Young Adult (AYA) Patients : A Single Center Study of 55 Patients from a National Bone Marrow Failure Referral Center

Excellent Outcome of Alternative Donor HSCT in Fanconi Anemia Using Chemotherapy Only Regimen: Single Korean Institution Experience

Clonal Cytogenetic Abnormalities in Myeloid Neoplasms Arising from Fanconi Anemia — a Single Center Study from India

Hyperactive Non-Canonical TGF-β Pathway Signaling in Fanconi Anemia Bone Marrow Stromal Cells Contributes to Growth Suppression

Telomere Shortening, TP53 Mutations and Deletions in Chronic Lymphocytic Leukemia Result in Increased Chromosomal Instability and Breakpoint Clustering in Heterochromatic Regions

The Significance of the Next Generation Targeted Sequencing in the Precise Diagnosis of Pediatric Acquire Aplastic Anemia and Inherited Bone Marrow Failure Syndromes

A Homozygous Germ Line Nonsense Mutation in BRCA1 Leading Fanconi Anemia and Neuroblastoma

Clinical Spectrum of Germline Mutations with Predisposition to Myeloid Neoplasms- 2016 World Health Organization Classification Update

A Human Bone Marrow Failure Syndrome Caused By a Homozygous Mutation in MYSM1

A Double Strand Break during Telophase Is Repaired with Homologous Recombination Despite the Absence of an Available Sister Chromatid

Diagnosis of Fanconi Anemia By Chromosome Breakage Tests Using 3 Different Scoring Systems and Whole Genome Sequencing Among Patients with Aplastic Anemia in Korean

Brca1 Deficiency Causes Bone Marrow Failure and Spontaneous Hematologic Malignancies in Mice

Clinical and Molecular Characterization of Fanconi Anemia: An Indian Perspective

Metastatic Breast Cancer in a Patient with Fanconi Anemia

Familial Myeloid Neoplasms: Clinical Spectrum and Associated Abnormalities

BCR/ABL Fusion Gene On Constitutional Der(14;22) Roberstsonian Translocation in a Case of Chronic Myeloid Leukemia with Masked Philadelphia Chromosome

Telomere Attrition and Chromosomal Instability During Long-Term Cultivation of Hematopoietic Stem Cells,

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American Society of Hematology

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ASH Publications

American Society of Hematology

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