PMC Links for Books (Select 1471774) - PMC

Luisa Strocchio, Daria Pagliara, Mattia Algeri, Giuseppina Li Pira, Francesca Rossi, Valentina Bertaina, Giovanna Leone, Rita Maria Pinto, Marco Andreani, Emanuele Agolini, Katia Girardi, Stefania Gaspari, Lavinia Grapulin, Francesca del Bufalo, Antonio Novelli, Pietro Merli, Franco Locatelli

Blood Adv. 2021 Mar 9; 5(5): 1333–1339. Published online 2021 Mar 3. doi: 10.1182/bloodadvances.2020003707

PMCID:: PMC7948273

Abstract Article PDF–761K

Select item 74972894.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 72261255.

Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients

Jesús del Valle, Paula Rofes, José Marcos Moreno-Cabrera, Adriana López-Dóriga, Sami Belhadj, Gardenia Vargas-Parra, Àlex Teulé, Raquel Cuesta, Xavier Muñoz, Olga Campos, Mónica Salinas, Rafael de Cid, Joan Brunet, Sara González, Gabriel Capellá, Marta Pineda, Lídia Feliubadaló, Conxi Lázaro

Cancers (Basel) 2020 Apr; 12(4): 829. Published online 2020 Mar 30. doi: 10.3390/cancers12040829

PMCID:: PMC7226125

Abstract Article PDF–748K

Select item 71931836.

Association of clinical severity with FANCB variant type in Fanconi anemia

Moonjung Jung, Ramanagouda Ramanagoudr-Bhojappa, Sylvie van Twest, Rasim Ozgur Rosti, Vincent Murphy, Winnie Tan, Frank X. Donovan, Francis P. Lach, Danielle C. Kimble, Caroline S. Jiang, Roger Vaughan, Parinda A. Mehta, Filomena Pierri, Carlo Dufour, Arleen D. Auerbach, Andrew J. Deans, Agata Smogorzewska, Settara C. Chandrasekharappa

Blood. 2020 Apr 30; 135(18): 1588–1602. Prepublished online 2020 Feb 27. doi: 10.1182/blood.2019003249

PMCID:: PMC7193183

Abstract Article

Select item 69159687.

Comparable Outcomes after HLA-Matched Sibling and Alternative Donor Hematopoietic Cell Transplantation for Children with Fanconi Anemia and Severe Aplastic Anemia

Christen L. Ebens, Todd E. DeFor, Rebecca Tryon, John E. Wagner, Margaret L. MacMillan

Biol Blood Marrow Transplant. Author manuscript; available in PMC 2019 Dec 17.

Published in final edited form as: Biol Blood Marrow Transplant. 2018 Apr; 24(4): 765–771. Published online 2017 Dec 2. doi: 10.1016/j.bbmt.2017.11.031

PMCID:: PMC6915968

Abstract Article PDF–885K

Select item 67306488.

Genotype-Phenotype Associations in Fanconi Anemia: A Literature Review

Moisés O. Fiesco-Roa, Neelam Giri, Lisa J. McReynolds, Ana F. Best, Blanche P. Alter

Blood Rev. Author manuscript; available in PMC 2020 Sep 1.

Published in final edited form as: Blood Rev. 2019 Sep; 37: 100589. Published online 2019 Jul 16. doi: 10.1016/j.blre.2019.100589

PMCID:: PMC6730648

Abstract Article PDF–1005K

Select item 64178359.

The Fanconi Anemia Pathway in Cancer

Joshi Niraj, Anniina Färkkilä, Alan D. D’Andrea

Annu Rev Cancer Biol. Author manuscript; available in PMC 2019 Mar 14.

Published in final edited form as: Annu Rev Cancer Biol. 2019 Mar; 3: 457–478. Published online 2018 Dec 3. doi: 10.1146/annurev-cancerbio-030617-050422

PMCID:: PMC6417835

Abstract Article PDF–1.4M

Select item 608951010.

HEMATOPOIETIC CELL TRANSPLANTATION IN FANCONI ANEMIA: CURRENT EVIDENCE, CHALLENGES AND RECOMMENDATIONS

Christen L. Ebens, Margaret L. MacMillan, John E. Wagner

Expert Rev Hematol. Author manuscript; available in PMC 2018 Aug 13.

Published in final edited form as: Expert Rev Hematol. 2017 Jan; 10(1): 81–97. Published online 2016 Dec 21. doi: 10.1080/17474086.2016.1268048

PMCID:: PMC6089510

Article PDF–640K

Select item 591267511.

Fanconi Anemia Complementation Group FA-D2 Protein (FANCD2) Serine 331 Phosphorylation Is Important for Fanconi Anemia (FA) Pathway Function and BRCA2 Interaction

Gang Zhi, James B. Wilson, Xiaoyong Chen, Diane S. Krause, Yuxuan Xiao, Nigel J. Jones, Gary M. Kupfer

Cancer Res. Author manuscript; available in PMC 2018 Apr 23.

Published in final edited form as: Cancer Res. 2009 Nov 15; 69(22): 8775–8783. Published online 2009 Oct 27. doi: 10.1158/0008-5472.CAN-09-2312

PMCID:: PMC5912675

Abstract Article PDF–2.6M

Select item 583039712.

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

Roberta Bottega, Elena Nicchia, Enrico Cappelli, Silvia Ravera, Daniela De Rocco, Michela Faleschini, Fabio Corsolini, Filomena Pierri, Michaela Calvillo, Giovanna Russo, Gabriella Casazza, Ugo Ramenghi, Piero Farruggia, Carlo Dufour, Anna Savoia

Haematologica. 2018 Mar; 103(3): 417–426. Prepublished online 2017 Dec 21. doi: 10.3324/haematol.2017.176131

PMCID:: PMC5830397

Abstract Article PDF–1.1M

Select item 576683813.

Radiation-free, alternative-donor HCT for Fanconi anemia patients: results from a prospective multi-institutional study

Parinda A. Mehta, Stella M. Davies, Thomas Leemhuis, Kasiani Myers, Nancy A. Kernan, Susan E. Prockop, Andromachi Scaradavou, Richard J. O’Reilly, David A. Williams, Leslie Lehmann, Eva Guinan, David Margolis, K. Scott Baker, Adam Lane, Farid Boulad

Blood. 2017 Apr 20; 129(16): 2308–2315. Prepublished online 2017 Feb 8. doi: 10.1182/blood-2016-09-743112

PMCID:: PMC5766838

Abstract Article

Select item 492858614.

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

Fan Zhang, Qiang Fan, Keqin Ren, Arleen D. Auerbach, Paul R. Andreassen

Chromosoma. Author manuscript; available in PMC 2016 Jun 30.

Published in final edited form as: Chromosoma. 2010 Dec; 119(6): 637–649. Published online 2010 Jul 31. doi: 10.1007/s00412-010-0285-6

PMCID:: PMC4928586

Abstract Article PDF–972K

Select item 480362715.

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

David I. Kutler, Krupa R. Patel, Arleen D. Auerbach, Jennifer Kennedy, Francis P. Lach, Erica Sanborn, Marc A. Cohen, William I. Kuhel, Agata Smogorzewska

Laryngoscope. Author manuscript; available in PMC 2017 Apr 1.

Published in final edited form as: Laryngoscope. 2016 Apr; 126(4): 870–879. Published online 2015 Oct 20. doi: 10.1002/lary.25726

PMCID:: PMC4803627

Abstract Article PDF–1.0M

Select item 473192516.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 455081917.

FANCB is essential in the male germline and regulates H3K9 methylation on the sex chromosomes during meiosis

Yasuko Kato, Kris G. Alavattam, Ho-Su Sin, Amom Ruhikanta Meetei, Qishen Pang, Paul R. Andreassen, Satoshi H. Namekawa

Hum Mol Genet. 2015 Sep 15; 24(18): 5234–5249. Published online 2015 Jun 29. doi: 10.1093/hmg/ddv244

PMCID:: PMC4550819

Abstract Article PDF–1.8M

Select item 454475318.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 446374019.

Alternative donor hematopoietic cell transplantation for Fanconi anemia

Margaret L. MacMillan, Todd E. DeFor, Jo-Anne H. Young, Kathryn E. Dusenbery, Bruce R. Blazar, Arne Slungaard, Heather Zierhut, Daniel J. Weisdorf, John E. Wagner

Blood. 2015 Jun 11; 125(24): 3798–3804. Prepublished online 2015 Mar 30. doi: 10.1182/blood-2015-02-626002

PMCID:: PMC4463740

Abstract Article

Select item 433304420.

Endocrine Disorders in Fanconi Anemia: Recommendations for Screening and Treatment

Anna Petryk, Roopa Kanakatti Shankar, Neelam Giri, Anthony N. Hollenberg, Meilan M. Rutter, Brandon Nathan, Maya Lodish, Blanche P. Alter, Constantine A. Stratakis, Susan R. Rose

J Clin Endocrinol Metab. 2015 Mar; 100(3): 803–811. Published online 2015 Jan 9. doi: 10.1210/jc.2014-4357

PMCID:: PMC4333044

Abstract Article

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Books

Items: 1 to 20 of 47

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity