Blanche P Alter

Blanche P Alter

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Blanche P Alter

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Genotype-phenotype associations in Fanconi anemia: A literature review.

Blood Rev 2019 09 16;37:100589. Epub 2019 Jul 16.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 9609 Medical Center Drive, Rockville, MD 20850, USA. Electronic address:

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http://dx.doi.org/10.1016/j.blre.2019.100589DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6730648PMC
September 2019

Serum alpha fetoprotein levels in Fanconi anaemia.

Br J Haematol 2019 Mar 20;184(6):1074-1076. Epub 2018 Aug 20.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.

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http://dx.doi.org/10.1111/bjh.15517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383512PMC
March 2019

Increased risk of colon cancer and osteogenic sarcoma in Diamond-Blackfan anemia.

Blood 2018 11 28;132(20):2205-2208. Epub 2018 Sep 28.

Division of Hematology/Oncology and Stem Cell Transplantation, Cohen Children's Medical Center, Northwell Health, New Hyde Park, NY.

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http://www.bloodjournal.org/lookup/doi/10.1182/blood-2018-05
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http://dx.doi.org/10.1182/blood-2018-05-848937DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238192PMC
November 2018

Chromosomal Aberrations and Survival after Unrelated Donor Hematopoietic Stem Cell Transplant in Patients with Fanconi Anemia.

Biol Blood Marrow Transplant 2018 10 4;24(10):2003-2008. Epub 2018 Jun 4.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland. Electronic address:

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http://dx.doi.org/10.1016/j.bbmt.2018.05.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6239962PMC
October 2018

Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants.

Am J Med Genet A 2018 06 25;176(6):1432-1437. Epub 2018 Apr 25.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, Rockville, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38706DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992073PMC
June 2018

Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita.

Blood Adv 2018 06;2(11):1243-1249

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD; and.

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http://dx.doi.org/10.1182/bloodadvances.2018016964DOI Listing
June 2018

Beyond the triad: Inheritance, mucocutaneous phenotype, and mortality in a cohort of patients with dyskeratosis congenita.

J Am Acad Dermatol 2018 04 16;78(4):804-806. Epub 2017 Oct 16.

Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01909622173254
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http://dx.doi.org/10.1016/j.jaad.2017.10.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857208PMC
April 2018

Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes.

Pediatr Blood Cancer 2018 Jan 12;65(1). Epub 2017 Aug 12.

Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Rockville, Maryland.

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http://dx.doi.org/10.1002/pbc.26757DOI Listing
January 2018

Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up.

Haematologica 2018 01 19;103(1):30-39. Epub 2017 Oct 19.

Biostatistics Branches, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.

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http://dx.doi.org/10.3324/haematol.2017.178111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777188PMC
January 2018

Progressive reticulate skin pigmentation and anonychia in a patient with bone marrow failure.

J Am Acad Dermatol 2017 Dec 21;77(6):1194-1198. Epub 2017 Oct 21.

Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2017.07.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685909PMC
December 2017

Inherited bone marrow failure syndromes: considerations pre- and posttransplant.

Authors:
Blanche P Alter

Hematology Am Soc Hematol Educ Program 2017 12;2017(1):88-95

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD.

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http://dx.doi.org/10.1182/asheducation-2017.1.88DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142586PMC
December 2017

Inherited bone marrow failure syndromes: considerations pre- and posttransplant.

Authors:
Blanche P Alter

Blood 2017 11;130(21):2257-2264

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD.

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http://dx.doi.org/10.1182/blood-2017-05-781799DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5714231PMC
November 2017

Pregnancies in patients with inherited bone marrow failure syndromes in the NCI cohort.

Blood 2017 10 24;130(14):1674-1676. Epub 2017 Aug 24.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, and.

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http://dx.doi.org/10.1182/blood-2017-08-802991DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630015PMC
October 2017

Bone mineral density in patients with inherited bone marrow failure syndromes.

Pediatr Res 2017 Sep 31;82(3):458-464. Epub 2017 May 31.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, USA.

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http://dx.doi.org/10.1038/pr.2017.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570650PMC
September 2017

Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives.

Int J Mol Sci 2017 Aug 13;18(8). Epub 2017 Aug 13.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.3390/ijms18081765DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578154PMC
August 2017

Heritable cancer: Rounding up the not so usual suspects.

Pediatr Blood Cancer 2017 02 8;64(2):219-220. Epub 2016 Oct 8.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, Maryland.

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http://dx.doi.org/10.1002/pbc.26190DOI Listing
February 2017

Research participant interest in primary, secondary, and incidental genomic findings.

Genet Med 2016 12 21;18(12):1218-1225. Epub 2016 Apr 21.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5074919PMC
http://dx.doi.org/10.1038/gim.2016.36DOI Listing
December 2016

Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes.

Pediatr Blood Cancer 2016 12 18;63(12):2139-2145. Epub 2016 Jul 18.

National Cancer Institute, National Institutes of Health, Rockville, Maryland.

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http://dx.doi.org/10.1002/pbc.26155DOI Listing
December 2016

Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations.

Am J Hematol 2016 12 4;91(12):1215-1220. Epub 2016 Nov 4.

Molecular and Cellular Pharmacology Group, Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1002/ajh.24545DOI Listing
December 2016

Preemptive Bone Marrow Transplantation and Event-Free Survival in Fanconi Anemia.

Biol Blood Marrow Transplant 2016 10 21;22(10):1888-1892. Epub 2016 Jun 21.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5066303PMC
http://dx.doi.org/10.1016/j.bbmt.2016.06.018DOI Listing
October 2016

The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita.

Mol Genet Genomic Med 2016 Jul 20;4(4):475-9. Epub 2016 Mar 20.

Clinical Genetics Branch Division of Cancer Epidemiology and Genetics National Cancer Institute, National Institutes of Health 9609 Medical Center Drive Rockville Maryland 20850.

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http://dx.doi.org/10.1002/mgg3.220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947866PMC
July 2016

In reference to Natural history and management of fanconi anemia patients with head and neck cancer: A 10-year follow-up.

Laryngoscope 2016 06 23;126(6):E229. Epub 2016 Jan 23.

Biostatistics Branch Division of Cancer Epidemiology and Genetics National Cancer Institute, Bethesda, Maryland.

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http://dx.doi.org/10.1002/lary.25874DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4873409PMC
June 2016

Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS.

Am J Med Genet A 2016 06 30;170(6):1520-4. Epub 2016 Mar 30.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.37637DOI Listing
June 2016

Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.

Pediatr Neurol 2016 Mar 19;56:62-68.e1. Epub 2015 Dec 19.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789174PMC
March 2016

Pituitary abnormalities in patients with Fanconi anaemia.

Clin Endocrinol (Oxf) 2016 Feb 22;84(2):307-309. Epub 2015 Sep 22.

Program on Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA.

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http://dx.doi.org/10.1111/cen.12883DOI Listing
February 2016

Novel FANCI mutations in Fanconi anemia with VACTERL association.

Am J Med Genet A 2016 Feb 21;170A(2):386-391. Epub 2015 Nov 21.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.37461DOI Listing
February 2016

The use of haematopoietic stem cell transplantation in Fanconi anaemia patients: a survey of decision making among families in the US and Canada.

Health Expect 2015 Oct 29;18(5):929-41. Epub 2013 Apr 29.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, Department of Health and Human Services (DHHS), National Cancer Institute (NCI), National Institutes of Health (NIH), Rockville, MD, USA.

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http://dx.doi.org/10.1111/hex.12066DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3766454PMC
October 2015

Genetic Information-Seeking Behaviors and Knowledge among Family Members and Patients with Inherited Bone Marrow Failure Syndromes.

J Genet Couns 2015 Oct 27;24(5):760-70. Epub 2014 Dec 27.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.

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http://dx.doi.org/10.1007/s10897-014-9807-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4485598PMC
October 2015

Preemptive Bone Marrow Transplantation for FANCD1/BRCA2.

Biol Blood Marrow Transplant 2015 Oct 14;21(10):1796-801. Epub 2015 Jul 14.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland. Electronic address:

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http://dx.doi.org/10.1016/j.bbmt.2015.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4568159PMC
October 2015

Immune status of patients with inherited bone marrow failure syndromes.

Am J Hematol 2015 Aug 28;90(8):702-8. Epub 2015 May 28.

Division of Infectious Diseases, Department of Medicine, Human Papillomavirus Immunology Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland.

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http://dx.doi.org/10.1002/ajh.24046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4509864PMC
August 2015

Fanconi anemia and the development of leukemia.

Authors:
Blanche P Alter

Best Pract Res Clin Haematol 2014 Sep-Dec;27(3-4):214-21. Epub 2014 Oct 15.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.beha.2014.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4254647PMC
July 2015

Endocrine disorders in Fanconi anemia: recommendations for screening and treatment.

J Clin Endocrinol Metab 2015 Mar 9;100(3):803-11. Epub 2015 Jan 9.

Division of Pediatric Endocrinology (A.P., B.N.), University of Minnesota Masonic Children's Hospital, Minneapolis, Minnesota 55454; Department of Pediatrics (R.K.S.), Children's Hospital of Richmond at Virginia Commonwealth University, Richmond, Virginia 23229; Clinical Genetics Branch (N.G., B.P.A.), Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland 20850; Division of Endocrinology, Diabetes and Metabolism (A.N.H.), Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts 02215; Division of Endocrinology (M.M.R., S.R.R.), Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229; Pediatric Endocrinology Inter-Institute Training Program (M.L.), National Institutes of Health, Bethesda, Maryland 20892; and Section on Endocrinology and Genetics (M.L., C.A.S.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland 20892.

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http://dx.doi.org/10.1210/jc.2014-4357DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4333044PMC
March 2015

Comparison of chromosome breakage in non-mosaic and mosaic patients with Fanconi anemia, relatives, and patients with other inherited bone marrow failure syndromes.

Cytogenet Genome Res 2014 11;144(1):15-27. Epub 2014 Sep 11.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Md., USA.

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http://dx.doi.org/10.1159/000366251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225000PMC
February 2015

Reduced serum levels of anti-Müllerian hormone in females with inherited bone marrow failure syndromes.

J Clin Endocrinol Metab 2015 Feb 18;100(2):E197-203. Epub 2014 Nov 18.

Human Papillomavirus Immunology Laboratory (M.M.S., L.A.P.), Leidos Biomedical Research, Incorporated, Frederick National Laboratory for Cancer Research, Frederick, Maryland 21702; Program in Reproductive and Adult Endocrinology (P.S.), Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892; and Clinical Genetics Branch (N.G., B.P.A., S.A.S.), Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland 20852.

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http://dx.doi.org/10.1210/jc.2014-2838DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4318906PMC
February 2015

Genetic analysis and clinical picture of severe congenital neutropenia in Israel.

Pediatr Blood Cancer 2015 Jan 4;62(1):103-8. Epub 2014 Oct 4.

Department of Pediatrics B, Schneider Children's Medical Center of Israel, Petach Tikva, Israel and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1002/pbc.25251DOI Listing
January 2015

Telomere length in inherited bone marrow failure syndromes.

Haematologica 2015 Jan 10;100(1):49-54. Epub 2014 Oct 10.

Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, MD, USA.

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http://dx.doi.org/10.3324/haematol.2014.114389DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281312PMC
January 2015

Proliferative retinopathy as a complication of dyskeratosis congenita.

Retin Cases Brief Rep 2009 ;3(3):259-62

From the *Department of Ophthalmology, University of Alabama at Birmingham, Birmingham, Alabama; †Retina Consultants of Alabama, Birmingham, Alabama; the ‡Austin Retina Associates, Austin, Texas; the §Intramural Research Program of the National Eye Institute, Bethesda, Maryland; the ∥National Eye Institute, Health, Department of Health and Human Services, Bethesda, Maryland; and the ¶Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.

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http://dx.doi.org/10.1097/01.ICB.0000315662.87050.bfDOI Listing
November 2014

Pearson syndrome in a Diamond-Blackfan anemia cohort.

Authors:
Blanche P Alter

Blood 2014 Jul;124(3):312-3

NATIONAL CANCER INSTITUTE.

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http://dx.doi.org/10.1182/blood-2014-04-571687DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4102705PMC
July 2014

Anti-Müllerian hormone deficiency in females with Fanconi anemia.

J Clin Endocrinol Metab 2014 May 17;99(5):1608-14. Epub 2014 Jan 17.

Human Papillomavirus Immunology Laboratory (M.M.S., L.A.P.), Leidos Biomedical Research, Inc, Frederick National Laboratory for Cancer Research, Frederick, Maryland 21702; Clinical Genetics Branch (N.G., B.P.A.), Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20892; and Program in Reproductive and Adult Endocrinology (P.S.), Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland 20814.

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http://dx.doi.org/10.1210/jc.2013-3559DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4010699PMC
May 2014

Response to androgen therapy in patients with dyskeratosis congenita.

Br J Haematol 2014 May 12;165(3):349-57. Epub 2014 Feb 12.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD, USA; Children's National Medical Center, Washington, DC, USA.

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http://doi.wiley.com/10.1111/bjh.12748
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http://dx.doi.org/10.1111/bjh.12748DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3984599PMC
May 2014

Antibody response to human papillomavirus vaccine in subjects with inherited bone marrow failure syndromes.

Vaccine 2014 Feb 2;32(10):1169-73. Epub 2013 Dec 2.

HPV Immunology Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA.

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http://dx.doi.org/10.1016/j.vaccine.2013.11.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3944909PMC
February 2014

Sources of uncertainty and their association with medical decision making: exploring mechanisms in Fanconi anemia.

Ann Behav Med 2013 Oct;46(2):204-16

Cancer Prevention Fellowship Program, Division of Cancer Prevention, National Cancer Institute (NCI), National Institutes of Health (NIH), 9609 Medical Center Drive, Room 3E632, Rockville, MD, 20850, USA,

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http://dx.doi.org/10.1007/s12160-013-9507-5DOI Listing
October 2013

Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromes.

Br J Haematol 2013 Oct 25;163(1):81-92. Epub 2013 Jul 25.

Human Papillomavirus Immunology Laboratory, Science Applications International Corporation (SAIC)-Frederick, Incorporated, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.

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http://dx.doi.org/10.1111/bjh.12475DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3930339PMC
October 2013

Squamous cell carcinomas in patients with Fanconi anemia and dyskeratosis congenita: a search for human papillomavirus.

Int J Cancer 2013 Sep 5;133(6):1513-5. Epub 2013 Apr 5.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20852, USA.

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http://dx.doi.org/10.1002/ijc.28157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3707947PMC
September 2013

Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes.

Br J Haematol 2013 Aug 29;162(4):542-6. Epub 2013 May 29.

Clinical Genetics Branch, Division of Clinical Epidemiology and Genetics, National Cancer Institute, National Institutes of Health/DCEG/CGB Branch, 9609 Medical Center Dr, Rm 6E452, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1111/bjh.12399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3720816PMC
August 2013

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.

Hum Genet 2013 Apr 18;132(4):473-80. Epub 2013 Jan 18.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd. EPS 7018, Rockville, MD 20892, USA.

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http://dx.doi.org/10.1007/s00439-013-1265-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3600110PMC
April 2013

Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.

Br J Haematol 2013 Feb 17;160(4):547-54. Epub 2012 Dec 17.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.

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http://dx.doi.org/10.1111/bjh.12167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3609920PMC
February 2013

Patients with Fanconi anemia and AML have different cytogenetic clones than de novo cases of AML.

Pediatr Blood Cancer 2012 Nov 19;59(5):922-4. Epub 2012 Apr 19.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20852-7231, USA.

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http://dx.doi.org/10.1002/pbc.24168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3407278PMC
November 2012

A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites.

Anemia 2012 4;2012:865170. Epub 2012 Jun 4.

Department of Clinical Genetics, VU University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The Netherlands.

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http://dx.doi.org/10.1155/2012/865170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3372307PMC
August 2012

Neuropsychiatric conditions among patients with dyskeratosis congenita: a link with telomere biology?

Psychosomatics 2012 May-Jun;53(3):230-5. Epub 2012 Mar 27.

Department of Psychiatry and Behavioral Sciences, Children's National Medical Center, Washington, DC, USA.

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http://dx.doi.org/10.1016/j.psym.2011.09.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3348420PMC
July 2012

Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry.

Blood 2012 Apr 23;119(16):3815-9. Epub 2012 Feb 23.

Steven and Alexandra Cohen Children's Medical Center of New York, Hematology/Oncology and Stem Cell Transplantation, New Hyde Park, 11040, USA.

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http://dx.doi.org/10.1182/blood-2011-08-375972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335385PMC
April 2012

Telomere length is associated with disease severity and declines with age in dyskeratosis congenita.

Haematologica 2012 Mar 4;97(3):353-9. Epub 2011 Nov 4.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, MD 20852-7231, USA.

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http://dx.doi.org/10.3324/haematol.2011.055269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3291588PMC
March 2012

The relationship between DNA methylation and telomere length in dyskeratosis congenita.

Aging Cell 2012 Feb 15;11(1):24-8. Epub 2011 Nov 15.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20852, USA.

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http://dx.doi.org/10.1111/j.1474-9726.2011.00755.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3257380PMC
February 2012

Neutrophil functions in patients with inherited bone marrow failure syndromes.

Pediatr Blood Cancer 2011 Aug 5;57(2):306-9. Epub 2010 Nov 5.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20852-7231, USA.

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http://dx.doi.org/10.1002/pbc.22885DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3116953PMC
August 2011

How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and Israel.

Am J Med Genet A 2011 Aug 7;155A(8):1877-83. Epub 2011 Jul 7.

Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.a.34087DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3140593PMC
August 2011

Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review.

BMC Blood Disord 2011 Jun 15;11. Epub 2011 Jun 15.

Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Rockville 20852, MD, USA.

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http://dx.doi.org/10.1186/1471-2326-11-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3141321PMC
June 2011

Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita.

J Med Genet 2011 Apr 5;48(4):285-8. Epub 2011 Jan 5.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Department of Health and Human Services, Bethesda, MD, USA.

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http://dx.doi.org/10.1136/jmg.2010.082727DOI Listing
April 2011

Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.

Genes Dev 2011 Jan;25(1):11-6

Department of Medicine, Stanford University School of Medicine, Stanford, California 94305, USA.

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http://dx.doi.org/10.1101/gad.2006411DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3012932PMC
January 2011

Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes.

Aging (Albany NY) 2010 Nov;2(11):867-74

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20852, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3006028PMC
http://dx.doi.org/10.18632/aging.100235DOI Listing
November 2010

Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study.

Br J Haematol 2010 Jul 30;150(2):179-88. Epub 2010 Apr 30.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20852-7231, USA.

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http://doi.wiley.com/10.1111/j.1365-2141.2010.08212.x
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http://dx.doi.org/10.1111/j.1365-2141.2010.08212.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3125983PMC
July 2010

Pathophysiology and management of inherited bone marrow failure syndromes.

Blood Rev 2010 May 24;24(3):101-22. Epub 2010 Apr 24.

Pediatric Hematology/Oncology, Fred Hutchinson Cancer Research Center and Seattle Children's Hospital, Seattle, WA, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S0268960X100001
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http://dx.doi.org/10.1016/j.blre.2010.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3733544PMC
May 2010

Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita.

Ophthalmology 2010 Mar 22;117(3):615-22. Epub 2009 Dec 22.

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S016164200900910
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http://dx.doi.org/10.1016/j.ophtha.2009.08.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2830377PMC
March 2010

Dyskeratosis congenita: the first NIH clinical research workshop.

Pediatr Blood Cancer 2009 Sep;53(3):520-3

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland 20892, USA.

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http://dx.doi.org/10.1002/pbc.22061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2739803PMC
September 2009

Diagnosis, genetics, and management of inherited bone marrow failure syndromes.

Authors:
Blanche P Alter

Hematology Am Soc Hematol Educ Program 2007 :29-39

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd, Executive Plaza South, Room 7020, Rockville, MD 20852-7231, USA.

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http://dx.doi.org/10.1182/asheducation-2007.1.29DOI Listing
July 2009

Cancer in dyskeratosis congenita.

Blood 2009 Jun 12;113(26):6549-57. Epub 2009 Mar 12.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health/DHHS, 6120 Executive Blvd, Executive Plaza South, Rockville, MD 20852-7231, USA.

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http://dx.doi.org/10.1182/blood-2008-12-192880DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2710915PMC
June 2009

Dyskeratosis congenita.

Hematol Oncol Clin North Am 2009 Apr;23(2):215-31

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 6120 Executive Boulevard, Rockville, MD 20852, USA.

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http://dx.doi.org/10.1016/j.hoc.2009.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2702847PMC
April 2009

Bone marrow cell cycle markers in inherited bone marrow failure syndromes.

Leuk Res 2008 Dec 7;32(12):1793-9. Epub 2008 Jul 7.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.

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http://dx.doi.org/10.1016/j.leukres.2008.05.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2716700PMC
December 2008

All in the family: disclosure of "unwanted" information to an adolescent to benefit a relative.

Am J Med Genet A 2008 Nov;146A(21):2719-24

Department of Bioethics, National Institutes of Health Clinical Center, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.a.32362DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3143002PMC
November 2008

The role of telomere biology in bone marrow failure and other disorders.

Mech Ageing Dev 2008 Jan-Feb;129(1-2):35-47. Epub 2007 Nov 19.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20892, United States.

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http://dx.doi.org/10.1016/j.mad.2007.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2278290PMC
April 2008

Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry.

Haematologica 2008 Apr 5;93(4):511-7. Epub 2008 Mar 5.

Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd, Executive Plaza South, Room 8022, Rockville 20852-7244 USA.

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http://dx.doi.org/10.3324/haematol.12234DOI Listing
April 2008

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.

Am J Hum Genet 2008 Feb 31;82(2):501-9. Epub 2008 Jan 31.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ajhg.2007.10.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427222PMC
February 2008

Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia.

Br J Haematol 2008 Jan 20;140(2):210-3. Epub 2007 Nov 20.

Biostatistics Branch, Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Rockville, MD, USA.

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http://dx.doi.org/10.1111/j.1365-2141.2007.06897.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3143022PMC
January 2008