Blanche P Alter

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Antibody response to human papillomavirus vaccine in subjects with inherited bone marrow failure syndromes
    Blanche P Alter
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20852, USA Electronic address
    Vaccine 32:1169-73. 2014
  2. pmc Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes
    Blanche P Alter
    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
    Br J Haematol 162:542-6. 2013
  3. pmc Squamous cell carcinomas in patients with Fanconi anemia and dyskeratosis congenita: a search for human papillomavirus
    Blanche P Alter
    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
    Int J Cancer 133:1513-5. 2013
  4. pmc Telomere length is associated with disease severity and declines with age in dyskeratosis congenita
    Blanche P Alter
    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
    Haematologica 97:353-9. 2012
  5. pmc Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2
    Blanche P Alter
    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
    J Med Genet 44:1-9. 2007
  6. pmc Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita
    Blanche P Alter
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20852 7231, USA
    Blood 110:1439-47. 2007
  7. ncbi request reprint Fanconi's anemia, transplantation, and cancer
    Blanche P Alter
    Department of Health and Human Services, Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA
    Pediatr Transplant 9:81-6. 2005
  8. ncbi request reprint Growth hormone and the risk of malignancy
    Blanche P Alter
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Department of Health and Human Services, Rockville, Maryland, USA
    Pediatr Blood Cancer 43:534-5. 2004
  9. ncbi request reprint Fanconi anemia: adult head and neck cancer and hematopoietic mosaicism
    Blanche P Alter
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Department of Health and Human Services, Bethesda, MD, USA
    Arch Otolaryngol Head Neck Surg 131:635-9. 2005
  10. pmc Cancer in dyskeratosis congenita
    Blanche P Alter
    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
    Blood 113:6549-57. 2009

Detail Information

Publications69

  1. pmc Antibody response to human papillomavirus vaccine in subjects with inherited bone marrow failure syndromes
    Blanche P Alter
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20852, USA Electronic address
    Vaccine 32:1169-73. 2014
    ....
  2. pmc Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes
    Blanche P Alter
    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
    Br J Haematol 162:542-6. 2013
    ..Thus Hb F is regulated in IBMFS by Xmn1-HBG2, as it is in the haemoglobinopathies. ..
  3. pmc Squamous cell carcinomas in patients with Fanconi anemia and dyskeratosis congenita: a search for human papillomavirus
    Blanche P Alter
    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
    Int J Cancer 133:1513-5. 2013
    ..These results suggest that HPV may not be the cause of SCC in patients with FA or DC, and that vaccination may not reduce the incidence of HNSCC in these patients. ..
  4. pmc Telomere length is associated with disease severity and declines with age in dyskeratosis congenita
    Blanche P Alter
    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
    Haematologica 97:353-9. 2012
    ..Dyskeratosis congenita is a cancer-prone bone marrow failure syndrome caused by aberrations in telomere biology...
  5. pmc Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2
    Blanche P Alter
    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
    J Med Genet 44:1-9. 2007
    ..Several of the alleles were not associated with cancer in presumed carriers, and thus counselling presents more uncertainties than usual...
  6. pmc Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita
    Blanche P Alter
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20852 7231, USA
    Blood 110:1439-47. 2007
    ....
  7. ncbi request reprint Fanconi's anemia, transplantation, and cancer
    Blanche P Alter
    Department of Health and Human Services, Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA
    Pediatr Transplant 9:81-6. 2005
    ..In this group, the major types of cancer are head and neck squamous cell carcinomas, and gynecologic malignancies. Rapid evaluation of new SCT preparative regimens would be useful in improving both short-term and long-term results...
  8. ncbi request reprint Growth hormone and the risk of malignancy
    Blanche P Alter
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Department of Health and Human Services, Rockville, Maryland, USA
    Pediatr Blood Cancer 43:534-5. 2004
  9. ncbi request reprint Fanconi anemia: adult head and neck cancer and hematopoietic mosaicism
    Blanche P Alter
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Department of Health and Human Services, Bethesda, MD, USA
    Arch Otolaryngol Head Neck Surg 131:635-9. 2005
  10. pmc Cancer in dyskeratosis congenita
    Blanche P Alter
    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
    Blood 113:6549-57. 2009
    ....
  11. ncbi request reprint Cancer in Fanconi anemia, 1927-2001
    Blanche P Alter
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland 20892 7231, USA
    Cancer 97:425-40. 2003
    ..A review of all reported cases is informative with regard to the specific types of cancer, the ages at which they occur, and the cumulative probability of their development...
  12. pmc Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study
    Blanche P Alter
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20852 7231, USA
    Br J Haematol 150:179-88. 2010
    ..The findings demonstrate that both FA and DC are major cancer susceptibility syndromes. The IBMFS, historically considered paediatric disorders, have important management implications for physicians treating adult patients...
  13. ncbi request reprint Bone marrow failure syndromes in children
    Blanche P Alter
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20854 7231, USA
    Pediatr Clin North Am 49:973-88. 2002
    ..Thus, the disorders included under the rubric "inherited bone marrow failure syndromes" have clinical. hematologic, oncologic, and genetic diversity...
  14. pmc The relationship between DNA methylation and telomere length in dyskeratosis congenita
    Shahinaz M Gadalla
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20852, USA
    Aging Cell 11:24-8. 2012
    ..17), subtelomeric (r = -0.20) were present in unaffected relatives. This study suggests an interaction between TL and both subtelomeric and LINE-1 methylation, which may be altered based on mutation status of telomere biology genes...
  15. pmc Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy
    Philip S Rosenberg
    Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20852, USA
    Br J Haematol 150:196-9. 2010
    ..Long-term, the annual risk of MDS/AML attained a plateau (2.3%/year after 10 years). This risk now appears similar to, rather than higher than, the risk of AML in Fanconi anaemia and dyskeratosis congenita...
  16. ncbi request reprint Cancer incidence in persons with Fanconi anemia
    Philip S Rosenberg
    Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA
    Blood 101:822-6. 2003
    ..The risk of a solid tumor may become even higher as death from aplastic anemia is reduced and as patients survive longer after BMT...
  17. pmc Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia
    Philip S Rosenberg
    Biostatistics Branch, Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Rockville, MD, USA
    Br J Haematol 140:210-3. 2008
    ..96). Patients with either mutant or wild-type ELA2 should be followed closely for leukaemic transformation...
  18. doi request reprint Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry
    Philip S Rosenberg
    Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd, Executive Plaza South, Room 8022, Rockville 20852 7244 USA
    Haematologica 93:511-7. 2008
    ..Prior epidemiological studies have quantified the risks of bone marrow failure, acute myeloid leukemia and solid tumors, but these estimates have not been replicated...
  19. ncbi request reprint Polymorphisms in cytokine and cellular adhesion molecule genes and susceptibility to hematotoxicity among workers exposed to benzene
    Qing Lan
    Division of Cancer Epidemiology, National Cancer Institute, NIH, Department of Health and Human Services, Bethesda, MD 20892 7240, USA
    Cancer Res 65:9574-81. 2005
    ..041) and increased (P = 0.076) CFU-GEMM progenitor cell colony formation in 29 benzene-exposed workers. This is the first report to provide evidence that SNPs in genes that regulate hematopoiesis influence benzene-induced hematotoxicity...
  20. pmc All in the family: disclosure of "unwanted" information to an adolescent to benefit a relative
    Colleen C Denny
    Department of Bioethics, National Institutes of Health Clinical Center, Bethesda, Maryland, USA
    Am J Med Genet A 146:2719-24. 2008
    ..However, an expanded ethical analysis that considers the adolescent's familial context offers a more complete picture of the adolescent's interests and preferences which provides justification for disclosure...
  21. ncbi request reprint Individualized risks of first adverse events in patients with Fanconi anemia
    Philip S Rosenberg
    Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd, Executive Plaza South, Rm 7006, Rockville, MD 20852 7244, USA
    Blood 104:350-5. 2004
    ..6% to 29% in the highest and lowest BMF risk groups, respectively. Abnormal radii are the strongest predictor of early BMF in FA; a congenital abnormality score separates patients with normal radii into distinct prognostic groups...
  22. pmc A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome
    Bari J Ballew
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, United States of America
    PLoS Genet 9:e1003695. 2013
    ..This study further implicates RTEL1 in the etiology of DC/HH and immunodeficiency, and identifies the first known homozygous autosomal recessive disease-associated mutation in RTEL1. ..
  23. pmc Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita
    Ekaterini T Tsilou
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Ophthalmology 117:615-22. 2010
    ..All 4 syndromes have been associated with various physical abnormalities. As part of a genotype/phenotype/cancer susceptibility study, we determined the prevalence of ophthalmic manifestations in these 4 syndromes...
  24. ncbi request reprint Risk of head and neck squamous cell cancer and death in patients with Fanconi anemia who did and did not receive transplants
    Philip S Rosenberg
    Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20852 7244, USA
    Blood 105:67-73. 2005
    ..13% per month (1.6% per year) after the first year. Acute and chronic graft-versus-host diseases were significant SCC risk factors. Adverse event rates in these cohorts provide historical control rates to assess emerging therapies for FA...
  25. ncbi request reprint Cancer survivorship--genetic susceptibility and second primary cancers: research strategies and recommendations
    Lois B Travis
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
    J Natl Cancer Inst 98:15-25. 2006
    ..These research areas warrant high priority to promote NCI's goal of eliminating pain and suffering related to cancer...
  26. pmc Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita
    Bari J Ballew
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd EPS 7018, Rockville, MD 20892, USA
    Hum Genet 132:473-80. 2013
    ..These findings implicate a new telomere biology gene, RTEL1, in the etiology of DC...
  27. pmc The role of telomere biology in bone marrow failure and other disorders
    Sharon A Savage
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20892, United States
    Mech Ageing Dev 129:35-47. 2008
    ..Longitudinal studies of patients with very short telomeres but without classical DC are necessary to further understand the long-term sequelae, such as malignancy, osteonecrosis/osteoporosis, and pulmonary and liver disease...
  28. ncbi request reprint Endocrine abnormalities in patients with Fanconi anemia
    Neelam Giri
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Boulevard EPS 7024, Rockville, Maryland 20852, USA
    J Clin Endocrinol Metab 92:2624-31. 2007
    ..Fanconi anemia (FA) is an inherited disorder with chromosomal instability, bone marrow failure, developmental defects, and a predisposition to cancer. Systematic and comprehensive endocrine function data in FA are limited...
  29. pmc TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita
    Sharon A Savage
    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
    Am J Hum Genet 82:501-9. 2008
    ..This represents the first shelterin complex mutation linked to human disease and confirms the role of very short telomeres as a diagnostic test for DC...
  30. pmc Estimation of the prevalence of Fanconi anemia among patients with de novo acute myelogenous leukemia who have poor recovery from chemotherapy
    Andrzej Rochowski
    Center for Cancer and Blood Disorders, Children s National Medical Center, Washington, DC, USA
    Leuk Res 36:29-31. 2012
    ..18%, and around 0.83% in the subset who had poor marrow recovery. We suggest that FA or other inherited bone marrow failure syndromes be considered prior to treatment, or certainly among those with poor recovery...
  31. pmc The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy
    Philip S Rosenberg
    Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20852 7244, USA
    Blood 107:4628-35. 2006
    ..Risk of MDS/AML may be similar in SDS and SCN. In less-responsive SCN patients, early hematopoietic stem cell transplantation may be a rational option...
  32. pmc Dyskeratosis congenita: the first NIH clinical research workshop
    Sharon A Savage
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland 20892, USA
    Pediatr Blood Cancer 53:520-3. 2009
    ..dcoutreach.com/). Ongoing, open collaboration between the clinical, scientific, and family communities is required for continued improvement in our understanding of DC and the clinical consequences of telomeric defects...
  33. pmc Dyskeratosis congenita
    Sharon A Savage
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 6120 Executive Boulevard, Rockville, MD 20852, USA
    Hematol Oncol Clin North Am 23:215-31. 2009
    ....
  34. ncbi request reprint Secular trends in outcomes for Fanconi anemia patients who receive transplants: implications for future studies
    Philip S Rosenberg
    Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20852, USA
    Biol Blood Marrow Transplant 11:672-9. 2005
    ..To demonstrate further advances in survival, transplant centers may need to coordinate their protocols and engage in multicenter collaborative studies...
  35. pmc A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay
    Kajal Biswas
    Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute at Frederick, Frederick, MD, USA
    Blood 118:2430-42. 2011
    ..L2510P, p.R2336H, and p.W2626C) to be deleterious and 2 (p.I2490T and p.K2729N) probably neutral. Such studies are important to understand the functional significance of unclassified BRCA2 variants...
  36. pmc Anti-Müllerian hormone deficiency in females with Fanconi anemia
    Martha M Sklavos
    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
    J Clin Endocrinol Metab 99:1608-14. 2014
    ..POI is typically diagnosed only after perimenopausal symptoms are observed...
  37. pmc Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita
    Shahinaz M Gadalla
    Clinical Genetic Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA
    Biol Blood Marrow Transplant 19:1238-43. 2013
    ..Late mortality was attributed mainly to pulmonary complications and likely related to the underlying disease. ..
  38. pmc Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromes
    Ken Matsui
    Human Papillomavirus Immunology Laboratory, Science Applications International Corporation SAIC Frederick, Incorporated, Frederick National Laboratory for Cancer Research, Frederick, MD, USA
    Br J Haematol 163:81-92. 2013
    ..Increased sensitivity to LPS may have clinical implications and could contribute to the development of pancytopenia by creating a chronic subclinical inflammatory micro-environment in the bone marrow...
  39. pmc Neutrophil functions in patients with inherited bone marrow failure syndromes
    Andrzej Rochowski
    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
    Pediatr Blood Cancer 57:306-9. 2011
    ..Previous studies reported decreased neutrophil chemotaxis in patients with SDS; there are no reports of neutrophil function in other IBMFS. In this study we examined neutrophil respiratory burst function in IBMFS patients...
  40. pmc Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia
    John H Fargo
    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
    Br J Haematol 160:547-54. 2013
    ..Erythrocyte ADA segregated with, as well as independent of, known DBA gene mutations. While eADA was an excellent confirmatory test for DBA, 16% of patients with classical clinical DBA had a normal eADA...
  41. doi request reprint Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita
    Sharon A Savage
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Department of Health and Human Services, Bethesda, MD, USA
    J Med Genet 48:285-8. 2011
    ..The shelterin complex consists of six proteins encoded by TINF2, ACD, POT1, TERF1, TERF2 and TERF2IP, which are essential for telomeric stability. TINF2 mutations are present in 11-25% of patients with DC...
  42. pmc Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes
    Shahinaz M Gadalla
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20852, USA
    Aging (Albany NY) 2:867-74. 2010
    ..66, p=0.002), blood and buccal cells (r=0.74, p<0.0001), and fibroblast and buccal cells (r=0.65, p=0.004). These data suggest that relative TL is tissue-independent in DC and possibly in the other IBMFS...
  43. pmc Patients with Fanconi anemia and AML have different cytogenetic clones than de novo cases of AML
    Andrzej Rochowski
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20852 7231, USA
    Pediatr Blood Cancer 59:922-4. 2012
    ..Observation of the FA AML cytogenetic clonal patterns should raise suspicion of an underlying leukemia predisposition syndrome and influence management...
  44. pmc How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and Israel
    Philip S Rosenberg
    Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, Maryland, USA
    Am J Med Genet A 155:1877-83. 2011
    ..Assessment of cancer risks in heterozygous carriers merits further study. Clinical trials in FA will require co-ordination and innovative design because the number of living US patients is probably less than 1,000...
  45. pmc Bone marrow cell cycle markers in inherited bone marrow failure syndromes
    Mohamad M Al-Rahawan
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA
    Leuk Res 32:1793-9. 2008
    ..The patterns of expression of cell cycle markers in IBMFS are thus distinct. Longitudinal studies will determine the diagnostic and prognostic significance of these findings...
  46. ncbi request reprint Thrombocytopenia, multiple mucosal squamous cell carcinomas, and dyspigmentation
    Marisa Braun
    Dermatology Branch, Center for Cancer Research, Division of Cancer Epidemiology and Research, National Institutes of Health, Bethesda, Maryland, USA
    J Am Acad Dermatol 54:1056-9. 2006
  47. ncbi request reprint Androgens and liver tumors: Fanconi's anemia and non-Fanconi's conditions
    Isela Velazquez
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Department of Health and Human Services, Bethesda, Maryland 20892, USA
    Am J Hematol 77:257-67. 2004
    ..The magnitude of the risk cannot be determined from currently available data, because the number of patients receiving androgens is unknown...
  48. ncbi request reprint Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families
    Lisa Mirabello
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD
    Blood 124:24-32. 2014
    ..We uncovered a novel DBA causative gene, RPS29, and showed that germ-line mutations in RPS29 can cause a defective erythropoiesis phenotype using a zebra fish model. ..
  49. pmc Response to androgen therapy in patients with dyskeratosis congenita
    Payal P Khincha
    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
    Br J Haematol 165:349-57. 2014
    ..This study suggests that androgen therapy can be effectively used to treat bone marrow failure in DC, but that side effects need to be closely monitored. ..
  50. pmc Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review
    Neelam Giri
    Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Rockville 20852, MD, USA
    BMC Blood Disord 11:3. 2011
    ..abstract:..
  51. pmc Hematotoxicity in workers exposed to low levels of benzene
    Qing Lan
    Division of Cancer Epidemiology and Genetics, National Cancer Institute NCI, National Institutes of Health NIH, Department of Health and Human Services DHHS, Bethesda, MD 20892, USA
    Science 306:1774-6. 2004
    ..Thus, hematotoxicity from exposure to benzene occurred at air levels of 1 ppm or less and may be particularly evident among genetically susceptible subpopulations...
  52. pmc Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders
    Douglas R Stewart
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, Maryland, United States of America
    PLoS ONE 9:e98686. 2014
    ..As a clinical entity, Dubowitz syndrome will need continual re-evaluation and re-definition as its constituent phenotypes are determined. ..
  53. ncbi request reprint Radiosensitivity in Fanconi's anemia patients
    Blanche P Alter
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Boulevard, EPS 7020, Rockville, MD 20852, USA
    Radiother Oncol 62:345-7. 2002
    ..Possible toxicity was reported in six of 14 patients: 1/1 with vaginal cancer, 4/10 with head and neck or esophageal cancer, and 1/3 with oral cancer following bone marrow transplant...
  54. ncbi request reprint Risk of myelodysplastic syndrome and acute myeloid leukemia in congenital neutropenias
    Melvin H Freedman
    Division of Hematology Oncology and the Research Institute, Hospital for Sick Children, University of Toronto, Toronto, Canada
    Semin Hematol 39:128-33. 2002
    ..One option is to reduce the G-CSF dosage as much as possible, and observe the tempo of progression, if any, to more overt signs of malignancy...
  55. ncbi request reprint Shwachman-Diamond syndrome: report from an international conference
    Robert Rothbaum
    St Louis Children s Hospital, St Louis, Missouri, USA
    J Pediatr 141:266-70. 2002
  56. ncbi request reprint Malignant myeloid transformation in congenital forms of neutropenia
    Melvin H Freedman
    Division of Hematology Oncology and Research Institute, Hospital for Sick Children, University of Toronto, Toronto, Canada
    Isr Med Assoc J 4:1011-4. 2002
    ..The issue is complicated because both disorders have a propensity for MDS or AML as part of their natural history...
  57. ncbi request reprint Use of single nucleotide polymorphism arrays to identify a novel region of loss on chromosome 6q in squamous cell carcinomas of the oral cavity
    Betty C Tong
    Department of Otolaryngology Head and Neck Surgery, Head and Neck Cancer Research Division, Johns Hopkins Medical School, 818 Ross Research Building, 720 Rutland Avenue, Baltimore, Maryland 21205 2196, USA
    Head Neck 26:345-52. 2004
    ..A subset of patients with oral cavity squamous cell carcinoma(SCC), often of young age yet lacking a history of carcinogen exposure, has been identified, with no clear etiology for tumor development...
  58. ncbi request reprint The association between FANCD1/BRCA2 mutations and leukaemia
    Blanche P Alter
    Br J Haematol 133:446-8; author reply 448. 2006
  59. ncbi request reprint Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita
    Mohamad M Al-Rahawan
    Int J Hematol 83:275-6. 2006
  60. ncbi request reprint Cancer in Fanconi anemia
    Blanche P Alter
    Blood 101:2072. 2003
  61. ncbi request reprint Lineage-specific hematopoietic growth factors
    David C Dale
    N Engl J Med 355:526-7; author reply 527. 2006
  62. ncbi request reprint Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure
    Sharon A Savage
    Blood Cells Mol Dis 37:134-6. 2006
  63. ncbi request reprint Granulocyte colony-stimulating factor and severe aplastic anemia
    Blanche P Alter
    Blood 109:4589; author reply 4589-90. 2007
  64. ncbi request reprint Experiences of siblings of patients with Fanconi anemia
    Sadie P Hutson
    Department of Family Community Nursing, College of Nursing, East Tennessee State University, Tennessee, USA
    Pediatr Blood Cancer 48:72-9. 2007
    ..The purpose of this study was to explore the experiences of healthy siblings of patients with a chronic genetic disease, Fanconi Anemia (FA)...
  65. ncbi request reprint The CCC system: is it really the answer to pediatric MDS?
    Blanche P Alter
    J Pediatr Hematol Oncol 25:426-7; author reply 427-8. 2003
  66. ncbi request reprint Current diagnosis of inherited bone marrow failure syndromes
    Hannah Tamary
    Department of Pediatric Hematology Oncology, Schneider Children s Medical Center of Israel, Petach Tikva, Israel
    Pediatr Hematol Oncol 24:87-99. 2007
    ..Heterozygote ELA2 mutations are found in 60-80% of severe congenital neutropenia patients. All patients with congenital amegakaryocytic thrombocytopenia have mutations in the thrombopoietin receptor gene c-Mpl...
  67. ncbi request reprint p53 protein overexpression in bone marrow biopsies of patients with Shwachman-Diamond syndrome has a prevalence similar to that of patients with refractory anemia
    M Tarek Elghetany
    Department of Pathology, University of Texas Medical Branch, Galveston, TX 77555 0743, USA
    Arch Pathol Lab Med 126:452-5. 2002
    ..This similarity was further investigated for p53 protein overexpression using archived tissue from patients with hematologic diseases having various leukemic propensities, including SDS and refractory anemia...
  68. ncbi request reprint Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte colony-stimulating factor
    Neelam Giri
    Br J Haematol 138:815-7. 2007
  69. ncbi request reprint Fanconi anemia
    Grover C Bagby
    OHSU Cancer Institute, Department of Medicine and Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR 97239, USA
    Semin Hematol 43:147-56. 2006
    ....