Neelam Giri

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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

Collaborators

Detail Information

Publications26

  1. 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:..
  2. 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...
  3. 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...
  4. 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...
  5. 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. ..
  6. 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...
  7. 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...
  8. 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. ..
  9. 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...
  10. 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...
  11. 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
    ....
  12. 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...
  13. 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. ..
  14. 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...
  15. 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...
  16. 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...
  17. 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
    ....
  18. 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. ..
  19. 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...
  20. 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. ..
  21. 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. ..
  22. 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
    ....
  23. 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...
  24. 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
  25. 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
  26. ncbi request reprint Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita
    Mohamad M Al-Rahawan
    Int J Hematol 83:275-6. 2006