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Items: 1 to 50 of 283

1.

Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder.

Giri N, Ravichandran S, Wang Y, Gadalla SM, Alter BP, Fontana J, Savage SA.

ERJ Open Res. 2019 Nov 15;5(4). pii: 00209-2019. doi: 10.1183/23120541.00209-2019. eCollection 2019 Oct.

2.

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

Fiesco-Roa MO, Giri N, McReynolds LJ, Best AF, Alter BP.

Blood Rev. 2019 Sep;37:100589. doi: 10.1016/j.blre.2019.100589. Epub 2019 Jul 16. Review.

PMID:
31351673
3.

Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.

Kim J, Luo W, Wang M, Wegman-Ostrosky T, Frone MN, Johnston JJ, Nickerson ML, Rotunno M, Li SA, Achatz MI, Brodie SA, Dean M, de Andrade KC, Fortes FP, Gianferante M, Khincha P, McMaster ML, McReynolds LJ, Pemov A, Pinheiro M, Santiago KM, Alter BP, Caporaso NE, Gadalla SM, Goldin LR, Greene MH, Loud J, Yang XR, Freedman ND, Gapstur SM, Gaudet MM, Calista D, Ghiorzo P, Fargnoli MC, Nagore E, Peris K, Puig S, Landi MT, Hicks B, Zhu B, Liu J, Sampson JN, Chanock SJ, Mirabello LJ, Morton LM, Biesecker LG, Tucker MA, Savage SA, Goldstein AM, Stewart DR.

Genome Med. 2018 Dec 24;10(1):99. doi: 10.1186/s13073-018-0607-5.

4.

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

Vlachos A, Rosenberg PS, Atsidaftos E, Kang J, Onel K, Sharaf RN, Alter BP, Lipton JM.

Blood. 2018 Nov 15;132(20):2205-2208. doi: 10.1182/blood-2018-05-848937. Epub 2018 Sep 28. No abstract available.

5.

Understanding the evolving phenotype of vascular complications in telomere biology disorders.

Higgs C, Crow YJ, Adams DM, Chang E, Hayes D Jr, Herbig U, Huang JN, Himes R, Jajoo K, Johnson FB, Reynolds SD, Yonekawa Y, Armanios M, Boulad F, DiNardo CD, Dufour C, Goldman FD, Khan S, Kratz C, Myers KC, Raghu G, Alter BP, Aubert G, Bhala S, Cowen EW, Dror Y, El-Youssef M, Friedman B, Giri N, Helms Guba L, Khincha PP, Lin TF, Longhurst H, McReynolds LJ, Nelson A, Olson T, Pariser A, Perona R, Sasa G, Schratz K, Simonetto DA, Townsley D, Walsh M, Stevens K, Agarwal S, Bertuch AA, Savage SA; Clinical Care Consortium for Telomere-associated Ailments (CCCTAA).

Angiogenesis. 2019 Feb;22(1):95-102. doi: 10.1007/s10456-018-9640-7. Epub 2018 Aug 25.

PMID:
30168024
6.

Serum alpha fetoprotein levels in Fanconi anaemia.

Alter BP, Giri N.

Br J Haematol. 2019 Mar;184(6):1074-1076. doi: 10.1111/bjh.15517. Epub 2018 Aug 20. No abstract available.

PMID:
30125993
7.

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

Wang Y, Zhou W, Alter BP, Wang T, Spellman SR, Haagenson M, Yeager M, Lee SJ, Chanock SJ, Savage SA, Gadalla SM.

Biol Blood Marrow Transplant. 2018 Oct;24(10):2003-2008. doi: 10.1016/j.bbmt.2018.05.027. Epub 2018 Jun 4.

8.

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

Khincha PP, Bertuch AA, Gadalla SM, Giri N, Alter BP, Savage SA.

Blood Adv. 2018 Jun 12;2(11):1243-1249. doi: 10.1182/bloodadvances.2018016964.

9.

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

Ungar RA, Giri N, Pao M, Khincha PP, Zhou W, Alter BP, Savage SA.

Am J Med Genet A. 2018 Jun;176(6):1432-1437. doi: 10.1002/ajmg.a.38706. Epub 2018 Apr 25.

10.

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

Alter BP.

Hematology Am Soc Hematol Educ Program. 2017 Dec 8;2017(1):88-95. doi: 10.1182/asheducation-2017.1.88. Review.

11.

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

Alter BP.

Blood. 2017 Nov 23;130(21):2257-2264. doi: 10.1182/blood-2017-05-781799. Review.

12.

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

Alter BP, Giri N, Savage SA, Rosenberg PS.

Haematologica. 2018 Jan;103(1):30-39. doi: 10.3324/haematol.2017.178111. Epub 2017 Oct 19.

13.

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

Ward SC, Savage SA, Giri N, Alter BP, Rosenberg PS, Pichard DC, Cowen EW.

J Am Acad Dermatol. 2018 Apr;78(4):804-806. doi: 10.1016/j.jaad.2017.10.017. Epub 2017 Oct 16. No abstract available.

14.

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

Ward SC, Savage SA, Giri N, Alter BP, Cowen EW.

J Am Acad Dermatol. 2017 Dec;77(6):1194-1198. doi: 10.1016/j.jaad.2017.07.018. Epub 2017 Oct 21.

15.

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

Giri N, Stratton P, Savage SA, Alter BP.

Blood. 2017 Oct 5;130(14):1674-1676. doi: 10.1182/blood-2017-08-802991. Epub 2017 Aug 24. No abstract available.

16.

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

Khincha PP, Dagnall CL, Hicks B, Jones K, Aviv A, Kimura M, Katki H, Aubert G, Giri N, Alter BP, Savage SA, Gadalla SM.

Int J Mol Sci. 2017 Aug 13;18(8). pii: E1765. doi: 10.3390/ijms18081765.

17.

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

Giri N, Reed HD, Stratton P, Savage SA, Alter BP.

Pediatr Blood Cancer. 2018 Jan;65(1). doi: 10.1002/pbc.26757. Epub 2017 Aug 12.

PMID:
28801981
18.

Late Effects Screening Guidelines after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement From the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects After Pediatric HCT.

Dietz AC, Savage SA, Vlachos A, Mehta PA, Bresters D, Tolar J, Bonfim C, Dalle JH, de la Fuente J, Skinner R, Boulad F, Duncan CN, Baker KS, Pulsipher MA, Lipton JM, Wagner JE, Alter BP.

Biol Blood Marrow Transplant. 2017 Sep;23(9):1422-1428. doi: 10.1016/j.bbmt.2017.05.022. Epub 2017 May 19. Review.

19.

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

Shankar RK, Giri N, Lodish MB, Sinaii N, Reynolds JC, Savage SA, Stratakis CA, Alter BP.

Pediatr Res. 2017 Sep;82(3):458-464. doi: 10.1038/pr.2017.117. Epub 2017 May 31.

20.

Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.

Mirabello L, Khincha PP, Ellis SR, Giri N, Brodie S, Chandrasekharappa SC, Donovan FX, Zhou W, Hicks BD, Boland JF, Yeager M, Jones K, Zhu B, Wang M, Alter BP, Savage SA.

J Med Genet. 2017 Jun;54(6):417-425. doi: 10.1136/jmedgenet-2016-104346. Epub 2017 Mar 9.

PMID:
28280134
21.

Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors.

Doulatov S, Vo LT, Macari ER, Wahlster L, Kinney MA, Taylor AM, Barragan J, Gupta M, McGrath K, Lee HY, Humphries JM, DeVine A, Narla A, Alter BP, Beggs AH, Agarwal S, Ebert BL, Gazda HT, Lodish HF, Sieff CA, Schlaeger TM, Zon LI, Daley GQ.

Sci Transl Med. 2017 Feb 8;9(376). pii: eaah5645. doi: 10.1126/scitranslmed.aah5645.

22.

Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric Hematopoietic Cell Transplantation.

Dietz AC, Mehta PA, Vlachos A, Savage SA, Bresters D, Tolar J, Boulad F, Dalle JH, Bonfim C, de la Fuente J, Duncan CN, Baker KS, Pulsipher MA, Lipton JM, Wagner JE, Alter BP.

Biol Blood Marrow Transplant. 2017 May;23(5):726-735. doi: 10.1016/j.bbmt.2017.01.075. Epub 2017 Jan 20. Review.

23.

Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders.

Khincha PP, Bertuch AA, Agarwal S, Townsley DM, Young NS, Keel S, Shimamura A, Boulad F, Simoneau T, Justino H, Kuo C, Artandi S, McCaslin C, Cox DW, Chaffee S, Collins BF, Giri N, Alter BP, Raghu G, Savage SA.

Eur Respir J. 2017 Jan 25;49(1). pii: 1601640. doi: 10.1183/13993003.01640-2016. Print 2017 Jan. No abstract available.

24.

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

Xu J, Khincha PP, Giri N, Alter BP, Savage SA, Wong JM.

Am J Hematol. 2016 Dec;91(12):1215-1220. doi: 10.1002/ajh.24545. Epub 2016 Nov 4.

25.

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

Kalejaiye A, Giri N, Brewer CC, Zalewski CK, King KA, Adams CD, Rosenberg PS, Kim HJ, Alter BP.

Pediatr Blood Cancer. 2016 Dec;63(12):2139-2145. doi: 10.1002/pbc.26155. Epub 2016 Jul 18.

PMID:
27428025
26.

The Second Pediatric Blood and Marrow Transplant Consortium International Consensus Conference on Late Effects after Pediatric Hematopoietic Cell Transplantation: Defining the Unique Late Effects of Children Undergoing Hematopoietic Cell Transplantation for Immune Deficiencies, Inherited Marrow Failure Disorders, and Hemoglobinopathies.

Dietz AC, Duncan CN, Alter BP, Bresters D, Cowan MJ, Notarangelo L, Rosenberg PS, Shenoy S, Skinner R, Walters MC, Wagner J, Baker KS, Pulsipher MA.

Biol Blood Marrow Transplant. 2017 Jan;23(1):24-29. doi: 10.1016/j.bbmt.2016.10.004. Epub 2016 Oct 11. Review.

27.

Heritable cancer: Rounding up the not so usual suspects.

Lipton JM, Alter BP.

Pediatr Blood Cancer. 2017 Feb;64(2):219-220. doi: 10.1002/pbc.26190. Epub 2016 Oct 8. No abstract available.

PMID:
27718323
28.

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

Gadalla SM, Khincha PP, Katki HA, Giri N, Wong JY, Spellman S, Yanovski JA, Han JC, De Vivo I, Alter BP, Savage SA.

Mol Genet Genomic Med. 2016 Mar 20;4(4):475-9. doi: 10.1002/mgg3.220. eCollection 2016 Jul.

29.

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

Khan NE, Rosenberg PS, Alter BP.

Biol Blood Marrow Transplant. 2016 Oct;22(10):1888-1892. doi: 10.1016/j.bbmt.2016.06.018. Epub 2016 Jun 21.

30.

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

Loud JT, Bremer RC, Mai PL, Peters JA, Giri N, Stewart DR, Greene MH, Alter BP, Savage SA.

Genet Med. 2016 Dec;18(12):1218-1225. doi: 10.1038/gim.2016.36. Epub 2016 Apr 21.

31.

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

Alter BP, Giri N.

Am J Med Genet A. 2016 Jun;170(6):1520-4. doi: 10.1002/ajmg.a.37637. Epub 2016 Mar 30.

PMID:
27028275
32.

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

Burris AM, Ballew BJ, Kentosh JB, Turner CE, Norton SA; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group, Giri N, Alter BP, Nellan A, Gamper C, Hartman KR, Savage SA.

Pediatr Neurol. 2016 Mar;56:62-68.e1. doi: 10.1016/j.pediatrneurol.2015.12.005. Epub 2015 Dec 19.

33.

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

Alter BP, Rosenberg PS.

Laryngoscope. 2016 Jun;126(6):E229. doi: 10.1002/lary.25874. Epub 2016 Jan 23. No abstract available.

34.

Novel FANCI mutations in Fanconi anemia with VACTERL association.

Savage SA, Ballew BJ, Giri N; NCI DCEG Cancer Genomics Research Laboratory, Chandrasekharappa SC, Ameziane N, de Winter J, Alter BP; NCI DCEG Cancer Sequencing Working Group.

Am J Med Genet A. 2016 Feb;170A(2):386-391. doi: 10.1002/ajmg.a.37461. Epub 2015 Nov 21.

PMID:
26590883
35.
36.

Pituitary abnormalities in patients with Fanconi anaemia.

Kanakatti Shankar R, Giri N, Lodish MB, Butman JA, Patronas NJ, Sinaii N, Keil M, Alter BP, Stratakis CA.

Clin Endocrinol (Oxf). 2016 Feb;84(2):307-309. doi: 10.1111/cen.12883. Epub 2015 Sep 22. No abstract available.

PMID:
26300308
37.

Preemptive Bone Marrow Transplantation for FANCD1/BRCA2.

Khan NE, Rosenberg PS, Lehmann HP, Alter BP.

Biol Blood Marrow Transplant. 2015 Oct;21(10):1796-801. doi: 10.1016/j.bbmt.2015.07.006. Epub 2015 Jul 14.

38.

Second Allogeneic Hematopoietic Cell Transplantation for Patients with Fanconi Anemia and Bone Marrow Failure.

Ayas M, Eapen M, Le-Rademacher J, Carreras J, Abdel-Azim H, Alter BP, Anderlini P, Battiwalla M, Bierings M, Buchbinder DK, Bonfim C, Camitta BM, Fasth AL, Gale RP, Lee MA, Lund TC, Myers KC, Olsson RF, Page KM, Prestidge TD, Radhi M, Shah AJ, Schultz KR, Wirk B, Wagner JE, Deeg HJ.

Biol Blood Marrow Transplant. 2015 Oct;21(10):1790-5. doi: 10.1016/j.bbmt.2015.06.012. Epub 2015 Jun 23.

39.

Immune status of patients with inherited bone marrow failure syndromes.

Giri N, Alter BP, Penrose K, Falk RT, Pan Y, Savage SA, Williams M, Kemp TJ, Pinto LA.

Am J Hematol. 2015 Aug;90(8):702-8. doi: 10.1002/ajh.24046. Epub 2015 May 28.

40.

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

Petryk A, Kanakatti Shankar R, Giri N, Hollenberg AN, Rutter MM, Nathan B, Lodish M, Alter BP, Stratakis CA, Rose SR.

J Clin Endocrinol Metab. 2015 Mar;100(3):803-11. doi: 10.1210/jc.2014-4357. Epub 2015 Jan 9. Review.

41.

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

Hamilton JG, Hutson SP, Frohnmayer AE, Han PK, Peters JA, Carr AG, Alter BP.

J Genet Couns. 2015 Oct;24(5):760-70. doi: 10.1007/s10897-014-9807-3. Epub 2014 Dec 27.

42.

Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders.

Balakumaran A, Mishra PJ, Pawelczyk E, Yoshizawa S, Sworder BJ, Cherman N, Kuznetsov SA, Bianco P, Giri N, Savage SA, Merlino G, Dumitriu B, Dunbar CE, Young NS, Alter BP, Robey PG.

Blood. 2015 Jan 29;125(5):793-802. doi: 10.1182/blood-2014-06-566810. Epub 2014 Dec 12.

43.

Fanconi anemia and the development of leukemia.

Alter BP.

Best Pract Res Clin Haematol. 2014 Sep-Dec;27(3-4):214-21. doi: 10.1016/j.beha.2014.10.002. Epub 2014 Oct 15. Review.

44.

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

Sklavos MM, Stratton P, Giri N, Alter BP, Savage SA, Pinto LA.

J Clin Endocrinol Metab. 2015 Feb;100(2):E197-203. doi: 10.1210/jc.2014-2838. Epub 2014 Nov 18.

45.

Telomere length in inherited bone marrow failure syndromes.

Alter BP, Giri N, Savage SA, Rosenberg PS.

Haematologica. 2015 Jan;100(1):49-54. doi: 10.3324/haematol.2014.114389. Epub 2014 Oct 10.

46.

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

Lebel A, Yacobovich J, Krasnov T, Koren A, Levin C, Kaplinsky C, Ravel-Vilk S, Laor R, Attias D, Ben Barak A, Shtager D, Stein J, Kuperman A, Miskin H, Dgany O, Giri N, Alter BP, Tamary H.

Pediatr Blood Cancer. 2015 Jan;62(1):103-8. doi: 10.1002/pbc.25251. Epub 2014 Oct 4.

PMID:
25284454
47.

Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.

Kocak H, Ballew BJ, Bisht K, Eggebeen R, Hicks BD, Suman S, O'Neil A, Giri N; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group, Maillard I, Alter BP, Keegan CE, Nandakumar J, Savage SA.

Genes Dev. 2014 Oct 1;28(19):2090-102. doi: 10.1101/gad.248567.114. Epub 2014 Sep 18.

48.

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

Fargo JH, Rochowski A, Giri N, Savage SA, Olson SB, Alter BP.

Cytogenet Genome Res. 2014;144(1):15-27. doi: 10.1159/000366251. Epub 2014 Sep 11.

49.

Pearson syndrome in a Diamond-Blackfan anemia cohort.

Alter BP.

Blood. 2014 Jul 17;124(3):312-3. doi: 10.1182/blood-2014-04-571687.

50.

Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.

Stewart DR, Pemov A, Johnston JJ, Sapp JC, Yeager M, He J, Boland JF, Burdett L, Brown C, Gatti RA, Alter BP, Biesecker LG, Savage SA.

PLoS One. 2014 Jun 3;9(6):e98686. doi: 10.1371/journal.pone.0098686. eCollection 2014.

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