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Items: 1 to 20 of 53

1.

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 May 31. doi: 10.1038/pr.2017.117. [Epub ahead of print]

PMID:
28486441
2.

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
3.

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.

4.

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.

PMID:
27570172
5.

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
6.

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.

7.

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.

8.

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
9.

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.

10.

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):386-91. doi: 10.1002/ajmg.a.37461. Epub 2015 Nov 21.

PMID:
26590883
11.

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). 2015 Aug 24. doi: 10.1111/cen.12883. [Epub ahead of print] No abstract available.

PMID:
26300308
12.

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.

13.

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.

14.

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.

15.

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.

16.

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.

17.

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
18.

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.

19.

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.

20.

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.

Mirabello L, Macari ER, Jessop L, Ellis SR, Myers T, Giri N, Taylor AM, McGrath KE, Humphries JM, Ballew BJ, Yeager M, Boland JF, He J, Hicks BD, Burdett L, Alter BP, Zon L, Savage SA.

Blood. 2014 Jul 3;124(1):24-32. doi: 10.1182/blood-2013-11-540278. Epub 2014 May 14.

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