Alter BP - Search Results

1

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. Mirabello L, et al. Among authors: alter bp. J Med Genet. 2017 Jun;54(6):417-425. doi: 10.1136/jmedgenet-2016-104346. Epub 2017 Mar 9. J Med Genet. 2017. PMID: 28280134 Clinical Trial.

2

Thrombocytopenia, multiple mucosal squamous cell carcinomas, and dyspigmentation.

Braun M, Giri N, Alter BP, Cowen EW. Braun M, et al. Among authors: alter bp. J Am Acad Dermatol. 2006 Jun;54(6):1056-9. doi: 10.1016/j.jaad.2006.02.065. J Am Acad Dermatol. 2006. PMID: 16713462 No abstract available.

3

Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita.

Al-Rahawan MM, Giri N, Alter BP. Al-Rahawan MM, et al. Among authors: alter bp. Int J Hematol. 2006 Apr;83(3):275-6. doi: 10.1532/IJH97.06030. Int J Hematol. 2006. PMID: 16720563 No abstract available.

4

Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

Alter BP, Rosenberg PS, Brody LC. Alter BP, et al. J Med Genet. 2007 Jan;44(1):1-9. doi: 10.1136/jmg.2006.043257. Epub 2006 Jul 6. J Med Genet. 2007. PMID: 16825431 Free PMC article.

5

Endocrine abnormalities in patients with Fanconi anemia.

Giri N, Batista DL, Alter BP, Stratakis CA. Giri N, et al. Among authors: alter bp. J Clin Endocrinol Metab. 2007 Jul;92(7):2624-31. doi: 10.1210/jc.2007-0135. Epub 2007 Apr 10. J Clin Endocrinol Metab. 2007. PMID: 17426088

6

Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita.

Alter BP, Baerlocher GM, Savage SA, Chanock SJ, Weksler BB, Willner JP, Peters JA, Giri N, Lansdorp PM. Alter BP, et al. Blood. 2007 Sep 1;110(5):1439-47. doi: 10.1182/blood-2007-02-075598. Epub 2007 Apr 27. Blood. 2007. PMID: 17468339 Free PMC article. Clinical Trial.

7

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

Savage SA, Alter BP. Savage SA, et al. Among authors: alter bp. Mech Ageing Dev. 2008 Jan-Feb;129(1-2):35-47. doi: 10.1016/j.mad.2007.11.002. Epub 2007 Nov 19. Mech Ageing Dev. 2008. PMID: 18160098 Free PMC article. Review.

8

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

Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP. Savage SA, et al. Among authors: alter bp. Am J Hum Genet. 2008 Feb;82(2):501-9. doi: 10.1016/j.ajhg.2007.10.004. Epub 2008 Jan 31. Am J Hum Genet. 2008. PMID: 18252230 Free PMC article.

9

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.

Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM; Participants of Sixth Annual Daniella Maria Arturi International Consensus Conference. Vlachos A, et al. Among authors: alter bp. Br J Haematol. 2008 Sep;142(6):859-76. doi: 10.1111/j.1365-2141.2008.07269.x. Epub 2008 Jul 30. Br J Haematol. 2008. PMID: 18671700 Free PMC article.

10

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

Denny CC, Wilfond BS, Peters JA, Giri N, Alter BP. Denny CC, et al. Among authors: alter bp. Am J Med Genet A. 2008 Nov 1;146A(21):2719-24. doi: 10.1002/ajmg.a.32362. Am J Med Genet A. 2008. PMID: 18831063 Free PMC article.

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