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Items: 10

1.

Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.

Arbiv OA, Cuvelier G, Klaassen RJ, Fernandez CV, Robitaille N, Steele M, Breakey V, Abish S, Wu J, Sinha R, Silva M, Goodyear L, Jardine L, Lipton JH, Corriveau-Bourque C, Brossard J, Michon B, Ghemlas I, Waespe N, Zlateska B, Sung L, Cada M, Dror Y.

Clin Genet. 2018 Feb;93(2):320-328. doi: 10.1111/cge.13158. Epub 2017 Dec 27.

PMID:
29044489
2.

The clinical impact of copy number variants in inherited bone marrow failure syndromes.

Waespe N, Dhanraj S, Wahala M, Tsangaris E, Enbar T, Zlateska B, Li H, Klaassen RJ, Fernandez CV, Cuvelier GDE, Wu JK, Pastore YD, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Sinha R, Belletrutti MJ, Breakey VR, Jardine L, Goodyear L, Kofler L, Cada M, Sung L, Shago M, Scherer SW, Dror Y.

NPJ Genom Med. 2017 May 10;2. pii: 18. doi: 10.1038/s41525-017-0019-2.

3.

Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.

Dhanraj S, Matveev A, Li H, Lauhasurayotin S, Jardine L, Cada M, Zlateska B, Tailor CS, Zhou J, Mendoza-Londono R, Vincent A, Durie PR, Scherer SW, Rommens JM, Heon E, Dror Y.

Blood. 2017 Mar 16;129(11):1557-1562. doi: 10.1182/blood-2016-08-735431. Epub 2017 Jan 6. No abstract available.

4.

Response to treatment with azacitidine in children with advanced myelodysplastic syndrome prior to hematopoietic stem cell transplantation.

Waespe N, Van Den Akker M, Klaassen RJ, Lieberman L, Irwin MS, Ali SS, Abdelhaleem M, Zlateska B, Liebman M, Cada M, Schechter T, Dror Y.

Haematologica. 2016 Dec;101(12):1508-1515. Epub 2016 Aug 18.

5.

Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.

Ghemlas I, Li H, Zlateska B, Klaassen R, Fernandez CV, Yanofsky RA, Wu J, Pastore Y, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Sinha R, Belletrutti M, Breakey VR, Jardine L, Goodyear L, Sung L, Dhanraj S, Reble E, Wagner A, Beyene J, Ray P, Meyn S, Cada M, Dror Y.

J Med Genet. 2015 Sep;52(9):575-84. doi: 10.1136/jmedgenet-2015-103270. Epub 2015 Jul 1.

PMID:
26136524
6.

Treatment of dyskeratosis congenita-associated pulmonary fibrosis with danazol.

Zlateska B, Ciccolini A, Dror Y.

Pediatr Pulmonol. 2015 Dec;50(12):E48-51. doi: 10.1002/ppul.23235. Epub 2015 Jun 17.

PMID:
26083318
7.

The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes.

Cada M, Segbefia CI, Klaassen R, Fernandez CV, Yanofsky RA, Wu J, Pastore Y, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Sinha R, Belletrutti M, Breakey V, Jardine L, Goodyear L, Sung L, Shago M, Beyene J, Sharma P, Zlateska B, Dror Y.

Haematologica. 2015 May;100(5):633-42. doi: 10.3324/haematol.2014.117457. Epub 2015 Feb 14.

8.

Decisional regret after distal hypospadias repair: single institution prospective analysis of factors associated with subsequent parental remorse or distress.

Lorenzo AJ, Pippi Salle JL, Zlateska B, Koyle MA, Bägli DJ, Braga LH.

J Urol. 2014 May;191(5 Suppl):1558-63. doi: 10.1016/j.juro.2013.10.036. Epub 2014 Mar 26.

PMID:
24679868
9.

Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia.

Boonyawat B, Dhanraj S, Al Abbas F, Zlateska B, Grunenbaum E, Roifman CM, Steele L, Meyn S, Blanchette V, Scherer SW, Swierczek S, Prchal J, Zhu Q, Torgerson TR, Ochs HD, Dror Y.

J Clin Immunol. 2013 Oct;33(7):1150-5. doi: 10.1007/s10875-013-9927-9. Epub 2013 Aug 14.

PMID:
23943155
10.

Analysis of decisional conflict among parents who consent to hypospadias repair: single institution prospective study of 100 couples.

Lorenzo AJ, Braga LH, Zlateska B, Leslie B, Farhat WA, Bägli DJ, Pippi Salle JL.

J Urol. 2012 Aug;188(2):571-5. doi: 10.1016/j.juro.2012.04.022. Epub 2012 Jun 15.

PMID:
22704113

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