Roifman CM - Search Results

1

Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.

Tsangaris E, Klaassen R, Fernandez CV, Yanofsky R, Shereck E, Champagne J, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Hand JP, Odame I, Canning P, Allen C, Carcao M, Beyene J, Roifman CM, Dror Y. Tsangaris E, et al. Among authors: roifman cm. J Med Genet. 2011 Sep;48(9):618-28. doi: 10.1136/jmg.2011.089821. Epub 2011 Jun 9. J Med Genet. 2011. PMID: 21659346

2

Immune function in patients with Shwachman-Diamond syndrome.

Dror Y, Ginzberg H, Dalal I, Cherepanov V, Downey G, Durie P, Roifman CM, Freedman MH. Dror Y, et al. Among authors: roifman cm. Br J Haematol. 2001 Sep;114(3):712-7. doi: 10.1046/j.1365-2141.2001.02996.x. Br J Haematol. 2001. PMID: 11553003 Free article.

3

Purine nucleoside phosphorylase deficiency associated with a dysplastic marrow morphology.

Dror Y, Grunebaum E, Hitzler J, Narendran A, Ye C, Tellier R, Edwards V, Freedman MH, Roifman CM. Dror Y, et al. Among authors: roifman cm. Pediatr Res. 2004 Mar;55(3):472-7. doi: 10.1203/01.PDR.0000111286.23110.F8. Epub 2004 Jan 7. Pediatr Res. 2004. PMID: 14711904

4

Bone marrow transplantation for severe combined immune deficiency.

Grunebaum E, Mazzolari E, Porta F, Dallera D, Atkinson A, Reid B, Notarangelo LD, Roifman CM. Grunebaum E, et al. Among authors: roifman cm. JAMA. 2006 Feb 1;295(5):508-18. doi: 10.1001/jama.295.5.508. JAMA. 2006. PMID: 16449616

5

Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient.

Dalal I, Grunebaum E, Cohen A, Roifman CM. Dalal I, et al. Among authors: roifman cm. Clin Genet. 2001 Jun;59(6):430-7. doi: 10.1034/j.1399-0004.2001.590608.x. Clin Genet. 2001. PMID: 11453975

6

A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia.

Roifman CM, Melamed I. Roifman CM, et al. Clin Genet. 2003 Jun;63(6):522-9. doi: 10.1034/j.1399-0004.2003.00033.x. Clin Genet. 2003. PMID: 12786759

7

Antibody deficiency, growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: a novel syndrome.

Roifman CM. Roifman CM. Clin Genet. 1999 Feb;55(2):103-9. doi: 10.1034/j.1399-0004.1999.550206.x. Clin Genet. 1999. PMID: 10189087

8

Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome.

Roifman CM, Chitayat D. Roifman CM, et al. Clin Genet. 2009 Nov;76(5):449-57. doi: 10.1111/j.1399-0004.2009.01239.x. Clin Genet. 2009. PMID: 19863561

9

Bone marrow transplantation for cartilage-hair-hypoplasia.

Guggenheim R, Somech R, Grunebaum E, Atkinson A, Roifman CM. Guggenheim R, et al. Among authors: roifman cm. Bone Marrow Transplant. 2006 Dec;38(11):751-6. doi: 10.1038/sj.bmt.1705520. Epub 2006 Oct 16. Bone Marrow Transplant. 2006. PMID: 17041608

10

Matched unrelated bone marrow transplant for T+ combined immunodeficiency.

Roifman CM, Somech R, Grunebaum E. Roifman CM, et al. Bone Marrow Transplant. 2008 Jun;41(11):947-52. doi: 10.1038/bmt.2008.11. Epub 2008 Feb 11. Bone Marrow Transplant. 2008. PMID: 18264145 Clinical Trial.

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