Vellodi A - Search Results

1

RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations.

Pangrazio A, Cassani B, Guerrini MM, Crockett JC, Marrella V, Zammataro L, Strina D, Schulz A, Schlack C, Kornak U, Mellis DJ, Duthie A, Helfrich MH, Durandy A, Moshous D, Vellodi A, Chiesa R, Veys P, Lo Iacono N, Vezzoni P, Fischer A, Villa A, Sobacchi C. Pangrazio A, et al. Among authors: vellodi a. J Bone Miner Res. 2012 Feb;27(2):342-51. doi: 10.1002/jbmr.559. J Bone Miner Res. 2012. PMID: 22271396 Free PMC article.

2

Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.

Guerrini MM, Sobacchi C, Cassani B, Abinun M, Kilic SS, Pangrazio A, Moratto D, Mazzolari E, Clayton-Smith J, Orchard P, Coxon FP, Helfrich MH, Crockett JC, Mellis D, Vellodi A, Tezcan I, Notarangelo LD, Rogers MJ, Vezzoni P, Villa A, Frattini A. Guerrini MM, et al. Among authors: vellodi a. Am J Hum Genet. 2008 Jul;83(1):64-76. doi: 10.1016/j.ajhg.2008.06.015. Am J Hum Genet. 2008. PMID: 18606301 Free PMC article.

3

SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.

Pangrazio A, Fasth A, Sbardellati A, Orchard PJ, Kasow KA, Raza J, Albayrak C, Albayrak D, Vanakker OM, De Moerloose B, Vellodi A, Notarangelo LD, Schlack C, Strauss G, Kühl JS, Caldana E, Lo Iacono N, Susani L, Kornak U, Schulz A, Vezzoni P, Villa A, Sobacchi C. Pangrazio A, et al. Among authors: vellodi a. J Bone Miner Res. 2013 May;28(5):1041-9. doi: 10.1002/jbmr.1849. J Bone Miner Res. 2013. PMID: 23280965 Free article.

4

Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis.

Pangrazio A, Puddu A, Oppo M, Valentini M, Zammataro L, Vellodi A, Gener B, Llano-Rivas I, Raza J, Atta I, Vezzoni P, Superti-Furga A, Villa A, Sobacchi C. Pangrazio A, et al. Among authors: vellodi a. Bone. 2014 Feb;59:122-6. doi: 10.1016/j.bone.2013.11.014. Epub 2013 Nov 20. Bone. 2014. PMID: 24269275 Free PMC article.

5

Study of the nonresorptive phenotype of osteoclast-like cells from patients with malignant osteopetrosis: a new approach to investigating pathogenesis.

Flanagan AM, Sarma U, Steward CG, Vellodi A, Horton MA. Flanagan AM, et al. Among authors: vellodi a. J Bone Miner Res. 2000 Feb;15(2):352-60. doi: 10.1359/jbmr.2000.15.2.352. J Bone Miner Res. 2000. PMID: 10703938 Free article.

6

Macrophage colony-stimulating factor and receptor activator NF-kappaB ligand fail to rescue osteoclast-poor human malignant infantile osteopetrosis in vitro.

Flanagan AM, Massey HM, Wilson C, Vellodi A, Horton MA, Steward CG. Flanagan AM, et al. Among authors: vellodi a. Bone. 2002 Jan;30(1):85-90. doi: 10.1016/s8756-3282(01)00656-1. Bone. 2002. PMID: 11792569

7

Autosomal recessive osteopetrosis: diagnosis, management, and outcome.

Wilson CJ, Vellodi A. Wilson CJ, et al. Among authors: vellodi a. Arch Dis Child. 2000 Nov;83(5):449-52. doi: 10.1136/adc.83.5.449. Arch Dis Child. 2000. PMID: 11040159 Free PMC article. Review. No abstract available.

8

Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group.

Gerritsen EJ, Vossen JM, Fasth A, Friedrich W, Morgan G, Padmos A, Vellodi A, Porras O, O'Meara A, Porta F, et al. Gerritsen EJ, et al. Among authors: vellodi a. J Pediatr. 1994 Dec;125(6 Pt 1):896-902. doi: 10.1016/s0022-3476(05)82004-9. J Pediatr. 1994. PMID: 7996361 Clinical Trial.

9

Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

Beesley CE, Young EP, Vellodi A, Winchester BG. Beesley CE, et al. Among authors: vellodi a. J Med Genet. 1998 Nov;35(11):910-4. doi: 10.1136/jmg.35.11.910. J Med Genet. 1998. PMID: 9832037 Free PMC article.

10

Autoantibodies after bone marrow transplantation in children with genetic disorders: relation to chronic graft-versus-host disease.

Lortan JE, Rochfort NC, el-Tumi M, Vellodi A. Lortan JE, et al. Among authors: vellodi a. Bone Marrow Transplant. 1992 May;9(5):325-30. Bone Marrow Transplant. 1992. PMID: 1617316

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