Asteggiano CG - Search Results

1

Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls.

Asteggiano CG, Papazoglu M, Bistué Millón MB, Peralta MF, Azar NB, Spécola NS, Guelbert N, Suldrup NS, Pereyra M, Dodelson de Kremer R. Asteggiano CG, et al. Pediatr Res. 2018 Dec;84(6):837-841. doi: 10.1038/s41390-018-0206-6. Epub 2018 Oct 18. Pediatr Res. 2018. PMID: 30397276

2

A novel nonsense mutation of the EXT1 gene in an Argentinian patient with multiple hereditary exostoses: a case report.

Delgado MA, Sarrión P, Azar N, Zecchini L, Robledo HH, Segura F, Balcells S, Grinberg D, Dodelson de Kremer R, Asteggiano CG. Delgado MA, et al. Among authors: asteggiano cg. J Bone Joint Surg Am. 2012 Jun 6;94(11):e76. doi: 10.2106/JBJS.J.01920. J Bone Joint Surg Am. 2012. PMID: 22637216 No abstract available.

3

Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?

Millón MB, Delgado MA, Azar NB, Guelbert N, Sturiale L, Garozzo D, Matthijs G, Jaeken J, de Kremer RD, Asteggiano CG. Millón MB, et al. Among authors: asteggiano cg. JIMD Rep. 2011;1:65-72. doi: 10.1007/8904_2011_18. Epub 2011 Jun 22. JIMD Rep. 2011. PMID: 23430830 Free PMC article.

4

Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis.

Papazoglu GM, Cubilla M, Pereyra M, de Kremer RD, Pérez B, Sturiale L, Asteggiano CG. Papazoglu GM, et al. Among authors: asteggiano cg. Glycoconj J. 2021 Apr;38(2):191-200. doi: 10.1007/s10719-021-09976-w. Epub 2021 Mar 1. Glycoconj J. 2021. PMID: 33644825 Free article.

5

COG1-congenital disorders of glycosylation: Milder presentation and review.

Salazar M, Miyake N, Silva S, Solar B, Papazoglu GM, Asteggiano CG, Matsumoto N. Salazar M, et al. Among authors: asteggiano cg. Clin Genet. 2021 Sep;100(3):318-323. doi: 10.1111/cge.13980. Epub 2021 May 13. Clin Genet. 2021. PMID: 33960418 Review.

6

Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.

Cozar M, Urreizti R, Vilarinho L, Grosso C, Dodelson de Kremer R, Asteggiano CG, Dalmau J, García AM, Vilaseca MA, Grinberg D, Balcells S. Cozar M, et al. Among authors: asteggiano cg. Hum Mutat. 2011 Jul;32(7):835-42. doi: 10.1002/humu.21514. Epub 2011 Jun 7. Hum Mutat. 2011. PMID: 21520339 Free article.

7

MAN1B1 deficiency: an unexpected CDG-II.

Rymen D, Peanne R, Millón MB, Race V, Sturiale L, Garozzo D, Mills P, Clayton P, Asteggiano CG, Quelhas D, Cansu A, Martins E, Nassogne MC, Gonçalves-Rocha M, Topaloglu H, Jaeken J, Foulquier F, Matthijs G. Rymen D, et al. Among authors: asteggiano cg. PLoS Genet. 2013;9(12):e1003989. doi: 10.1371/journal.pgen.1003989. Epub 2013 Dec 12. PLoS Genet. 2013. PMID: 24348268 Free PMC article.

8

Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients.

Caino S, Cubilla MA, Alba R, Obregón MG, Fano V, Gómez A, Zecchini L, Lapunzina P, Aza-Carmona M, Heath KE, Asteggiano CG. Caino S, et al. Among authors: asteggiano cg. Genes (Basel). 2022 Nov 7;13(11):2063. doi: 10.3390/genes13112063. Genes (Basel). 2022. PMID: 36360300 Free PMC article.

9

A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG.

Delgado MA, Martinez-Domenech G, Sarrión P, Urreizti R, Zecchini L, Robledo HH, Segura F, de Kremer RD, Balcells S, Grinberg D, Asteggiano CG. Delgado MA, et al. Among authors: asteggiano cg. Sci Rep. 2014 Sep 18;4:6407. doi: 10.1038/srep06407. Sci Rep. 2014. PMID: 25230886 Free PMC article.

10

Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.

Ng BG, Asteggiano CG, Kircher M, Buckingham KJ, Raymond K, Nickerson DA, Shendure J, Bamshad MJ; University of Washington Center for Mendelian Genomics; Ensslen M, Freeze HH. Ng BG, et al. Among authors: asteggiano cg. Am J Med Genet A. 2017 Nov;173(11):2906-2911. doi: 10.1002/ajmg.a.38412. Epub 2017 Aug 29. Am J Med Genet A. 2017. PMID: 28856833 Free PMC article.

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