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Items: 13

1.

The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks.

Baldo C, Casareto L, Renieri A, Merla G, Garavaglia B, Goldwurm S, Pegoraro E, Moggio M, Mora M, Politano L, Sangiorgi L, Mazzotti R, Viotti V, Meloni I, Pellico MT, Barzaghi C, Wang CM, Monaco L, Filocamo M.

Orphanet J Rare Dis. 2016 Oct 24;11(1):142.

2.

Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat?

Bozzola M, Gertosio C, Gnoli M, Baronio F, Pedrini E, Meazza C, Sangiorgi L.

Ital J Pediatr. 2015 Aug 4;41:53. doi: 10.1186/s13052-015-0162-2.

3.

The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis.

Sgariglia F, Pedrini E, Bradfield JP, Bhatti TR, D'Adamo P, Dormans JP, Gunawardena AT, Hakonarson H, Hecht JT, Sangiorgi L, Pacifici M, Enomoto-Iwamoto M, Grant SF.

Bone. 2015 Mar;72:123-7. doi: 10.1016/j.bone.2014.11.024. Epub 2014 Dec 9.

4.

In vitro biosafety profile evaluation of multipotent mesenchymal stem cells derived from the bone marrow of sarcoma patients.

Lucarelli E, Bellotti C, Mantelli M, Avanzini MA, Maccario R, Novara F, Arrigo G, Zuffardi O, Zuntini M, Pandolfi M, Sangiorgi L, Lisini D, Donati D, Duchi S.

J Transl Med. 2014 Apr 9;12:95. doi: 10.1186/1479-5876-12-95.

5.

Child abuse and osteogenesis imperfecta: how can they be still misdiagnosed? A case report.

D'Eufemia P, Palombaro M, Lodato V, Zambrano A, Celli M, Persiani P, De Bari MP, Sangiorgi L.

Clin Cases Miner Bone Metab. 2012 Sep;9(3):195-7. Epub 2012 Dec 20.

6.

Ebstein's anomaly in a child with osteogenesis imperfecta type I.

D'Eufemia P, Celli M, Versacci P, Zambrano A, Lodato V, Persiani P, Sangiorgi L.

Clin Cases Miner Bone Metab. 2011 May;8(2):50-1.

7.

Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.

Swinnen FK, Coucke PJ, De Paepe AM, Symoens S, Malfait F, Gentile FV, Sangiorgi L, D'Eufemia P, Celli M, Garretsen TJ, Cremers CW, Dhooge IJ, De Leenheer EM.

Orphanet J Rare Dis. 2011 Dec 29;6:88. doi: 10.1186/1750-1172-6-88.

8.

Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.

Pansuriya TC, van Eijk R, d'Adamo P, van Ruler MA, Kuijjer ML, Oosting J, Cleton-Jansen AM, van Oosterwijk JG, Verbeke SL, Meijer D, van Wezel T, Nord KH, Sangiorgi L, Toker B, Liegl-Atzwanger B, San-Julian M, Sciot R, Limaye N, Kindblom LG, Daugaard S, Godfraind C, Boon LM, Vikkula M, Kurek KC, Szuhai K, French PJ, Bovée JV.

Nat Genet. 2011 Nov 6;43(12):1256-61. doi: 10.1038/ng.1004.

9.

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonafé L, Superti-Furga A, Ikegawa S, Cormier-Daire V, Bovée JV, Pansuriya TC, de Sousa SB, Savarirayan R, Andreucci E, Vikkula M, Garavelli L, Pottinger C, Ogino T, Sakai A, Regazzoni BM, Wuyts W, Sangiorgi L, Pedrini E, Zhu M, Kozakewich HP, Kasser JR, Seidman JG, Kurek KC, Warman ML.

PLoS Genet. 2011 Apr;7(4):e1002050. doi: 10.1371/journal.pgen.1002050. Epub 2011 Apr 14.

10.

Genome-wide analysis of Ollier disease: Is it all in the genes?

Pansuriya TC, Oosting J, Krenács T, Taminiau AH, Verdegaal SH, Sangiorgi L, Sciot R, Hogendoorn PC, Szuhai K, Bovée JV.

Orphanet J Rare Dis. 2011 Jan 14;6:2. doi: 10.1186/1750-1172-6-2.

11.

Canine tumor cross-species genomics uncovers targets linked to osteosarcoma progression.

Paoloni M, Davis S, Lana S, Withrow S, Sangiorgi L, Picci P, Hewitt S, Triche T, Meltzer P, Khanna C.

BMC Genomics. 2009 Dec 23;10:625. doi: 10.1186/1471-2164-10-625.

12.

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

Hermanns P, Unger S, Rossi A, Perez-Aytes A, Cortina H, Bonafé L, Boccone L, Setzu V, Dutoit M, Sangiorgi L, Pecora F, Reicherter K, Nishimura G, Spranger J, Zabel B, Superti-Furga A.

Am J Hum Genet. 2008 Jun;82(6):1368-74. doi: 10.1016/j.ajhg.2008.05.006. Erratum in: Am J Hum Genet. 2008 Aug;83(2):293.

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