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719 results

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Page 1
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, Clapuyt P, Hammer F, Amor DJ, Irvine AD, Baselga E, Dompmartin A, Syed S, Martin-Santiago A, Ades L, Collins F, Smith J, Sandaradura S, Barrio VR, Burrows PE, Blei F, Cozzolino M, Brunetti-Pierri N, Vicente A, Abramowicz M, Désir J, Vilain C, Chung WK, Wilson A, Gardiner CA, Dwight Y, Lord DJ, Fishman L, Cytrynbaum C, Chamlin S, Ghali F, Gilaberte Y, Joss S, Boente Mdel C, Léauté-Labrèze C, Delrue MA, Bayliss S, Martorell L, González-Enseñat MA, Mazereeuw-Hautier J, O'Donnell B, Bessis D, Pyeritz RE, Salhi A, Tan OT, Wargon O, Mulliken JB, Vikkula M. Revencu N, et al. Among authors: cozzolino m. Hum Mutat. 2013 Dec;34(12):1632-41. doi: 10.1002/humu.22431. Epub 2013 Oct 10. Hum Mutat. 2013. PMID: 24038909
Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation.
Cozzolino M, Augello B, Carella M, Palumbo O, Tavazzi B, Amorini AM, Lazzarino G, Merla G, Brunetti-Pierri N. Cozzolino M, et al. Mol Genet Metab. 2011 Dec;104(4):706-7. doi: 10.1016/j.ymgme.2011.09.031. Epub 2011 Oct 1. Mol Genet Metab. 2011. PMID: 22019069 No abstract available.
An emerging phenotype of proximal 11q deletions.
Melis D, Genesio R, Cozzolino M, Del Giudice E, Mormile A, Imperati F, Ronga V, Della Casa R, Nitsch L, Andria G. Melis D, et al. Among authors: cozzolino m. Eur J Med Genet. 2010 Sep-Oct;53(5):340-3. doi: 10.1016/j.ejmg.2010.07.010. Epub 2010 Aug 3. Eur J Med Genet. 2010. PMID: 20688202
Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b.
Melis D, Pivonello R, Cozzolino M, Della Casa R, Balivo F, Del Puente A, Dionisi-Vici C, Cotugno G, Zuppaldi C, Rigoldi M, Parini R, Colao A, Andria G, Parenti G. Melis D, et al. Among authors: cozzolino m. Horm Res Paediatr. 2014;81(1):55-62. doi: 10.1159/000351022. Epub 2013 Dec 21. Horm Res Paediatr. 2014. PMID: 24401800
Neuropsychological tests at the Italian Centers for Cognitive Disorders and Dementias: results from a survey on 450 specialized services.
Vaccaro R, Lorenzini P, Giaquinto F, Matascioli F, Carnevale G, Sciancalepore F, Gasparini M, Salvi E, Corbo M, Locuratolo N, Vanacore N, Bacigalupo I; Permanent Table of the National Dementia Plan Study Group; CCDDs Study Group. Vaccaro R, et al. Aging Clin Exp Res. 2024 Dec 20;37(1):1. doi: 10.1007/s40520-024-02869-6. Aging Clin Exp Res. 2024. PMID: 39704981 Free PMC article.
The First Lugano Workshop on the role of adenomyosis in ART.
Cozzolino M, Bulun S, De Ziegler D, Exacoustos C, Fatemi H, Garcia-Velasco JA, Horne A, Petraglia F, Santulli P, Somigliana E, Soorin K, Van den Bosch T, Viganò P, Humaidan P. Cozzolino M, et al. Reprod Biomed Online. 2024 Sep 12;50(1):104444. doi: 10.1016/j.rbmo.2024.104444. Online ahead of print. Reprod Biomed Online. 2024. PMID: 39672080 Review.
719 results