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68 results

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Page 1
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumić M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ. Amor DJ, et al. Among authors: capolino r. Am J Hum Genet. 2019 May 2;104(5):914-924. doi: 10.1016/j.ajhg.2019.02.026. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982611 Free PMC article.
Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation.
de Billy E, Strocchio L, Cacchione A, Agolini E, Gnazzo M, Novelli A, De Vito R, Capolino R, Digilio MC, Caruso R, Mastronuzzi A, Locatelli F. de Billy E, et al. Among authors: capolino r. Am J Med Genet A. 2019 Jan;179(1):113-117. doi: 10.1002/ajmg.a.60674. Epub 2018 Dec 20. Am J Med Genet A. 2019. PMID: 30569626
Defining language disorders in children and adolescents with Noonan Syndrome.
Lazzaro G, Caciolo C, Menghini D, Cumbo F, Digilio MC, Capolino R, Zampino G, Tartaglia M, Vicari S, Alfieri P. Lazzaro G, et al. Among authors: capolino r. Mol Genet Genomic Med. 2020 Apr;8(4):e1069. doi: 10.1002/mgg3.1069. Epub 2020 Feb 14. Mol Genet Genomic Med. 2020. PMID: 32059087 Free PMC article.
KBG syndrome: Common and uncommon clinical features based on 31 new patients.
Gnazzo M, Lepri FR, Dentici ML, Capolino R, Pisaneschi E, Agolini E, Rinelli M, Alesi V, Versacci P, Genovese S, Cesario C, Sinibaldi L, Baban A, Bartuli A, Marino B, Cappa M, Dallapiccola B, Novelli A, Digilio MC. Gnazzo M, et al. Among authors: capolino r. Am J Med Genet A. 2020 May;182(5):1073-1083. doi: 10.1002/ajmg.a.61524. Epub 2020 Mar 3. Am J Med Genet A. 2020. PMID: 32124548
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
Dentici ML, Maglione V, Agolini E, Catena G, Capolino R, Lanari V, Novelli A, Sinibaldi L, Vecchio D, Gonfiantini MV, Macchiaiolo M, Digilio MC, Dallapiccola B, Bartuli A. Dentici ML, et al. Among authors: capolino r. Am J Med Genet A. 2020 Aug;182(8):1977-1984. doi: 10.1002/ajmg.a.61719. Epub 2020 Jun 23. Am J Med Genet A. 2020. PMID: 32573066
Molecular Characterization of Medulloblastoma in a Patient with Neurofibromatosis Type 1: Case Report and Literature Review.
Ranalli M, Boni A, Caroleo AM, Del Baldo G, Rinelli M, Agolini E, Rossi S, Miele E, Colafati GS, Boccuto L, Alessi I, De Ioris MA, Cacchione A, Capolino R, Carai A, Vennarini S, Mastronuzzi A. Ranalli M, et al. Among authors: capolino r. Diagnostics (Basel). 2021 Apr 2;11(4):647. doi: 10.3390/diagnostics11040647. Diagnostics (Basel). 2021. PMID: 33918520 Free PMC article.
Atrioventricular canal defect in patients with RASopathies.
Digilio MC, Romana Lepri F, Dentici ML, Henderson A, Baban A, Roberti MC, Capolino R, Versacci P, Surace C, Angioni A, Tartaglia M, Marino B, Dallapiccola B. Digilio MC, et al. Among authors: capolino r. Eur J Hum Genet. 2013 Feb;21(2):200-4. doi: 10.1038/ejhg.2012.145. Epub 2012 Jul 11. Eur J Hum Genet. 2013. PMID: 22781091 Free PMC article.
Hypoplastic left heart syndrome and 21q22.3 deletion.
Ciocca L, Digilio MC, Lombardo A, D'Elia G, Baban A, Capolino R, Petrocchi S, Russo S, Sirleto P, Roberti MC, Marino B, Angioni A, Dallapiccola B. Ciocca L, et al. Among authors: capolino r. Am J Med Genet A. 2015 Mar;167A(3):579-86. doi: 10.1002/ajmg.a.36914. Epub 2015 Feb 7. Am J Med Genet A. 2015. PMID: 25663264 Review.
Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome.
Radio FC, Digilio MC, Capolino R, Dentici ML, Unolt M, Alesi V, Novelli A, Marino B, Dallapiccola B. Radio FC, et al. Among authors: capolino r. Am J Med Genet A. 2016 Mar;170(3):661-4. doi: 10.1002/ajmg.a.37503. Epub 2015 Dec 21. Am J Med Genet A. 2016. PMID: 26686844
68 results