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TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Bowles B, Ferrer A, Nishimura CJ, Pinto E Vairo F, Rey T, Leheup B, Sullivan J, Schoch K, Stong N, Agolini E, Cocciadiferro D, Williams A, Cummings A, Loddo S, Genovese S, Roadhouse C, McWalter K; Undiagnosed Diseases Network; Wentzensen IM, Li C, Babovic-Vuksanovic D, Lanpher BC, Dentici ML, Ankala A, Hamm JA, Dallapiccola B, Radio FC, Shashi V, Gérard B, Bloch-Zupan A, Smith RJ, Klee EW. Bowles B, et al. Among authors: dentici ml. Am J Med Genet A. 2021 Aug;185(8):2417-2433. doi: 10.1002/ajmg.a.62347. Epub 2021 May 27. Am J Med Genet A. 2021. PMID: 34042254 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: dentici ml. 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.
Kabuki syndrome: clinical and molecular diagnosis in the first year of life.
Dentici ML, Di Pede A, Lepri FR, Gnazzo M, Lombardi MH, Auriti C, Petrocchi S, Pisaneschi E, Bellacchio E, Capolino R, Braguglia A, Angioni A, Dotta A, Digilio MC, Dallapiccola B. Dentici ML, et al. Arch Dis Child. 2015 Feb;100(2):158-64. doi: 10.1136/archdischild-2013-305858. Epub 2014 Oct 3. Arch Dis Child. 2015. PMID: 25281733 Review.
CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon.
Pisaneschi E, Sirleto P, Lepri FR, Genovese S, Dentici ML, Petrocchi S, Angioni A, Digilio MC, Dallapiccola B. Pisaneschi E, et al. Among authors: dentici ml. BMC Med Genet. 2015 Sep 3;16:78. doi: 10.1186/s12881-015-0225-7. BMC Med Genet. 2015. PMID: 26334530 Free PMC article.
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: dentici ml. 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
101 results