Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

834 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.
Napoli G, Panzironi N, Traversa A, Catalanotto C, Pace V, Petrizzelli F, Giovannetti A, Lazzari S, Cogoni C, Tartaglia M, Carella M, Mazza T, Pizzuti A, Parisi C, Caputo V. Napoli G, et al. Among authors: tartaglia m. Mol Neurobiol. 2022 Aug;59(8):4825-4838. doi: 10.1007/s12035-022-02886-4. Epub 2022 May 31. Mol Neurobiol. 2022. PMID: 35639255 Free PMC article.
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, Schirinzi A, Conti E, Zampino G, Battaglia A, Majore S, Rinaldi MM, Carella M, Marino B, Pizzuti A, Digilio MC, Tartaglia M, Dallapiccola B. De Luca A, et al. Among authors: tartaglia m. Am J Hum Genet. 2005 Dec;77(6):1092-101. doi: 10.1086/498454. Epub 2005 Oct 26. Am J Hum Genet. 2005. PMID: 16380919 Free PMC article.
Novel SMAD4 mutation causing Myhre syndrome.
Caputo V, Bocchinfuso G, Castori M, Traversa A, Pizzuti A, Stella L, Grammatico P, Tartaglia M. Caputo V, et al. Among authors: tartaglia m. Am J Med Genet A. 2014 Jul;164A(7):1835-40. doi: 10.1002/ajmg.a.36544. Epub 2014 Apr 8. Am J Med Genet A. 2014. PMID: 24715504
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
Niceta M, Stellacci E, Gripp KW, Zampino G, Kousi M, Anselmi M, Traversa A, Ciolfi A, Stabley D, Bruselles A, Caputo V, Cecchetti S, Prudente S, Fiorenza MT, Boitani C, Philip N, Niyazov D, Leoni C, Nakane T, Keppler-Noreuil K, Braddock SR, Gillessen-Kaesbach G, Palleschi A, Campeau PM, Lee BH, Pouponnot C, Stella L, Bocchinfuso G, Katsanis N, Sol-Church K, Tartaglia M. Niceta M, et al. Among authors: tartaglia m. Am J Hum Genet. 2015 May 7;96(5):816-25. doi: 10.1016/j.ajhg.2015.03.001. Epub 2015 Apr 9. Am J Hum Genet. 2015. PMID: 25865493 Free PMC article.
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
Kortüm F, Caputo V, Bauer CK, Stella L, Ciolfi A, Alawi M, Bocchinfuso G, Flex E, Paolacci S, Dentici ML, Grammatico P, Korenke GC, Leuzzi V, Mowat D, Nair LD, Nguyen TT, Thierry P, White SM, Dallapiccola B, Pizzuti A, Campeau PM, Tartaglia M, Kutsche K. Kortüm F, et al. Among authors: tartaglia m. Nat Genet. 2015 Jun;47(6):661-7. doi: 10.1038/ng.3282. Epub 2015 Apr 27. Nat Genet. 2015. PMID: 25915598
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs.
Di Giacopo R, Cianetti L, Caputo V, La Torraca I, Piemonte F, Ciolfi A, Petrucci S, Carta C, Mariotti P, Leuzzi V, Valente EM, D'Amico A, Bentivoglio A, Bertini E, Tartaglia M, Zampino G. Di Giacopo R, et al. Among authors: tartaglia m. J Neurol Sci. 2015 Sep 15;356(1-2):65-71. doi: 10.1016/j.jns.2015.05.021. Epub 2015 May 29. J Neurol Sci. 2015. PMID: 26143525
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
Chong JX, Caputo V, Phelps IG, Stella L, Worgan L, Dempsey JC, Nguyen A, Leuzzi V, Webster R, Pizzuti A, Marvin CT, Ishak GE, Ardern-Holmes S, Richmond Z; University of Washington Center for Mendelian Genomics; Bamshad MJ, Ortiz-Gonzalez XR, Tartaglia M, Chopra M, Doherty D. Chong JX, et al. Among authors: tartaglia m. Am J Hum Genet. 2016 Apr 7;98(4):772-81. doi: 10.1016/j.ajhg.2016.01.016. Epub 2016 Mar 31. Am J Hum Genet. 2016. PMID: 27040692 Free PMC article.
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
Giorgio E, Ciolfi A, Biamino E, Caputo V, Di Gregorio E, Belligni EF, Calcia A, Gaidolfi E, Bruselles A, Mancini C, Cavalieri S, Molinatto C, Cirillo Silengo M, Ferrero GB, Tartaglia M, Brusco A. Giorgio E, et al. Among authors: tartaglia m. Am J Med Genet A. 2016 Jul;170(7):1772-9. doi: 10.1002/ajmg.a.37649. Epub 2016 Apr 25. Am J Med Genet A. 2016. PMID: 27108886 Free article.
834 results