Cappa M - Search Results

1

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

Dentici ML, Barresi S, Nardella M, Bellacchio E, Alfieri P, Bruselles A, Pantaleoni F, Danieli A, Iarossi G, Cappa M, Bertini E, Tartaglia M, Zanni G. Dentici ML, et al. Among authors: cappa m. Gene. 2017 Sep 10;628:141-145. doi: 10.1016/j.gene.2017.07.017. Epub 2017 Jul 8. Gene. 2017. PMID: 28698159 Free PMC article.

2

A case of primary selective hypoaldosteronism carrying three mutations in the aldosterone synthase (Cyp11b2) gene.

Taranta A, Bizzarri C, Masotti A, Sciré G, Pampanini V, Cappa M. Taranta A, et al. Among authors: cappa m. Gene. 2012 May 25;500(1):22-7. doi: 10.1016/j.gene.2012.02.052. Epub 2012 Mar 24. Gene. 2012. PMID: 22465514

3

A novel heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED).

Fierabracci A, Bizzarri C, Palma A, Milillo A, Bellacchio E, Cappa M. Fierabracci A, et al. Among authors: cappa m. Gene. 2012 Dec 10;511(1):113-7. doi: 10.1016/j.gene.2012.09.029. Epub 2012 Sep 18. Gene. 2012. PMID: 23000069

4

Multiorgan autoimmunity in a Turner syndrome patient with partial monosomy 2q and trisomy 10p.

Grossi A, Palma A, Zanni G, Novelli A, Loddo S, Cappa M, Fierabracci A. Grossi A, et al. Among authors: cappa m. Gene. 2013 Feb 25;515(2):439-43. doi: 10.1016/j.gene.2012.12.007. Epub 2012 Dec 20. Gene. 2013. PMID: 23262341

5

Glutathione imbalance in patients with X-linked adrenoleukodystrophy.

Petrillo S, Piemonte F, Pastore A, Tozzi G, Aiello C, Pujol A, Cappa M, Bertini E. Petrillo S, et al. Among authors: cappa m. Mol Genet Metab. 2013 Aug;109(4):366-70. doi: 10.1016/j.ymgme.2013.05.009. Epub 2013 May 22. Mol Genet Metab. 2013. PMID: 23768953 Free PMC article.

6

Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.

Masotti A, Uva P, Davis-Keppen L, Basel-Vanagaite L, Cohen L, Pisaneschi E, Celluzzi A, Bencivenga P, Fang M, Tian M, Xu X, Cappa M, Dallapiccola B. Masotti A, et al. Among authors: cappa m. Am J Hum Genet. 2015 Feb 5;96(2):295-300. doi: 10.1016/j.ajhg.2014.12.011. Epub 2015 Jan 22. Am J Hum Genet. 2015. PMID: 25620207 Free PMC article.

7

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.

Zanni G, Kalscheuer VM, Friedrich A, Barresi S, Alfieri P, Di Capua M, Haas SA, Piccini G, Karl T, Klauck SM, Bellacchio E, Emma F, Cappa M, Bertini E, Breitenbach-Koller L. Zanni G, et al. Among authors: cappa m. Hum Mutat. 2015 Dec;36(12):1155-8. doi: 10.1002/humu.22860. Epub 2015 Sep 14. Hum Mutat. 2015. PMID: 26290468

8

A new multiplex method for the diagnosis of peroxisomal disorders allowing simultaneous determination of plasma very-long-chain fatty acids, phytanic, pristanic, docosahexaenoic and bile acids by high-performance liquid chromatography-atmospheric pressure chemical ionization-tandem mass spectrometry.

Semeraro M, Rizzo C, Boenzi S, Cappa M, Bertini E, Antonetti G, Dionisi-Vici C. Semeraro M, et al. Among authors: cappa m. Clin Chim Acta. 2016 Jul 1;458:159-64. doi: 10.1016/j.cca.2016.05.009. Epub 2016 May 14. Clin Chim Acta. 2016. PMID: 27189059

9

Next-Generation Sequencing Identifies Different Genetic Defects in 2 Patients with Primary Adrenal Insufficiency and Gonadotropin-Independent Precocious Puberty.

Guzzetti C, Bizzarri C, Pisaneschi E, Mucciolo M, Bellacchio E, Ibba A, Casula L, Novelli A, Loche S, Cappa M. Guzzetti C, et al. Among authors: cappa m. Horm Res Paediatr. 2018;90(3):203-211. doi: 10.1159/000492496. Epub 2018 Sep 4. Horm Res Paediatr. 2018. PMID: 30179867

10

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: cappa m. 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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

400 results

Search Page

Filters