Cappa M - Search Results

1

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.

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

Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency.

Bizzarri C, Pisaneschi E, Mucciolo M, Pedicelli S, Galeazzi D, Novelli A, Cappa M. Bizzarri C, et al. Among authors: cappa m. Ital J Pediatr. 2017 Jun 20;43(1):57. doi: 10.1186/s13052-017-0371-y. Ital J Pediatr. 2017. PMID: 28637490 Free PMC article.

4

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.

5

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

6

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

7

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.

Niceta M, Dentici ML, Ciolfi A, Marini R, Barresi S, Lepri FR, Novelli A, Bertini E, Cappa M, Digilio MC, Dallapiccola B, Tartaglia M. Niceta M, et al. Among authors: cappa m. BMC Pediatr. 2020 Mar 12;20(1):120. doi: 10.1186/s12887-020-2019-0. BMC Pediatr. 2020. PMID: 32164589 Free PMC article. Review.

8

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

9

Mutations in the NHEJ component XRCC4 cause primordial dwarfism.

Murray JE, van der Burg M, IJspeert H, Carroll P, Wu Q, Ochi T, Leitch A, Miller ES, Kysela B, Jawad A, Bottani A, Brancati F, Cappa M, Cormier-Daire V, Deshpande C, Faqeih EA, Graham GE, Ranza E, Blundell TL, Jackson AP, Stewart GS, Bicknell LS. Murray JE, et al. Among authors: cappa m. Am J Hum Genet. 2015 Mar 5;96(3):412-24. doi: 10.1016/j.ajhg.2015.01.013. Epub 2015 Feb 26. Am J Hum Genet. 2015. PMID: 25728776 Free PMC article.

10

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

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

389 results

Search Page