Concolino P - Search Results

1

Genes and Pseudogenes: Complexity of the RCCX Locus and Disease.

Carrozza C, Foca L, De Paolis E, Concolino P. Carrozza C, et al. Among authors: concolino p. Front Endocrinol (Lausanne). 2021 Jul 30;12:709758. doi: 10.3389/fendo.2021.709758. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34394006 Free PMC article. Review.

2

Linkage between I172N mutation, a marker of 21-hydroxylase deficiency, and a single nucleotide polymorphism in Int6 of CYP21B gene: a genetic study of Sardinian family.

Concolino P, Satta MA, Santonocito C, Carrozza C, Rocchetti S, Ameglio F, Giardina E, Zuppi C, Capoluongo E. Concolino P, et al. Clin Chim Acta. 2006 Feb;364(1-2):298-302. doi: 10.1016/j.cca.2005.07.020. Epub 2005 Sep 19. Clin Chim Acta. 2006. PMID: 16171792

3

A case of patient affected by hirsutism carrying the P482S CYP21 gene mutation associated with loss of heterozygosity (LOH).

Concolino P, Carrozza C, Minucci A, Santonocito C, Ameglio F, Zuppi C, Capoluongo E. Concolino P, et al. Clin Chim Acta. 2006 Aug;370(1-2):201-2. doi: 10.1016/j.cca.2006.01.013. Epub 2006 Feb 28. Clin Chim Acta. 2006. PMID: 16500637 No abstract available.

4

First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy.

Concolino P, Corsello S, Carrozza C, Minucci A, Santonocito C, Lovicu RM, Santini SA, Ameglio F, Zuppi C, Capoluongo E. Concolino P, et al. Clin Biochem. 2007 Dec;40(18):1435-6. doi: 10.1016/j.clinbiochem.2007.09.002. Epub 2007 Sep 26. Clin Biochem. 2007. PMID: 18028896

5

Novel human pathological mutations. Gene Symbol: CYP21A2. Disease: Non-classic 21-hydroxylase deficiency.

Concolino P, Santonocito C, Minucci A, Carrozza C, Zuppi C, Capoluongo E, Giardina B. Concolino P, et al. Hum Genet. 2007 Dec;122(5):559. Hum Genet. 2007. PMID: 18386334 No abstract available.

6

Two novel CYP21A2 missense mutations in Italian patients with 21-hydroxylase deficiency: Identification and functional characterisation.

Concolino P, Vendittelli F, Mello E, Carelli Alinovi C, Minucci A, Carrozza C, Santini SA, Zuppi C, Capoluongo E. Concolino P, et al. IUBMB Life. 2009 Mar;61(3):229-35. doi: 10.1002/iub.147. IUBMB Life. 2009. PMID: 19152428 Free article.

7

Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia.

Concolino P, Vendittelli F, Mello E, Minucci A, Carrozza C, Rossodivita A, Giardina B, Zuppi C, Capoluongo E. Concolino P, et al. Clin Endocrinol (Oxf). 2009 Oct;71(4):470-6. doi: 10.1111/j.1365-2265.2008.03517.x. Epub 2008 Dec 17. Clin Endocrinol (Oxf). 2009. PMID: 19170707

8

Gene symbol: CYP21A2. Disease: Adrenal hyperplasia.

Capoluongo E, Concolino P, Carrozza C, Santonocito C, Zuppi C. Capoluongo E, et al. Among authors: concolino p. Hum Genet. 2008 Jun;123(5):550. Hum Genet. 2008. PMID: 20960642 No abstract available.

9

High Resolution Melting Analysis is Very Useful to Identify BRCA1 c.4964_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood and Buccal Swab DNA.

Minucci A, De Bonis M, De Paolis E, Gentile L, Santonocito C, Concolino P, Mignone F, Capoluongo E. Minucci A, et al. Among authors: concolino p. Mol Diagn Ther. 2017 Apr;21(2):217-223. doi: 10.1007/s40291-017-0262-3. Mol Diagn Ther. 2017. PMID: 28161869

10

Erratum to: High Resolution Melting Analysis is Very Useful to Identify BRCA1 c.4964_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood and Buccal Swab DNA.

Minucci A, De Bonis M, De Paolis E, Gentile L, Santonocito C, Concolino P, Mignone F, Capoluongo E. Minucci A, et al. Among authors: concolino p. Mol Diagn Ther. 2017 Apr;21(2):233. doi: 10.1007/s40291-017-0273-0. Mol Diagn Ther. 2017. PMID: 28266003 No abstract available.

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