Conte C - Search Results

1

Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.

Mannucci L, Luciano S, Salehi LB, Gigante L, Conte C, Longo G, Ferradini V, Piumelli N, Brancati F, Ruvolo G, Novelli G, Sangiuolo F. Mannucci L, et al. Among authors: conte c. Clin Chim Acta. 2020 Feb;501:154-164. doi: 10.1016/j.cca.2019.10.037. Epub 2019 Nov 12. Clin Chim Acta. 2020. PMID: 31730815

2

Mutational analysis of Peroxiredoxin IV: exclusion of a positional candidate for multinodular goitre.

Giardina E, Capon F, D'Apice MR, Amati F, Arturi F, Filetti S, Bonifazi E, Pucci S, Conte C, Novelli G. Giardina E, et al. Among authors: conte c. BMC Med Genet. 2002 Jul 23;3:5. doi: 10.1186/1471-2350-3-5. Epub 2002 Jul 23. BMC Med Genet. 2002. PMID: 12135533 Free PMC article.

3

Endocrine and neuropsychological assessment in a child with a novel mutation of thyroid hormone receptor: response to 12-month triiodothyroacetic acid (TRIAC) therapy.

Torre P, Bertoli M, Di Giovanni S, Scommegna S, Conte C, Novelli G, Cianfarani S. Torre P, et al. Among authors: conte c. J Endocrinol Invest. 2005 Jul-Aug;28(7):657-62. doi: 10.1007/BF03347267. J Endocrinol Invest. 2005. PMID: 16218051

4

Screening of EDA1 gene in X-linked anhidrotic ectodermal dysplasia using DHPLC: identification of 14 novel mutations in Italian patients.

Conte C, Gambardella S, Bulli C, Rinaldi F, Di Marino D, Falconi M, Bramanti P, Desideri A, Novelli G. Conte C, et al. Genet Test. 2008 Sep;12(3):437-42. doi: 10.1089/gte.2008.0020. Genet Test. 2008. PMID: 18666859

5

Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene.

Conte C, D'Apice MR, Botta A, Sangiuolo F, Novelli G. Conte C, et al. Genet Test Mol Biomarkers. 2009 Feb;13(1):127-31. doi: 10.1089/gtmb.2008.0092. Genet Test Mol Biomarkers. 2009. PMID: 19309286

6

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome.

Conte C, D'Apice MR, Rinaldi F, Gambardella S, Sangiuolo F, Novelli G. Conte C, et al. BMC Med Genet. 2011 Sep 27;12:125. doi: 10.1186/1471-2350-12-125. BMC Med Genet. 2011. PMID: 21951868 Free PMC article.

7

Breast cancer in West Africa: molecular analysis of BRCA genes in early-onset breast cancer patients in Burkina Faso.

Biancolella M, Ouédraogo NLM, Zongo N, Zohoncon TM, Testa B, Rizzacasa B, Latini A, Conte C, Compaore TR, Ouedraogo CMR, Traore SS, Simpore J, Novelli G. Biancolella M, et al. Among authors: conte c. Hum Genomics. 2021 Oct 30;15(1):65. doi: 10.1186/s40246-021-00365-w. Hum Genomics. 2021. PMID: 34717758 Free PMC article.

8

A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser-Winter syndrome.

Graziani L, Cinnirella G, Ferradini V, Conte C, Bascio FL, Bengala M, Sangiuolo F, Novelli G. Graziani L, et al. Among authors: conte c. Am J Med Genet A. 2023 Jun;191(6):1565-1569. doi: 10.1002/ajmg.a.63157. Epub 2023 Feb 21. Am J Med Genet A. 2023. PMID: 36810952

9

Implementing the Risk Stratification and Clinical Management of Breast Cancer Families Using Polygenic Risk Score Evaluation: A Pilot Study.

Rizzacasa B, Nicolì V, Tancredi C, Conte C, Salehi LB, Carriero ML, Longo G, Cirigliano V, Lopez LI, Palao B, Portarena I, Buonomo OC, Novelli G, Biancolella M. Rizzacasa B, et al. Among authors: conte c. J Pers Med. 2024 Sep 27;14(10):1034. doi: 10.3390/jpm14101034. J Pers Med. 2024. PMID: 39452541 Free PMC article.

10

WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly.

Graziani L, Carriero ML, Ferradini V, Conte C, Bengala M, Sangiuolo FC, Novelli G. Graziani L, et al. Among authors: conte c. Clin Genet. 2024 Nov 29. doi: 10.1111/cge.14665. Online ahead of print. Clin Genet. 2024. PMID: 39614649

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

555 results

Search Page

Filters