Concepedia

Carmelo Salpietro

CS

Statistics

Publications

78

Citations

3.2K

H-Index

34

Active since

2002

Affiliations

University of Messina(Current)

University of Catania

Istituti di Ricovero e Cura a Carattere Scientifico

University of Pavia

University of Campania "Luigi Vanvitelli"

Carmelo Salpietro is an author at University of Messina specializing in medicine, life sciences, and immunology.

ORCID

Publications per year

2002–2022

76

Publications

78

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli et al. · Nature Genetics · 2010 · 285 citations

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CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders

Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy et al. · The American Journal of Human Genetics · 2007 · 159 citations

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<i>AHI1</i> gene mutations cause specific forms of Joubert syndrome–related disorders

Enza Maria Valente, Francesco Brancati, Jennifer L. Silhavy et al. · Annals of Neurology · 2006 · 139 citations

, , +17

A homozygousGJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype

Antonio Pizzuti, Elisabetta Flex, Rita Mingarelli et al. · Human Mutation · 2004 · 107 citations · Full text

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Distinguishing the four genetic causes of jouberts syndrome–related disorders

Enza Maria Valente, Sarah Marsh, Marco Castori et al. · Annals of Neurology · 2005 · 107 citations · Full text

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