Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1974 1
1987 2
1994 1
1995 2
1996 5
1997 2
1998 3
1999 1
2000 1
2001 1
2005 3
2006 10
2007 7
2008 5
2009 1
2010 4
2011 4
2012 4
2013 3
2014 6
2015 9
2016 8
2017 9
2018 10
2019 8
2020 9
2021 14
2022 13
2023 15
2024 10
2025 10

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

164 results

Results by year

Filters applied: . Clear all
Page 1
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.
Dollfus H, Lilien MR, Maffei P, Verloes A, Muller J, Bacci GM, Cetiner M, van den Akker ELT, Grudzinska Pechhacker M, Testa F, Lacombe D, Stokman MF, Simonelli F, Gouronc A, Gavard A, van Haelst MM, Koenig J, Rossignol S, Bergmann C, Zacchia M, Leroy BP, Mosbah H, Van Eerde AM, Mekahli D, Servais A, Poitou C, Valverde D. Dollfus H, et al. Among authors: valverde d. Eur J Hum Genet. 2024 Nov;32(11):1347-1360. doi: 10.1038/s41431-024-01634-7. Epub 2024 Jul 31. Eur J Hum Genet. 2024. PMID: 39085583 Free PMC article. Review.
CPLANE Complex and Ciliopathies.
Martín-Salazar JE, Valverde D. Martín-Salazar JE, et al. Among authors: valverde d. Biomolecules. 2022 Jun 17;12(6):847. doi: 10.3390/biom12060847. Biomolecules. 2022. PMID: 35740972 Free PMC article. Review.
The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.
Vazquez N, Lee C, Valenzuela I, Phan TP, Derderian C, Chávez M, Mooney NA, Demeter J, Aziz-Zanjani MO, Cusco I, Codina M, Martínez-Gil N, Valverde D, Solarat C, Buel AL, Thauvin-Robinet C, Steichen E, Filges I, Joset P, De Geyter J, Vaidyanathan K, Gardner T, Toriyama M, Marcotte EM, Roberson EC, Jackson PK, Reiter JF, Tizzano EF, Wallingford JB. Vazquez N, et al. Among authors: valverde d. bioRxiv [Preprint]. 2024 Sep 26:2024.09.25.614984. doi: 10.1101/2024.09.25.614984. bioRxiv. 2024. Update in: Nat Commun. 2025 Jul 1;16(1):5701. doi: 10.1038/s41467-025-61005-8. PMID: 39386566 Free PMC article. Updated. Preprint.
Alström syndrome: current perspectives.
Álvarez-Satta M, Castro-Sánchez S, Valverde D. Álvarez-Satta M, et al. Among authors: valverde d. Appl Clin Genet. 2015 Jul 21;8:171-9. doi: 10.2147/TACG.S56612. eCollection 2015. Appl Clin Genet. 2015. PMID: 26229500 Free PMC article. Review.
The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.
Vazquez N, Lee C, Valenzuela I, Phan TP, Derderian C, Chávez M, Mooney NA, Demeter J, Aziz-Zanjani MO, Cusco I, Codina M, Martínez-Gil N, Valverde D, Solarat C, Buel AL, Thauvin-Robinet C, Steichen E, Filges I, Joset P, De Geyter J, Vaidyanathan K, Gardner TP, Toriyama M, Marcotte EM, Drew K, Roberson EC, Jackson PK, Reiter JF, Tizzano EF, Wallingford JB. Vazquez N, et al. Among authors: valverde d. Nat Commun. 2025 Jul 1;16(1):5701. doi: 10.1038/s41467-025-61005-8. Nat Commun. 2025. PMID: 40593758 Free PMC article.
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C. Perea-Romero I, et al. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 Free PMC article.
Consensus clinical management guidelines for Alström syndrome.
Tahani N, Maffei P, Dollfus H, Paisey R, Valverde D, Milan G, Han JC, Favaretto F, Madathil SC, Dawson C, Armstrong MJ, Warfield AT, Düzenli S, Francomano CA, Gunay-Aygun M, Dassie F, Marion V, Valenti M, Leeson-Beevers K, Chivers A, Steeds R, Barrett T, Geberhiwot T. Tahani N, et al. Among authors: valverde d. Orphanet J Rare Dis. 2020 Sep 21;15(1):253. doi: 10.1186/s13023-020-01468-8. Orphanet J Rare Dis. 2020. PMID: 32958032 Free PMC article.
Bardet-Biedl syndrome: A rare genetic disease.
Castro-Sánchez S, Álvarez-Satta M, Valverde D. Castro-Sánchez S, et al. Among authors: valverde d. J Pediatr Genet. 2013 Jun;2(2):77-83. doi: 10.3233/PGE-13051. J Pediatr Genet. 2013. PMID: 27625843 Free PMC article. Review.
164 results