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 NCBI Filters

Results by year

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

Year Number of Results
2008 1
2009 2
2010 1
2012 2
2013 4
2014 3
2015 4
2016 3
2017 1
2018 4
2019 6
2020 3
2021 5
2022 1
2023 4
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

36 results

Results by year

Filters applied: . Clear all
Page 1
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.
Bullich G, Domingo-Gallego A, Vargas I, Ruiz P, Lorente-Grandoso L, Furlano M, Fraga G, Madrid Á, Ariceta G, Borregán M, Piñero-Fernández JA, Rodríguez-Peña L, Ballesta-Martínez MJ, Llano-Rivas I, Meñica MA, Ballarín J, Torrents D, Torra R, Ars E. Bullich G, et al. Among authors: ballesta martinez mj. Kidney Int. 2018 Aug;94(2):363-371. doi: 10.1016/j.kint.2018.02.027. Epub 2018 May 22. Kidney Int. 2018. PMID: 29801666 Free article.
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.
Parra A, Rabin R, Pappas J, Pascual P, Cazalla M, Arias P, Gallego-Zazo N, Santana A, Arroyo I, Artigas M, Pachajoa H, Alanay Y, Akgun-Dogan O, Ruaud L, Couque N, Levy J, Porras-Hurtado GL, Santos-Simarro F, Ballesta-Martinez MJ, Guillén-Navarro E, Muñoz-Hernández H, Nevado J, Spanish OverGrowth Registry Initiative, Tenorio-Castano J, Lapunzina P. Parra A, et al. Among authors: ballesta martinez mj. Genes (Basel). 2023 May 29;14(6):1179. doi: 10.3390/genes14061179. Genes (Basel). 2023. PMID: 37372360 Free PMC article. Review.
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.
Díaz-González F, Parrón-Pajares M, Lucas-Castro E, Modamio-Høybjør S, Sentchordi-Montané L, Seidel V, Prieto P, Tarraso-Urios G, Codina-Sola M, Cueto-González AM, Ballesta-Martínez MJ, Santos-Simarro F, Sousa SB, Heath KE. Díaz-González F, et al. Among authors: ballesta martinez mj. Clin Genet. 2023 Jul;104(1):100-106. doi: 10.1111/cge.14351. Epub 2023 Apr 30. Clin Genet. 2023. PMID: 37121912 Review.
Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.
Ballesta-Martínez MJ, Pérez-Fernández V, López-González V, Sánchez-Soler MJ, Serrano-Antón AT, Rodríguez-Peña LI, Barreda-Sánchez M, Armengol-Dulcet L, Guillén-Navarro E. Ballesta-Martínez MJ, et al. Orphanet J Rare Dis. 2023 Jul 21;18(1):201. doi: 10.1186/s13023-023-02809-z. Orphanet J Rare Dis. 2023. PMID: 37480025 Free PMC article. Review.
Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases.
Sánchez-Soler MJ, Serrano-Antón AT, López-González V, Ballesta-Martínez MJ, Guillén-Navarro E. Sánchez-Soler MJ, et al. Among authors: ballesta martinez mj. An Pediatr (Engl Ed). 2022 Mar;96(3):253-255. doi: 10.1016/j.anpede.2021.03.005. Epub 2022 Mar 16. An Pediatr (Engl Ed). 2022. PMID: 35305950 Free article. No abstract available.
Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients.
Buendía-Martínez J, Barreda-Sánchez M, Rodríguez-Peña L, Ballesta-Martínez MJ, López-González V, Sánchez-Soler MJ, Serrano-Antón AT, Pérez-Tomás ME, Gil-Ferrer R, Avilés-Plaza F, Glover-López G, Carazo-Díaz C, Guillén-Navarro E. Buendía-Martínez J, et al. Among authors: ballesta martinez mj. Orphanet J Rare Dis. 2021 Feb 27;16(1):106. doi: 10.1186/s13023-021-01742-3. Orphanet J Rare Dis. 2021. PMID: 33639982 Free PMC article.
A new seipin-associated neurodegenerative syndrome.
Guillén-Navarro E, Sánchez-Iglesias S, Domingo-Jiménez R, Victoria B, Ruiz-Riquelme A, Rábano A, Loidi L, Beiras A, González-Méndez B, Ramos A, López-González V, Ballesta-Martínez MJ, Garrido-Pumar M, Aguiar P, Ruibal A, Requena JR, Araújo-Vilar D. Guillén-Navarro E, et al. Among authors: ballesta martinez mj. J Med Genet. 2013 Jun;50(6):401-9. doi: 10.1136/jmedgenet-2013-101525. Epub 2013 Apr 6. J Med Genet. 2013. PMID: 23564749
Further refinement of COL4A1 and COL4A2 related cortical malformations.
Cavallin M, Mine M, Philbert M, Boddaert N, Lepage JM, Coste T, Lopez-Gonzalez V, Sanchez-Soler MJ, Ballesta-Martínez MJ, Remerand G, Pasquier L, Guët A, Chelly J, Lascelles K, Prieto-Morin C, Kossorotoff M, Tournier Lasserve E, Bahi-Buisson N. Cavallin M, et al. Among authors: ballesta martinez mj. Eur J Med Genet. 2018 Dec;61(12):765-772. doi: 10.1016/j.ejmg.2018.10.004. Epub 2018 Oct 11. Eur J Med Genet. 2018. PMID: 30315939
Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.
de la Morena-Barrio ME, Ballesta-Martínez MJ, López-Gálvez R, Antón AI, López-González V, Martínez-Ribot L, Padilla J, Miñano A, García-Algar O, Del Campo M, Corral J, Guillén-Navarro E, Vicente V. de la Morena-Barrio ME, et al. Among authors: ballesta martinez mj. Pediatr Res. 2018 Jan;83(1-1):119-127. doi: 10.1038/pr.2017.201. Epub 2017 Sep 20. Pediatr Res. 2018. PMID: 28820871
[Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases].
Sánchez-Soler MJ, Serrano-Antón AT, López-González V, Ballesta-Martínez MJ, Guillén-Navarro E. Sánchez-Soler MJ, et al. Among authors: ballesta martinez mj. An Pediatr (Engl Ed). 2021 May 29:S1695-4033(21)00165-X. doi: 10.1016/j.anpedi.2021.03.010. Online ahead of print. An Pediatr (Engl Ed). 2021. PMID: 34074617 Spanish. No abstract available.
36 results