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Year Number of Results
1996 1
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1999 2
2002 1
2003 1
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2005 2
2007 5
2008 2
2009 2
2010 1
2011 5
2012 1
2013 2
2014 1
2015 3
2016 5
2017 2
2018 2
2019 1
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2021 5
2022 3
2023 5
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2025 8
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63 results

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Page 1
Maternal Genotype and Dietary Vitamin A Modify Aortic Arch Phenotypes in a Mouse Model of 22q11DS.
Amengual-Cladera E, Llull-Alberti MV, Ventayol-Guirado M, Jimenez-Barcelo JA, Rocha JE, Muncunill J, Hernandez-Rodriguez J, Medina-Chávez D, Lynton-Pons E, Sureda-Horrach P, Asensio VJ, Ruiz-Guerra L, Tubau A, Juan-Clar M, Bilio M, Morrow B, Vives-Bauzà C, Lania G, Illingworth E, Baldini A, Heine-Suñer AD. Amengual-Cladera E, et al. Among authors: heine suner ad. Int J Mol Sci. 2025 Oct 30;26(21):10595. doi: 10.3390/ijms262110595. Int J Mol Sci. 2025. PMID: 41226629 Free PMC article.
Revisiting the genetic epidemiology of ATTRv in Spain: the Balearic Islands as a high-prevalence founder focus.
Ventayol-Guirado M, Cisneros-Barroso E, Ribot-Sansó MA, González-Moreno J, Losada I, Ripoll-Vera T, Pons J, Fortuny E, Bosch T, Figuerola A, Descals C, Montala JC, Álvarez-Rubio J, Hernández-Rodríguez J, Lustre-Rodríguez J, Llull-Alberti MV, Jiménez-Barceló JA, Asensio-Landa VJ, Torres-Juan L, Martínez-López I, Buades-Reines J, Heine-Suñer D. Ventayol-Guirado M, et al. Among authors: heine suner d. Amyloid. 2025 Dec;32(4):383-386. doi: 10.1080/13506129.2025.2573227. Epub 2025 Oct 21. Amyloid. 2025. Update in: Amyloid. 2025 Dec;32(4):387-389. doi: 10.1080/13506129.2025.2577796. PMID: 41117200 Updated. No abstract available.
Genetic testing and evidence of a founder mutation in a hotspot for hereditary transthyretin amyloidosis.
Ventayol-Guirado M, Cisneros-Barroso E, Ribot-Sanso MA, Gonzalez-Moreno J, Losada I, Ripoll-Vera T, Pons J, Fortuny E, Bosch T, Figuerola A, Descals C, Montala JC, Alvarez-Rubio J, Hernandez-Rodriguez J, Lustre-Rodriguez J, Llull-Alberti MV, Jimenez-Barcelo JA, Asensio-Landa VJ, Torres-Juan L, Martinez-Lopez I, Buades-Reines J, Heine-Suñer D. Ventayol-Guirado M, et al. Among authors: heine suner d. Sci Rep. 2025 Aug 14;15(1):29773. doi: 10.1038/s41598-025-14707-4. Sci Rep. 2025. PMID: 40804349 Free PMC article.
Hypokalemic periodic paralysis associated with the atypical CACNA1S c.2690G>A (p.Arg897Lys) variant: description of 14 affected individuals from five families.
Barrachina-Esteve O, Ventayol-Guirado M, Asensio VJ, Heine-Suñer D, Corrales R, Vidal N, Ivanovski T, Arbós C, Agirre M, Montalà C, Ballabriga J, Valero A, Rosselló MM, Dávila P, Mestre M, Sánchez A, Deyá E, Legarda I, Espino A, Olivé M, Miralles F. Barrachina-Esteve O, et al. Among authors: heine suner d. Neuromuscul Disord. 2025 Aug;53:105425. doi: 10.1016/j.nmd.2025.105425. Epub 2025 Jul 2. Neuromuscul Disord. 2025. PMID: 40651170 Free article.
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.
Brooker SM, Novelli M, Coukos R, Prakash N, Kamel WA, Amengual-Gual M, Anheim M, Barcia G, Bardakjian T, Baur F, Berweck S, Bölsterli BK, Brugger M, Cassini T, Chatron N, Corner B, Dafsari HS, de Sainte Agathe JM, Ellis CA, Ezell KM, Foucard C, Frucht SJ, Garcia MC, Gill D, Guimier A, Hamid R, Heine-Suñer D, Herkenrath P, Hully M, Isaias IU, Januel L, Laurencin C, Laut T, Lavillaureix A, Lesca G, Lesieur-Sebellin M, Magistrelli L, Marelli C, Mefford HC, Mendelsohn BA, Mercimek-Andrews S, Miller C, Mohammad SS, Morgante F, Nandipati S, Opladen T, Padmanaban M, Pauni M, Pezzoli G, Piton A, Ramond F, Riboldi GM, Rougeot-Jung C, Santos-Simarro F, Scheffer IE, Serari N, Stahl CM, Kung AS, Tarongí Sanchez S, Thauvin-Robinet C, Till M, Tranchant C, Troedson C, Tropea TF, Vanakker O, Vega P, Wiese ML, Wieshmann U, Williams LJ, Wirth T, Zech M, Zempel H, Roze E, Leuzzi V, Galosi S, Fung VSC, Carvill G, Krainc D, Gerard E, Mencacci NE. Brooker SM, et al. Among authors: heine suner d. Ann Neurol. 2025 Sep;98(3):561-572. doi: 10.1002/ana.27272. Epub 2025 Jul 1. Ann Neurol. 2025. PMID: 40590478 Free PMC article.
First follicular fluid cf-mtDNA sequencing unveils ovarian stimulation-induced mutations impacting oocyte quality and IVF success.
Ventayol-Guirado M, Hernandez-Rodriguez J, Florit J, Llull-Alberti MV, Barragan R, Ferragut JF, Martorell J, Heine-Suñer D, Martinez I, Picornell A, Torres-Juan L, Peralta L. Ventayol-Guirado M, et al. Among authors: heine suner d. J Assist Reprod Genet. 2025 Jul;42(7):2375-2386. doi: 10.1007/s10815-025-03511-8. Epub 2025 May 22. J Assist Reprod Genet. 2025. PMID: 40405035
Atypical noncontiguous TSC2/PKD1 gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome.
Ventayol-Guirado M, Torres L, Asensio-Landa V, Pérez-Granero Á, Madrid MI, Hernandez-Rodriguez J, Llull-Alberti MV, Lumbreras J, Escribà S, Pons M, Roldan J, Martínez-López I, Heine-Suñer D, Santos-Simarro F. Ventayol-Guirado M, et al. Among authors: heine suner d. Am J Med Genet A. 2024 Dec;194(12):e63830. doi: 10.1002/ajmg.a.63830. Epub 2024 Aug 2. Am J Med Genet A. 2024. PMID: 39095963
Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease.
Blanco R, Rico-Ramírez Y, Hermida-Ameijeiras Á, Abdullah IMS, Lau K, Alvarez-Rubio J, Fortuny E, Martínez-Monzonís A, Nowak A, Nordbeck P, Veras-Burgos C, Pons-Llinares J, Rossi E, Caimi-Martínez F, Bosch-Rovira T, Alamar-Cervera M, Ruiz-Pizarro V, Torres-Juan L, Heine-Suñer D, Ripoll-Vera T. Blanco R, et al. Among authors: heine suner d. Int J Mol Sci. 2024 Apr 12;25(8):4299. doi: 10.3390/ijms25084299. Int J Mol Sci. 2024. PMID: 38673884 Free PMC article.
63 results