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Page 1
Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families.
Igreja S, Chahal HS, King P, Bolger GB, Srirangalingam U, Guasti L, Chapple JP, Trivellin G, Gueorguiev M, Guegan K, Stals K, Khoo B, Kumar AV, Ellard S, Grossman AB, Korbonits M; International FIPA Consortium. Igreja S, et al. Among authors: stals k. Hum Mutat. 2010 Aug;31(8):950-60. doi: 10.1002/humu.21292. Hum Mutat. 2010. PMID: 20506337 Free PMC article.
Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects.
Gibb J, Wall E, Fields E, Seale A, Armstrong C, Bamber A, Daubeney P, Jacobs-Pearson M, Marton T, Stals K, Low K, Kaski JP, Spentzou G. Gibb J, et al. Among authors: stals k. J Med Genet. 2024 Mar 21;61(4):405-409. doi: 10.1136/jmg-2023-109493. J Med Genet. 2024. PMID: 38050058
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways.
Magrinelli F, Tesson C, Angelova PR, Salazar-Villacorta A, Rodriguez JA, Scardamaglia A, Chung BH, Jaconelli M, Vona B, Esteras N, Kwong AK, Courtin T, Maroofian R, Alavi S, Nirujogi R, Severino M, Lewis PA, Efthymiou S, O'Callaghan B, Buchert R, Sofan L, Lis P, Pinon C, Breedveld GJ, Chui MM, Murphy D, Pitz V, Makarious MB, Cassar M, Hassan BA, Iftikhar S, Rocca C, Bauer P, Tinazzi M, Svetel M, Samanci B, Hanağası HA, Bilgiç B, Obeso JA, Kurtis MM, Cogan G, Başak AN, Kiziltan G, Gül T, Yalçın G, Elibol B, Barišić N, Ng EW, Fan SS, Hershkovitz T, Weiss K, Raza Alvi J, Sultan T, Azmi Alkhawaja I, Froukh T, E Alrukban HA, Fauth C, Schatz UA, Zöggeler T, Zech M, Stals K, Varghese V, Gandhi S, Blauwendraat C, Hardy JA, Lesage S, Bonifati V, Haack TB, Bertoli-Avella AM, Steinfeld R, Alessi DR, Steller H, Brice A, Abramov AY, Bhatia KP, Houlden H. Magrinelli F, et al. Among authors: stals k. medRxiv [Preprint]. 2024 Jun 20:2024.06.19.24308302. doi: 10.1101/2024.06.19.24308302. medRxiv. 2024. PMID: 39148840 Free PMC article. Preprint.
AIP mutation in pituitary adenomas in the 18th century and today.
Chahal HS, Stals K, Unterländer M, Balding DJ, Thomas MG, Kumar AV, Besser GM, Atkinson AB, Morrison PJ, Howlett TA, Levy MJ, Orme SM, Akker SA, Abel RL, Grossman AB, Burger J, Ellard S, Korbonits M. Chahal HS, et al. Among authors: stals k. N Engl J Med. 2011 Jan 6;364(1):43-50. doi: 10.1056/NEJMoa1008020. N Engl J Med. 2011. PMID: 21208107 Free article.
Genetic analysis in a patient presenting with meningioma and familial isolated pituitary adenoma (FIPA) reveals selective involvement of the R81X mutation of the AIP gene in the pathogenesis of the pituitary tumor.
Guaraldi F, Corazzini V, Gallia GL, Grottoli S, Stals K, Dalantaeva N, Frohman LA, Korbonits M, Salvatori R. Guaraldi F, et al. Among authors: stals k. Pituitary. 2012 Dec;15 Suppl 1:S61-7. doi: 10.1007/s11102-012-0391-y. Pituitary. 2012. PMID: 22527616
Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.
Dénes J, Swords F, Rattenberry E, Stals K, Owens M, Cranston T, Xekouki P, Moran L, Kumar A, Wassif C, Fersht N, Baldeweg SE, Morris D, Lightman S, Agha A, Rees A, Grieve J, Powell M, Boguszewski CL, Dutta P, Thakker RV, Srirangalingam U, Thompson CJ, Druce M, Higham C, Davis J, Eeles R, Stevenson M, O'Sullivan B, Taniere P, Skordilis K, Gabrovska P, Barlier A, Webb SM, Aulinas A, Drake WM, Bevan JS, Preda C, Dalantaeva N, Ribeiro-Oliveira A Jr, Garcia IT, Yordanova G, Iotova V, Evanson J, Grossman AB, Trouillas J, Ellard S, Stratakis CA, Maher ER, Roncaroli F, Korbonits M. Dénes J, et al. Among authors: stals k. J Clin Endocrinol Metab. 2015 Mar;100(3):E531-41. doi: 10.1210/jc.2014-3399. Epub 2014 Dec 12. J Clin Endocrinol Metab. 2015. PMID: 25494863 Free PMC article.
54 results