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CT or Invasive Coronary Angiography in Stable Chest Pain.
DISCHARGE Trial Group; Maurovich-Horvat P, Bosserdt M, Kofoed KF, Rieckmann N, Benedek T, Donnelly P, Rodriguez-Palomares J, Erglis A, Štěchovský C, Šakalyte G, Čemerlić Adić N, Gutberlet M, Dodd JD, Diez I, Davis G, Zimmermann E, Kępka C, Vidakovic R, Francone M, Ilnicka-Suckiel M, Plank F, Knuuti J, Faria R, Schröder S, Berry C, Saba L, Ruzsics B, Kubiak C, Gutierrez-Ibarluzea I, Schultz Hansen K, Müller-Nordhorn J, Merkely B, Knudsen AD, Benedek I, Orr C, Xavier Valente F, Zvaigzne L, Suchánek V, Zajančkauskiene L, Adić F, Woinke M, Hensey M, Lecumberri I, Thwaite E, Laule M, Kruk M, Neskovic AN, Mancone M, Kuśmierz D, Feuchtner G, Pietilä M, Gama Ribeiro V, Drosch T, Delles C, Matta G, Fisher M, Szilveszter B, Larsen L, Ratiu M, Kelly S, Garcia Del Blanco B, Rubio A, Drobni ZD, Jurlander B, Rodean I, Regan S, Cuéllar Calabria H, Boussoussou M, Engstrøm T, Hodas R, Napp AE, Haase R, Feger S, Serna-Higuita LM, Neumann K, Dreger H, Rief M, Wieske V, Estrella M, Martus P, Dewey M. DISCHARGE Trial Group, et al. N Engl J Med. 2022 Apr 28;386(17):1591-1602. doi: 10.1056/NEJMoa2200963. Epub 2022 Mar 4. N Engl J Med. 2022. PMID: 35240010 Clinical Trial.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Faivre L, … See abstract for full author list ➔ Radio FC, et al. Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16. Am J Hum Genet. 2021. PMID: 33596411 Free PMC article.
Mucosal model of immunization against human immunodeficiency virus type 1 with a chimeric influenza virus.
Muster T, Ferko B, Klima A, Purtscher M, Trkola A, Schulz P, Grassauer A, Engelhardt OG, García-Sástre A, Palese P, et al. Muster T, et al. J Virol. 1995 Nov;69(11):6678-86. doi: 10.1128/JVI.69.11.6678-6686.1995. J Virol. 1995. PMID: 7474077 Free PMC article.
Antisera elicited in mice by infection with this chimeric virus showed neutralizing activity against distantly related HIV-1 isolates (T. Muster, R. Guinea, A. Trkola, M. Purtscher, A. Klima, F. Steindl, P. ...
Antisera elicited in mice by infection with this chimeric virus showed neutralizing activity against distantly related HIV-1 isolates (T …
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G. Gokce-Samar Z, et al. Neurology. 2024 Jan 23;102(2):e207945. doi: 10.1212/WNL.0000000000207945. Epub 2023 Dec 22. Neurology. 2024. PMID: 38165337
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nashabat M, Nabavizadeh N, Saraçoğlu HP, Sarıbaş B, Avcı Ş, Börklü E, Beillard E, Yılmaz E, Uygur SE, Kayhan CK, Bosco L, Eren ZB, Steindl K, Richter MF, Bademci G, Rauch A, Fattahi Z, Valentino ML, Connolly AM, Bahr A, Viola L, Bergmann AK, Rocha ME, Peart L, Castro-Rojas DL, Bültmann E, Khan S, Giarrana ML, Teleanu RI, Gonzalez JM, Pini A, Schädlich IS, Vill K, Brugger M, Zuchner S, Pinto A, Donkervoort S, Bivona SA, Riza A; Undiagnosed Diseases Network; Streata I, Gläser D, Baquero-Montoya C, Garcia-Restrepo N, Kotzaeridou U, Brunet T, Epure DA, Bertoli-Avella A, Kariminejad A, Tekin M, von Hardenberg S, Bönnemann CG, Stettner GM, Zanni G, Kayserili H, Oflazer ZP, Escande-Beillard N. Nashabat M, et al. Nat Commun. 2024 Feb 27;15(1):1758. doi: 10.1038/s41467-024-45933-5. Nat Commun. 2024. PMID: 38413582 Free PMC article.
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
Snijders Blok L, Verseput J, Rots D, Venselaar H, Innes AM, Stumpel C, Õunap K, Reinson K, Seaby EG, McKee S, Burton B, Kim K, van Hagen JM, Waisfisz Q, Joset P, Steindl K, Rauch A, Li D, Zackai EH, Sheppard SE, Keena B, Hakonarson H, Roos A, Kohlschmidt N, Cereda A, Iascone M, Rebessi E, Kernohan KD, Campeau PM, Millan F, Taylor JA, Lochmüller H, Higgs MR, Goula A, Bernhard B, Velasco DJ, Schmanski AA, Stark Z, Gallacher L, Pais L, Marcogliese PC, Yamamoto S, Raun N, Jakub TE, Kramer JM, den Hoed J, Fisher SE, Brunner HG, Kleefstra T. Snijders Blok L, et al. HGG Adv. 2022 Nov 1;4(1):100157. doi: 10.1016/j.xhgg.2022.100157. eCollection 2023 Jan 12. HGG Adv. 2022. PMID: 36408368 Free PMC article.
Androgen Receptor is Expressed in Breast Cancer Brain Metastases.
Bergen ES, Berghoff AS, Steindl A, Rajky O, Mercea PA, Kiesel B, Tendl-Schulz K, Bago-Horvath Z, Exner R, Fitzal F, Dieckmann K, Widhalm G, Steger GG, Preusser M, Bartsch R. Bergen ES, et al. Appl Immunohistochem Mol Morphol. 2021 Nov-Dec 01;29(10):728-733. doi: 10.1097/PAI.0000000000000952. Appl Immunohistochem Mol Morphol. 2021. PMID: 34121071 Clinical Trial.
Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes.
Haug P, Koller S, Maggi J, Lang E, Feil S, Wlodarczyk A, Bähr L, Steindl K, Rohrbach M, Gerth-Kahlert C, Berger W. Haug P, et al. Genes (Basel). 2021 Jan 6;12(1):65. doi: 10.3390/genes12010065. Genes (Basel). 2021. PMID: 33418956 Free PMC article.
Coloboma and microphthalmia (C/M) are related congenital eye malformations, which can cause significant visual impairment. ...Our study highlights the significant genetic heterogeneity in C/M cohorts and emphasizes the diagnostic power of WES for the screening of pa …
Coloboma and microphthalmia (C/M) are related congenital eye malformations, which can cause significant visual impairment. ...Our stu …
Hypothyroidism correlates with favourable survival prognosis in patients with brain metastatic cancer.
Berghoff AS, Wippel C, Starzer AM, Ballarini N, Wolpert F, Bergen E, Wolf P, Steindl A, Widhalm G, Gatterbauer B, Marosi C, Dieckmann K, Bartsch R, Scherer T, Koenig F, Krebs M, Weller M, Preusser M. Berghoff AS, et al. Eur J Cancer. 2020 Aug;135:150-158. doi: 10.1016/j.ejca.2020.05.011. Epub 2020 Jun 27. Eur J Cancer. 2020. PMID: 32603949 Free article.
17 results