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1973 1
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1989 3
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1992 3
1993 2
1994 4
1995 5
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2002 14
2003 9
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551 results

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Page 1
Healthcare recommendations for Joubert syndrome.
Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D. Bachmann-Gagescu R, et al. Among authors: hildebrandt f. Am J Med Genet A. 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399. Epub 2019 Nov 11. Am J Med Genet A. 2020. PMID: 31710777 Free PMC article. Review.
JS is a rare condition; therefore, many affected individuals may not have easy access to subspecialty providers familiar with JS (e.g., geneticists, neurologists, developmental pediatricians, ophthalmologists, nephrologists, hepatologists, psychiatrists, therapists, and ed …
JS is a rare condition; therefore, many affected individuals may not have easy access to subspecialty providers familiar with JS (e.g …
Genome Sequencing for Diagnosing Rare Diseases.
Wojcik MH, Lemire G, Berger E, Zaki MS, Wissmann M, Win W, White SM, Weisburd B, Wieczorek D, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Syrbe S, Strehlow V, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Radtke M, Popp D, Polster T, Platzer K, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Opperman H, Okur V, Oja KT, O'Leary M, O'Heir E, Morel CF, Merkenschlager A, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Hentschel J, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gburek-Augustat J, Gazda HT, Ganesh VS, Ganapathi M, Gallacher L, Fu JM, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bönnemann CG, Beggs AH, Baxter SM, Bartolomaeus T, Agrawal PB, Talkowski M, Austin-Tse C, Abou Jamra R, Rehm HL, O'Donnell-Luria A. Wojcik MH, et al. Among authors: hildebrandt f. N Engl J Med. 2024 Jun 6;390(21):1985-1997. doi: 10.1056/NEJMoa2314761. N Engl J Med. 2024. PMID: 38838312 Free PMC article.
Nephronophthisis: a pathological and genetic perspective.
Wolf MTF, Bonsib SM, Larsen CP, Hildebrandt F. Wolf MTF, et al. Among authors: hildebrandt f. Pediatr Nephrol. 2024 Jul;39(7):1977-2000. doi: 10.1007/s00467-023-06174-8. Epub 2023 Nov 6. Pediatr Nephrol. 2024. PMID: 37930417 Review.
If extrarenal symptoms are present in addition to NPHP, these disorders are defined as NPHP-related ciliopathies (NPHP-RC) and can involve the retina (e.g., with Senior-Loken syndrome), CNS (central nervous system) (e.g., with Joubert syndrome), liver (e.g., …
If extrarenal symptoms are present in addition to NPHP, these disorders are defined as NPHP-related ciliopathies (NPHP-RC) and can involve t …
Restriction of Intravenous Fluid in ICU Patients with Septic Shock.
Meyhoff TS, Hjortrup PB, Wetterslev J, Sivapalan P, Laake JH, Cronhjort M, Jakob SM, Cecconi M, Nalos M, Ostermann M, Malbrain M, Pettilä V, Møller MH, Kjær MN, Lange T, Overgaard-Steensen C, Brand BA, Winther-Olesen M, White JO, Quist L, Westergaard B, Jonsson AB, Hjortsø CJS, Meier N, Jensen TS, Engstrøm J, Nebrich L, Andersen-Ranberg NC, Jensen JV, Joseph NA, Poulsen LM, Herløv LS, Sølling CG, Pedersen SK, Knudsen KK, Straarup TS, Vang ML, Bundgaard H, Rasmussen BS, Aagaard SR, Hildebrandt T, Russell L, Bestle MH, Schønemann-Lund M, Brøchner AC, Elvander CF, Hoffmann SKL, Rasmussen ML, Martin YK, Friberg FF, Seter H, Aslam TN, Ådnøy S, Seidel P, Strand K, Johnstad B, Joelsson-Alm E, Christensen J, Ahlstedt C, Pfortmueller CA, Siegemund M, Greco M, Raděj J, Kříž M, Gould DW, Rowan KM, Mouncey PR, Perner A; CLASSIC Trial Group. Meyhoff TS, et al. Among authors: hildebrandt t. N Engl J Med. 2022 Jun 30;386(26):2459-2470. doi: 10.1056/NEJMoa2202707. Epub 2022 Jun 17. N Engl J Med. 2022. PMID: 35709019 Clinical Trial.
Haloperidol for the Treatment of Delirium in ICU Patients.
Andersen-Ranberg NC, Poulsen LM, Perner A, Wetterslev J, Estrup S, Hästbacka J, Morgan M, Citerio G, Caballero J, Lange T, Kjær MN, Ebdrup BH, Engstrøm J, Olsen MH, Oxenbøll Collet M, Mortensen CB, Weber SO, Andreasen AS, Bestle MH, Uslu B, Scharling Pedersen H, Gramstrup Nielsen L, Toft Boesen HC, Jensen JV, Nebrich L, La Cour K, Laigaard J, Haurum C, Olesen MW, Overgaard-Steensen C, Westergaard B, Brand B, Kingo Vesterlund G, Thornberg Kyhnauv P, Mikkelsen VS, Hyttel-Sørensen S, de Haas I, Aagaard SR, Nielsen LO, Eriksen AS, Rasmussen BS, Brix H, Hildebrandt T, Schønemann-Lund M, Fjeldsøe-Nielsen H, Kuivalainen AM, Mathiesen O; AID-ICU Trial Group. Andersen-Ranberg NC, et al. Among authors: hildebrandt t. N Engl J Med. 2022 Dec 29;387(26):2425-2435. doi: 10.1056/NEJMoa2211868. Epub 2022 Oct 26. N Engl J Med. 2022. PMID: 36286254 Clinical Trial.
Lower or Higher Oxygenation Targets for Acute Hypoxemic Respiratory Failure.
Schjørring OL, Klitgaard TL, Perner A, Wetterslev J, Lange T, Siegemund M, Bäcklund M, Keus F, Laake JH, Morgan M, Thormar KM, Rosborg SA, Bisgaard J, Erntgaard AES, Lynnerup AH, Pedersen RL, Crescioli E, Gielstrup TC, Behzadi MT, Poulsen LM, Estrup S, Laigaard JP, Andersen C, Mortensen CB, Brand BA, White J, Jarnvig IL, Møller MH, Quist L, Bestle MH, Schønemann-Lund M, Kamper MK, Hindborg M, Hollinger A, Gebhard CE, Zellweger N, Meyhoff CS, Hjort M, Bech LK, Grøfte T, Bundgaard H, Østergaard LHM, Thyø MA, Hildebrandt T, Uslu B, Sølling CG, Møller-Nielsen N, Brøchner AC, Borup M, Okkonen M, Dieperink W, Pedersen UG, Andreasen AS, Buus L, Aslam TN, Winding RR, Schefold JC, Thorup SB, Iversen SA, Engstrøm J, Kjær MN, Rasmussen BS; HOT-ICU Investigators. Schjørring OL, et al. Among authors: hildebrandt t. N Engl J Med. 2021 Apr 8;384(14):1301-1311. doi: 10.1056/NEJMoa2032510. Epub 2021 Jan 20. N Engl J Med. 2021. PMID: 33471452 Clinical Trial.
Defibrillator Implantation in Patients with Nonischemic Systolic Heart Failure.
Køber L, Thune JJ, Nielsen JC, Haarbo J, Videbæk L, Korup E, Jensen G, Hildebrandt P, Steffensen FH, Bruun NE, Eiskjær H, Brandes A, Thøgersen AM, Gustafsson F, Egstrup K, Videbæk R, Hassager C, Svendsen JH, Høfsten DE, Torp-Pedersen C, Pehrson S; DANISH Investigators. Køber L, et al. Among authors: hildebrandt p. N Engl J Med. 2016 Sep 29;375(13):1221-30. doi: 10.1056/NEJMoa1608029. Epub 2016 Aug 27. N Engl J Med. 2016. PMID: 27571011 Free article. Clinical Trial.
Genome-wide Association Study of Bladder Cancer Reveals New Biological and Translational Insights.
Koutros S, Kiemeney LA, Pal Choudhury P, Milne RL, Lopez de Maturana E, Ye Y, Joseph V, Florez-Vargas O, Dyrskjøt L, Figueroa J, Dutta D, Giles GG, Hildebrandt MAT, Offit K, Kogevinas M, Weiderpass E, McCullough ML, Freedman ND, Albanes D, Kooperberg C, Cortessis VK, Karagas MR, Johnson A, Schwenn MR, Baris D, Furberg H, Bajorin DF, Cussenot O, Cancel-Tassin G, Benhamou S, Kraft P, Porru S, Carta A, Bishop T, Southey MC, Matullo G, Fletcher T, Kumar R, Taylor JA, Lamy P, Prip F, Kalisz M, Weinstein SJ, Hengstler JG, Selinski S, Harland M, Teo M, Kiltie AE, Tardón A, Serra C, Carrato A, García-Closas R, Lloreta J, Schned A, Lenz P, Riboli E, Brennan P, Tjønneland A, Otto T, Ovsiannikov D, Volkert F, Vermeulen SH, Aben KK, Galesloot TE, Turman C, De Vivo I, Giovannucci E, Hunter DJ, Hohensee C, Hunt R, Patel AV, Huang WY, Thorleifsson G, Gago-Dominguez M, Amiano P, Golka K, Stern MC; UROMOL Consortium; Yan W, Liu J, Li SA, Katta S, Hutchinson A, Hicks B, Wheeler WA, Purdue MP, McGlynn KA, Kitahara CM, Haiman CA, Greene MH, Rafnar T, Chatterjee N, Chanock SJ, Wu X, Real FX, Silverman DT, Garcia-Closas M, Stefansson K, Prokunina-Olsson L, Malats N, Rothman N. Koutros S, et al. Among authors: hildebrandt mat. Eur Urol. 2023 Jul;84(1):127-137. doi: 10.1016/j.eururo.2023.04.020. Epub 2023 May 19. Eur Urol. 2023. PMID: 37210288 Free PMC article.
The PRS based on the 24 independent GWAS markers (odds ratio per standard deviation increase 1.49, 95% confidence interval 1.44-1.53), which also showed comparable results in two prospective cohorts (UK Biobank, PLCO trial), revealed an approximately fourfold difference in the li …
The PRS based on the 24 independent GWAS markers (odds ratio per standard deviation increase 1.49, 95% confidence interval 1.44-1.53), which …
Prevalence Estimates of Amyloid Abnormality Across the Alzheimer Disease Clinical Spectrum.
Jansen WJ, Janssen O, Tijms BM, Vos SJB, Ossenkoppele R, Visser PJ; Amyloid Biomarker Study Group; Aarsland D, Alcolea D, Altomare D, von Arnim C, Baiardi S, Baldeiras I, Barthel H, Bateman RJ, Van Berckel B, Binette AP, Blennow K, Boada M, Boecker H, Bottlaender M, den Braber A, Brooks DJ, Van Buchem MA, Camus V, Carill JM, Cerman J, Chen K, Chételat G, Chipi E, Cohen AD, Daniels A, Delarue M, Didic M, Drzezga A, Dubois B, Eckerström M, Ekblad LL, Engelborghs S, Epelbaum S, Fagan AM, Fan Y, Fladby T, Fleisher AS, Van der Flier WM, Förster S, Fortea J, Frederiksen KS, Freund-Levi Y, Frings L, Frisoni GB, Fröhlich L, Gabryelewicz T, Gertz HJ, Gill KD, Gkatzima O, Gómez-Tortosa E, Grimmer T, Guedj E, Habeck CG, Hampel H, Handels R, Hansson O, Hausner L, Hellwig S, Heneka MT, Herukka SK, Hildebrandt H, Hodges J, Hort J, Huang CC, Iriondo AJ, Itoh Y, Ivanoiu A, Jagust WJ, Jessen F, Johannsen P, Johnson KA, Kandimalla R, Kapaki EN, Kern S, Kilander L, Klimkowicz-Mrowiec A, Klunk WE, Koglin N, Kornhuber J, Kramberger MG, Kuo HC, Van Laere K, Landau SM, Landeau B, Lee DY, de Leon M, Leyton CE, Lin KJ, Lleó A, Löwenmark M, Madsen K, Maier W, Marcusson J, Marquié M, Martinez-Lage P,… See abstract for full author list ➔ Jansen WJ, et al. Among authors: hildebrandt h. JAMA Neurol. 2022 Mar 1;79(3):228-243. doi: 10.1001/jamaneurol.2021.5216. JAMA Neurol. 2022. PMID: 35099509
551 results