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1974 1
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2003 3
2004 4
2006 2
2007 2
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2011 4
2013 2
2014 1
2015 3
2016 5
2017 4
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2022 7
2023 5
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59 results

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Page 1
Genetics of intellectual disability in consanguineous families.
Hu H, Kahrizi K, Musante L, Fattahi Z, Herwig R, Hosseini M, Oppitz C, Abedini SS, Suckow V, Larti F, Beheshtian M, Lipkowitz B, Akhtarkhavari T, Mehvari S, Otto S, Mohseni M, Arzhangi S, Jamali P, Mojahedi F, Taghdiri M, Papari E, Soltani Banavandi MJ, Akbari S, Tonekaboni SH, Dehghani H, Ebrahimpour MR, Bader I, Davarnia B, Cohen M, Khodaei H, Albrecht B, Azimi S, Zirn B, Bastami M, Wieczorek D, Bahrami G, Keleman K, Vahid LN, Tzschach A, Gärtner J, Gillessen-Kaesbach G, Varaghchi JR, Timmermann B, Pourfatemi F, Jankhah A, Chen W, Nikuei P, Kalscheuer VM, Oladnabi M, Wienker TF, Ropers HH, Najmabadi H. Hu H, et al. Among authors: bader i. Mol Psychiatry. 2019 Jul;24(7):1027-1039. doi: 10.1038/s41380-017-0012-2. Epub 2018 Jan 4. Mol Psychiatry. 2019. PMID: 29302074
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study; Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. Snijders Blok L, et al. Among authors: bader i. Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. Nat Commun. 2018. PMID: 30397230 Free PMC article.
Clinical Effect of Early vs Late Amyloid Positron Emission Tomography in Memory Clinic Patients: The AMYPAD-DPMS Randomized Clinical Trial.
Altomare D, Barkhof F, Caprioglio C, Collij LE, Scheltens P, Lopes Alves I, Bouwman F, Berkhof J, van Maurik IS, Garibotto V, Moro C, Delrieu J, Payoux P, Saint-Aubert L, Hitzel A, Molinuevo JL, Grau-Rivera O, Gispert JD, Drzezga A, Jessen F, Zeyen P, Nordberg A, Savitcheva I, Jelic V, Walker Z, Edison P, Demonet JF, Gismondi R, Farrar G, Stephens AW, Frisoni GB; Amyloid Imaging to Prevent Alzheimer’s Disease (AMYPAD) Consortium. Altomare D, et al. JAMA Neurol. 2023 Jun 1;80(6):548-557. doi: 10.1001/jamaneurol.2023.0997. JAMA Neurol. 2023. PMID: 37155177 Free PMC article. Clinical Trial.
The amyloid imaging for the prevention of Alzheimer's disease consortium: A European collaboration with global impact.
Collij LE, Farrar G, Valléz García D, Bader I, Shekari M, Lorenzini L, Pemberton H, Altomare D, Pla S, Loor M, Markiewicz P, Yaqub M, Buckley C, Frisoni GB, Nordberg A, Payoux P, Stephens A, Gismondi R, Visser PJ, Ford L, Schmidt M, Birck C, Georges J, Mett A, Walker Z, Boada M, Drzezga A, Vandenberghe R, Hanseeuw B, Jessen F, Schöll M, Ritchie C, Lopes Alves I, Gispert JD, Barkhof F. Collij LE, et al. Among authors: bader i. Front Neurol. 2023 Jan 20;13:1063598. doi: 10.3389/fneur.2022.1063598. eCollection 2022. Front Neurol. 2023. PMID: 36761917 Free PMC article. Review.
Recruitment of pre-dementia participants: main enrollment barriers in a longitudinal amyloid-PET study.
Bader I, Bader I, Lopes Alves I, Vállez García D, Vellas B, Dubois B, Boada M, Marquié M, Altomare D, Scheltens P, Vandenberghe R, Hanseeuw B, Schöll M, Frisoni GB, Jessen F, Nordberg A, Kivipelto M, Ritchie CW, Grau-Rivera O, Molinuevo JL, Ford L, Stephens A, Gismondi R, Gispert JD, Farrar G, Barkhof F, Visser PJ, Collij LE; AMYPAD consortium. Bader I, et al. Alzheimers Res Ther. 2023 Nov 2;15(1):189. doi: 10.1186/s13195-023-01332-4. Alzheimers Res Ther. 2023. PMID: 37919783 Free PMC article.
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Isidor B, Ebstein F, Hurst A, Vincent M, Bader I, Rudy NL, Cogne B, Mayr J, Brehm A, Bupp C, Warren K, Bacino CA, Gerard A, Ranells JD, Metcalfe KA, van Bever Y, Jiang YH, Mendelssohn BA, Cope H, Rosenfeld JA, Blackburn PR, Goodenberger ML, Kearney HM, Kennedy J, Scurr I, Szczaluba K, Ploski R, de Saint Martin A, Alembik Y, Piton A, Bruel AL, Thauvin-Robinet C, Strong A, Diderich KEM, Bourgeois D, Dahan K, Vignard V, Bonneau D, Colin E, Barth M, Camby C, Baujat G, Briceño I, Gómez A, Deb W, Conrad S, Besnard T, Bézieau S, Krüger E, Küry S, Stankiewicz P. Isidor B, et al. Among authors: bader i. Genet Med. 2022 Jan;24(1):179-191. doi: 10.1016/j.gim.2021.09.005. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906456 Free article.
Analysis of Psychological Symptoms Following Disclosure of Amyloid-Positron Emission Tomography Imaging Results to Adults With Subjective Cognitive Decline.
Caprioglio C, Ribaldi F, Visser LNC, Minguillon C, Collij LE, Grau-Rivera O, Zeyen P, Molinuevo JL, Gispert JD, Garibotto V, Moro C, Walker Z, Edison P, Demonet JF, Barkhof F, Scheltens P, Alves IL, Gismondi R, Farrar G, Stephens AW, Jessen F, Frisoni GB, Altomare D; AMYPAD consortium. Caprioglio C, et al. JAMA Netw Open. 2023 Jan 3;6(1):e2250921. doi: 10.1001/jamanetworkopen.2022.50921. JAMA Netw Open. 2023. PMID: 36637820 Free PMC article.
A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.
Bader I, Freilinger M, Landauer F, Waldmüller S, Mueller-Felber W, Rauscher C, Sperl W, Bittner RE, Schmidt WM, Mayr JA. Bader I, et al. Orphanet J Rare Dis. 2022 Jul 19;17(1):279. doi: 10.1186/s13023-022-02421-7. Orphanet J Rare Dis. 2022. PMID: 35854315 Free PMC article. Review.
CAD mutations and uridine-responsive epileptic encephalopathy.
Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, Coene KL, Bader I, Holzhacker M, Prokisch H, Venselaar H, Wevers RA, Distelmaier F, Polster T, Leiz S, Betzler C, Strom TM, Sperl W, Meitinger T, Wortmann SB, Haack TB. Koch J, et al. Among authors: bader i. Brain. 2017 Feb;140(2):279-286. doi: 10.1093/brain/aww300. Epub 2016 Dec 21. Brain. 2017. PMID: 28007989
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.
Zweier C, Rittinger O, Bader I, Berland S, Cole T, Degenhardt F, Di Donato N, Graul-Neumann L, Hoyer J, Lynch SA, Vlasak I, Wieczorek D. Zweier C, et al. Among authors: bader i. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):290-301. doi: 10.1002/ajmg.c.31408. Epub 2014 Aug 5. Am J Med Genet C Semin Med Genet. 2014. PMID: 25099957 Review.
59 results