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36th International Symposium on Intensive Care and Emergency Medicine : Brussels, Belgium. 15-18 March 2016.
Bateman RM, Sharpe MD, Jagger JE, Ellis CG, Solé-Violán J, López-Rodríguez M, Herrera-Ramos E, Ruíz-Hernández J, Borderías L, Horcajada J, González-Quevedo N, Rajas O, Briones M, Rodríguez de Castro F, Rodríguez Gallego C, Esen F, Orhun G, Ergin Ozcan P, Senturk E, Ugur Yilmaz C, Orhan N, Arican N, Kaya M, Kucukerden M, Giris M, Akcan U, Bilgic Gazioglu S, Tuzun E, Riff R, Naamani O, Douvdevani A, Takegawa R, Yoshida H, Hirose T, Yamamoto N, Hagiya H, Ojima M, Akeda Y, Tasaki O, Tomono K, Shimazu T, Ono S, Kubo T, Suda S, Ueno T, Ikeda T, Hirose T, Ogura H, Takahashi H, Ojima M, Kang J, Nakamura Y, Kojima T, Shimazu T, Ikeda T, Suda S, Izutani Y, Ueno T, Ono S, Taniguchi T, O M, Dinter C, Lotz J, Eilers B, Wissmann C, Lott R, Meili MM, Schuetz PS, Hawa H, Sharshir M, Aburageila M, Salahuddin N, Chantziara V, Georgiou S, Tsimogianni A, Alexandropoulos P, Vassi A, Lagiou F, Valta M, Micha G, Chinou E, Michaloudis G, Kodaira A, Ikeda T, Ono S, Ueno T, Suda S, Izutani Y, Imaizumi H, De la Torre-Prados MV, Garcia-De la Torre A, Enguix-Armada A, Puerto-Morlan A, Perez-Valero V, Garcia-Alcantara A, Bolton N, Dudziak J, Bonney S, Tridente A, Nee P, Nicolaes G, Wiewel M, Schultz M, Wildhag… See abstract for full author list ➔ Bateman RM, et al. Crit Care. 2016 Apr 20;20(Suppl 2):94. doi: 10.1186/s13054-016-1208-6. Crit Care. 2016. PMID: 27885969 Free PMC article.
Ono, T. Kubo, S. Suda, T. Ueno, T. Ikeda P007 - Serial change of c1 inhibitor in patients with sepsis - A prospective observational study T. ...V. De la Torre-Prados, A. Garcia-De la Torre, A. Enguix-Armada, A. ...
Ono, T. Kubo, S. Suda, T. Ueno, T. Ikeda P007 - Serial change of c1 inhibitor in patients with sepsis - A prospective o …
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter MC, Bertsche A, Vill K, Baumann M, Baumgartner M, Cordts I, Eisenkölbl A, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Horber V, Husain RA, Illsinger S, Jahnel J, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schwerin-Nagel A, Reihle C, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Trollmann R, Weiler M, Weiß C, Wiegand G, Wilichowski E, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Pechmann A, et al. Orphanet J Rare Dis. 2022 Oct 23;17(1):384. doi: 10.1186/s13023-022-02547-8. Orphanet J Rare Dis. 2022. PMID: 36274155 Free PMC article.
CERTL reduces C16 ceramide, amyloid-β levels, and inflammation in a model of Alzheimer's disease.
Crivelli SM, Luo Q, Stevens JAA, Giovagnoni C, van Kruining D, Bode G, den Hoedt S, Hobo B, Scheithauer AL, Walter J, Mulder MT, Exley C, Mold M, Mielke MM, De Vries HE, Wouters K, van den Hove DLA, Berkes D, Ledesma MD, Verhaagen J, Losen M, Bieberich E, Martinez-Martinez P. Crivelli SM, et al. Alzheimers Res Ther. 2021 Feb 17;13(1):45. doi: 10.1186/s13195-021-00780-0. Alzheimers Res Ther. 2021. PMID: 33597019 Free PMC article.
Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency.
Fliegauf M, Bryant VL, Frede N, Slade C, Woon ST, Lehnert K, Winzer S, Bulashevska A, Scerri T, Leung E, Jordan A, Keller B, de Vries E, Cao H, Yang F, Schäffer AA, Warnatz K, Browett P, Douglass J, Ameratunga RV, van der Meer JW, Grimbacher B. Fliegauf M, et al. Am J Hum Genet. 2015 Sep 3;97(3):389-403. doi: 10.1016/j.ajhg.2015.07.008. Epub 2015 Aug 13. Am J Hum Genet. 2015. PMID: 26279205 Free PMC article.
De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.
van den Akker WMR, Brummelman I, Martis LM, Timmermans RN, Pfundt R, Kleefstra T, Willemsen MH, Gerkes EH, Herkert JC, van Essen AJ, Rump P, Vansenne F, Terhal PA, van Haelst MM, Cristian I, Turner CE, Cho MT, Begtrup A, Willaert R, Fassi E, van Gassen KLI, Stegmann APA, de Vries BBA, Schuurs-Hoeijmakers JHM. van den Akker WMR, et al. Clin Genet. 2018 May;93(5):1000-1007. doi: 10.1111/cge.13225. Clin Genet. 2018. PMID: 29393965
De novo variants in the gene encoding cyclin-dependent kinase 13 (CDK13) have been associated with congenital heart defects and intellectual disability (ID). Here, we present the clinical assessment of 15 individuals and report novel de novo missense variants within …
De novo variants in the gene encoding cyclin-dependent kinase 13 (CDK13) have been associated with congenital heart defects and intel …
Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program.
Mikhaylova AV, McHugh CP, Polfus LM, Raffield LM, Boorgula MP, Blackwell TW, Brody JA, Broome J, Chami N, Chen MH, Conomos MP, Cox C, Curran JE, Daya M, Ekunwe L, Glahn DC, Heard-Costa N, Highland HM, Hobbs BD, Ilboudo Y, Jain D, Lange LA, Miller-Fleming TW, Min N, Moon JY, Preuss MH, Rosen J, Ryan K, Smith AV, Sun Q, Surendran P, de Vries PS, Walter K, Wang Z, Wheeler M, Yanek LR, Zhong X, Abecasis GR, Almasy L, Barnes KC, Beaty TH, Becker LC, Blangero J, Boerwinkle E, Butterworth AS, Chavan S, Cho MH, Choquet H, Correa A, Cox N, DeMeo DL, Faraday N, Fornage M, Gerszten RE, Hou L, Johnson AD, Jorgenson E, Kaplan R, Kooperberg C, Kundu K, Laurie CA, Lettre G, Lewis JP, Li B, Li Y, Lloyd-Jones DM, Loos RJF, Manichaikul A, Meyers DA, Mitchell BD, Morrison AC, Ngo D, Nickerson DA, Nongmaithem S, North KE, O'Connell JR, Ortega VE, Pankratz N, Perry JA, Psaty BM, Rich SS, Soranzo N, Rotter JI, Silverman EK, Smith NL, Tang H, Tracy RP, Thornton TA, Vasan RS, Zein J, Mathias RA; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Reiner AP, Auer PL. Mikhaylova AV, et al. Am J Hum Genet. 2021 Oct 7;108(10):1836-1851. doi: 10.1016/j.ajhg.2021.08.007. Epub 2021 Sep 27. Am J Hum Genet. 2021. PMID: 34582791 Free PMC article.
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC. Marchegiani S, et al. Am J Hum Genet. 2015 Jul 2;97(1):99-110. doi: 10.1016/j.ajhg.2015.05.017. Epub 2015 Jun 25. Am J Hum Genet. 2015. PMID: 26119818 Free PMC article.
To establish the genetic basis of AMS and BSS, we performed extensive clinical phenotyping, whole exome and candidate gene sequencing, and functional validations. We identified a recurrent de novo mutation in TWIST2 in seven independent AMS-affected families, as well as an …
To establish the genetic basis of AMS and BSS, we performed extensive clinical phenotyping, whole exome and candidate gene sequencing, and f …
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Kim JH, Shinde DN, Reijnders MRF, Hauser NS, Belmonte RL, Wilson GR, Bosch DGM, Bubulya PA, Shashi V, Petrovski S, Stone JK, Park EY, Veltman JA, Sinnema M, Stumpel CTRM, Draaisma JM, Nicolai J; University of Washington Center for Mendelian Genomics; Yntema HG, Lindstrom K, de Vries BBA, Jewett T, Santoro SL, Vogt J; Deciphering Developmental Disorders Study; Bachman KK, Seeley AH, Krokosky A, Turner C, Rohena L, Hempel M, Kortüm F, Lessel D, Neu A, Strom TM, Wieczorek D, Bramswig N, Laccone FA, Behunova J, Rehder H, Gordon CT, Rio M, Romana S, Tang S, El-Khechen D, Cho MT, McWalter K, Douglas G, Baskin B, Begtrup A, Funari T, Schoch K, Stegmann APA, Stevens SJC, Zhang DE, Traver D, Yao X, MacArthur DG, Brunner HG, Mancini GM, Myers RM, Owen LB, Lim ST, Stachura DL, Vissers LELM, Ahn EYE. Kim JH, et al. Am J Hum Genet. 2016 Sep 1;99(3):711-719. doi: 10.1016/j.ajhg.2016.06.029. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545680 Free PMC article.
However, detailed analyses conclusively confirming these variants, as well as the underlying molecular mechanisms explaining the diseases, are often lacking. Here, we report on an ID syndrome caused by de novo heterozygous loss-of-function (LoF) mutations in SON. The syndr …
However, detailed analyses conclusively confirming these variants, as well as the underlying molecular mechanisms explaining the diseases, a …
Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study.
McMullan DJ, Bonin M, Hehir-Kwa JY, de Vries BB, Dufke A, Rattenberry E, Steehouwer M, Moruz L, Pfundt R, de Leeuw N, Riess A, Altug-Teber O, Enders H, Singer S, Grasshoff U, Walter M, Walker JM, Lamb CV, Davison EV, Brueton L, Riess O, Veltman JA. McMullan DJ, et al. Hum Mutat. 2009 Jul;30(7):1082-92. doi: 10.1002/humu.21015. Hum Mutat. 2009. PMID: 19388127
This method, although revolutionizing cytogenetics, is still limited to the detection of rare de novo copy number variants (CNVs). Genome-wide single nucleotide polymorphism (SNP) microarrays provide high-resolution genotype as well as CNV information in a single experimen …
This method, although revolutionizing cytogenetics, is still limited to the detection of rare de novo copy number variants (CNVs). Ge …