Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.

Bhat, Shreyas; Rousseau, Justine; Michaud, Coralie; Lourenço, Charles Marques; Stoler, Joan M; Louie, Raymond J; Clarkson, Lola K; Lichty, Angie; Koboldt, Daniel C; Reshmi, Shalini C; Sisodiya, Sanjay M; Hoytema van Konijnenburg, Eva M M; Koop, Klaas; van Hasselt, Peter M; Démurger, Florence; Dubourg, Christèle; Sullivan, Bonnie R; Hughes, Susan S; Thiffault, Isabelle; Tremblay, Elisabeth Simard; Accogli, Andrea; Srour, Myriam; Blunck, Rikard; Campeau, Philippe M.

Am J Hum Genet ; 111(4): 761-777, 2024 Apr 04.

Artigo em Inglês | MEDLINE | ID: mdl-38503299

2.

Macrocephaly and developmental delay caused by missense variants in RAB5C.

Koop, Klaas; Yuan, Weimin; Tessadori, Federico; Rodriguez-Polanco, Wilmer R; Grubbs, Jeremy; Zhang, Bo; Osmond, Matt; Graham, Gail; Sawyer, Sarah; Conboy, Erin; Vetrini, Francesco; Treat, Kayla; Ploski, Rafal; Pienkowski, Victor Murcia; Klosowska, Anna; Fieg, Elizabeth; Krier, Joel; Mallebranche, Coralie; Alban, Ziegler; Aldinger, Kimberly A; Ritter, Deborah; Macnamara, Ellen; Sullivan, Bonnie; Herriges, John; Alaimo, Joseph T; Helbig, Catherine; Ellis, Colin A; van Eyk, Clare; Gecz, Jozef; Farrugia, Daniel; Osei-Owusu, Ikeoluwa; Adès, Lesley; van den Boogaard, Marie-Jose; Fuchs, Sabine; Bakker, Jeroen; Duran, Karen; Dawson, Zachary D; Lindsey, Anika; Huang, Huiyan; Baldridge, Dustin; Silverman, Gary A; Grant, Barth D; Raizen, David; van Haaften, Gijs; Pak, Stephen C; Rehmann, Holger; Schedl, Tim; van Hasselt, Peter.

Hum Mol Genet ; 32(21): 3063-3077, 2023 10 17.

Artigo em Inglês | MEDLINE | ID: mdl-37552066

3.

Increased dynamin expression precedes proteinuria in glomerular disease.

Khalil, Ramzi; Koop, Klaas; Kreutz, Reinhold; Spaink, Herman P; Hogendoorn, Pancras Cw; Bruijn, Jan A; Baelde, Hans J.

J Pathol ; 247(2): 177-185, 2019 02.

Artigo em Inglês | MEDLINE | ID: mdl-30350425

4.

Rhabdomyolysis, encephalopathy, epilepsy and cardiac arrhythmia.

Toeback, Jonas; de Pagter, Mirjam; Exalto, Lieza; Koop, Klaas; Van der Heijden, Joris.

Pract Neurol ; 23(4): 356-359, 2023 08.

Artigo em Inglês | MEDLINE | ID: mdl-37116950

5.

A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone.

Dijkstra, Allysa M; Evers-van Vliet, Kimber; Heiner-Fokkema, M Rebecca; Bodewes, Frank A J A; Bos, Dennis K; Zsiros, József; van Aerde, Koen J; Koop, Klaas; van Spronsen, Francjan J; Lubout, Charlotte M A.

Int J Neonatal Screen ; 9(4)2023 Dec 04.

Artigo em Inglês | MEDLINE | ID: mdl-38132825

6.

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.

Veldman, Abigail; Kiewiet, M B Gea; Westra, Dineke; Bosch, Annet M; Brands, Marion M G; de Coo, René I F M; Derks, Terry G J; Fuchs, Sabine A; van den Hout, Johanna M P; Huidekoper, Hidde H; Kluijtmans, Leo A J; Koop, Klaas; Lubout, Charlotte M A; Mulder, Margaretha F; Panis, Bianca; Rubio-Gozalbo, M Estela; de Sain-van der Velden, Monique G; Schaefers, Jaqueline; Schreuder, Andrea B; Visser, Gepke; Wevers, Ron A; Wijburg, Frits A; Heiner-Fokkema, M Rebecca; van Spronsen, Francjan J.

Int J Neonatal Screen ; 9(4)2023 Oct 11.

Artigo em Inglês | MEDLINE | ID: mdl-37873847

7.

Case 34-2012: Severe pain, bleeding, and shock during labor.

Koop, Klaas; van Roosmalen, Jos; van den Akker, Thomas.

N Engl J Med ; 368(8): 777-8, 2013 02 21.

Artigo em Inglês | MEDLINE | ID: mdl-23425184

8.

Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.

van de Stadt, Stephanie I W; Mooyer, Petra A W; Dijkstra, Inge M E; Dekker, Conny J M; Vats, Divya; Vera, Moin; Ruzhnikov, Maura R Z; van Haren, Keith; Tang, Nelson; Koop, Klaas; Willemsen, Michel A; Hui, Joannie; Vaz, Frédéric M; Ebberink, Merel S; Engelen, Marc; Kemp, Stephan; Ferdinandusse, Sacha.

Genes (Basel) ; 12(12)2021 11 30.

Artigo em Inglês | MEDLINE | ID: mdl-34946879

9.

Local dystrophin restoration with antisense oligonucleotide PRO051.

van Deutekom, Judith C; Janson, Anneke A; Ginjaar, Ieke B; Frankhuizen, Wendy S; Aartsma-Rus, Annemieke; Bremmer-Bout, Mattie; den Dunnen, Johan T; Koop, Klaas; van der Kooi, Anneke J; Goemans, Nathalie M; de Kimpe, Sjef J; Ekhart, Peter F; Venneker, Edna H; Platenburg, Gerard J; Verschuuren, Jan J; van Ommen, Gert-Jan B.

N Engl J Med ; 357(26): 2677-86, 2007 Dec 27.

Artigo em Inglês | MEDLINE | ID: mdl-18160687

10.

Selective loss of podoplanin protein expression accompanies proteinuria and precedes alterations in podocyte morphology in a spontaneous proteinuric rat model.

Koop, Klaas; Eikmans, Michael; Wehland, Markus; Baelde, Hans; Ijpelaar, Daphne; Kreutz, Reinhold; Kawachi, Hiroshi; Kerjaschki, Dontscho; de Heer, Emile; Bruijn, Jan Anthonie.

Am J Pathol ; 173(2): 315-26, 2008 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-18599604

11.

Cat scratches or flea feces?

Koop, Klaas; Kruis, Sjoerd; Poelman, Esther; Eskes, Frank.

J Pediatr ; 164(1): 210-210.e1, 2014 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-24094762

12.

Genetic defect of the sodium-dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency.

Schwantje, Marit; de Sain-van der Velden, Monique; Jans, Judith; van Gassen, Koen; Dorrepaal, Charlotte; Koop, Klaas; Visser, Gepke.

JIMD Rep ; 48(1): 11-14, 2019 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-31392107

13.

Subcutaneous emphysema of the neck after colectomy.

Koop, Klaas; Akkermans, Femke L; Mennema-Vastenhout, T H; Schouten, W R; van Dam, Jet H; Collet, Gerard J.

Int J Colorectal Dis ; 25(7): 917-8, 2010 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-20012968

14.

[Fever with a rash caused by chronic meningococcemia]. / Koorts en huiduitslag door chronische meningokokkemie.

de Jonge, Jeroen Christiaan; Koop, Klaas; Bousema, Mente; Nuboer, Roos.

Ned Tijdschr Geneeskd ; 159: A8103, 2015.

Artigo em Holandês | MEDLINE | ID: mdl-25850448

15.

A labial lump. Routine activities were impeded by an extraordinary tumor.

Koop, Klaas; Van Dijk, Martin; Van Huisseling, Hans.

Am J Obstet Gynecol ; 201(6): 628.e1, 2009 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-19664749

16.

[A neonate with peculiarly arranged skin abnormalities]. / Een baby met bijzonder gerangschikte huidafwijkingen.

Koop, Klaas; Baerends, Eva P; Sanders, C J G Koos.

Ned Tijdschr Geneeskd ; 156(48): A5150, 2012.

Artigo em Holandês | MEDLINE | ID: mdl-23191969

17.

Pellagra: a non-communicable disease of poverty.

Frank, Gerard-Peter G M; Voorend, Daniëlle M; Chamdula, Andrew; van Oosterhout, Joep J; Koop, Klaas.

Trop Doct ; 42(3): 182-4, 2012 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-22785547

18.

C4d staining in renal allograft biopsies with early acute rejection and subsequent clinical outcome.

Botermans, Johanna M; de Kort, Hanneke; Eikmans, Michael; Koop, Klaas; Baelde, Hans J; Mallat, Marko J K; Zuidwijk, Kim; van Kooten, Cees; de Heer, Emile; Goemaere, Natascha N T; Claas, Frans H J; Bruijn, Jan A; de Fijter, Johan W; Bajema, Ingeborg M; van Groningen, Marian C.

Clin J Am Soc Nephrol ; 6(5): 1207-13, 2011 May.

Artigo em Inglês | MEDLINE | ID: mdl-21527651

19.

Hair-on-end.

Mnapo, Bridget; Shields, Michael; Koop, Klaas.

Am J Trop Med Hyg ; 88(4): 607, 2013 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-23553223

20.

A case of recurrent toxin-mediated perineal erythema.

El Bouch, Rachida; Reubsaet, Pauline; Koop, Klaas; Jansen, Jurgen.

Arch Dis Child ; 98(10): 776, 2013 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-23960098

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