Pesquisa | Biblioteca Virtual em Saúde

1.

High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.

González-Acosta, Maribel; Marín, Fátima; Puliafito, Benjamin; Bonifaci, Nuria; Fernández, Anna; Navarro, Matilde; Salvador, Hector; Balaguer, Francesc; Iglesias, Silvia; Velasco, Angela; Grau Garces, Elia; Moreno, Victor; Gonzalez-Granado, Luis Ignacio; Guerra-García, Pilar; Ayala, Rosa; Florkin, Benoît; Kratz, Christian; Ripperger, Tim; Rosenbaum, Thorsten; Januszkiewicz-Lewandowska, Danuta; Azizi, Amedeo A; Ragab, Iman; Nathrath, Michaela; Pander, Hans-Jürgen; Lobitz, Stephan; Suerink, Manon; Dahan, Karin; Imschweiler, Thomas; Demirsoy, Ugur; Brunet, Joan; Lázaro, Conxi; Rueda, Daniel; Wimmer, Katharina; Capellá, Gabriel; Pineda, Marta.

J Med Genet; 2019 Sep 07.

Artigo em Inglês | MEDLINE | ID: mdl-31494577

2.

A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.

Gallon, Richard; Mühlegger, Barbara; Wenzel, Sören-Sebastian; Sheth, Harsh; Hayes, Christine; Aretz, Stefan; Dahan, Karin; Foulkes, William; Kratz, Christian P; Ripperger, Tim; Azizi, Amedeo A; Baris Feldman, Hagit; Chong, Anne-Laure; Demirsoy, Ugur; Florkin, Benoît; Imschweiler, Thomas; Januszkiewicz-Lewandowska, Danuta; Lobitz, Stephan; Nathrath, Michaela; Pander, Hans-Jürgen; Perez-Alonso, Vanesa; Perne, Claudia; Ragab, Iman; Rosenbaum, Thorsten; Rueda, Daniel; Seidel, Markus G; Suerink, Manon; Taeubner, Julia; Zimmermann, Stefanie-Yvonne; Zschocke, Johannes; Borthwick, Gillian M; Burn, John; Jackson, Michael S; Santibanez-Koref, Mauro; Wimmer, Katharina.

Hum Mutat; 40(5): 649-655, 2019 05.

Artigo em Inglês | MEDLINE | ID: mdl-30740824

3.

Trametinib Induces Neurofibroma Shrinkage and Enables Surgery.

Vaassen, Pia; Dürr, Nikola; Röhrig, Andreas; Willing, Rainer; Rosenbaum, Thorsten.

Neuropediatrics; 50(5): 300-303, 2019 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-31141829

4.

A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.

Weissbach, Susann; Reinert, Marie-Christine; Altmüller, Janine; Krätzner, Ralph; Thiele, Holger; Rosenbaum, Thorsten; Nürnberg, Peter; Gärtner, Jutta.

Am J Med Genet A; 173(10): 2803-2807, 2017 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-28817236

5.

Nevus Anemicus As an Additional Diagnostic Marker of Neurofibromatosis Type 1 in Childhood.

Vaassen, Pia; Rosenbaum, Thorsten.

Neuropediatrics; 47(3): 190-3, 2016 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-27019377

6.

Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5' untranslated region, exon and intron 1.

Harder, Anja; Titze, Sabrina; Herbst, Lena; Harder, Thomas; Guse, Katrin; Tinschert, Sigrid; Kaufmann, Dieter; Rosenbaum, Thorsten; Mautner, Victor Felix; Windt, Elke; Wahlländer-Danek, Ute; Wimmer, Katharina; Mundlos, Stefan; Peters, Hartmut.

Twin Res Hum Genet; 13(6): 582-94, 2010 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-21142935

7.

Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots.

Chiu, Celine; Loth, Stefanie; Kuhlen, Michaela; Ginzel, Sebastian; Schaper, Jörg; Rosenbaum, Thorsten; Pietsch, Torsten; Borkhardt, Arndt; Hoell, Jessica I.

Fam Cancer; 18(3): 353-358, 2019 07.

Artigo em Inglês | MEDLINE | ID: mdl-30680470

8.

No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.

Tesch, Victoria K; IJspeert, Hanna; Raicht, Andrea; Rueda, Daniel; Dominguez-Pinilla, Nerea; Allende, Luis M; Colas, Chrystelle; Rosenbaum, Thorsten; Ilencikova, Denisa; Baris, Hagit N; Nathrath, Michaela H M; Suerink, Manon; Januszkiewicz-Lewandowska, Danuta; Ragab, Iman; Azizi, Amedeo A; Wenzel, Soeren S; Zschocke, Johannes; Schwinger, Wolfgang; Kloor, Matthias; Blattmann, Claudia; Brugieres, Laurence; van der Burg, Mirjam; Wimmer, Katharina; Seidel, Markus G.

Front Immunol; 9: 1506, 2018.

Artigo em Inglês | MEDLINE | ID: mdl-30013564

9.

"How much brain is really necessary?" A case of complex cerebral malformation and its clinical course.

Distelmaier, Felix; Richter-Werkle, Renate; Schaper, Jörg; Messing-Juenger, Martina; Mayatepek, Ertan; Rosenbaum, Thorsten.

J Child Neurol; 22(6): 756-60, 2007 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-17641265

10.

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.

Maertens, Ophélia; Brems, Hilde; Vandesompele, Jo; De Raedt, Thomas; Heyns, Ine; Rosenbaum, Thorsten; De Schepper, Sofie; De Paepe, Anne; Mortier, Geert; Janssens, Sandra; Speleman, Frank; Legius, Eric; Messiaen, Ludwine.

Hum Mutat; 27(10): 1030-40, 2006 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-16941471

11.

Pseudotumor cerebri as an important differential diagnosis of papilledema in children.

Distelmaier, Felix; Sengler, Ulrike; Messing-Juenger, Martina; Assmann, Birgit; Mayatepek, Ertan; Rosenbaum, Thorsten.

Brain Dev; 28(3): 190-5, 2006 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-16368210

12.

Diagnostic delay of NF1 in hemifacial hypertrophy due to plexiform neurofibromas.

Overdiek, Anja; Feifel, Hartmut; Schaper, Jörg; Mayatepek, Ertan; Rosenbaum, Thorsten.

Brain Dev; 28(5): 275-80, 2006 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-16481142

13.

Childhood overgrowth in patients with common NF1 microdeletions.

Spiegel, Miriam; Oexle, Konrad; Horn, Denise; Windt, Elke; Buske, Annegret; Albrecht, Beate; Prott, Eva-Christina; Seemanová, Eva; Seidel, Joerg; Rosenbaum, Thorsten; Jenne, Dieter; Kehrer-Sawatzki, Hildegard; Tinschert, Sigrid.

Eur J Hum Genet; 13(7): 883-8, 2005 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-15856072

14.

Subdural hematoma as clinical presentation of osteogenesis imperfecta.

Groninger, Anja; Schaper, Jörg; Messing-Juenger, Martina; Mayatepek, Ertan; Rosenbaum, Thorsten.

Pediatr Neurol; 32(2): 140-2, 2005 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-15664779

15.

Subclassification of nerve sheath tumors by gene expression profiling.

Holtkamp, Nikola; Reuss, David E; Atallah, Isis; Kuban, Ralf-Jürgen; Hartmann, Christian; Mautner, Victor-F; Frahm, Silke; Friedrich, Reinhard E; Algermissen, Bernd; Pham, Van-Anh; Prietz, Sandra; Rosenbaum, Thorsten; Estevez-Schwarz, Lope; von Deimling, Andreas.

Brain Pathol; 14(3): 258-64, 2004 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-15446580

16.

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.

Vogt, Julia; Bengesser, Kathrin; Claes, Kathleen B M; Wimmer, Katharina; Mautner, Victor-Felix; van Minkelen, Rick; Legius, Eric; Brems, Hilde; Upadhyaya, Meena; Högel, Josef; Lazaro, Conxi; Rosenbaum, Thorsten; Bammert, Simone; Messiaen, Ludwine; Cooper, David N; Kehrer-Sawatzki, Hildegard.

Genome Biol; 15(6): R80, 2014 Jun 02.

Artigo em Inglês | MEDLINE | ID: mdl-24958239

17.

160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.

Czeschik, Johanna Christina; Hehr, Ute; Hartmann, Britta; Lüdecke, Hermann-Josef; Rosenbaum, Thorsten; Schweiger, Bernd; Wieczorek, Dagmar.

Eur J Med Genet; 56(12): 689-94, 2013 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-24120487

18.

Pediatric parafalcine empyemas.

Niklewski, Franziska; Petridis, Athanasios K; Al Hourani, Jasmin; Blaeser, Klaus; Ntoulias, Georgios; Bitter, Andrej; Rosenbaum, Thorsten; Scholz, Martin.

J Surg Case Rep; 2013(8)2013 Aug 29.

Artigo em Inglês | MEDLINE | ID: mdl-24964473

19.

Schwann cells from human neurofibromas show increased proliferation rates under the influence of progesterone.

Overdiek, Anja; Winner, Ursula; Mayatepek, Ertan; Rosenbaum, Thorsten.

Pediatr Res; 64(1): 40-3, 2008 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-18360307

20.

Secondary pseudotumor cerebri in pediatric oncology and hematology: an unpredictable condition of varying etiology.

Distelmaier, Felix; Göbel, Ulrich; Vandemeulebroecke, Nicola; Mayatepek, Ertan; Rosenbaum, Thorsten; Laws, Hans-Jürgen.

Pediatr Blood Cancer; 49(7): 1029-33, 2007 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-16470581

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