Búsqueda | Biblioteca Virtual en Salud Fronteriza

1.

Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.

Block, Jana; Rashkova, Christina; Castanon, Irinka; Zoghi, Samaneh; Platon, Jessica; Ardy, Rico C; Fujiwara, Mitsuhiro; Chaves, Beatriz; Schoppmeyer, Rouven; van der Made, Caspar I; Jimenez Heredia, Raul; Harms, Frederike L; Alavi, Samin; Alsina, Laia; Sanchez Moreno, Paula; Ávila Polo, Rainiero; Cabrera-Pérez, Rocío; Kostel Bal, Sevgi; Pfajfer, Laurène; Ransmayr, Bernhard; Mautner, Anna-Katharina; Kondo, Ryohei; Tinnacher, Anna; Caldera, Michael; Schuster, Michael; Domínguez Conde, Cecilia; Platzer, René; Salzer, Elisabeth; Boyer, Thomas; Brunner, Han G; Nooitgedagt-Frons, Judith E; Iglesias, Estíbaliz; Deyà-Martinez, Angela; Camacho-Lovillo, Marisol; Menche, Jörg; Bock, Christoph; Huppa, Johannes B; Pickl, Winfried F; Distel, Martin; Yoder, Jeffrey A; Traver, David; Engelhardt, Karin R; Linden, Tobias; Kager, Leo; Hannich, J Thomas; Hoischen, Alexander; Hambleton, Sophie; Illsinger, Sabine; Da Costa, Lydie; Kutsche, Kerstin.

N Engl J Med ; 389(6): 527-539, 2023 Aug 10.

Artículo en Inglés | MEDLINE | ID: mdl-37342957

2.

Pediatric Reference Centiles of Bone Mineral Density and Body Composition of Lower Limbs.

Schafmeyer, Leonie; Linden, Tobias; Sill, Helge; Rehberg, Mirko; Schoenau, Eckhard; Duran, Ibrahim.

J Clin Densitom ; 25(1): 73-80, 2022.

Artículo en Inglés | MEDLINE | ID: mdl-34456143

3.

Diagnostic Evaluation of the Functional Muscle-Bone Unit in Children With Cerebral Palsy With and Without Low Trauma Fractures.

Schafmeyer, Leonie; Al-Monajjed, Mike; Linden, Tobias; Wunram, Heidrun Lioba; Semler, Oliver; Schoenau, Eckhard; Duran, Ibrahim.

J Clin Densitom ; 25(3): 334-342, 2022.

Artículo en Inglés | MEDLINE | ID: mdl-35168895

4.

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Mucha, Bettina E; Banka, Siddharth; Ajeawung, Norbert Fonya; Molidperee, Sirinart; Chen, Gary G; Koenig, Mary Kay; Adejumo, Rhamat B; Till, Marianne; Harbord, Michael; Perrier, Renee; Lemyre, Emmanuelle; Boucher, Renee-Myriam; Skotko, Brian G; Waxler, Jessica L; Thomas, Mary Ann; Hodge, Jennelle C; Gecz, Jozef; Nicholl, Jillian; McGregor, Lesley; Linden, Tobias; Sisodiya, Sanjay M; Sanlaville, Damien; Cheung, Sau W; Ernst, Carl; Campeau, Philippe M.

Genet Med ; 21(5): 1058-1064, 2019 05.

Artículo en Inglés | MEDLINE | ID: mdl-30245510

5.

Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Mucha, Bettina E; Banka, Siddharth; Ajeawung, Norbert Fonya; Molidperee, Sirinart; Chen, Gary G; Koenig, Mary Kay; Adejumo, Rhamat B; Till, Marianne; Harbord, Michael; Perrier, Renee; Lemyre, Emmanuelle; Boucher, Renee-Myriam; Skotko, Brian G; Waxler, Jessica L; Thomas, Mary Ann; Hodge, Jennelle C; Gecz, Jozef; Nicholl, Jillian; McGregor, Lesley; Linden, Tobias; Sisodiya, Sanjay M; Sanlaville, Damien; Cheung, Sau W; Ernst, Carl; Campeau, Philippe M.

Genet Med ; 21(9): 2159-2160, 2019 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-30643220

6.

Primary haemophagocytic lymphohistiocytosis (Chédiak-Higashi Syndrome) triggered by acute SARS-CoV-2 infection in a six-week-old infant.

Lange, Matthias; Linden, Tobias; Müller, Hermann L; Flasskuehler, Meera A; Koester, Holger; Lehmberg, Kai; Ledig, Svea; Ehl, Stephan; Heep, Axel; Beske, Florian.

Br J Haematol ; 195(2): 198-200, 2021 10.

Artículo en Inglés | MEDLINE | ID: mdl-34132389

7.

A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia.

Hogrebe, Max; Murakami, Yoshiko; Wild, Martin; Ahlmann, Martina; Biskup, Saskia; Hörtnagel, Konstanze; Grüneberg, Marianne; Reunert, Janine; Linden, Tobias; Kinoshita, Taroh; Marquardt, Thorsten.

Am J Med Genet A ; 170(12): 3319-3322, 2016 12.

Artículo en Inglés | MEDLINE | ID: mdl-27626616

8.

Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.

Thalwitzer, Kim M; Driedger, Jan H; Xian, Julie; Saffari, Afshin; Zacher, Pia; Bölsterli, Bigna K; Ruggiero, Sarah McKeown; Sullivan, Katie Rose; Datta, Alexandre N; Kellinghaus, Christoph; Althaus, Jürgen; Wiemer-Kruel, Adelheid; van Baalen, Andreas; Pampel, Armin; Alber, Michael; Braakman, Hilde M H; Debus, Otfried M; Denecke, Jonas; Hobbiebrunken, Elke; Breitweg, Ina; Diehl, Danielle; Eitel, Hans; Gburek-Augustat, Janina; Preisel, Martin; Schlump, Jan-Ulrich; Laufs, Mirjam; Mammadova, Dilbar; Wurst, Carsten; Prager, Christine; Löhr-Nilles, Christa; Martin, Peter; Garbade, Sven F; Platzer, Konrad; Benkel-Herrenbrueck, Ira; Egler, Kerstin; Fazeli, Walid; Lemke, Johannes R; Runkel, Eva; Klein, Barbara; Linden, Tobias; Schröter, Julian; Steffeck, Heike; Thies, Bastian; von Deimling, Florian; Illsinger, Sabine; Borggraefe, Ingo; Classen, Georg; Wieczorek, Dagmar; Ramantani, Georgia; Koelker, Stefan.

Neurology ; 101(9): e879-e891, 2023 08 29.

Artículo en Inglés | MEDLINE | ID: mdl-37407264

9.

Interaction between fat- and muscle development in children and adolescents.

Schafmeyer, Leonie; Linden, Tobias; Wunram, Heidrun Lioba; Semmelweis, Alexandra; Schoenau, Eckhard; Duran, Ibrahim.

Anthropol Anz ; 2022 Jul 14.

Artículo en Inglés | MEDLINE | ID: mdl-37449737

10.

Sequential acquisition of IgH and TCR rearrangements during the preleukemic phase of acute lymphoblastic leukemia in an adolescent patient.

Linden, Tobias; Furlan, Ingrid; Schwarz, Stephan; Stoehr, Robert; Niemeyer, Charlotte M; Rossig, Claudia.

Pediatr Blood Cancer ; 56(2): 301-3, 2011 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-20860042

11.

Molecular diagnosis of Shwachman-Diamond syndrome in a child with incomplete clinical disease phenotype.

Linden, Tobias; Ehlert, Karoline; Niemeyer, Charlotte M; Fleischhack, Gudrun; Jürgens, Heribert; Rossig, Claudia.

Pediatr Blood Cancer ; 55(1): 177-9, 2010 Jul 15.

Artículo en Inglés | MEDLINE | ID: mdl-20486183

12.

Number of genomic imbalances correlates with the overall survival for adrenocortical cancer in childhood.

Loncarevic, Ivan F; Hering, Antje; Posorski, Nicole; Linden, Tobias; Hoyer, Heike; Bucsky, Peter.

Pediatr Blood Cancer ; 51(3): 356-62, 2008 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-18478573

13.

UICC-2002 TNM classification is not suitable for differentiated thyroid cancer in children and adolescents.

Oommen, Prasad T; Romahn, Annika; Linden, Tobias; Frühwald, Michael C; Bucsky, Peter.

Pediatr Blood Cancer ; 50(6): 1159-62, 2008 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-17973315

14.

Childhood B-cell precursor acute lymphoblastic leukaemia in a patient with familial thrombocytopenia and RUNX1 mutation.

Linden, Tobias; Schnittger, Susanne; Groll, Andreas H; Juergens, Heribert; Rossig, Claudia.

Br J Haematol ; 151(5): 528-30, 2010 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-20880108

15.

The antimycotic ciclopirox olamine induces HIF-1alpha stability, VEGF expression, and angiogenesis.

Linden, Tobias; Katschinski, Dörthe M; Eckhardt, Katrin; Scheid, Annette; Pagel, Horst; Wenger, Roland H.

FASEB J ; 17(6): 761-3, 2003 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-12594177

16.

Hereditary thrombocytopenia and acute myeloid leukemia: a common link due to a germline mutation in the AML1 gene.

Appelmann, Iris; Linden, Tobias; Rudat, Annika; Mueller-Tidow, Carsten; Berdel, Wolfgang E; Mesters, Rolf M.

Ann Hematol ; 88(10): 1037-8, 2009 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-19337732

17.

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.

Horn, Denise; Wieczorek, Dagmar; Metcalfe, Kay; Baric, Ivo; Palezac, Lidija; Cuk, Mario; Petkovic Ramadza, Danijela; Krüger, Ulrike; Demuth, Stephanie; Heinritz, Wolfram; Linden, Tobias; Koenig, Jens; Robinson, Peter N; Krawitz, Peter.

Eur J Hum Genet ; 22(6): 762-7, 2014 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-24129430

18.

Copper-dependent activation of hypoxia-inducible factor (HIF)-1: implications for ceruloplasmin regulation.

Martin, Falk; Linden, Tobias; Katschinski, Dörthe M; Oehme, Felix; Flamme, Ingo; Mukhopadhyay, Chinmay K; Eckhardt, Katrin; Tröger, Juliane; Barth, Sandra; Camenisch, Gieri; Wenger, Roland H.

Blood ; 105(12): 4613-9, 2005 Jun 15.

Artículo en Inglés | MEDLINE | ID: mdl-15741220

19.

Iron chelation, angiogenesis and tumor therapy.

Linden, Tobias; Wenger, Roland H.

Int J Cancer ; 106(3): 458-9, 2003 Sep 01.

Artículo en Inglés | MEDLINE | ID: mdl-12845689

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