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Refinado por: data de publicação: Após 2012 remover assunto: Mutation remover
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Adverse Prognostic Impact of the KIT D816V Transcriptional Activity in Advanced Systemic Mastocytosis
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Adverse Prognostic Impact of the KIT D816V Transcriptional Activity in Advanced Systemic Mastocytosis

Naumann, Nicole ; Lübke, Johannes ; Baumann, Sofie ; Schwaab, Juliana ; Hoffmann, Oliver ; Kreil, Sebastian ; Dangelo, Vito ; Reiter, Lukas ; Bugert, Peter ; Kristensen, Thomas ; Sotlar, Karl ; Haselmann, Verena ; Schneider, Sven ; Metzgeroth, Georgia ; Weiss, Christel ; Popp, Henning D ; Fabarius, Alice ; Hofmann, Wolf-Karsten ; Cross, Nicholas C P ; Reiter, Andreas ; Jawhar, Mohamad

International journal of molecular sciences, 2021-03, Vol.22 (5), p.2562 [Periódico revisado por pares]

Switzerland: MDPI AG

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2
Incidence and prognostic impact of cytogenetic aberrations in patients with systemic mastocytosis
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Incidence and prognostic impact of cytogenetic aberrations in patients with systemic mastocytosis

Naumann, Nicole ; Jawhar, Mohamad ; Schwaab, Juliana ; Kluger, Sebastian ; Lübke, Johannes ; Metzgeroth, Georgia ; Popp, Henning D. ; Khaled, Nada ; Horny, Hans‐Peter ; Sotlar, Karl ; Valent, Peter ; Haferlach, Claudia ; Göhring, Gudrun ; Schlegelberger, Brigitte ; Meggendorfer, Manja ; Hofmann, Wolf‐Karsten ; Cross, Nicholas C.P. ; Reiter, Andreas ; Fabarius, Alice

Genes chromosomes & cancer, 2018-05, Vol.57 (5), p.252-259 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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3
Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation
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Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation

Schwarz, Hannah ; Popp, Bernt ; Airik, Rannar ; Torabi, Nasrin ; Knaup, Karl X ; Stoeckert, Johanna ; Wiech, Thorsten ; Amann, Kerstin ; Reis, André ; Schiffer, Mario ; Wiesener, Michael S ; Schueler, Markus

Human molecular genetics, 2022-05, Vol.31 (9), p.1357-1369 [Periódico revisado por pares]

England: Oxford University Press

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4
Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study
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Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study

Popp, Bernt ; Ekici, Arif B ; Knaup, Karl X ; Schneider, Karen ; Uebe, Steffen ; Park, Jonghun ; Bafna, Vineet ; Meiselbach, Heike ; Eckardt, Kai-Uwe ; Schiffer, Mario ; Reis, André ; Kraus, Cornelia ; Wiesener, Michael

European journal of human genetics : EJHG, 2022-12, Vol.30 (12), p.1413-1422 [Periódico revisado por pares]

England: Springer International Publishing

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5
Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability
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Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability

Popp, Bernt ; Agaimy, Abbas ; Kraus, Cornelia ; Knaup, Karl X ; Ekici, Arif B ; Uebe, Steffen ; Reis, André ; Wiesener, Michael ; Zweier, Christiane

BMC cancer, 2019-05, Vol.19 (1), p.435-435, Article 435 [Periódico revisado por pares]

England: BioMed Central Ltd

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6
Poly(ADP-ribose) binding to Chk1 at stalled replication forks is required for S-phase checkpoint activation
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Poly(ADP-ribose) binding to Chk1 at stalled replication forks is required for S-phase checkpoint activation

Min, WooKee ; Bruhn, Christopher ; Grigaravicius, Paulius ; Zhou, Zhong-Wei ; Li, Fu ; Krüger, Anja ; Siddeek, Bénazir ; Greulich, Karl-Otto ; Popp, Oliver ; Meisezahl, Chris ; Calkhoven, Cornelis F ; Bürkle, Alexander ; Xu, Xingzhi ; Wang, Zhao-Qi

Nature communications, 2013-12, Vol.4 (1), p.2993, Article 2993 [Periódico revisado por pares]

England: Nature Publishing Group

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