Literature DB >> 25008767

Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants.

Sonja Hutter1, Rosario M Piro, David E Reuss, Volker Hovestadt, Felix Sahm, Said Farschtschi, Hildegard Kehrer-Sawatzki, Stephan Wolf, Peter Lichter, Andreas von Deimling, Martin U Schuhmann, Stefan M Pfister, David T W Jones, Victor F Mautner.   

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Year:  2014        PMID： 25008767     DOI： 10.1007/s00401-014-1311-1

Source DB:  PubMed          Journal:  Acta Neuropathol        ISSN： 0001-6322            Impact factor:   17.088


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  17 in total

1.  Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.

Authors:  Camille Louvrier; Eric Pasmant; Audrey Briand-Suleau; Joëlle Cohen; Patrick Nitschké; Juliette Nectoux; Lucie Orhant; Cécile Zordan; Cyril Goizet; Stéphane Goutagny; Dominique Lallemand; Michel Vidaud; Dominique Vidaud; Michel Kalamarides; Béatrice Parfait
Journal:  Neuro Oncol       Date:  2018-06-18       Impact factor: 12.300

2.  DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.

Authors:  Barbara Rivera; Javad Nadaf; Somayyeh Fahiminiya; Maria Apellaniz-Ruiz; Avi Saskin; Anne-Sophie Chong; Sahil Sharma; Rabea Wagener; Timothée Revil; Vincenzo Condello; Zineb Harra; Nancy Hamel; Nelly Sabbaghian; Karl Muchantef; Christian Thomas; Leanne de Kock; Marie-Noëlle Hébert-Blouin; Angelia V Bassenden; Hannah Rabenstein; Ozgur Mete; Ralf Paschke; Marc P Pusztaszeri; Werner Paulus; Albert Berghuis; Jiannis Ragoussis; Yuri E Nikiforov; Reiner Siebert; Steffen Albrecht; Robert Turcotte; Martin Hasselblatt; Marc R Fabian; William D Foulkes
Journal:  J Clin Invest       Date:  2020-03-02       Impact factor: 14.808

3.  No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.

Authors:  Sonja Hutter; Rosario M Piro; Sebastian M Waszak; Hildegard Kehrer-Sawatzki; Reinhard E Friedrich; Alvaro Lassaletta; Olaf Witt; Jan O Korbel; Peter Lichter; Martin U Schuhmann; Stefan M Pfister; Uri Tabori; Victor F Mautner; David T W Jones
Journal:  Hum Genet       Date:  2016-03-11       Impact factor: 4.132

4.  Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.

Authors:  M Steklov; S Pandolfi; M F Baietti; A Batiuk; P Carai; P Najm; M Zhang; H Jang; F Renzi; Y Cai; L Abbasi Asbagh; T Pastor; M De Troyer; M Simicek; E Radaelli; H Brems; E Legius; J Tavernier; K Gevaert; F Impens; L Messiaen; R Nussinov; S Heymans; S Eyckerman; A A Sablina
Journal:  Science       Date:  2018-11-15       Impact factor: 47.728

5.  Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas.

Authors:  Hildegard Kehrer-Sawatzki; Lan Kluwe; Reinhard E Friedrich; Anna Summerer; Eleonora Schäfer; Ute Wahlländer; Cordula Matthies; Isabel Gugel; Said Farschtschi; Christian Hagel; David N Cooper; Victor-Felix Mautner
Journal:  Hum Genet       Date:  2018-07-13       Impact factor: 4.132

Review 6.  [Pathogenesis and molecular pathology of vestibular schwannoma].

Authors:  M Brodhun; V Stahn; A Harder
Journal:  HNO       Date:  2017-05       Impact factor: 1.284

7.  Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.

Authors:  Ikumi Umeki; Tetsuya Niihori; Taiki Abe; Shin-Ichiro Kanno; Nobuhiko Okamoto; Seiji Mizuno; Kenji Kurosawa; Keisuke Nagasaki; Makoto Yoshida; Hirofumi Ohashi; Shin-Ichi Inoue; Yoichi Matsubara; Ikuma Fujiwara; Shigeo Kure; Yoko Aoki
Journal:  Hum Genet       Date:  2018-10-27       Impact factor: 4.132

Review 8.  The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.

Authors:  Hildegard Kehrer-Sawatzki; Said Farschtschi; Victor-Felix Mautner; David N Cooper
Journal:  Hum Genet       Date:  2016-12-05       Impact factor: 4.132

9.  KIR2DL5 mutation and loss underlies sporadic dermal neurofibroma pathogenesis and growth.

Authors:  Corina Anastasaki; Sonika Dahiya; David H Gutmann
Journal:  Oncotarget       Date:  2017-07-18

Review 10.  The Neurofibromatoses.

Authors:  Said Farschtschi; Victor-Felix Mautner; Anna Cecilia Lawson McLean; Alexander Schulz; Reinhard E Friedrich; Steffen K Rosahl
Journal:  Dtsch Arztebl Int       Date:  2020-05-15       Impact factor: 5.594
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