Literature DB >> 26342709

Identification of a novel germline SMARCB1 nonsense mutation in a family manifesting both schwannomatosis and unilateral vestibular schwannoma.

Jian Wu1, Mingxiang Kong2, Qing Bi3.   

Abstract

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Year:  2015        PMID： 26342709     DOI： 10.1007/s11060-015-1918-7

Source DB:  PubMed          Journal:  J Neurooncol        ISSN： 0167-594X            Impact factor:   4.130


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  3 in total

1.  Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.

Authors:  Scott R Plotkin; Jaishri O Blakeley; D Gareth Evans; C Oliver Hanemann; Theo J M Hulsebos; Kim Hunter-Schaedle; Ganjam V Kalpana; Bruce Korf; Ludwine Messiaen; Laura Papi; Nancy Ratner; Larry S Sherman; Miriam J Smith; Anat O Stemmer-Rachamimov; Jeremie Vitte; Marco Giovannini
Journal:  Am J Med Genet A       Date:  2013-02-07       Impact factor: 2.802

2.  Germline mutation of INI1/SMARCB1 in familial schwannomatosis.

Authors:  Theo J M Hulsebos; Astrid S Plomp; Ruud A Wolterman; Els C Robanus-Maandag; Frank Baas; Pieter Wesseling
Journal:  Am J Hum Genet       Date:  2007-02-16       Impact factor: 11.025

3.  Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.

Authors:  Arkadiusz Piotrowski; Jing Xie; Ying F Liu; Andrzej B Poplawski; Alicia R Gomes; Piotr Madanecki; Chuanhua Fu; Michael R Crowley; David K Crossman; Linlea Armstrong; Dusica Babovic-Vuksanovic; Amanda Bergner; Jaishri O Blakeley; Andrea L Blumenthal; Molly S Daniels; Howard Feit; Kathy Gardner; Stephanie Hurst; Christine Kobelka; Chung Lee; Rebecca Nagy; Katherine A Rauen; John M Slopis; Pim Suwannarat; Judith A Westman; Andrea Zanko; Bruce R Korf; Ludwine M Messiaen
Journal:  Nat Genet       Date:  2013-12-22       Impact factor: 38.330
  3 in total
  4 in total

1.  Schwannomatosis patient who was followed up for fifteen years: A case report.

Authors:  Kai Li; Si-Jing Liu; Huai-Bo Wang; Chang-Yu Yin; Yong-Sheng Huang; Wei-Tao Guo
Journal:  World J Clin Cases       Date:  2022-07-16       Impact factor: 1.534

2.  Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis.

Authors:  Miriam J Smith; Naomi L Bowers; Michael Bulman; Carolyn Gokhale; Andrew J Wallace; Andrew T King; Simon K L Lloyd; Scott A Rutherford; Charlotte L Hammerbeck-Ward; Simon R Freeman; D Gareth Evans
Journal:  Neurology       Date:  2016-11-16       Impact factor: 9.910

Review 3.  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

4.  Familial unilateral vestibular schwannoma is rarely caused by inherited variants in the NF2 gene.

Authors:  D Gareth Evans; Andrew J Wallace; Claire Hartley; Simon R Freeman; Simon K Lloyd; Owen Thomas; Patrick Axon; Charlotte L Hammerbeck-Ward; Omar Pathmanaban; Scott A Rutherford; Mark Kellett; Roger Laitt; Andrew T King; Jemma Bischetsrieder; Jaishri Blakeley; Miriam J Smith
Journal:  Laryngoscope       Date:  2018-10-16       Impact factor: 3.325
  4 in total

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