Literature DB >> 15235024

Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2.

T Tsilchorozidou, F H Menko, F Lalloo, A Kidd, R De Silva, H Thomas, P Smith, A Malcolmson, J Dore, K Madan, A Brown, J G Yovos, M Tsaligopoulos, N Vogiatzis, M E Baser, A J Wallace, D G R Evans.   

Abstract

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Year:  2004        PMID： 15235024      PMCID： PMC1735825          DOI： 10.1136/jmg.2003.016774

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  10 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.  Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.

Authors:  Heather M Byers; Margaret P Adam; Amy LaCroix; Sarah E S Leary; Bonnie Cole; William B Dobyns; Heather C Mefford
Journal:  Am J Med Genet A       Date:  2016-10-12       Impact factor: 2.802

3.  Copy number variations and cancer.

Authors:  Adam Shlien; David Malkin
Journal:  Genome Med       Date:  2009-06-16       Impact factor: 11.117

4.  Clinical Reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2: One ring to bind them.

Authors:  Ariel M Lyons-Warren; Sau Wai Cheung; J Lloyd Holder
Journal:  Neurology       Date:  2017-10-24       Impact factor: 9.910

Review 5.  Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring.

Authors:  Alexander Kolevzon; Benjamin Angarita; Lauren Bush; A Ting Wang; Yitzchak Frank; Amy Yang; Robert Rapaport; Jeffrey Saland; Shubhika Srivastava; Cristina Farrell; Lisa J Edelmann; Joseph D Buxbaum
Journal:  J Neurodev Disord       Date:  2014-10-08       Impact factor: 4.025

6.  Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.

Authors:  Alexander Kolevzon; Elsa Delaby; Elizabeth Berry-Kravis; Joseph D Buxbaum; Catalina Betancur
Journal:  Mol Autism       Date:  2019-12-24       Impact factor: 7.509

7.  Characterization of 22q12 Microdeletions Causing Position Effect in Rare NF2 Patients with Complex Phenotypes.

Authors:  Viviana Tritto; Marica Eoli; Rosina Paterra; Serena Redaelli; Marco Moscatelli; Francesco Rusconi; Paola Riva
Journal:  Int J Mol Sci       Date:  2022-09-02       Impact factor: 6.208

Review 8.  Neurofibromatosis type 2 (NF2): a clinical and molecular review.

Authors:  D Gareth R Evans
Journal:  Orphanet J Rare Dis       Date:  2009-06-19       Impact factor: 4.123

9.  Pathogenesis of vestibular schwannoma in ring chromosome 22.

Authors:  Ellen Denayer; Hilde Brems; Paul de Cock; Gareth D Evans; Frank Van Calenbergh; Naomi Bowers; Raf Sciot; Maria Debiec-Rychter; Joris V Vermeesch; Jean-Pierre Fryns; Eric Legius
Journal:  BMC Med Genet       Date:  2009-09-22       Impact factor: 2.103

10.  Functional annotation of proteome encoded by human chromosome 22.

Authors:  Sneha M Pinto; Srikanth S Manda; Min-Sik Kim; KyOnese Taylor; Lakshmi Dhevi Nagarajha Selvan; Lavanya Balakrishnan; Tejaswini Subbannayya; Fangfei Yan; T S Keshava Prasad; Harsha Gowda; Charles Lee; William S Hancock; Akhilesh Pandey
Journal:  J Proteome Res       Date:  2014-04-29       Impact factor: 4.466
  10 in total

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