Report of a patient with a constitutional missense mutation inSMARCB1, Coffin-Siris phenotype, and schwannomatosis
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Title
Report of a patient with a constitutional missense mutation inSMARCB1, Coffin-Siris phenotype, and schwannomatosis
Authors
Keywords
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Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 167, Issue 12, Pages 3186-3191
Publisher
Wiley
Online
2015-09-14
DOI
10.1002/ajmg.a.37356
References
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- Coffin-Siris syndrome is a SWI/SNF complex disorder
- (2013) Y. Tsurusaki et al. CLINICAL GENETICS
- A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
- (2013) Dagmar Wieczorek et al. HUMAN MOLECULAR GENETICS
- Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas
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- The Coffin-Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases
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- (2012) Gijs W.E. Santen et al. Epigenetics
- Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
- (2012) Yoshinori Tsurusaki et al. NATURE GENETICS
- Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis
- (2012) Miriam J. Smith et al. NEUROGENETICS
- Clinical Features of Schwannomatosis: A Retrospective Analysis of 87 Patients
- (2012) V. L. Merker et al. ONCOLOGIST
- Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis
- (2011) Miriam J. Smith et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri
- (2011) Pepijn van den Munckhof et al. NEUROGENETICS
- The role of SMARCB1/INI1 in the development of rhabdoid tumors
- (2010) Charles Roberts et al. CANCER BIOLOGY & THERAPY
- Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas
- (2010) I. Christiaans et al. JOURNAL OF MEDICAL GENETICS
- Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors
- (2010) Katherine W. Eaton et al. PEDIATRIC BLOOD & CANCER
- Hearing Improvement after Bevacizumab in Patients with Neurofibromatosis Type 2
- (2009) Scott R. Plotkin et al. NEW ENGLAND JOURNAL OF MEDICINE
- Evidence of a four-hit mechanism involvingSMARCB1andNF2in schwannomatosis-associated schwannomas
- (2007) Roberta Sestini et al. HUMAN MUTATION
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