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Miriam J Smith Selected Research

Schwannomatosis

10/2022Screening of potential novel candidate genes in schwannomatosis patients.
1/2022Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
10/2019Multiple primary malignancies associated with a germline SMARCB1 pathogenic variant.
9/2014SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors.
3/2013Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.
12/2012Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.
5/2012Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis.

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Miriam J Smith Research Topics

Disease

8Neoplasms (Cancer)
11/2022 - 12/2012
7Schwannomatosis
10/2022 - 05/2012
6Neurilemmoma (Schwannoma)
05/2023 - 12/2012
4Meningioma (Meningiomas)
05/2023 - 12/2014
3Basal Cell Nevus Syndrome (Gorlin Syndrome)
01/2018 - 09/2014
1Ependymoma
05/2023
1Melanoma (Melanoma, Malignant)
10/2022
1Genetic Predisposition to Disease (Genetic Predisposition)
01/2022
1Endometrial Neoplasms (Endometrial Cancer)
01/2022
1Neurofibromatosis 2 (Neurofibromatosis Type II)
01/2022
1Breast Neoplasms (Breast Cancer)
02/2020
1Lymphoma (Lymphomas)
10/2019
1Ovarian Neoplasms (Ovarian Cancer)
01/2018
1Acoustic Neuroma (Acoustic Neurinoma)
05/2013
1Neurofibromatoses (Neurofibromatosis)
05/2013
1Gonadal dysgenesis XX type deafness
04/2013
1Rhabdoid Tumor (Rhabdoid Tumors)
12/2012
1Alzheimer Disease (Alzheimer's Disease)
04/2010

Drug/Important Bio-Agent (IBA)

5DNA (Deoxyribonucleic Acid)IBA
01/2020 - 12/2012
2Bevacizumab (Avastin)FDA Link
05/2023 - 01/2021
2Nonsense Codon (Nonsense Mutation)IBA
11/2022 - 01/2018
2Adenosine Triphosphate (ATP)IBA
01/2022 - 04/2013
2RNA (Ribonucleic Acid)IBA
12/2014 - 09/2014
2Proteins (Proteins, Gene)FDA Link
12/2014 - 03/2013
23' Untranslated Regions (3' UTR)IBA
09/2014 - 05/2012
1ubiquinone 6IBA
10/2022
1Tumor Suppressor Protein p14ARF (p14ARF)IBA
10/2022
1Uvitex SWN (SWN)IBA
01/2022
1ChromatinIBA
01/2022
1NucleotidesIBA
01/2022
15' Untranslated Regions (5' UTR)IBA
01/2018
1hydrogen sulfite (bisulfite)IBA
01/2018
1ParaffinIBA
12/2014
1Biomarkers (Surrogate Marker)IBA
05/2013
1Histidine-tRNA LigaseIBA
04/2013
1Peptide Hydrolases (Proteases)FDA Link
04/2013
1Mitochondrial Proteins (Mitochondrial Protein)IBA
04/2013
1SMARCB1 ProteinIBA
12/2012
1PresenilinsIBA
04/2010

Therapy/Procedure

2Genomic Medicine
02/2020 - 01/2017
2Drug Therapy (Chemotherapy)
10/2019 - 03/2013
2Ligation
12/2014 - 09/2014
1Radiotherapy
11/2022
1Mastectomy (Mammectomy)
02/2020