Lista de obras - Miriam J Smith - Dominio Público Uruguay

A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer

scientific article published on 01 August 2018

A deep intronic SMARCB1 variant associated with schwannomatosis

scientific article published on 09 September 2019

Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis

scientific article published on 21 July 2008

Association between genetic polymorphisms and endometrial cancer risk: a systematic review

scientific article published on 17 February 2020

Characterising the loss-of-function impact of 5' untranslated region variants in whole genome sequence data from 15,708 individuals

Characterization of age-dependent and progressive cortical neuronal degeneration in presenilin conditional mutant mice.

artículo científico publicado en 2010

Comment on the article “Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri” by van den Munckhof et al

scientific article published on 28 December 2011

Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome

artículo científico publicado en 2014

Epithelial ovarian cancer risk: A review of the current genetic landscape

artículo científico publicado en 2019

First evidence of genotype-phenotype correlations in Gorlin syndrome

artículo científico publicado en 2017

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

scientific article published on 22 March 2012

From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis

scientific article published on 25 March 2019

GRIF-1 and OIP106, members of a novel gene family of coiled-coil domain proteins: association in vivo and in vitro with kinesin

artículo científico publicado en 2005

Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas

artículo científico publicado en 2014

Germline and somatic mutations in meningiomas.

artículo científico

Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations

artículo científico publicado en 2014

High sensitivity for BRCA1/2 mutations in breast/ovarian kindreds: are there still other breast/ovary genes to be discovered?

article

Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations

artículo científico publicado en 2009

Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing

scientific article published on 05 July 2019

Indirect regulation of presenilins in CREB-mediated transcription.

artículo científico publicado en 2009

Intronic splicing mutations in PTCH1 cause Gorlin syndrome.

artículo científico publicado en 2014

Isolated unilateral vestibular schwannomas do not harbor HRAS mutations

artículo científico publicado en 2010

Loss of SUFU function in familial multiple meningioma.

artículo científico publicado en 2012

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

artículo científico publicado en 2013

Mapping the GRIF-1 binding domain of the kinesin, KIF5C, substantiates a role for GRIF-1 as an adaptor protein in the anterograde trafficking of cargoes.

artículo científico publicado en 2006

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

artículo científico publicado en 2014

Pediatric intracranial clear cell meningioma associated with a germline mutation of SMARCE1: a novel case.

artículo científico

Plasma S100β is not a useful biomarker for tumor burden in neurofibromatosis

scientific article published on 19 December 2012

Rapid reversal of clinical down-classification of a BRCA1 splicing variant avoiding psychological harm

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2, and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer

scientific article published on 07 February 2020

SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors

artículo científico publicado en 2014

SMARCE1 deficiency generates a targetable mSWI/SNF dependency in clear cell meningioma

artículo científico publicado en 2022

SMARCE1 mutation screening in classification of clear cell meningiomas

artículo científico publicado en 2016

SMARCE1 mutations in pediatric clear cell meningioma: case report

artículo científico

Schwannomatosis: a genetic and epidemiological study

scholarly article by Gareth Evans et al published 16 June 2018 in Journal of Neurology, Neurosurgery and Psychiatry

Sporadic vestibular schwannoma: a molecular testing summary

artículo científico publicado en 2020

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

artículo científico publicado en 2013

Update from the 2013 International Neurofibromatosis Conference

artículo científico publicado en 2014

Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis

artículo científico publicado en 2011

Lista de obras de Miriam J Smith

A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer

A deep intronic SMARCB1 variant associated with schwannomatosis

Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis

Association between genetic polymorphisms and endometrial cancer risk: a systematic review

Characterising the loss-of-function impact of 5' untranslated region variants in whole genome sequence data from 15,708 individuals

Characterization of age-dependent and progressive cortical neuronal degeneration in presenilin conditional mutant mice.

Comment on the article “Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri” by van den Munckhof et al

Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome

Epithelial ovarian cancer risk: A review of the current genetic landscape

First evidence of genotype-phenotype correlations in Gorlin syndrome

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis

GRIF-1 and OIP106, members of a novel gene family of coiled-coil domain proteins: association in vivo and in vitro with kinesin

Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas

Germline and somatic mutations in meningiomas.

Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations

High sensitivity for BRCA1/2 mutations in breast/ovarian kindreds: are there still other breast/ovary genes to be discovered?

Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations

Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing

Indirect regulation of presenilins in CREB-mediated transcription.

Intronic splicing mutations in PTCH1 cause Gorlin syndrome.

Isolated unilateral vestibular schwannomas do not harbor HRAS mutations

Loss of SUFU function in familial multiple meningioma.

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

Mapping the GRIF-1 binding domain of the kinesin, KIF5C, substantiates a role for GRIF-1 as an adaptor protein in the anterograde trafficking of cargoes.

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

Pediatric intracranial clear cell meningioma associated with a germline mutation of SMARCE1: a novel case.

Plasma S100β is not a useful biomarker for tumor burden in neurofibromatosis

Rapid reversal of clinical down-classification of a BRCA1 splicing variant avoiding psychological harm

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

Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2, and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer

SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors

SMARCE1 deficiency generates a targetable mSWI/SNF dependency in clear cell meningioma

SMARCE1 mutation screening in classification of clear cell meningiomas

SMARCE1 mutations in pediatric clear cell meningioma: case report

Schwannomatosis: a genetic and epidemiological study

Sporadic vestibular schwannoma: a molecular testing summary

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

Update from the 2013 International Neurofibromatosis Conference

Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis