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A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients ⬇️

artículo científico publicado el 1 de mayo de 1998

Advances in fluorescent in situ hybridisation ⬇️

artículo científico publicado el 1 de febrero de 1998

Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project

artículo científico publicado en 2009

Checklist for gene/disease-specific variation database curators to enable ethical data management

artículo científico publicado en 2019

Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarray

artículo científico publicado en 2004

Common inherited mitochondrial DNA mutations and nucleoside reverse transcriptase inhibitor-induced severe hyperlactataemia in HIV-infected adults: an exploratory study

artículo científico publicado en 2011

Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings

scientific article published on 19 December 2019

Construction and characterization of a highly stable human:rodent monochromosomal hybrid panel for genetic complementation and genome mapping studies ⬇️

artículo científico publicado el 1 de enero de 1995

Contrasting exome constancy and regulatory region variation in the gene encoding CYP3A4: an examination of the extent and potential implications.

artículo científico publicado en 2016

Diversity of lactase persistence in African milk drinkers

artículo científico publicado en 2015

Ethiopian genetic diversity reveals linguistic stratification and complex influences on the Ethiopian gene pool

artículo científico publicado en 2012

Eugenics history: university geneticists respond

scientific article published on 01 April 2020

Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex

artículo científico publicado en 2012

Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex

artículo científico publicado en 2012

Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex

artículo científico publicado en 2011

Genetic signatures reveal high-altitude adaptation in a set of ethiopian populations ⬇️

artículo científico publicado en 2013

Group-based pharmacogenetic prediction: is it feasible and do current NHS England ethnic classifications provide appropriate data?

scientific article published on 18 July 2020

Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex

artículo científico publicado en 2009

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

artículo científico publicado en 1997

In Memoriam: Emeritus Professor Sue (Margaret Susan) Povey [1942-2019]

scientific article published on 25 July 2019

Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.

artículo científico publicado en 2002

Persistent severe polyuria after renal transplant

artículo científico publicado en 2015

Planning the human variome project: the Spain report

artículo científico publicado en 2009

The African Genome Variation Project shapes medical genetics in Africa

artículo científico publicado en 2014

The frequency of an IL-18-associated haplotype in Africans

artículo científico publicado en 2012

The human glucosamine-6-phosphate deaminase gene: cDNA cloning and expression, genomic organization and chromosomal localization ⬇️

artículo científico publicado el 17 de agosto de 1998

Tracing the route of modern humans out of Africa by using 225 human genome sequences from Ethiopians and Egyptians

artículo científico publicado en 2015

Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis

artículo científico publicado en 2015

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