[PDF][PDF] Comprehensive mutation analysis of TSC1 and TSC2—and phenotypic correlations in 150 families with tuberous sclerosis
AC Jones, MM Shyamsundar, MW Thomas… - The American Journal of …, 1999 - cell.com
Tuberous sclerosis (TSC [MIM 191090 and MIM 191100]) is an autosomal dominant
disorder characterized by hamartomas in many organs. Two thirds of cases are sporadic …
disorder characterized by hamartomas in many organs. Two thirds of cases are sporadic …
Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors
N Al-Tassan, NH Chmiel, J Maynard, N Fleming… - Nature …, 2002 - nature.com
Inherited defects of base excision repair have not been associated with any human genetic
disorder, although mutations of the genes mutM and mutY, which function in Escherichia coli …
disorder, although mutations of the genes mutM and mutY, which function in Escherichia coli …
Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C→T:A mutations
S Jones, P Emmerson, J Maynard… - Human molecular …, 2002 - academic.oup.com
We have recently demonstrated that inherited defects of the base excision repair gene MYH
predispose to multiple colorectal adenomas and carcinoma. Three affected siblings from a …
predispose to multiple colorectal adenomas and carcinoma. Three affected siblings from a …
Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH
JR Sampson, S Dolwani, S Jones, D Eccles, A Ellis… - The Lancet, 2003 - thelancet.com
Familial adenomatous polyposis (FAP) and attenuated FAP are autosomal dominant
disorders characterised by multiple colorectal adenomas and cancers. Both are caused by …
disorders characterised by multiple colorectal adenomas and cancers. Both are caused by …
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location
JP Cheadle, H Gill, N Fleming, J Maynard… - Human molecular …, 2000 - academic.oup.com
Mutations in the methyl-CpG-binding protein gene MECP2 at Xq28 cause Rett syndrome
(RTT), an X-linked dominant neurodevelopmental disorder characterized by a period of …
(RTT), an X-linked dominant neurodevelopmental disorder characterized by a period of …
Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in …
PW Lunt, PE Jardine, MC Koch… - Human molecular …, 1995 - academic.oup.com
In facioscapulohumeral muscular dystrophy (FSHD), the wide range of clinical severity
observed both within and between families has obscured past attempts to identify any …
observed both within and between families has obscured past attempts to identify any …
Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin
AK Hodges, S Li, J Maynard, L Parry… - Human molecular …, 2001 - academic.oup.com
Critical functions of hamartin and tuberin, encoded by the TSC1 and TSC2 genes, are likely
to be closely linked. The proteins interact directly with one another and mutations affecting …
to be closely linked. The proteins interact directly with one another and mutations affecting …
Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene
M Upadhyaya, MJ Osborn, J Maynard, MR Kim… - Human genetics, 1996 - Springer
Abstract Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant
disorders. It is caused by mutations in the NF1 gene which comprises 60 exons and is …
disorders. It is caused by mutations in the NF1 gene which comprises 60 exons and is …
Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3
AR Dallosso, S Dolwani, N Jones, S Jones, J Colley… - Gut, 2008 - gut.bmj.com
Background: MUTYH-associated polyposis (MAP) is a recessive trait characterised by
multiple colorectal adenomas and a high risk of colorectal cancer. MUTYH functions in the …
multiple colorectal adenomas and a high risk of colorectal cancer. MUTYH functions in the …
Adenoma development in familial adenomatous polyposis and MUTYH‐associated polyposis: somatic landscape and driver genes
Familial adenomatous polyposis (FAP) and MUTYH‐associated polyposis (MAP) are
inherited disorders associated with multiple colorectal adenomas that lead to a very high risk …
inherited disorders associated with multiple colorectal adenomas that lead to a very high risk …