Search filters

List of works by Syd Barthorpe

A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy

scientific article

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

scientific article

Combinations of PARP Inhibitors with Temozolomide Drive PARP1 Trapping and Apoptosis in Ewing's Sarcoma

scientific article

Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

scientific article

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

scientific article

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

scientific article

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus

scientific article

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly

scientific article

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

scientific article

Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults

scientific article

Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer

scientific article

Somatic mutations of the protein kinase gene family in human lung cancer

scientific article published on September 2005

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes

scientific article

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

scientific article

Paulina is supported by:

About Paulina

Help