Royal Manchester Children's Hospital

Publications

Updated international consensus report on the investigation and management of primary immune thrombocytopenia

Drew Provan , Donald M. Arnold , James B. Bussel +19 more

Abstract Over the last decade, there have been numerous developments and changes in treatment practices for the management of patients with immune thrombocytopenia (ITP). This a...

2019 Blood Advances 981 citations

Heterozygous Germ Line <i>hCHK2</i> Mutations in Li-Fraumeni Syndrome

Daphne W. Bell , Jennifer M. Varley , Tara E. Szydlo +11 more

The hCHK2 gene encodes the human homolog of the yeast Cds1 and Rad53 G 2 checkpoint kinases, whose activation in response to DNA damage prevents cellular entry into mitosis. Her...

1999 Science 897 citations

Evidence that WT1 mutations in Denys — Drash syndrome patients may act in a dominant-negative fashion

Melissa H. Little , Kathleen A. Williamson , Marcel M. A. M. Mannens +4 more

The triad of nephropathy, partial gonadal dysgenesis and Wilms' tumour (WT) is known as Denys-Drash syndrome (DDS). The WT predisposition gene WT1, which plays a vital role in b...

1993 Human Molecular Genetics 163 citations

Institution Info

Type: healthcare
Country: GB
Publications: 3
Citations: 2,041

External Links

Identifiers

ROR: https://ror.org/052vjje65

Publications

Updated international consensus report on the investigation and management of primary immune thrombocytopenia

Heterozygous Germ Line <i>hCHK2</i> Mutations in Li-Fraumeni Syndrome

Evidence that WT1 mutations in Denys — Drash syndrome patients may act in a dominant-negative fashion

Affiliated Researchers

John D. Grainger

Anna Kelsey

Jillian M. Birch

Institution Info

External Links

Identifiers

Research Output Over Time