Search filters

List of works by Louise Harewood

'Crommelin-type' symmetrical tetramelic reduction deformity: a new case and breakpoint mapping of a reported case with de-novo t(2;12)(p25.1;q23.3).

scientific article

2q34-qter duplication and 4q34.2-qter deletion in a patient with developmental delay

scientific article published on 4 February 2012

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

scientific article

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

scientific article

A balanced reciprocal translocation in a case of hypomelanosis of Ito with confirmation of mosaicism using buccal cell interphase FISH

scientific article published on 01 May 2006

A diminutive chromosome 21 centromere in acute lymphoblastic leukemia

scientific article published on May 2006

Amplification of AML1 in acute lymphoblastic leukemia is associated with a poor outcome

scientific article published on 01 November 2003

Amplification of AML1 on a duplicated chromosome 21 in acute lymphoblastic leukemia: a study of 20 cases.

scientific article

Amplification of the ABL gene in T-cell acute lymphoblastic leukemia

article

Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations

scientific article

ETV6/AML1 fusion by FISH in adult acute lymphoblastic leukemia

scientific article

Esrrg functions in early branch generation of the ureteric bud and is essential for normal development of the renal papilla

scientific article published on 6 December 2010

FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality

FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality

scientific article published on 27 March 2008

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

scientific article

Hi-C as a tool for precise detection and characterisation of chromosomal rearrangements and copy number variation in human tumours

scientific article

Interphase molecular cytogenetic screening for chromosomal abnormalities of prognostic significance in childhood acute lymphoblastic leukaemia: a UK Cancer Cytogenetics Group Study.

scientific article

LINE retrotransposons characterize mammalian tissue-specific and evolutionarily dynamic regulatory regions

scientific article published on 18 February 2021

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

scientific article

Multifocal epithelial tumors and field cancerization from loss of mesenchymal CSL signaling

scientific article published on June 2012

NF-κB-Dependent Lymphoid Enhancer Co-option Promotes Renal Carcinoma Metastasis

scientific article published on 06 June 2018

Proteogenomics and Hi-C reveal transcriptional dysregulation in high hyperdiploid childhood acute lymphoblastic leukemia

scientific article published on 03 April 2019

Side effects of genome structural changes

scientific article published on 24 October 2007

Structural variation and its effect on expression

scientific article published in January 2012

Structural variation-associated expression changes are paralleled by chromatin architecture modifications

scientific article

The effect of translocation-induced nuclear reorganization on gene expression

scientific article

The impact of chromosomal rearrangements on regulation of gene expression

scientific article

Three further cases of t(8;14)(q11.2;q32) in acute lymphoblastic leukemia

scientific article published on 01 August 2001

Translocations of 14q32 and deletions of 13q14 are common chromosomal abnormalities in systemic amyloidosis

scientific article published on 01 May 2002