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Lista de obras de 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).

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico

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.

artículo científico publicado en 2003

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

artículo científico publicado en 2010

ETV6/AML1 fusion by FISH in adult acute lymphoblastic leukemia

artículo científico publicado en 2002

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

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2005

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

artículo científico publicado en 2021

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2018

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

artículo científico publicado en 2019

Side effects of genome structural changes

artículo científico publicado en 2007

Structural variation and its effect on expression

artículo científico publicado en 2012

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

artículo científico publicado en 2013

The effect of translocation-induced nuclear reorganization on gene expression

artículo científico publicado en 2010

The impact of chromosomal rearrangements on regulation of gene expression

artículo científico publicado en 2014

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

artículo científico publicado en 2001

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

scientific article published on 01 May 2002

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