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List of works by Maureen O'Sullivan

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency

scientific article published on 26 May 2015

Cervial intraepithelial neoplasia III shows frequent allelic loss in 3p and 6p ⬇️

scientific article published on May 1, 1998

Characterization of the chromosomal translocation t(10;17)(q22;p13) in clear cell sarcoma of kidney

scientific article

Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome

scientific article published on 10 September 2016

Ewing sarcoma with novel translocation t(2;16) producing an in-frame fusion of FUS and FEV.

scientific article published on 9 July 2007

Familial Adenomatous Polyposis:From Bedside to Benchside ⬇️

scientific article published on May 1, 1998

Filaggrin mutations, atopic eczema, hay fever, and asthma in children

scientific article

Gain of 1q As a Prognostic Biomarker in Wilms Tumors (WTs) Treated With Preoperative Chemotherapy in the International Society of Paediatric Oncology (SIOP) WT 2001 Trial: A SIOP Renal Tumours Biology Consortium Study

scientific article

High-resolution genome-wide copy-number analyses identify localized copy-number alterations in Ewing sarcoma

scientific article published in June 2013

Mutations in the SIX1/2 pathway and the DROSHA/DGCR8 miRNA microprocessor complex underlie high-risk blastemal type Wilms tumors

scientific article published in February 2015

Mutually exclusive BCOR internal tandem duplications and YWHAE-NUTM2 fusions in clear cell sarcoma of kidney: not the full story

scientific article

Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation

scientific article

Rhabdomyosarcoma-Associated Renal Cell Carcinoma: A Link with Constitutional TP53 Mutation ⬇️

scientific article published on 05 November 2010

SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors ⬇️

scientific article published on November 23, 2012

TDP1 and PARP1 deficiency are cytotoxic to rhabdomyosarcoma cells

scientific article published on 2 August 2013

The E3 ligase HACE1 is a critical chromosome 6q21 tumor suppressor involved in multiple cancers

article

Undifferentiated Embryonal Sarcoma with Unusual Features Arising within Mesenchymal Hamartoma of the Liver: Report of a Case and Review of the Literature ⬇️

scientific article published on September 1, 2001

Visceral primitive peripheral neuroectodermal tumors: A clinicopathologic and molecular study ⬇️

scientific article published on October 1, 2001

Widespread dysregulation of MiRNAs by MYCN amplification and chromosomal imbalances in neuroblastoma: association of miRNA expression with survival

scientific article

Wilms Tumor Arising in Extracoelomic Paravertebral Soft Tissues ⬇️

scientific article published on 05 November 2010

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