Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain ofDICER1cause GLOW syndrome

Molecular Mechanisms of Childhood Overgrowth

(2013) KATRINA TATTON-BROWN et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

DICER1 hotspot mutations in non-epithelial gonadal tumours

(2013) L Witkowski et al.   BRITISH JOURNAL OF CANCER

mir-125a-5p-Mediated Regulation of Lfng Is Essential for the Avian Segmentation Clock

(2013) Maurisa F. Riley et al.   DEVELOPMENTAL CELL

Beckwith-Wiedemann Syndrome: Growth Pattern and Tumor Risk according to Molecular Mechanism, and Guidelines for Tumor Surveillance

(2013) F. Brioude et al.   Hormone Research in Paediatrics

BiallelicDICER1mutations occur in Wilms tumours

(2013) MK Wu et al.   JOURNAL OF PATHOLOGY

Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria

(2013) R. Pilarski et al.   JNCI-Journal of the National Cancer Institute

A genomic view of mosaicism and human disease

(2013) Leslie G. Biesecker et al.   NATURE REVIEWS GENETICS

Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

(2012) Kyle C. Kurek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Strand-Specific miR-28-5p and miR-28-3p Have Distinct Effects in Colorectal Cancer Cells

(2012) Maria I. Almeida et al.   GASTROENTEROLOGY

Cancer-associated somaticDICER1hotspot mutations cause defective miRNA processing and reverse-strand expression bias to predominantly mature 3p strands through loss of 5p strand cleavage

(2012) MS Anglesio et al.   JOURNAL OF PATHOLOGY

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

DIANA miRPath v.2.0: investigating the combinatorial effect of microRNAs in pathways

(2012) Ioannis S. Vlachos et al.   NUCLEIC ACIDS RESEARCH

Ovarian sex cord-stromal tumors, pleuropulmonary blastoma and DICER1 mutations: A report from the International Pleuropulmonary Blastoma Registry

(2011) Kris Ann P. Schultz et al.   GYNECOLOGIC ONCOLOGY

A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes

(2011) Isabel Rodríguez-Escudero et al.   HUMAN MOLECULAR GENETICS

Extending the phenotypes associated withDICER1mutations

(2011) William D. Foulkes et al.   HUMAN MUTATION

DICER1 Mutations in Familial Multinodular Goiter With and Without Ovarian Sertoli-Leydig Cell Tumors

(2011) Thomas Rio Frio   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

(2011) I. Slade et al.   JOURNAL OF MEDICAL GENETICS

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

(2011) Marjorie J. Lindhurst et al.   NEW ENGLAND JOURNAL OF MEDICINE

Recurrent SomaticDICER1Mutations in Nonepithelial Ovarian Cancers

(2011) Alireza Heravi-Moussavi et al.   NEW ENGLAND JOURNAL OF MEDICINE

DICER1 Mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome

(2011) Leslie Doros et al.   PEDIATRIC BLOOD & CANCER

Overgrowth

(2010) C. F. Verge et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Germline DICER1 mutations and familial cystic nephroma

(2010) A. Bahubeshi et al.   JOURNAL OF MEDICAL GENETICS

DICER1 Mutations in Familial Pleuropulmonary Blastoma

(2009) D. A. Hill et al.   SCIENCE