Recent Advances in Imprinting Disorders-Reference-Cited by-同舟云学术

Recent Advances in Imprinting Disorders

Published:2016-08-04 Issue:1 Volume:91 Page:3-13
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Soellner L.¹,Begemann M.¹,Mackay D.J.G.²,Grønskov K.³,Tümer Z.³,Maher E.R.⁴,Temple I.K.²,Monk D.⁵,Riccio A.⁶,Linglart A.⁷,Netchine I.⁸⁹¹⁰,Eggermann T.¹

Affiliation:

1. Department of Human Genetics; RWTH Aachen; Aachen Germany

2. Human Genetics and Genomic Medicine; Faculty of Medicine University of Southampton, Wessex Clinical Genetics Service, Princess Anne Hospital; Southampton UK

3. Clinical Genetic Clinic, Kennedy Center, Rigshospitalet; Copenhagen University Hospital; Glostrup Denmark

4. Department of Medical Genetics; University of Cambridge and NIHR Cambridge Biomedical Research Centre; Cambridge UK

5. Imprinting and Cancer Group, Cancer Epigenetic and Biology Program (PEBC), Institut d'Investigació Biomedica de Bellvitge (IDIBELL); Hospital Duran i Reynals; Barcelona Spain

6. DiSTABiF, Seconda Università degli Studi di Napoli, Caserta; Institute of Genetics and Biophysics - ABT, CNR; Napoli Italy

7. Endocrinology and Diabetology for Children and Reference Center for Rare Disorders of Calcium and Phosphorus Metabolism, Bicêtre Paris Sud, APHP; INSERM U986, INSERM; Le Kremlin-Bicêtre France

8. INSERM; CDR Saint-Antoine; Paris France

9. Sorbonne Universites, UPMC Univ Paris 06; Paris France

10. Pediatric Endocrinology; Armand Trousseau Hospital; Paris France

Funder

European Cooperation in Science and Technology

German Ministry of Research and Education

Network ‘Imprinting Diseases’

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12827/fullpdf

Reference68 articles.

1. Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci;Eggermann;Clin Epigenet,2015

2. Clinical utility gene card for: transient neonatal diabetes mellitus, 6q24-related;Mackay;Eur J Hum Genet,2014

3. Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome;Azzi;J Med Genet,2015

4. EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders - Silver-Russell and Beckwith-Wiedemann syndrome;Eggermann;Eur J Hum Genet,2016

5. Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases;Elliott;Clin Genet,1994

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