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Documents Common neonatal syndromes

doi:10.1016/j.siny.2005.02.003www.elsevierhealth.com/journals/siny KEYWORDS Fluorescence in situ hybridisation (FISH); Telomere; Uniparental disomy; Imprinting Summary The

Documents Prader-Willi syndrome

Prader-Willi syndromegenetest review ©American College of Medical Genetics 1Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco,

Documents Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome

Burçak Bilgin1, Serkan Kabaçam2, Ekim Takran3, Pelin Özlem imek-Kiper1, Yasemin Alanay1, Koray Bodurolu1, Gülen Eda Utine1 1Division of Pediatric

Documents Síndrome de Wiedemann-Beckwith: Análisis clínico-epidemiológico de una.....

Introducción El síndrome de Wiedemann-Beckwith (SWB) fue descrito independientemente por ambos autores en los años 1964 y 1963 respectivamente(1-2);

Documents Clinical and genetic aspects of Angelman syndrome

Clinical and genetic aspects of Angelman syndromeClinical and genetic aspects of Angelman syndrome Charles A. Williams, MD, Daniel J. Driscoll, MD, PhD, and Aditi I. Dagli,

Documents Maternal mutations of FOXF1 cause Alveolar capillary dysplasia despite not being imprinted

Maternal mutations of FOXF1 cause Alveolar capillary dysplasia despite not being imprinted Franck Court3, Isabel Gazquez Serrano1, Loreto Martorell4, Carlota Rovira Zurriaga5,

Documents Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome Wendy N Cooper1, Anita Luharia2, Gail A Evans1, Hussain Raza1, Antonita C Haire1, Richard

Documents Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects

RESEARCH Open Access Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects Abdulla Ibrahim1,2, Gail Kirby3, Carol Hardy4, Renuka P Dias3,

Documents Beckwith–Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi

KEPI_A_1057383_O1Division of Pathology; Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico; Department of Pathophysiology & Transplantation; Universita degli

Documents Are imprinting and inbreeding two related phenomena?

Are imprinting and inbreeding two related phenomena?Submitted on 1 Jan 1991 HAL is a multi-disciplinary open access archive for the deposit and dissemination of sci- entific