Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith–Wiedemann spectrum features (original) (raw)

Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.

Paul Schofield

Journal of medical …, 1994

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Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: Diagnostic and management issues

Cheryl Cytrynbaum

American Journal of Medical Genetics Part A, 2013

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Mosaic paternal uniparental isodisomy of 15q11-q13 region causing Angelman phenotype

Surya Balakrishnan

Clinical Dysmorphology, 2019

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Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases

Gyurgyinka Gergev

Molecular cytogenetics, 2013

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Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome

Sanaa Choufani

2021

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Different Mechanisms and Recurrence Risks of Imprinting Defects in Angelman Syndrome

K. Buiting

The American Journal of Human Genetics, 1997

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Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome

Raj Ramesar

Journal of Medical Genetics, 1992

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Paternal UPD15: Further genetic and clinical studies in four Angelman syndrome patients

Monica Varela

American Journal of Medical Genetics, 2000

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Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

Klaus Brusgaard

European Journal of Medical Genetics, 2019

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Methylation pattern at the KvDMR in a child with Beckwith–Wiedemann syndrome conceived by ICSI

Clarissa Gomes

American Journal of Medical Genetics Part A, 2007

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Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome

Oana Caluseriu

Human Molecular Genetics, 2002

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Book Review: Genomic Imprinting and Uniparental Disomy: Clinical and Molecular Aspects. By Eric Engel and Stylianos E. Antonarakis. Wiley-Liss, John Wiley and Sons, New York, 2002, 285 pp., $99.95 (hardback)

Stylianos Antonarakis

2003

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Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15

Carmen Andrea Alvarado Orellana

Journal of Inherited Metabolic Disease, 2009

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Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome

Celia Koiffmann

American Journal of Medical Genetics, 2000

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Disruption of the Bipartite Imprinting Center in a Family with Angelman Syndrome

Karin Buiting

The American Journal of Human Genetics, 2001

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Molecular Mechanism of Angelman Syndrome in Two Large Families Involves an Imprinting Mutation

Karin Buiting

The American Journal of Human Genetics, 1999

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Paternal UPD14 is responsible for a distinctive malformation complex

Hiroyuki Sasaki

American Journal of Medical Genetics, 2002

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Fertility in Prader-Willi syndrome: a case report with Angelman syndrome in the offspring

Karen Brøndum-nielsen

Acta Paediatrica, 2007

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Somatic and germ-line mosaicism of deletion 15q11.2-q13 in a mother of dyzigotic twins with Angelman syndrome

Marcos Madruga

American Journal of Medical Genetics Part A, 2014

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Epimutations in Prader-Willi and Angelman Syndromes: A Molecular Study of 136 Patients with an Imprinting Defect

K. Buiting

The American Journal of Human Genetics, 2003

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Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR

Karin Buiting, Alma Kuechler

American Journal of Medical Genetics Part A, 2006

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Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15

Montserrat Milà

Journal of Medical Genetics, 2002

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The two-domain hypothesis in Beckwith-Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster

Wolf Reik

Human Molecular Genetics, 2004

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Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q

Monica Varela

Clinical Genetics, 1998

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The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: Two new reports

Elizabeth Algar

American Journal of Medical Genetics Part A, 2008

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Maternal uniparental isodisomy (iUPD) of chromosome 4 in a subject with mild intellectual disability and speech delay

Orazio Palumbo

American Journal of Medical Genetics Part A, 2015

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