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High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith–Wiedemann syndrome

Human genetics, 2014-03, Vol.133 (3), p.321-330

2014

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Beckwith–Wiedemann syndrome and Chiari I malformation—a case-based review of central nervous system involvement in hemihypertrophy syndromes

Child's nervous system, 2015-05, Vol.31 (5), p.637-641

2015

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Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives

Journal of genetic counseling, 2018-08, Vol.27 (4), p.844-853

2018

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Glioblastoma in Beckwith-Wiedemann syndrome: first case report and review of potential pathomechanisms

Acta neurochirurgica, 2022-02, Vol.164 (2), p.419-422

2022

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Nephrological findings and genotype–phenotype correlation in Beckwith–Wiedemann syndrome

Pediatric nephrology (Berlin, West), 2012-03, Vol.27 (3), p.397-406

2012

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Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome

Journal of assisted reproduction and genetics, 2018-06, Vol.35 (6), p.985-992

2018

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Epigenetic Abnormalities of 11p15.5 Region in Beckwith-Wiedemann Syndrome - A Report of Eight Indian Cases

Indian journal of pediatrics, 2020-03, Vol.87 (3), p.175-178

2020

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Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith–Wiedemann syndrome

European journal of pediatrics, 2011-11, Vol.170 (11), p.1407-1411

2011

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Spinal adrenal cortical adenoma associated with Beckwith-Wiedemann syndrome: case report and review of the literature

Child's nervous system, 2017-06, Vol.33 (6), p.1009-1013

2017

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Decreased CDKN1C Expression in Congenital Alveolar Rhabdomyosarcoma Associated with Beckwith-Wiedemann Syndrome

Indian journal of pediatrics, 2016-11, Vol.83 (12-13), p.1476-1478

2016

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Genomic imprinting disorders in humans: a mini-review

Journal of assisted reproduction and genetics, 2009-10, Vol.26 (9-10), p.477-486

Butler, Merlin G.

2009

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Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus

Human genetics, 2006-03, Vol.119 (1-2), p.179-184

2006

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Educational paper: Screening in cancer predisposition syndromes: guidelines for the general pediatrician

European journal of pediatrics, 2011-03, Vol.170 (3), p.285-294

2011

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3-D ultrasound imaging of a prenatally diagnosed Beckwith–Wiedemann syndrome

Archives of gynecology and obstetrics, 2011-10, Vol.284 (4), p.1051-1052

2011

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First case report of a successful delivery of a healthy boy by preimplantation genetic testing for Beckwith-Wiedemann syndrome

Journal of assisted reproduction and genetics, 2024-06

2024

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The 5' end of the KCNQ10T1 gene is hypomethylated in the Beckwith-Wiedemann syndrome

Human genetics, 2002-07, Vol.111 (1), p.105-107

2002

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Assisted reproduction techniques and prenatal diagnosis of Beckwith–Wiedemann spectrum presenting with omphalocele

Journal of assisted reproduction and genetics, 2018-10, Vol.35 (10), p.1925-1926

2018

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Beckwith-Wiedemann-Syndrom

Medizinische Genetik, 2010-12, Vol.22 (4), p.399-404

2010

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The 5' end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome

Human genetics, 2002-07, Vol.111 (1), p.105-107

2002

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Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing

Journal of molecular medicine (Berlin, Germany), 2014-07, Vol.92 (7), p.769-777

2014

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The effectiveness of Wilms tumor screening in Beckwith–Wiedemann spectrum

Journal of cancer research and clinical oncology, 2019-12, Vol.145 (12), p.3115-3123

2019

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Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important

Journal of molecular medicine (Berlin, Germany), 2020-10, Vol.98 (10), p.1447-1455

2020

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Focal nodular hyperplasia in a child with Beckwith-Wiedemann syndrome

Pediatric surgery international, 2005-09, Vol.21 (9), p.742-744

2005

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Dentoskeletal features and growth pattern in Beckwith-Wiedemann spectrum: is surgical tongue reduction always necessary?

Clinical oral investigations, 2023-08, Vol.27 (8), p.4271-4277

2023

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Beckwith-Wiedemann syndrome and bilateral adrenal pheochromocytoma: sonography and MRI findings

Pediatric radiology, 2005-11, Vol.35 (11), p.1132-1134

2005

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High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith–Wiedemann syndrome

Beckwith–Wiedemann syndrome and Chiari I malformation—a case-based review of central nervous system involvement in hemihypertrophy syndromes

Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives

Glioblastoma in Beckwith-Wiedemann syndrome: first case report and review of potential pathomechanisms

Nephrological findings and genotype–phenotype correlation in Beckwith–Wiedemann syndrome

Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome

Epigenetic Abnormalities of 11p15.5 Region in Beckwith-Wiedemann Syndrome - A Report of Eight Indian Cases

Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith–Wiedemann syndrome

Spinal adrenal cortical adenoma associated with Beckwith-Wiedemann syndrome: case report and review of the literature

Decreased CDKN1C Expression in Congenital Alveolar Rhabdomyosarcoma Associated with Beckwith-Wiedemann Syndrome

Genomic imprinting disorders in humans: a mini-review

Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus

Educational paper: Screening in cancer predisposition syndromes: guidelines for the general pediatrician

3-D ultrasound imaging of a prenatally diagnosed Beckwith–Wiedemann syndrome

First case report of a successful delivery of a healthy boy by preimplantation genetic testing for Beckwith-Wiedemann syndrome

The 5' end of the KCNQ10T1 gene is hypomethylated in the Beckwith-Wiedemann syndrome

Assisted reproduction techniques and prenatal diagnosis of Beckwith–Wiedemann spectrum presenting with omphalocele

Beckwith-Wiedemann-Syndrom

The 5' end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome

Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing

The effectiveness of Wilms tumor screening in Beckwith–Wiedemann spectrum

Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important

Focal nodular hyperplasia in a child with Beckwith-Wiedemann syndrome

Dentoskeletal features and growth pattern in Beckwith-Wiedemann spectrum: is surgical tongue reduction always necessary?

Beckwith-Wiedemann syndrome and bilateral adrenal pheochromocytoma: sonography and MRI findings

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