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Clinical utility gene card for: Beckwith-Wiedemann Syndrome

European journal of human genetics : EJHG, 2014-03, Vol.22 (3), p.435-435

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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EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2016-10, Vol.24 (10), p.1377-1387

2016

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Evidence for anticipation in Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2013-12, Vol.21 (12), p.1344-1348

2013

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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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Beckwith–Wiedemann syndrome with juvenile fibrous nodules and lobular breast tumors: a case report and review of the literature

Surgical case reports, 2024-03, Vol.10 (1), p.69-69

2024

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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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Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling

European journal of human genetics : EJHG, 2016-06, Vol.24 (6), p.784-793

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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Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome

Disease models & mechanisms, 2020-05, Vol.13 (5)

2020

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Epigenetic Alterations in Density Selected Human Spermatozoa for Assisted Reproduction

PloS one, 2015-12, Vol.10 (12), p.e0145585-e0145585

2015

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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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Overlapping phenotype of Wolf–Hirschhorn and Beckwith–Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)

American journal of medical genetics. Part A, 2007-08, Vol.143A (15), p.1760-1766

2007

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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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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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An 11p15 imprinting centre region 2 deletion in a family with Beckwith Wiedemann syndrome provides insights into imprinting control at CDKN1C

PloS one, 2011-12, Vol.6 (12), p.e29034

2011

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Anesthetic management of two cases of Beckwith-Wiedemann syndrome

Journal of anesthesia, 2008-02, Vol.22 (1), p.93-95

2008

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Beckwith-Wiedemann-Syndrom

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

2010

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Comprehensive meta-analysis reveals association between multiple imprinting disorders and conception by assisted reproductive technology

Journal of assisted reproduction and genetics, 2018-06, Vol.35 (6), p.943-952

2018

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Clinical utility gene card for: Beckwith-Wiedemann Syndrome

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

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome

Evidence for anticipation in Beckwith-Wiedemann syndrome

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

Beckwith–Wiedemann syndrome with juvenile fibrous nodules and lobular breast tumors: a case report and review of the literature

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

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling

Genomic imprinting disorders in humans: a mini-review

Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome

Epigenetic Alterations in Density Selected Human Spermatozoa for Assisted Reproduction

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

Overlapping phenotype of Wolf–Hirschhorn and Beckwith–Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)

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

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

The effectiveness of Wilms tumor screening in Beckwith–Wiedemann spectrum

An 11p15 imprinting centre region 2 deletion in a family with Beckwith Wiedemann syndrome provides insights into imprinting control at CDKN1C

Anesthetic management of two cases of Beckwith-Wiedemann syndrome

Beckwith-Wiedemann-Syndrom

Comprehensive meta-analysis reveals association between multiple imprinting disorders and conception by assisted reproductive technology

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