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Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups

American journal of medical genetics. Part A, 2016-09, Vol.170A (9), p.2248-2260

2016

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Beckwith–Wiedemann syndrome with multiple hepatic and cutaneous hemangiomas in a female patient of Albanian origin: Diagnostic and therapeutic considerations

American journal of medical genetics. Part A, 2024-01, Vol.194 (1), p.88-93

2024

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Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol

American journal of medical genetics. Part A, 2009-08, Vol.149A (8), p.1691-1697

2009

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Hepatoblastoma in molecularly defined, congenital diseases

American journal of medical genetics. Part A, 2022-09, Vol.188 (9), p.2527-2535

2022

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Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome

American journal of medical genetics. Part A, 2015-01, Vol.167A (1), p.151-155

2015

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Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability

American journal of medical genetics. Part A, 2022-07, Vol.188 (7), p.2209-2216

2022

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A novel mutation in CDKN1C in sibs with Beckwith–Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases

American journal of medical genetics. Part A, 2013-01, Vol.161 (1), p.192-197

2013

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Factors associated with preterm delivery in mothers of children with Beckwith-Wiedemann syndrome: A case cohort study from the BWS registry

American journal of medical genetics. Part A, 2005-04, Vol.134A (2), p.187-191

2005

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LIT1 and H19 methylation defects in isolated hemihyperplasia

American journal of medical genetics. Part A, 2005-04, Vol.134A (2), p.129-131

2005

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Congenital abnormalities and hepatoblastoma: A report from the Children's Oncology Group (COG) and the Utah Population Database (UPDB)

American journal of medical genetics. Part A, 2014-09, Vol.164A (9), p.2250-2255

2014

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Co‐occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: Modification of the Wolf–Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith–Wiedemann or Russell–Silver phenotype

American journal of medical genetics. Part A, 2008-10, Vol.146A (20), p.2691-2697

2008

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Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies

American journal of medical genetics. Part A, 2006-07, Vol.140A (14), p.1497-1503

2006

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Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation

American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2559-2569

2016

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Agenesis of the corpus callosum and hepatoblastoma

American journal of medical genetics. Part A, 2020-01, Vol.182 (1), p.224-228

2020

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High incidence of malformation syndromes in a series of 1,073 children with cancer

American journal of medical genetics. Part A, 2005-04, Vol.134A (2), p.132-143

2005

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Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome

American journal of medical genetics. Part A, 2014-06, Vol.164A (6), p.1595-1605

2014

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Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome

American journal of medical genetics. Part A, 2011-10, Vol.155 (10), p.2479-2483

2011

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Paternal duplication of the 11p15 centromeric imprinting control region is associated with increased expression of CDKN1C in a child with Russell-Silver syndrome

American journal of medical genetics. Part A, 2015-12, Vol.167A (12), p.3229-3233

2015

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Methylation profiling in individuals with Russell-Silver syndrome

American journal of medical genetics. Part A, 2010-02, Vol.152A (2), p.347-355

2010

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Wilms tumor in an 11-year-old with hemihyperplasia

American journal of medical genetics. Part A, 2005-12, Vol.139A (2), p.165-166

2005

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Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

American journal of medical genetics. Part A, 2017-04, Vol.173 (4), p.1017-1037

2017

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A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner Syndrome

American journal of medical genetics. Part A, 2015-09, Vol.167A (9), p.2182-2187

2015

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TFE3‐associated neurodevelopmental disorder: A distinct recognizable syndrome

American journal of medical genetics. Part A, 2020-03, Vol.182 (3), p.584-590

2020

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Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance

American journal of medical genetics. Part A, 2015-09, Vol.167A (9), p.2122-2131

2015

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Tatton‐Brown‐Rahman syndrome: Six individuals with novel features

American journal of medical genetics. Part A, 2020-04, Vol.182 (4), p.673-680

2020

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Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups

Beckwith–Wiedemann syndrome with multiple hepatic and cutaneous hemangiomas in a female patient of Albanian origin: Diagnostic and therapeutic considerations

Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol

Hepatoblastoma in molecularly defined, congenital diseases

Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome

Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability

A novel mutation in CDKN1C in sibs with Beckwith–Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases

Factors associated with preterm delivery in mothers of children with Beckwith-Wiedemann syndrome: A case cohort study from the BWS registry

LIT1 and H19 methylation defects in isolated hemihyperplasia

Congenital abnormalities and hepatoblastoma: A report from the Children's Oncology Group (COG) and the Utah Population Database (UPDB)

Co‐occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: Modification of the Wolf–Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith–Wiedemann or Russell–Silver phenotype

Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies

Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation

Agenesis of the corpus callosum and hepatoblastoma

High incidence of malformation syndromes in a series of 1,073 children with cancer

Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome

Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome

Paternal duplication of the 11p15 centromeric imprinting control region is associated with increased expression of CDKN1C in a child with Russell-Silver syndrome

Methylation profiling in individuals with Russell-Silver syndrome

Wilms tumor in an 11-year-old with hemihyperplasia

Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner Syndrome

TFE3‐associated neurodevelopmental disorder: A distinct recognizable syndrome

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance

Tatton‐Brown‐Rahman syndrome: Six individuals with novel features

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