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Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome

Journal of medical genetics, 2016-01, Vol.53 (1), p.53-61

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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Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1

Human molecular genetics, 2001-12, Vol.10 (26), p.2989-3000

2001

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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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Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2001-06, Vol.9 (6), p.409-418

2001

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Acute lymphocytic leukaemia in a child with Beckwith–Wiedemann syndrome harbouring a CDKN1C mutation

European journal of medical genetics, 2010-11, Vol.53 (6), p.400-403

2010

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The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype

Clinical epigenetics, 2019-12, Vol.11 (1), p.190-190, Article 190

2019

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Genomic imprinting and Beckwith-Wiedemann syndrome

Histology and histopathology, 2000-01, Vol.15 (1), p.309

2000

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Assessment of p57(KIP2) gene mutation in Beckwith-Wiedemann syndrome

Hormone research, 2000, Vol.54 (1), p.1-5

2000

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Epigenetic anomalies in childhood growth disorders

Nestle Nutrition Institute workshop series, 2013, Vol.71, p.65

2013

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Epigenetic abnormalities of the mannose-6-phosphate/IGF2 receptor gene are uncommon in human overgrowth syndromes

Journal of medical genetics, 2004-01, Vol.41 (1), p.e4-4

2004

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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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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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Ovarian Fibromatosis and Sotos Syndrome with a New Genetic Mutation

Journal of pediatric & adolescent gynecology, 2013-04, Vol.26 (2), p.e39-e41

2013

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Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas

European journal of human genetics : EJHG, 2013-07, Vol.21 (7), p.784-787

2013

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Hyperinsulinaemic hypoglycaemia—an overview of a complex clinical condition

European journal of pediatrics, 2019-08, Vol.178 (8), p.1151-1160

2019

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Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset β-thalassemia major

Haematologica (Roma), 2013-05, Vol.98 (5), p.691-695

2013

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High Frequency of Germline p53 Mutations in Childhood Adrenocortical Cancer

JNCI : Journal of the National Cancer Institute, 1994-11, Vol.86 (22), p.1707-1710

1994

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Letter: Autosomal-dominant sex-dependent transmission of the Wiedemann-Beckwith syndrome

The Lancet (British edition), 1974-05, Vol.1 (7863), p.932-932

1974

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Sporadic childhood hepatoblastomas show activation of beta-catenin, mismatch repair defects and p53 mutations

Modern pathology, 2008-01, Vol.21 (1), p.7-14

2008

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Sonographic screening for Wilms tumor in children with CLOVES syndrome

Pediatric blood & cancer, 2017-12, Vol.64 (12), p.n/a

2017

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Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome

Journal of medical genetics, 2021-06, Vol.58 (6), p.422

2021

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Complex Tissue-Specific Epigenotypes in Russell-Silver Syndrome Associated with 11p15 ICR1 Hypomethylation

Human mutation, 2014-10, Vol.35 (10), p.1211-1220

2014

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Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management

The Journal of pediatrics, 2017-08, Vol.187, p.206-212.e1

2017

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Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome

Evidence for anticipation in Beckwith-Wiedemann syndrome

Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations

Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1

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

Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome

Acute lymphocytic leukaemia in a child with Beckwith–Wiedemann syndrome harbouring a CDKN1C mutation

The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype

Genomic imprinting and Beckwith-Wiedemann syndrome

Assessment of p57(KIP2) gene mutation in Beckwith-Wiedemann syndrome

Epigenetic anomalies in childhood growth disorders

Epigenetic abnormalities of the mannose-6-phosphate/IGF2 receptor gene are uncommon in human overgrowth syndromes

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

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

Ovarian Fibromatosis and Sotos Syndrome with a New Genetic Mutation

Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas

Hyperinsulinaemic hypoglycaemia—an overview of a complex clinical condition

Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset β-thalassemia major

High Frequency of Germline p53 Mutations in Childhood Adrenocortical Cancer

Letter: Autosomal-dominant sex-dependent transmission of the Wiedemann-Beckwith syndrome

Sporadic childhood hepatoblastomas show activation of beta-catenin, mismatch repair defects and p53 mutations

Sonographic screening for Wilms tumor in children with CLOVES syndrome

Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome

Complex Tissue-Specific Epigenotypes in Russell-Silver Syndrome Associated with 11p15 ICR1 Hypomethylation

Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management

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