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Refractory postsurgical pyoderma gangrenosum in a patient with Beckwith Wiedemann syndrome: response to multimodal therapy

BMJ case reports, 2013-10, Vol.2013 (oct23 1), p.bcr2013201084-bcr2013201084

2013

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Multiple haemangiomas, diaphragmatic eventration and Beckwith-Wiedemann syndrome: an unusual association

BMJ case reports, 2013-08, Vol.2013 (aug20 1), p.bcr2013010077-bcr2013010077

2013

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The crying sign: the winking umbilical cord

BMJ case reports, 2015-03, Vol.2015 (mar27 2), p.bcr2015209695-bcr2015209695

2015

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Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes

Journal of medical genetics, 2014-04, Vol.51 (4), p.229-238

2014

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Beckwith-Wiedemann syndrome

Journal of medical genetics, 1992-09, Vol.29 (9), p.679-679

1992

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Mutation analysis of H19 and NAP1L4 (hNAP2) candidate genes and IGF2 DMR2 in Beckwith-Wiedemann syndrome

Journal of medical genetics, 2000-03, Vol.37 (3), p.212-215

2000

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A hypoglycaemic baby on the postnatal ward

BMJ (Online), 2010-10, Vol.341, p.c4626

Ray, Sagarika

2010

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Human diseases versus mouse models: insights into the regulation of genomic imprinting at the human 11p15/mouse distal chromosome 7 region

Journal of Medical Genetics, 2013-01, Vol.50 (1), p.11-20

2013

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Is maternal duplication of 11p15 associated with Silver-Russell syndrome?

Journal of medical genetics, 2005-05, Vol.42 (5), p.e26-e26

2005

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The importance of differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann syndromes

Journal of medical genetics, 1992-12, Vol.29 (12), p.928-928

1992

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Simpson-Golabi-Behmel syndrome and attention deficit hyperactivity disorder in two brothers

Journal of medical genetics, 1999-07, Vol.36 (7), p.574-576

1999

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Is p57KIP2 mutation a common mechanism for Beckwith-Wiedemann syndrome or somatic overgrowth?

Journal of medical genetics, 1998-01, Vol.35 (1), p.86-86

1998

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Blueberry muffin baby due to alveolar rhabdomyosarcoma with cutaneous metastasis

Archives of disease in childhood. Fetal and neonatal edition, 2010-11, Vol.95 (6), p.F461-F461

2010

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Raised somatomedin associated with normal growth hormone. A cause of Beckwith-Wiedemann syndrome?

Archives of disease in childhood, 1980-02, Vol.55 (2), p.151-153

1980

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Paternal uniparental disomy in monozygotic twins discordant for hemihypertrophy

Journal of medical genetics, 2003-03, Vol.40 (3), p.223-226

2003

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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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Somatomedin-c in the Beckwith-Wiedemann syndrome

Archives of disease in childhood, 1981-01, Vol.56 (1), p.77-78

1981

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Growing interest in overgrowth

Archives of disease in childhood, 1998-03, Vol.78 (3), p.200-204

COLE, TREVOR

1998

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Wiedemann-Beckwith syndrome in one of monozygotic twins

Archives of disease in childhood, 1986-07, Vol.61 (7), p.717-717

Brown, S

1986

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CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome

Journal of medical genetics, 2013-12, Vol.50 (12), p.823-830

2013

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Validation of DIGIROP models and decision support tool for prediction of treatment for retinopathy of prematurity on a contemporary Swedish cohort

British journal of ophthalmology, 2023-08, Vol.107 (8), p.1132

2023

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Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome

Journal of medical genetics, 2015-01, Vol.52 (1), p.53-60

2015

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Genomic imprinting as a cause of disease

BMJ (Online), 2003-11, Vol.327 (7424), p.1121

Clayton-Smith, Jill

International edition, 2003

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Placentomegaly and placental mesenchymal dysplasia

BMJ case reports, 2012-12, Vol.2012 (dec23 1), p.bcr2012007777-bcr2012007777

2012

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Physical and psychomotor development of 1799 children born after second trimester amniocentesis for maternal serum positive triple test screening and normal prenatal karyotype

Journal of medical genetics, 2002-12, Vol.39 (12), p.e75-75

2002

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Refractory postsurgical pyoderma gangrenosum in a patient with Beckwith Wiedemann syndrome: response to multimodal therapy

Multiple haemangiomas, diaphragmatic eventration and Beckwith-Wiedemann syndrome: an unusual association

The crying sign: the winking umbilical cord

Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes

Beckwith-Wiedemann syndrome

Mutation analysis of H19 and NAP1L4 (hNAP2) candidate genes and IGF2 DMR2 in Beckwith-Wiedemann syndrome

A hypoglycaemic baby on the postnatal ward

Human diseases versus mouse models: insights into the regulation of genomic imprinting at the human 11p15/mouse distal chromosome 7 region

Is maternal duplication of 11p15 associated with Silver-Russell syndrome?

The importance of differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann syndromes

Simpson-Golabi-Behmel syndrome and attention deficit hyperactivity disorder in two brothers

Is p57KIP2 mutation a common mechanism for Beckwith-Wiedemann syndrome or somatic overgrowth?

Blueberry muffin baby due to alveolar rhabdomyosarcoma with cutaneous metastasis

Raised somatomedin associated with normal growth hormone. A cause of Beckwith-Wiedemann syndrome?

Paternal uniparental disomy in monozygotic twins discordant for hemihypertrophy

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

Somatomedin-c in the Beckwith-Wiedemann syndrome

Growing interest in overgrowth

Wiedemann-Beckwith syndrome in one of monozygotic twins

CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome

Validation of DIGIROP models and decision support tool for prediction of treatment for retinopathy of prematurity on a contemporary Swedish cohort

Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome

Genomic imprinting as a cause of disease

Placentomegaly and placental mesenchymal dysplasia

Physical and psychomotor development of 1799 children born after second trimester amniocentesis for maternal serum positive triple test screening and normal prenatal karyotype

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