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Development of disease-specific growth charts for Korean children with Beckwith-Wiedemann syndrome

Clinical genetics, 2024-05, Vol.105 (5), p.533-542

2024

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A novel de novo point mutation of the OCT-binding site in the IGF2/H19-imprinting control region in a Beckwith-Wiedemann syndrome patient

Clinical genetics, 2014-12, Vol.86 (6), p.539-544

2014

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Fetal growth patterns in Beckwith-Wiedemann syndrome

Clinical genetics, 2016-07, Vol.90 (1), p.21-27

2016

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Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene

Clinical genetics, 2013-07, Vol.84 (1), p.78-81

2013

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Isolated‐ and Beckwith‐Wiedemann syndrome related‐ lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals

Clinical genetics, 2021-09, Vol.100 (3), p.292-297

2021

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(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine

Clinical genetics, 2016-04, Vol.89 (4), p.403-415

2016

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Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth

Clinical genetics, 2013-10, Vol.84 (4), p.326-334

2013

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Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome

Clinical genetics, 2015-09, Vol.88 (3), p.261-266

2015

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Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases

Clinical genetics, 1994-08, Vol.46 (2), p.168-174

1994

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Beckwith-Wiedemann syndrome: first epigenetic confirmed case report in China

Clinical genetics, 2013-12, Vol.84 (6), p.603-604

2013

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DNA methylation studies on imprinted loci in a male monozygotic twin pair discordant for Beckwith-Wiedemann syndrome

Clinical genetics, 2011-06, Vol.79 (6), p.546-553

2011

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Genome-wide androgenetic mosaicism

Clinical genetics, 2014-03, Vol.85 (3), p.282-285

2014

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Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure

Clinical genetics, 2021-06, Vol.99 (6), p.823-828

2021

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Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes

Clinical genetics, 2012-04, Vol.81 (4), p.350-361

2012

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Inherited microdeletions that give rise to Beckwith-Wiedemann syndrome

Clinical genetics, 2005-04, Vol.67 (4), p.299-300

Kang, M

2005

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Chimera and other fertilization errors

Clinical genetics, 2006-11, Vol.70 (5), p.363-373

2006

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Clinical overlap of Beckwith‐Wiedemann, Perlman and Simpson‐Golabi‐Behmel syndromes: a diagnostic pitfall

Clinical genetics, 1995-05, Vol.47 (5), p.257-262

1995

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Clinical features in the Wiedemann-Beckwith syndrome

Clinical genetics, 1996-10, Vol.50 (4), p.272-274

Martinez, Roberto Martinezy

1996

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A possible relationship between Beckwith-Wiedemann syndrome, urinary tract anomaly and prune belly syndrome

Clinical genetics, 1990-12, Vol.38 (6), p.410-414

1990

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Deletion of chromosome 11 (p11p13) in a patient with Beckwith-Wiedemann syndrome

Clinical genetics, 1986-09, Vol.30 (3), p.154-156

Schmutz, Sheila M.

1986

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Is intensive follow-up for early detection of tumors effective in children with Beckwith-Wiedemann syndrome?

Clinical genetics, 1996-11, Vol.50 (5), p.372-374

1996

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Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues

Clinical genetics, 2011-07, Vol.80 (1), p.83-88

2011

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Overgrowth syndromes and genomic imprinting: from mouse to man

Clinical genetics, 1998-03, Vol.53 (3), p.165-170

1998

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Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith―Wiedemann and Silver―Russell syndromes : EPIGENETICS AND MEDICAL GENETICS - UNITED BY PURPOSE

Clinical genetics, 2012, Vol.81 (4), p.350-361

2012

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Developmental Biology: Frontiers for Clinical Genetics: Overgrowth syndromes and genomie imprinting: from mouse to man

Clinical genetics, 1998-03, Vol.53 (3), p.165-170

1998

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Development of disease-specific growth charts for Korean children with Beckwith-Wiedemann syndrome

A novel de novo point mutation of the OCT-binding site in the IGF2/H19-imprinting control region in a Beckwith-Wiedemann syndrome patient

Fetal growth patterns in Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene

Isolated‐ and Beckwith‐Wiedemann syndrome related‐ lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine

Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth

Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome

Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases

Beckwith-Wiedemann syndrome: first epigenetic confirmed case report in China

DNA methylation studies on imprinted loci in a male monozygotic twin pair discordant for Beckwith-Wiedemann syndrome

Genome-wide androgenetic mosaicism

Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure

Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes

Inherited microdeletions that give rise to Beckwith-Wiedemann syndrome

Chimera and other fertilization errors

Clinical overlap of Beckwith‐Wiedemann, Perlman and Simpson‐Golabi‐Behmel syndromes: a diagnostic pitfall

Clinical features in the Wiedemann-Beckwith syndrome

A possible relationship between Beckwith-Wiedemann syndrome, urinary tract anomaly and prune belly syndrome

Deletion of chromosome 11 (p11p13) in a patient with Beckwith-Wiedemann syndrome

Is intensive follow-up for early detection of tumors effective in children with Beckwith-Wiedemann syndrome?

Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues

Overgrowth syndromes and genomic imprinting: from mouse to man

Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith―Wiedemann and Silver―Russell syndromes : EPIGENETICS AND MEDICAL GENETICS - UNITED BY PURPOSE

Developmental Biology: Frontiers for Clinical Genetics: Overgrowth syndromes and genomie imprinting: from mouse to man

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