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Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2010-01, Vol.18 (1), p.8-14

2010

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Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2 H19-imprinting control region, ICR1

European journal of human genetics : EJHG, 2012-02, Vol.20 (2), p.240-243

2012

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The epigenetic imprinting defect of patients with Beckwith—Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region

Journal of medical genetics, 2006-12, Vol.43 (12), p.902-907

2006

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Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

European journal of human genetics : EJHG, 2011-04, Vol.19 (4), p.416-421

2011

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CDKN1C (p57Kip2) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms

American journal of medical genetics. Part A, 2010-06, Vol.152A (6), p.1390-1397

2010

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Brain abnormalities in patients with Beckwith-Wiedemann syndrome

American journal of medical genetics. Part A, 2012-06, Vol.158A (6), p.1388-1394

2012

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Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome

Trends in genetics, 2008-04, Vol.24 (4), p.195-204

2008

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Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith–Wiedemann syndrome and Wilms' tumour

Human molecular genetics, 2008-05, Vol.17 (10), p.1427-1435

2008

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Surgical treatment of macroglossia in patients with Beckwith–Wiedemann syndrome: a 20-year experience and review of the literature

International journal of oral and maxillofacial surgery, 2012-03, Vol.41 (3), p.300-308

2012

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Clinical and molecular genetic features of Beckwith–Wiedemann syndrome associated with assisted reproductive technologies

Human reproduction (Oxford), 2009-03, Vol.24 (3), p.741-747

2009

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Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation

American journal of medical genetics. Part A, 2012-07, Vol.158A (7), p.1662-1669

2012

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Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2009-05, Vol.17 (5), p.611-619

2009

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Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2005-09, Vol.13 (9), p.1025-1032

2005

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Sleep‐disordered breathing in Beckwith–Wiedemann syndrome: Three patients

American journal of medical genetics. Part A, 2012-11, Vol.158A (11), p.2956-2958

2012

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Beckwith-Wiedemann Syndrome and Juvenile Fibroadenoma: A Case Report

Annals of plastic surgery, 2010-06, Vol.64 (6), p.803-806

2010

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Association of In Vitro Fertilization with Beckwith-Wiedemann Syndrome and Epigenetic Alterations of LIT1 and H19

American journal of human genetics, 2003-01, Vol.72 (1), p.156-160

2003

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Aberrant methylation of H19‐DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith–Wiedemann syndrome

American journal of medical genetics. Part A, 2012-07, Vol.158A (7), p.1670-1675

2012

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Japanese and North American European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations

European journal of human genetics : EJHG, 2007-12, Vol.15 (12), p.1205-1210

2007

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Beckwith-Wiedemann syndrome in a child with Chiari I malformation. Case report

Journal of neurosurgery, 2005-08, Vol.103 (2 Suppl), p.172

2005

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Association between Beckwith-Wiedemann syndrome and assisted reproductive technology: A case series of 19 patients

Fertility and sterility, 2005-02, Vol.83 (2), p.349-354

2005

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Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith–Wiedemann syndrome

Human molecular genetics, 2002-05, Vol.11 (11), p.1317-1325

2002

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Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

Human molecular genetics, 2007-02, Vol.16 (3), p.254-264

2007

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Pseudo-partial moles: placental stem vessel hydrops and the association with Beckwith-Wiedemann syndrome and complete moles

Histopathology, 2001-11, Vol.39 (5), p.447-454

2001

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Imprinting mutations in the Beckwith—Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2–H19 domain

Human molecular genetics, 1995-12, Vol.4 (12), p.2379-2385

1995

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Beckwith-Wiedemann syndrome in adults: Observations from one family and recommendations for care

American journal of medical genetics. Part A, 2008-07, Vol.146A (13), p.1707-1712

2008

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Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2 H19-imprinting control region, ICR1

The epigenetic imprinting defect of patients with Beckwith—Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region

Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

CDKN1C (p57Kip2) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms

Brain abnormalities in patients with Beckwith-Wiedemann syndrome

Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith–Wiedemann syndrome and Wilms' tumour

Surgical treatment of macroglossia in patients with Beckwith–Wiedemann syndrome: a 20-year experience and review of the literature

Clinical and molecular genetic features of Beckwith–Wiedemann syndrome associated with assisted reproductive technologies

Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome

Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome

Sleep‐disordered breathing in Beckwith–Wiedemann syndrome: Three patients

Beckwith-Wiedemann Syndrome and Juvenile Fibroadenoma: A Case Report

Association of In Vitro Fertilization with Beckwith-Wiedemann Syndrome and Epigenetic Alterations of LIT1 and H19

Aberrant methylation of H19‐DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith–Wiedemann syndrome

Japanese and North American European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations

Beckwith-Wiedemann syndrome in a child with Chiari I malformation. Case report

Association between Beckwith-Wiedemann syndrome and assisted reproductive technology: A case series of 19 patients

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith–Wiedemann syndrome

Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

Pseudo-partial moles: placental stem vessel hydrops and the association with Beckwith-Wiedemann syndrome and complete moles

Imprinting mutations in the Beckwith—Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2–H19 domain

Beckwith-Wiedemann syndrome in adults: Observations from one family and recommendations for care

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