Literature DB >> 19550435

Beckwith-Wiedemann syndrome.

Rosanna Weksberg1, Cheryl Shuman, J Bruce Beckwith.   

Abstract

Beckwith-Wiedemann syndrome (BWS) is a model disorder for the study of imprinting, growth dysregulation, and tumorigenesis. Unique observations in this disorder point to an important embryonic developmental window relevant to the observations of increased monozygotic twinning and an increased rate of epigenetic errors after subfertility/assisted reproduction.

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Year:  2010        PMID： 19550435      PMCID： PMC2987155          DOI： 10.1038/ejhg.2009.106

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  54 in total

1.  [FAMILIAL MALFORMATION COMPLEX WITH UMBILICAL HERNIA AND MACROGLOSSIA--A "NEW SYNDROME"?].

Authors:  H R WIEDEMANN
Journal:  J Genet Hum       Date:  1964-09

2.  Renal findings on radiological followup of patients with Beckwith-Wiedemann syndrome.

Authors:  J G Borer; M Kaefer; C E Barnewolt; E R Elias; N Hobbs; A B Retik; C A Peters
Journal:  J Urol       Date:  1999-01       Impact factor: 7.450

3.  Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome.

Authors:  M P Lee; M DeBaun; G Randhawa; B A Reichard; S J Elledge; A P Feinberg
Journal:  Am J Hum Genet       Date:  1997-08       Impact factor: 11.025

Review 4.  Nephrogenic rests and the pathogenesis of Wilms tumor: developmental and clinical considerations.

Authors:  J B Beckwith
Journal:  Am J Med Genet       Date:  1998-10-02

5.  A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome.

Authors:  N J Smilinich; C D Day; G V Fitzpatrick; G M Caldwell; A C Lossie; P R Cooper; A C Smallwood; J A Joyce; P N Schofield; W Reik; R D Nicholls; R Weksberg; D J Driscoll; E R Maher; T B Shows; M J Higgins
Journal:  Proc Natl Acad Sci U S A       Date:  1999-07-06       Impact factor: 11.205

6.  Factors affecting the risk of contralateral Wilms tumor development: a report from the National Wilms Tumor Study Group.

Authors:  M J Coppes; M Arnold; J B Beckwith; M L Ritchey; G J D'Angio; D M Green; N E Breslow
Journal:  Cancer       Date:  1999-04-01       Impact factor: 6.860

7.  Serum alpha-fetoprotein levels in Beckwith-Wiedemann syndrome.

Authors:  D B Everman; C Shuman; B Dzolganovski; M A O'riordan; R Weksberg; N H Robin
Journal:  J Pediatr       Date:  2000-07       Impact factor: 4.406

8.  Nephromegaly in infancy and early childhood: a risk factor for Wilms tumor in Beckwith-Wiedemann syndrome.

Authors:  M R DeBaun; M J Siegel; P L Choyke
Journal:  J Pediatr       Date:  1998-03       Impact factor: 4.406

Review 9.  Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.

Authors:  A Slavotinek; L Gaunt; D Donnai
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

10.  Nonmalignant renal disease in pediatric patients with Beckwith-Wiedemann syndrome.

Authors:  P L Choyke; M J Siegel; O Oz; C Sotelo-Avila; M R DeBaun
Journal:  AJR Am J Roentgenol       Date:  1998-09       Impact factor: 3.959
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  160 in total

Review 1.  Close yet so far away: a look into the management strategies of genetic imprinting disorders.

Authors:  Mark A Pianka; Alec T McIntosh; Sahaj D Patel; Pegah R Bakhshi; Mira Jung
Journal:  Am J Stem Cells       Date:  2018-10-01

2.  Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome.

Authors:  Alessandro Mussa; Licia Peruzzi; Nicoletta Chiesa; Agostina De Crescenzo; Silvia Russo; Daniela Melis; Luigi Tarani; Giuseppina Baldassarre; Lidia Larizza; Andrea Riccio; Margherita Silengo; Giovanni Battista Ferrero
Journal:  Pediatr Nephrol       Date:  2011-10-21       Impact factor: 3.714

Review 3.  Adrenocortical stem and progenitor cells: implications for adrenocortical carcinoma.

Authors:  Derek P Simon; Gary D Hammer
Journal:  Mol Cell Endocrinol       Date:  2012-01-13       Impact factor: 4.102

4.  The extent of DNA methylation anticipation due to a genetic defect in ICR1 in Beckwith-Wiedemann syndrome.

Authors:  Feifei Sun; Ken Higashimoto; Atsuko Awaji; Kenji Ohishi; Naoto Nishizaki; Yuka Tanoue; Saori Aoki; Hidetaka Watanabe; Hitomi Yatsuki; Hidenobu Soejima
Journal:  J Hum Genet       Date:  2019-06-24       Impact factor: 3.172

Review 5.  The placental imprintome and imprinted gene function in the trophoblast glycogen cell lineage.

Authors:  Louis Lefebvre
Journal:  Reprod Biomed Online       Date:  2012-04-04       Impact factor: 3.828

6.  Clinical utility gene card for: Beckwith-Wiedemann Syndrome.

Authors:  Thomas Eggermann; Elizabeth Algar; Pablo Lapunzina; Deborah Mackay; Eamonn R Maher; Marcel Mannens; Irène Netchine; Dirk Prawitt; Andrea Riccio; I Karen Temple; Rosanna Weksberg
Journal:  Eur J Hum Genet       Date:  2013-07-03       Impact factor: 4.246

7.  Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.

Authors:  Jennifer M Kalish; Laura K Conlin; Tricia R Bhatti; Holly A Dubbs; Mary Catherine Harris; Kosuke Izumi; Sogol Mostoufi-Moab; Surabhi Mulchandani; Sulagna Saitta; Lisa J States; Daniel T Swarr; Alisha B Wilkens; Elaine H Zackai; Kristin Zelley; Marisa S Bartolomei; Kim E Nichols; Andrew A Palladino; Nancy B Spinner; Matthew A Deardorff
Journal:  Am J Med Genet A       Date:  2013-06-26       Impact factor: 2.802

8.  Abnormal DNA Methylation of Imprinted Loci in Human Preimplantation Embryos.

Authors:  Xiaoyun Shi; Shiling Chen; Haiyan Zheng; Lele Wang; Yaqin Wu
Journal:  Reprod Sci       Date:  2014-01-09       Impact factor: 3.060

9.  Maternal Hypomethylation of KvDMR in a Monozygotic Male Twin Pair Discordant for Beckwith-Wiedemann Syndrome.

Authors:  S C Elalaoui; I Garin; A Sefiani; G Perez de Nanclares
Journal:  Mol Syndromol       Date:  2013-11-30

10.  Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy.

Authors:  Jennifer M Kalish; Laura K Conlin; Sogol Mostoufi-Moab; Alisha B Wilkens; Surabhi Mulchandani; Kristin Zelley; Megan Kowalski; Tricia R Bhatti; Pierre Russo; Peter Mattei; William G Mackenzie; Virginia LiVolsi; Kim E Nichols; Jaclyn A Biegel; Nancy B Spinner; Matthew A Deardorff
Journal:  Am J Med Genet A       Date:  2013-03-26       Impact factor: 2.802
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