Literature DB >> 15651076

LIT1 and H19 methylation defects in isolated hemihyperplasia.

Rick A Martin1, Dorothy K Grange, Babara Zehnbauer, Michael R Debaun.   

Abstract

We performed LIT1 and H19 methylation studies on 27 children with isolated hemihyperplasia (IH). Eight children (29.6%) had a defect in methylation of one or both of these alleles, supporting our hypothesis that these epigenetic changes can result in a phenotype distinct from typical Beckwith-Wiedemann syndrome. (c) 2005 Wiley-Liss, Inc.

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Year:  2005        PMID： 15651076     DOI： 10.1002/ajmg.a.30578

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  8 in total

1.  Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield.

Authors:  Jochen K Lennerz; Robert J Timmerman; Dorothy K Grange; Michael R DeBaun; Andrew P Feinberg; Barbara A Zehnbauer
Journal:  J Mol Diagn       Date:  2010-07-08       Impact factor: 5.568

2.  Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.

Authors:  Maria Francesca Bedeschi; Mariarosaria Calvello; Leda Paganini; Lidia Pezzani; Marco Baccarin; Laura Fontana; Silvia M Sirchia; Silvana Guerneri; Lorena Canazza; Ernesto Leva; Lorenzo Colombo; Faustina Lalatta; Fabio Mosca; Silvia Tabano; Monica Miozzo
Journal:  BMC Med Genet       Date:  2017-10-18       Impact factor: 2.103

Review 3.  Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour.

Authors:  R H Scott; C A Stiller; L Walker; N Rahman
Journal:  J Med Genet       Date:  2006-05-11       Impact factor: 6.318

4.  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

Review 5.  Beckwith-Wiedemann syndrome.

Authors:  Rosanna Weksberg; Cheryl Shuman; J Bruce Beckwith
Journal:  Eur J Hum Genet       Date:  2010-01       Impact factor: 4.246

Review 6.  Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

Authors:  Frédéric Brioude; Jennifer M Kalish; Alessandro Mussa; Alison C Foster; Jet Bliek; Giovanni Battista Ferrero; Susanne E Boonen; Trevor Cole; Robert Baker; Monica Bertoletti; Guido Cocchi; Carole Coze; Maurizio De Pellegrin; Khalid Hussain; Abdulla Ibrahim; Mark D Kilby; Malgorzata Krajewska-Walasek; Christian P Kratz; Edmund J Ladusans; Pablo Lapunzina; Yves Le Bouc; Saskia M Maas; Fiona Macdonald; Katrin Õunap; Licia Peruzzi; Sylvie Rossignol; Silvia Russo; Caroleen Shipster; Agata Skórka; Katrina Tatton-Brown; Jair Tenorio; Chiara Tortora; Karen Grønskov; Irène Netchine; Raoul C Hennekam; Dirk Prawitt; Zeynep Tümer; Thomas Eggermann; Deborah J G Mackay; Andrea Riccio; Eamonn R Maher
Journal:  Nat Rev Endocrinol       Date:  2018-01-29       Impact factor: 43.330

7.  Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia.

Authors:  Carol L Clericuzio; Rick A Martin
Journal:  Genet Med       Date:  2009-03       Impact factor: 8.822

8.  Guided Growth in Leg Length Discrepancy in Beckwith-Wiedemann Syndrome: A Consecutive Case Series.

Authors:  Maurizio De Pellegrin; Lorenzo Brogioni; Guy Laskow; Graziano Barera; Roberta Pajno; Sara Osimani; Silvia Russo; Lorenzo Marcucci
Journal:  Children (Basel)       Date:  2021-12-07
  8 in total

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