Literature DB >> 18700897

Segmental maternal UPD(7q) in Silver-Russell syndrome.

T Eggermann, N Schönherr, S Jäger, C Spaich, M B Ranke, H A Wollmann, G Binder.   

Abstract

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Year:  2008        PMID： 18700897     DOI： 10.1111/j.1399-0004.2008.01057.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  12 in total

Review 1.  New developments in Silver-Russell syndrome and implications for clinical practice.

Authors:  Miho Ishida
Journal:  Epigenomics       Date:  2016-04-12       Impact factor: 4.778

2.  Diagnosis and management of Silver-Russell syndrome: first international consensus statement.

Authors:  Emma L Wakeling; Frédéric Brioude; Oluwakemi Lokulo-Sodipe; Susan M O'Connell; Jennifer Salem; Jet Bliek; Ana P M Canton; Krystyna H Chrzanowska; Justin H Davies; Renuka P Dias; Béatrice Dubern; Miriam Elbracht; Eloise Giabicani; Adda Grimberg; Karen Grønskov; Anita C S Hokken-Koelega; Alexander A Jorge; Masayo Kagami; Agnes Linglart; Mohamad Maghnie; Klaus Mohnike; David Monk; Gudrun E Moore; Philip G Murray; Tsutomu Ogata; Isabelle Oliver Petit; Silvia Russo; Edith Said; Meropi Toumba; Zeynep Tümer; Gerhard Binder; Thomas Eggermann; Madeleine D Harbison; I Karen Temple; Deborah J G Mackay; Irène Netchine
Journal:  Nat Rev Endocrinol       Date:  2016-09-02       Impact factor: 43.330

Review 3.  Silver-Russell syndrome: genetic basis and molecular genetic testing.

Authors:  Thomas Eggermann; Matthias Begemann; Gerhard Binder; Sabrina Spengler
Journal:  Orphanet J Rare Dis       Date:  2010-06-23       Impact factor: 4.123

4.  Frequency and characterization of DNA methylation defects in children born SGA.

Authors:  Susanne Bens; Andrea Haake; Julia Richter; Judith Leohold; Julia Kolarova; Inga Vater; Felix G Riepe; Karin Buiting; Thomas Eggermann; Gabriele Gillessen-Kaesbach; Konrad Platzer; Dirk Prawitt; Almuth Caliebe; Reiner Siebert
Journal:  Eur J Hum Genet       Date:  2012-12-12       Impact factor: 4.246

5.  Isolated Hypomethylation of IGF2 Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment.

Authors:  Sarah C Grünert; Uta Matysiak; Franka Hodde; Gunda Ruzaike; Ekkehart Lausch; Anke Schumann; Natascha van der Werf-Grohmann; Ute Spiekerkoetter; Miriam Schmidts
Journal:  Diagnostics (Basel)       Date:  2021-04-22

6.  Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction.

Authors:  Sandra Chantot-Bastaraud; Svea Stratmann; Frédéric Brioude; Matthias Begemann; Miriam Elbracht; Luitgard Graul-Neumann; Madeleine Harbison; Irène Netchine; Thomas Eggermann
Journal:  Mol Cytogenet       Date:  2017-07-25       Impact factor: 2.009

7.  EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

Authors:  Katja Eggermann; Jet Bliek; Frédéric Brioude; Elizabeth Algar; Karin Buiting; Silvia Russo; Zeynep Tümer; David Monk; Gudrun Moore; Thalia Antoniadi; Fiona Macdonald; Irène Netchine; Paolo Lombardi; Lukas Soellner; Matthias Begemann; Dirk Prawitt; Eamonn R Maher; Marcel Mannens; Andrea Riccio; Rosanna Weksberg; Pablo Lapunzina; Karen Grønskov; Deborah Jg Mackay; Thomas Eggermann
Journal:  Eur J Hum Genet       Date:  2016-05-11       Impact factor: 4.246

8.  Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.

Authors:  Tomoko Fuke; Seiji Mizuno; Toshiro Nagai; Tomonobu Hasegawa; Reiko Horikawa; Yoko Miyoshi; Koji Muroya; Tatsuro Kondoh; Chikahiko Numakura; Seiji Sato; Kazuhiko Nakabayashi; Chiharu Tayama; Kenichiro Hata; Shinichiro Sano; Keiko Matsubara; Masayo Kagami; Kazuki Yamazawa; Tsutomu Ogata
Journal:  PLoS One       Date:  2013-03-22       Impact factor: 3.240

9.  Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7.

Authors:  Katariina Hannula-Jouppi; Mari Muurinen; Marita Lipsanen-Nyman; Lovisa E Reinius; Sini Ezer; Dario Greco; Juha Kere
Journal:  Epigenetics       Date:  2013-11-18       Impact factor: 4.528

10.  Mosaic UPD(7q)mat in a patient with silver Russell syndrome.

Authors:  Jiasun Su; Jin Wang; Xin Fan; Chunyun Fu; ShuJie Zhang; Yue Zhang; Zailong Qin; Hongdou Li; Jingsi Luo; Chuan Li; Tingting Jiang; Yiping Shen
Journal:  Mol Cytogenet       Date:  2017-10-17       Impact factor: 2.009
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