Mutation analysis of H19 and NAP1L4 (hNAP2) candidate genes and IGF2 DMR2 in Beckwith-Wiedemann syndrome

被引：12

作者：

Catchpoole, D

Smallwood, AV

Joyce, JA

Murrell, A

Lam, W

Tang, T

Munroe, D

Reik, W

Schofield, PN

Maher, ER ^{[1
]}

机构：

[1] Univ Birmingham, Dept Paediat & Child Hlth, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

[2] Univ Cambridge, Dept Pathol, Cambridge CB2 1QP, England

[3] Univ Cambridge, Dept Anat, Lab Stem Cell Biol, Cambridge, England

[4] Babraham Inst, Lab Dev Genet & Imprinting, Cambridge, England

[5] Genos Biosci, La Jolla, CA 92037 USA

来源：

JOURNAL OF MEDICAL GENETICS | 2000年 / 37卷 / 03期

关键词：

D O I：

10.1136/jmg.37.3.212

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：212 / 215

页数：4

共 39 条

[21] Investigation of Mutations in H19, IGF2, CDKN1C, KCNQ1, and NSD1 Genes in Iranian Children Suspected of Silver-Russell Syndrome (SRS) and Beckwith-Wiedemann Syndrome (BWS) with MS-MLPA [J].

Esfahani, Mohammad A. ;

Eslami, Maryam ;

Memarsadeghi, Omeed ;

Samadaeian, Niusha ;

Savad, Shahram .

ROMANIAN JOURNAL OF MILITARY MEDICINE, 2024, 127 (03) :196-203

[22] Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome [J].

Nativio, Raffaella ;

Sparago, Angela ;

Ito, Yoko ;

Weksberg, Rosanna ;

Riccio, Andrea ;

Murrell, Adele .

HUMAN MOLECULAR GENETICS, 2011, 20 (07) :1363-1374

[23] Is ZFP57 binding to H19/IGF2: IG-DMR affected in Silver-Russell syndrome? [J].

Sparago, Angela ;

Cerrato, Flavia ;

Riccio, Andrea .

CLINICAL EPIGENETICS, 2018, 10

[24] Is ZFP57 binding to H19/IGF2:IG-DMR affected in Silver-Russell syndrome? [J].

Angela Sparago ;

Flavia Cerrato ;

Andrea Riccio .

Clinical Epigenetics, 2018, 10

[25] Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1 [J].

Rebecca L Poole ;

Donald J Leith ;

Louise E Docherty ;

Mansur E Shmela ;

Christine Gicquel ;

Miranda Splitt ;

I Karen Temple ;

Deborah J G Mackay .

European Journal of Human Genetics, 2012, 20 :240-243

[26] Loss of imprinting and gene expression analysis of the genes H19 and IGF2 in urinary bladder cancer [J].

Zuravinos, A. ;

Delakas, D. ;

Spandidos, D. A. .

INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, 2010, 26 :S53-S53

[27] 11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome [J].

Habib, Walid Abi ;

Brioude, Frederic ;

Azzi, Salah ;

Salem, Jennifer ;

Das Neves, Cristina ;

Personnier, Claire ;

Chantot-Bastaraud, Sandra ;

Keren, Boris ;

Le Bouc, Yves ;

Harbison, Madeleine D. ;

Netchine, Irene .

HUMAN MUTATION, 2017, 38 (01) :105-111

[28] Nesidioblastosis and mixed hamartoma of the liver in Beckwith-Wiedemann syndrome: Case study including analysis of H19 methylation and insulin-like growth factor 2 genotyping and imprinting [J].

Fukuzawa, R ;

Umezawa, A ;

Morikawa, Y ;

Kim, KC ;

Nagai, T ;

Hata, JI .

PEDIATRIC AND DEVELOPMENTAL PATHOLOGY, 2001, 4 (04) :381-390

[29] Molecular study of WT1, IGF2, H19 and P57KIP2 genes in Mexican children with Wilms' tumorKIP2. [J].

Cervantes, A ;

Salamanca-Gomez, F ;

Barrientos-Salcedo, C ;

Pealoza, R ;

Arenas, D ;

Vazquez, J ;

Sciordia, G ;

Velazquez, J .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) :99-99

[30] Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5 [J].

Eggermann, Thomas ;

Kraft, Florian ;

Kloth, Katja ;

Klopocki, Eva ;

Huening, Irina ;

Hempel, Maja ;

Kunstmann, Erdmute .

CLINICAL GENETICS, 2020, 98 (04) :418-419

← 1 2 3 4 →