Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affectingGRB10-Reference-Cited by-同舟云学术

Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affectingGRB10

Published:2012-09-17 Issue:11 Volume:158A Page:2815-2819
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Eggermann Thomas,Begemann Matthias,Gogiel Magdalena,Palomares María,Vallespín Elena,Fernández Luis,Cazorla Rosario,Spengler Sabrina,García-Miñaúr Sixto

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35612/fullpdf

Reference22 articles.

1. Lessons from imprinted multilocus loss of methylation in human syndromes: A step toward understanding the mechanisms underlying these complex diseases;Azzi;Epigenetics,2010

2. Use of multilocus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted loci;Begemann;Epigenetics,2012

3. Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion;Blagitko;Hum Mol Genet,2000

4. Disruption of the imprinted Grb10 gene leads to disproportionate overgrowth by an Igf2-independent mechanism;Charalambous;PNAS,2003

5. Screening for mutations in the promoter and the coding region of the IGFBP1 and IGFBP3 genes in Silver-Russell syndrome patients;Eggermann;Hum Hered,1999

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4. FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset;Orphanet Journal of Rare Diseases;2016-07-02

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