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Literature DB >> 24357607

Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum.

Denny Schanze¹, Hülya Kayserili, Bilge N Satkın, Umut Altunoglu, Martin Zenker.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2013 PMID： 24357607 DOI： 10.1002/ajmg.a.36343

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

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8 in total

1. A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.

Authors: Qian Yu; Bingying Lin; Shangqian Xie; Song Gao; Wei Li; Yizhi Liu; Hongwei Wang; Danping Huang; Zhi Xie
Journal: Hum Mol Genet Date: 2018-07-01 Impact factor: 6.150

2. Fraser Syndrome - a Case Report and Review of Literature.

Authors: Adrian Dumitru; Mariana Costache; Anca Mihaela Lazaroiu; George Simion; Diana Secara; Monica Cirstoiu; Alina Emanoil; Tiberiu Augustin Georgescu; Maria Sajin
Journal: Maedica (Bucur) Date: 2016-03

3. Glutamate Receptor Interacting Protein 1 Regulates CD4(+) CTLA-4 Expression and Transplant Rejection.

Authors: K L Modjeski; S C Levy; S K Ture; D J Field; G Shi; K Ko; Q Zhu; C N Morrell
Journal: Am J Transplant Date: 2016-02-25 Impact factor: 8.086

4. Protein-Trap Insertional Mutagenesis Uncovers New Genes Involved in Zebrafish Skin Development, Including a Neuregulin 2a-Based ErbB Signaling Pathway Required during Median Fin Fold Morphogenesis.

Authors: Stephanie E Westcot; Julia Hatzold; Mark D Urban; Stefânia K Richetti; Kimberly J Skuster; Rhianna M Harm; Roberto Lopez Cervera; Noriko Umemoto; Melissa S McNulty; Karl J Clark; Matthias Hammerschmidt; Stephen C Ekker
Journal: PLoS One Date: 2015-06-25 Impact factor: 3.240

Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum.

1. A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.

2. Fraser Syndrome - a Case Report and Review of Literature.

3. Glutamate Receptor Interacting Protein 1 Regulates CD4(+) CTLA-4 Expression and Transplant Rejection.

4. Protein-Trap Insertional Mutagenesis Uncovers New Genes Involved in Zebrafish Skin Development, Including a Neuregulin 2a-Based ErbB Signaling Pathway Required during Median Fin Fold Morphogenesis.

5. Glutamate Receptor Interacting Protein 1 Mediates Platelet Adhesion and Thrombus Formation.

6. Bilateral anophthalmia and intrahepatic biliary atresia, two unusual components of Fraser syndrome: a case report.

7. Diagnosis of Fraser syndrome missed out until the age of six months old in a low-resource setting: a case report.

8. Pharyngeal morphogenesis requires fras1-itga8-dependent epithelial-mesenchymal interaction.