Literature DB >> 12624147

Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease.

S Borrego, R M Fernández, H Dziema, A Niess, M López-Alonso, G Antiñolo, C Eng.   

Abstract

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Year:  2003        PMID： 12624147      PMCID： PMC1735393          DOI： 10.1136/jmg.40.3.e18

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  14 in total

Review 1.  Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET.

Authors:  S W Moore; M G Zaahl
Journal:  Pediatr Surg Int       Date:  2008-03-26       Impact factor: 1.827

Review 2.  Development and developmental disorders of the enteric nervous system.

Authors:  Florian Obermayr; Ryo Hotta; Hideki Enomoto; Heather M Young
Journal:  Nat Rev Gastroenterol Hepatol       Date:  2012-12-11       Impact factor: 46.802

3.  Glial cell line-derived neurotrophic factor receptor alpha 2 (GFRA2) gene is associated with tardive dyskinesia.

Authors:  Renan P Souza; Vincenzo de Luca; Gary Remington; Jeffrey A Lieberman; Herbert Y Meltzer; James L Kennedy; Albert H C Wong
Journal:  Psychopharmacology (Berl)       Date:  2010-04-06       Impact factor: 4.530

Review 4.  Knockout mouse models of Hirschsprung's disease.

Authors:  J Zimmer; P Puri
Journal:  Pediatr Surg Int       Date:  2015-07-03       Impact factor: 1.827

5.  Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease.

Authors:  Avencia Sánchez-Mejías; Rocio Núñez-Torres; Raquel M Fernández; Guillermo Antiñolo; Salud Borrego
Journal:  BMC Med Genet       Date:  2010-05-11       Impact factor: 2.103

6.  Down-regulation of circ-PRKCI inhibits cell migration and proliferation in Hirschsprung disease by suppressing the expression of miR-1324 target PLCB1.

Authors:  Lingling Zhou; Yang Li; Weiwei Jiang; Hua Zhang; Zechao Wen; Yang Su; Feng Wu; Zhengke Zhi; Qiyang Shen; Hongxing Li; Xiaoqun Xu; Weibing Tang
Journal:  Cell Cycle       Date:  2018-07-09       Impact factor: 4.534

7.  Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients.

Authors:  Berta Luzón-Toro; Laura Espino-Paisán; Raquel Ma Fernández; Marta Martín-Sánchez; Guillermo Antiñolo; Salud Borrego
Journal:  BMC Med Genet       Date:  2015-10-05       Impact factor: 2.103

8.  Analysis of Newly Identified and Rare Synonymous Genetic Variants in the RET Gene in Patients with Medullary Thyroid Carcinoma in Polish Population.

Authors:  Maria Sromek; Małgorzata Czetwertyńska; Magdalena Tarasińska; Aneta Janiec-Jankowska; Renata Zub; Maria Ćwikła; Dorota Nowakowska; Magdalena Chechlińska
Journal:  Endocr Pathol       Date:  2017-09       Impact factor: 3.943

9.  Mutational spectrum of semaphorin 3A and semaphorin 3D genes in Spanish Hirschsprung patients.

Authors:  Berta Luzón-Toro; Raquel M Fernández; Ana Torroglosa; Juan Carlos de Agustín; Cristina Méndez-Vidal; Dolores Isabel Segura; Guillermo Antiñolo; Salud Borrego
Journal:  PLoS One       Date:  2013-01-23       Impact factor: 3.240

10.  Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis.

Authors:  Veronica Arora; Suliman Khan; Ayman W. El-Hattab; Ratna Dua Puri; Maria Eugenia Rocha; Rijad Merdzanic; Omid Paknia; Christian Beetz; Arndt Rolfs; Aida M Bertoli-Avella; Peter Bauer; Ishwar C Verma
Journal:  J Am Soc Nephrol       Date:  2020-10-05       Impact factor: 10.121
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