Literature DB >> 31807577

Expanding the knowledge on development of CAKUT: molecular genetics and beyond.

Gabriel C Dworschak1,2,3, Heiko Reutter3,4, Alina C Hilger1,3.   

Abstract

Year:  2019        PMID： 31807577      PMCID： PMC6861812          DOI： 10.21037/atm.2019.09.157

Source DB:  PubMed          Journal:  Ann Transl Med        ISSN： 2305-5839


× No keyword cloud information.
  11 in total

Review 1.  [Basonuclins and DISCO proteins: regulators of development in vertebrates and insects].

Authors:  Françoise Hervé; Amandine Vanhoutteghem; Philippe Djian
Journal:  Med Sci (Paris)       Date:  2012-01-27       Impact factor: 0.818

Review 2.  Basonuclins and disco: Orthologous zinc finger proteins essential for development in vertebrates and arthropods.

Authors:  Amandine Vanhoutteghem; Cyril Bouche; Anna Maciejewski-Duval; Françoise Hervé; Philippe Djian
Journal:  Biochimie       Date:  2010-09-24       Impact factor: 4.079

Review 3.  Genetic, environmental, and epigenetic factors involved in CAKUT.

Authors:  Nayia Nicolaou; Kirsten Y Renkema; Ernie M H F Bongers; Rachel H Giles; Nine V A M Knoers
Journal:  Nat Rev Nephrol       Date:  2015-08-18       Impact factor: 28.314

4.  Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development.

Authors:  Elizabeth J Bhoj; Purita Ramos; Linda A Baker; Vidu Garg; Nicholas Cost; Agneta Nordenskjöld; Frederick F Elder; Steven B Bleyl; Neil E Bowles; Cammon B Arrington; Brigitte Delhomme; Amandine Vanhoutteghem; Philippe Djian; Andrew R Zinn
Journal:  Eur J Hum Genet       Date:  2011-02-02       Impact factor: 4.246

5.  A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.

Authors:  Damian Smedley; Max Schubach; Julius O B Jacobsen; Sebastian Köhler; Tomasz Zemojtel; Malte Spielmann; Marten Jäger; Harry Hochheiser; Nicole L Washington; Julie A McMurry; Melissa A Haendel; Christopher J Mungall; Suzanna E Lewis; Tudor Groza; Giorgio Valentini; Peter N Robinson
Journal:  Am J Hum Genet       Date:  2016-08-25       Impact factor: 11.025

6.  Extracorporeal membrane oxygenation in the neonate with congenital renal disease and pulmonary hypoplasia.

Authors:  R E Caesar; M G Packer; G W Kaplan; G G Dudell; A L Guerrant; W R Griswold; J M Lemire; S A Mendoza; V M Reznik
Journal:  J Pediatr Surg       Date:  1995-11       Impact factor: 2.545

7.  Percutaneous vesicoamniotic shunting versus conservative management for fetal lower urinary tract obstruction (PLUTO): a randomised trial.

Authors:  Rachel K Morris; Gemma L Malin; Elisabeth Quinlan-Jones; Lee J Middleton; Karla Hemming; Danielle Burke; Jane P Daniels; Khalid S Khan; Jon Deeks; Mark D Kilby
Journal:  Lancet       Date:  2013-08-14       Impact factor: 79.321

8.  Functional Analysis and Fine Mapping of the 9p22.2 Ovarian Cancer Susceptibility Locus.

Authors:  Melissa A Buckley; Nicholas T Woods; Jonathan P Tyrer; Gustavo Mendoza-Fandiño; Kate Lawrenson; Dennis J Hazelett; Hamed S Najafabadi; Anxhela Gjyshi; Renato S Carvalho; Paulo C Lyra; Simon G Coetzee; Howard C Shen; Ally W Yang; Madalene A Earp; Sean J Yoder; Harvey Risch; Georgia Chenevix-Trench; Susan J Ramus; Catherine M Phelan; Gerhard A Coetzee; Houtan Noushmehr; Timothy R Hughes; Thomas A Sellers; Ellen L Goode; Paul D Pharoah; Simon A Gayther; Alvaro N A Monteiro
Journal:  Cancer Res       Date:  2018-11-28       Impact factor: 12.701

9.  Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

Authors:  Daw-Yang Hwang; Gabriel C Dworschak; Stefan Kohl; Pawaree Saisawat; Asaf Vivante; Alina C Hilger; Heiko M Reutter; Neveen A Soliman; Radovan Bogdanovic; Elijah O Kehinde; Velibor Tasic; Friedhelm Hildebrandt
Journal:  Kidney Int       Date:  2014-01-15       Impact factor: 10.612

10.  Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.

Authors:  Caroline M Kolvenbach; Gabriel C Dworschak; Sandra Frese; Anna S Japp; Peggy Schuster; Nina Wenzlitschke; Öznur Yilmaz; Filipa M Lopes; Alexey Pryalukhin; Luca Schierbaum; Loes F M van der Zanden; Franziska Kause; Ronen Schneider; Katarzyna Taranta-Janusz; Maria Szczepańska; Krzysztof Pawlaczyk; William G Newman; Glenda M Beaman; Helen M Stuart; Raimondo M Cervellione; Wouter F J Feitz; Iris A L M van Rooij; Michiel F Schreuder; Martijn Steffens; Stefanie Weber; Waltraut M Merz; Markus Feldkötter; Bernd Hoppe; Holger Thiele; Janine Altmüller; Christoph Berg; Glen Kristiansen; Michael Ludwig; Heiko Reutter; Adrian S Woolf; Friedhelm Hildebrandt; Phillip Grote; Marcin Zaniew; Benjamin Odermatt; Alina C Hilger
Journal:  Am J Hum Genet       Date:  2019-05-02       Impact factor: 11.025
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.