Literature DB >> 15575007

Multiple urinary tract malformations with likely recessive inheritance in a large Somalian kindred.

Andreas Pasch1, Julia Hoefele, Herbert Grimminger, Hans-Walter Hacker, Friedhelm Hildebrandt.   

Abstract

Entities:  

Mesh:

Year:  2004        PMID: 15575007     DOI: 10.1093/ndt/gfh514

Source DB:  PubMed          Journal:  Nephrol Dial Transplant        ISSN: 0931-0509            Impact factor:   5.992


× No keyword cloud information.
  10 in total

1.  Disorders of sex development and Diamond-Blackfan anemia: is there an association?

Authors:  Julia Hoefele; Anne-Marie Bertrand; Maximilian Stehr; Thierry Leblanc; Gil Tchernia; Maud Simansour; Brigitte Mignot; Martin Alberer; Hans-Peter Schwarz; Lydie Da Costa
Journal:  Pediatr Nephrol       Date:  2010-04-01       Impact factor: 3.714

Review 2.  Genetics of vesicoureteral reflux.

Authors:  Prem Puri; Jan-Hendrik Gosemann; John Darlow; David E Barton
Journal:  Nat Rev Urol       Date:  2011-08-23       Impact factor: 14.432

3.  Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24.

Authors:  Shazia Ashraf; Bethan E Hoskins; Hassan Chaib; Julia Hoefele; Andreas Pasch; Pawaree Saisawat; Friedrich Trefz; Hans W Hacker; Gudrun Nuernberg; Peter Nuernberg; Edgar A Otto; Friedhelm Hildebrandt
Journal:  Nephrol Dial Transplant       Date:  2009-12-10       Impact factor: 5.992

Review 4.  Gene discovery and vesicoureteric reflux.

Authors:  Inga J Murawski; Indra R Gupta
Journal:  Pediatr Nephrol       Date:  2008-02-06       Impact factor: 3.714

5.  Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33.

Authors:  Simone Sanna-Cherchi; Gianluca Caridi; Patricia L Weng; Monica Dagnino; Marco Seri; Anita Konka; Danio Somenzi; Alba Carrea; Claudia Izzi; Domenica Casu; Landino Allegri; Kai M Schmidt-Ott; Jonathan Barasch; Francesco Scolari; Roberto Ravazzolo; Gian Marco Ghiggeri; Ali G Gharavi
Journal:  Am J Hum Genet       Date:  2007-01-26       Impact factor: 11.025

6.  Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.

Authors:  Albertien M van Eerde; Karen Duran; Els van Riel; Carolien G F de Kovel; Bobby P C Koeleman; Nine V A M Knoers; Kirsten Y Renkema; Henricus J R van der Horst; Arend Bökenkamp; Johanna M van Hagen; Leonard H van den Berg; Katja P Wolffenbuttel; Joop van den Hoek; Wouter F Feitz; Tom P V M de Jong; Jacques C Giltay; Cisca Wijmenga
Journal:  PLoS One       Date:  2012-04-27       Impact factor: 3.240

7.  Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.

Authors:  Miguel Verbitsky; Priya Krithivasan; Ekaterina Batourina; Atlas Khan; Sarah E Graham; Maddalena Marasà; Hyunwoo Kim; Tze Y Lim; Patricia L Weng; Elena Sánchez-Rodríguez; Adele Mitrotti; Dina F Ahram; Francesca Zanoni; David A Fasel; Rik Westland; Matthew G Sampson; Jun Y Zhang; Monica Bodria; Byum Hee Kil; Shirlee Shril; Loreto Gesualdo; Fabio Torri; Francesco Scolari; Claudia Izzi; Joanna A E van Wijk; Marijan Saraga; Domenico Santoro; Giovanni Conti; David E Barton; Mark G Dobson; Prem Puri; Susan L Furth; Bradley A Warady; Isabella Pisani; Enrico Fiaccadori; Landino Allegri; Maria Ludovica Degl'Innocenti; Giorgio Piaggio; Shumyle Alam; Maddalena Gigante; Gianluigi Zaza; Pasquale Esposito; Fangming Lin; Ana Cristina Simões-E-Silva; Andrzej Brodkiewicz; Dorota Drozdz; Katarzyna Zachwieja; Monika Miklaszewska; Maria Szczepanska; Piotr Adamczyk; Marcin Tkaczyk; Daria Tomczyk; Przemyslaw Sikora; Malgorzata Mizerska-Wasiak; Grazyna Krzemien; Agnieszka Szmigielska; Marcin Zaniew; Vladimir J Lozanovski; Zoran Gucev; Iuliana Ionita-Laza; Ian B Stanaway; David R Crosslin; Craig S Wong; Friedhelm Hildebrandt; Jonathan Barasch; Eimear E Kenny; Ruth J F Loos; Brynn Levy; Gian Marco Ghiggeri; Hakon Hakonarson; Anna Latos-Bieleńska; Anna Materna-Kiryluk; John M Darlow; Velibor Tasic; Cristen Willer; Krzysztof Kiryluk; Simone Sanna-Cherchi; Cathy L Mendelsohn; Ali G Gharavi
Journal:  J Am Soc Nephrol       Date:  2021-02-17       Impact factor: 14.978

Review 8.  Genetic approaches to human renal agenesis/hypoplasia and dysplasia.

Authors:  Simone Sanna-Cherchi; Gianluca Caridi; Patricia L Weng; Francesco Scolari; Francesco Perfumo; Ali G Gharavi; Gian Marco Ghiggeri
Journal:  Pediatr Nephrol       Date:  2007-04-17       Impact factor: 3.714

Review 9.  Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.

Authors:  Valentina P Capone; William Morello; Francesca Taroni; Giovanni Montini
Journal:  Int J Mol Sci       Date:  2017-04-11       Impact factor: 5.923

10.  A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity.

Authors:  Maria Luisa Conte; Aida M Bertoli-Avella; Bianca M de Graaf; Francesca Punzo; Giuliana Lama; Angela La Manna; Carolina Grassia; Pier Francesco Rambaldi; Ben A Oostra; Silverio Perrotta
Journal:  Pediatr Nephrol       Date:  2008-01-16       Impact factor: 3.714

  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.