Literature DB >> 29146703

A Perspective on Inherited Kidney Disease: Lessons for Practicing Nephrologists.

Mathieu Lemaire1,2, Rulan S Parekh3,4,5.   

Abstract

Entities:  

Keywords:  Genes, Modifier; Genomics; Kidney Diseases; Kidney Glomerulus; Mutation; Penetrance; inherited kidney disease; kidney

Mesh：

Year:  2017        PMID： 29146703      PMCID： PMC5718285          DOI： 10.2215/CJN.11751017

Source DB:  PubMed          Journal:  Clin J Am Soc Nephrol        ISSN： 1555-9041            Impact factor:   8.237


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  9 in total

1.  Prospective Evaluation of Kidney Disease in Joubert Syndrome.

Authors:  Leah R Fleming; Daniel A Doherty; Melissa A Parisi; Ian A Glass; Joy Bryant; Roxanne Fischer; Baris Turkbey; Peter Choyke; Kailash Daryanani; Meghana Vemulapalli; James C Mullikin; May Christine Malicdan; Thierry Vilboux; John A Sayer; William A Gahl; Meral Gunay-Aygun
Journal:  Clin J Am Soc Nephrol       Date:  2017-11-16       Impact factor: 8.237

2.  Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.

Authors:  Jens König; Birgitta Kranz; Sabine König; Karl Peter Schlingmann; Andrea Titieni; Burkhard Tönshoff; Sandra Habbig; Lars Pape; Karsten Häffner; Matthias Hansen; Anja Büscher; Martin Bald; Heiko Billing; Raphael Schild; Ulrike Walden; Tobias Hampel; Hagen Staude; Magdalena Riedl; Norbert Gretz; Martin Lablans; Carsten Bergmann; Friedhelm Hildebrandt; Heymut Omran; Martin Konrad
Journal:  Clin J Am Soc Nephrol       Date:  2017-11-16       Impact factor: 8.237

3.  Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.

Authors:  Hao Lu; Maria C Rondón Galeano; Elisabeth Ott; Geraldine Kaeslin; P Jaya Kausalya; Carina Kramer; Nadina Ortiz-Brüchle; Nadescha Hilger; Vicki Metzis; Milan Hiersche; Shang Yew Tay; Robert Tunningley; Shubha Vij; Andrew D Courtney; Belinda Whittle; Elke Wühl; Udo Vester; Björn Hartleben; Steffen Neuber; Valeska Frank; Melissa H Little; Daniel Epting; Peter Papathanasiou; Andrew C Perkins; Graham D Wright; Walter Hunziker; Heon Yung Gee; Edgar A Otto; Klaus Zerres; Friedhelm Hildebrandt; Sudipto Roy; Carol Wicking; Carsten Bergmann
Journal:  Nat Genet       Date:  2017-05-22       Impact factor: 38.330

Review 4.  Deep phenotyping for precision medicine.

Authors:  Peter N Robinson
Journal:  Hum Mutat       Date:  2012-05       Impact factor: 4.878

Review 5.  Rare inherited disorders with renal involvement-approach to the patient.

Authors:  Dominique Joly; Christophe Béroud; Jean-Pierre Grünfeld
Journal:  Kidney Int       Date:  2015-02-04       Impact factor: 10.612

Review 6.  Unlocking Mendelian disease using exome sequencing.

Authors:  Christian Gilissen; Alexander Hoischen; Han G Brunner; Joris A Veltman
Journal:  Genome Biol       Date:  2011-09-14       Impact factor: 13.583

7.  Guidelines for investigating causality of sequence variants in human disease.

Authors:  D G MacArthur; T A Manolio; D P Dimmock; H L Rehm; J Shendure; G R Abecasis; D R Adams; R B Altman; S E Antonarakis; E A Ashley; J C Barrett; L G Biesecker; D F Conrad; G M Cooper; N J Cox; M J Daly; M B Gerstein; D B Goldstein; J N Hirschhorn; S M Leal; L A Pennacchio; J A Stamatoyannopoulos; S R Sunyaev; D Valle; B F Voight; W Winckler; C Gunter
Journal:  Nature       Date:  2014-04-24       Impact factor: 49.962

8.  Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study.

Authors:  Sarah Wente; Simone Schröder; Johannes Buckard; Hans-Martin Büttel; Florian von Deimling; Wilfried Diener; Martin Häussler; Susanne Hübschle; Silvia Kinder; Gerhard Kurlemann; Christoph Kretzschmar; Michael Lingen; Wiebke Maroske; Dirk Mundt; Iciar Sánchez-Albisua; Jürgen Seeger; Sandra P Toelle; Eugen Boltshauser; Knut Brockmann
Journal:  Orphanet J Rare Dis       Date:  2016-07-29       Impact factor: 4.123

Review 9.  Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

Authors:  S L Sawyer; T Hartley; D A Dyment; C L Beaulieu; J Schwartzentruber; A Smith; H M Bedford; G Bernard; F P Bernier; B Brais; D E Bulman; J Warman Chardon; D Chitayat; J Deladoëy; B A Fernandez; P Frosk; M T Geraghty; B Gerull; W Gibson; R M Gow; G E Graham; J S Green; E Heon; G Horvath; A M Innes; N Jabado; R H Kim; R K Koenekoop; A Khan; O J Lehmann; R Mendoza-Londono; J L Michaud; S M Nikkel; L S Penney; C Polychronakos; J Richer; G A Rouleau; M E Samuels; V M Siu; O Suchowersky; M A Tarnopolsky; G Yoon; F R Zahir; J Majewski; K M Boycott
Journal:  Clin Genet       Date:  2015-09-22       Impact factor: 4.438
  9 in total
  1 in total

1.  Network for Early Onset Cystic Kidney Diseases-A Comprehensive Multidisciplinary Approach to Hereditary Cystic Kidney Diseases in Childhood.

Authors:  Jens Christian König; Andrea Titieni; Martin Konrad
Journal:  Front Pediatr       Date:  2018-02-13       Impact factor: 3.418
  1 in total

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