Literature DB >> 31069511

An unusual case of nephrotic syndrome in a microcephalic infant: Answers.

Elizabeth Baker1, Donald Weaver1, Susan Massengill1, Dana Mittag1, Jane Juusola2, Laurie Demmer3.   

Abstract

Entities:  

Keywords:  Clinical utility; Exome sequencing; Galloway Mowat syndrome; LAGE3; Microcephaly; Nephrotic syndrome

Mesh：

Substances：

Year:  2019        PMID： 31069511     DOI： 10.1007/s00467-019-04261-3

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


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  10 in total

1.  Galloway-Mowat syndrome: neurologic features in two sibling pairs.

Authors:  Jeffrey J Ekstrand; Aaron L Friedman; Carl E Stafstrom
Journal:  Pediatr Neurol       Date:  2012-08       Impact factor: 3.372

2.  Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.

Authors:  Tawfeg Ben-Omran; Somayyeh Fahiminiya; Natalie Sorfazlian; Mariam Almuriekhi; Zafar Nawaz; Javad Nadaf; Kitam Abu Khadija; Samiha Zaineddin; Hussein Kamel; Jacek Majewski; Vincent Tropepe
Journal:  J Med Genet       Date:  2015-04-14       Impact factor: 6.318

3.  Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Authors:  Daniela A Braun; Jia Rao; Geraldine Mollet; David Schapiro; Marie-Claire Daugeron; Weizhen Tan; Olivier Gribouval; Olivia Boyer; Patrick Revy; Tilman Jobst-Schwan; Johanna Magdalena Schmidt; Jennifer A Lawson; Denny Schanze; Shazia Ashraf; Jeremy F P Ullmann; Charlotte A Hoogstraten; Nathalie Boddaert; Bruno Collinet; Gaëlle Martin; Dominique Liger; Svjetlana Lovric; Monica Furlano; I Chiara Guerrera; Oraly Sanchez-Ferras; Jennifer F Hu; Anne-Claire Boschat; Sylvia Sanquer; Björn Menten; Sarah Vergult; Nina De Rocker; Merlin Airik; Tobias Hermle; Shirlee Shril; Eugen Widmeier; Heon Yung Gee; Won-Il Choi; Carolin E Sadowski; Werner L Pabst; Jillian K Warejko; Ankana Daga; Tamara Basta; Verena Matejas; Karin Scharmann; Sandra D Kienast; Babak Behnam; Brendan Beeson; Amber Begtrup; Malcolm Bruce; Gaik-Siew Ch'ng; Shuan-Pei Lin; Jui-Hsing Chang; Chao-Huei Chen; Megan T Cho; Patrick M Gaffney; Patrick E Gipson; Chyong-Hsin Hsu; Jameela A Kari; Yu-Yuan Ke; Cathy Kiraly-Borri; Wai-Ming Lai; Emmanuelle Lemyre; Rebecca Okashah Littlejohn; Amira Masri; Mastaneh Moghtaderi; Kazuyuki Nakamura; Fatih Ozaltin; Marleen Praet; Chitra Prasad; Agnieszka Prytula; Elizabeth R Roeder; Patrick Rump; Rhonda E Schnur; Takashi Shiihara; Manish D Sinha; Neveen A Soliman; Kenza Soulami; David A Sweetser; Wen-Hui Tsai; Jeng-Daw Tsai; Rezan Topaloglu; Udo Vester; David H Viskochil; Nithiwat Vatanavicharn; Jessica L Waxler; Klaas J Wierenga; Matthias T F Wolf; Sik-Nin Wong; Sebastian A Leidel; Gessica Truglio; Peter C Dedon; Annapurna Poduri; Shrikant Mane; Richard P Lifton; Maxime Bouchard; Peter Kannu; David Chitayat; Daniella Magen; Bert Callewaert; Herman van Tilbeurgh; Martin Zenker; Corinne Antignac; Friedhelm Hildebrandt
Journal:  Nat Genet       Date:  2017-08-14       Impact factor: 38.330

4.  Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs.

Authors:  W H Galloway; A P Mowat
Journal:  J Med Genet       Date:  1968-12       Impact factor: 6.318

Review 5.  Genetic testing in nephrotic syndrome--challenges and opportunities.

Authors:  Rasheed A Gbadegesin; Michelle P Winn; William E Smoyer
Journal:  Nat Rev Nephrol       Date:  2013-01-15       Impact factor: 28.314

6.  Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: a possible mild form of Galloway-Mowat syndrome.

Authors:  Takashi Shiihara; Mitsuhiro Kato; Toshiyuki Kimura; Akira Matsunaga; Kensuke Joh; Kiyoshi Hayasaka
Journal:  J Child Neurol       Date:  2003-02       Impact factor: 1.987

7.  Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.

Authors:  Rasim O Rosti; Esra Dikoglu; Maha S Zaki; Ghada Abdel-Salam; Nawal Makhseed; Jordan C Sese; Damir Musaev; Basak Rosti; Mary J Harbert; Marilyn C Jones; Keith K Vaux; Joseph G Gleeson
Journal:  Am J Med Genet A       Date:  2016-01-05       Impact factor: 2.802

8.  Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.

Authors:  Robert N Jinks; Erik G Puffenberger; Emma Baple; Brian Harding; Peter Crino; Agnes B Fogo; Olivia Wenger; Baozhong Xin; Alanna E Koehler; Madeleine H McGlincy; Margaret M Provencher; Jeffrey D Smith; Linh Tran; Saeed Al Turki; Barry A Chioza; Harold Cross; Gaurav V Harlalka; Matthew E Hurles; Reza Maroofian; Adam D Heaps; Mary C Morton; Lisa Stempak; Friedhelm Hildebrandt; Carolin E Sadowski; Joshua Zaritsky; Kenneth Campellone; D Holmes Morton; Heng Wang; Andrew Crosby; Kevin A Strauss
Journal:  Brain       Date:  2015-06-11       Impact factor: 13.501

Review 9.  Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?

Authors:  Rebecca Preston; Helen M Stuart; Rachel Lennon
Journal:  Pediatr Nephrol       Date:  2017-11-27       Impact factor: 3.714

10.  Clinical application of whole-exome sequencing across clinical indications.

Authors:  Kyle Retterer; Jane Juusola; Megan T Cho; Patrik Vitazka; Francisca Millan; Federica Gibellini; Annette Vertino-Bell; Nizar Smaoui; Julie Neidich; Kristin G Monaghan; Dianalee McKnight; Renkui Bai; Sharon Suchy; Bethany Friedman; Jackie Tahiliani; Daniel Pineda-Alvarez; Gabriele Richard; Tracy Brandt; Eden Haverfield; Wendy K Chung; Sherri Bale
Journal:  Genet Med       Date:  2015-12-03       Impact factor: 8.822
  10 in total

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