Literature DB >> 35488972

A woman with Alport syndrome in compound-heterozygous state in pregnancy: lessons for the clinical nephrologist.

Zhuo-Ran Song1,2,3,4, Yang Li1,2,3,4, Yanqin Zhang5, Xu-Jie Zhou6,7,8,9, Hong Zhang1,2,3,4.   

Abstract

Entities:  

Year:  2022        PMID： 35488972     DOI： 10.1007/s40620-022-01318-9

Source DB:  PubMed          Journal:  J Nephrol        ISSN： 1121-8428            Impact factor:   3.902


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  8 in total

1.  Pregnancy in Alport syndrome: a report of two differently-evolving cases.

Authors:  M Alessi; A Fabris; A Zambon; D Cremasco; E Muraro; L Dosa; F Anglani; D Del Prete
Journal:  J Obstet Gynaecol       Date:  2014-01       Impact factor: 1.246

Review 2.  Alport syndrome and pregnancy: a case series and literature review.

Authors:  Francesca Brunini; Barbara Zaina; Davide Gianfreda; Wally Ossola; Marisa Giani; Luigi Fedele; Piergiorgio Messa; Gabriella Moroni
Journal:  Arch Gynecol Obstet       Date:  2018-02-28       Impact factor: 2.344

3.  COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.

Authors:  Ilaria Longo; Paola Porcedda; Francesca Mari; Daniela Giachino; Ilaria Meloni; Carla Deplano; Alfredo Brusco; Maurizio Bosio; Laura Massella; Giancarlo Lavoratti; Dario Roccatello; Giovanni Frascá; Gianna Mazzucco; Andrea Onetti Muda; Maura Conti; Federica Fasciolo; Christelle Arrondel; Laurence Heidet; Alessandra Renieri; Mario De Marchi
Journal:  Kidney Int       Date:  2002-06       Impact factor: 10.612

4.  Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.

Authors:  Joel Gibson; Rachel Fieldhouse; Melanie M Y Chan; Omid Sadeghi-Alavijeh; Leslie Burnett; Valerio Izzi; Anton V Persikov; Daniel P Gale; Helen Storey; Judy Savige
Journal:  J Am Soc Nephrol       Date:  2021-06-18       Impact factor: 14.978

5.  X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.

Authors:  Jean Philippe Jais; Bertrand Knebelmann; Iannis Giatras; Mario De Marchi; Gianfranco Rizzoni; Alessandra Renieri; Manfred Weber; Oliver Gross; Kai-Olaf Netzer; Frances Flinter; Yves Pirson; Karin Dahan; Jörgen Wieslander; Ulf Persson; Karl Tryggvason; Paula Martin; Jens Michael Hertz; Cornelis Schröder; Marek Sanak; Maria Fernanda Carvalho; Juan Saus; Corinne Antignac; Hubert Smeets; Marie Claire Gubler
Journal:  J Am Soc Nephrol       Date:  2003-10       Impact factor: 10.121

6.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

7.  Two Pregnancies with a Different Outcome in a Patient with Alport Syndrome.

Authors:  Biljana Gerasimovska Kitanovska; Vesna Gerasimovska; Vesna Livrinova
Journal:  Open Access Maced J Med Sci       Date:  2016-07-02

8.  mRNA analysis identifies deep intronic variants causing Alport syndrome and overcomes the problem of negative results of exome sequencing.

Authors:  Xiaoyuan Wang; Yanqin Zhang; Jie Ding; Fang Wang
Journal:  Sci Rep       Date:  2021-09-10       Impact factor: 4.379
  8 in total

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