Literature DB >> 19655317

First-trimester nuchal abnormalities secondary to dehydrated hereditary stomatocytosis.

O Ami1, O Picone, L Garçon, C Castel, C Guitton, J Delaunay, R Frydman, M V Senat.   

Abstract

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Year:  2009        PMID： 19655317     DOI： 10.1002/pd.2342

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


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  4 in total

Review 1.  Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?

Authors:  Silvia Martin-Almedina; Sahar Mansour; Pia Ostergaard
Journal:  J Physiol       Date:  2018-01-31       Impact factor: 5.182

Review 2.  The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.

Authors:  Joanna F Flatt; Lesley J Bruce
Journal:  Front Physiol       Date:  2018-04-16       Impact factor: 4.566

3.  Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients.

Authors:  Véronique Picard; Corinne Guitton; Isabelle Thuret; Christian Rose; Laurence Bendelac; Kaldoun Ghazal; Patricia Aguilar-Martinez; Catherine Badens; Claire Barro; Claire Bénéteau; Claire Berger; Pascal Cathébras; Eric Deconinck; Jacques Delaunay; Jean-Marc Durand; Nadia Firah; Frédéric Galactéros; Bertrand Godeau; Xavier Jaïs; Jean-Pierre de Jaureguiberry; Camille Le Stradic; François Lifermann; Robert Maffre; Gilles Morin; Julien Perrin; Valérie Proulle; Marc Ruivard; Fabienne Toutain; Agnès Lahary; Loïc Garçon
Journal:  Haematologica       Date:  2019-01-17       Impact factor: 9.941

4.  Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.

Authors:  Elisavet Fotiou; Silvia Martin-Almedina; Michael A Simpson; Shin Lin; Kristiana Gordon; Glen Brice; Giles Atton; Iona Jeffery; David C Rees; Cyril Mignot; Julie Vogt; Tessa Homfray; Michael P Snyder; Stanley G Rockson; Steve Jeffery; Peter S Mortimer; Sahar Mansour; Pia Ostergaard
Journal:  Nat Commun       Date:  2015-09-03       Impact factor: 14.919
  4 in total

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