Literature DB >> 21038516

Genetic disorders of renal phosphate transport.

Elena Levtchenko, Joost Schoeber, Jacques Jaeken.   

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Year:  2010        PMID: 21038516     DOI: 10.1056/NEJMc1008407

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


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  4 in total

1.  Switch in FGFR3 and -4 expression profile during human renal development may account for transient hypercalcemia in patients with Sotos syndrome due to 5q35 microdeletions.

Authors:  Henricus A M Mutsaers; Elena N Levtchenko; Laetitia Martinerie; Jeanne C L M Pertijs; Karel Allegaert; Koenraad Devriendt; Rosalinde Masereeuw; Leo A H Monnens; Marc Lombès
Journal:  J Clin Endocrinol Metab       Date:  2014-03-26       Impact factor: 5.958

2.  Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.

Authors:  Joanna Kenny; Melissa M Lees; Susan Drury; Angela Barnicoat; William Van't Hoff; Rodger Palmer; Deborah Morrogh; Jonathan J Waters; Nicholas J Lench; Detlef Bockenhauer
Journal:  Pediatr Nephrol       Date:  2011-05-20       Impact factor: 3.714

3.  Loss of function of NaPiIIa causes nephrocalcinosis and possibly kidney insufficiency.

Authors:  Dganit Dinour; Miriam Davidovits; Liat Ganon; Justyna Ruminska; Ian C Forster; Nati Hernando; Eran Eyal; Eli J Holtzman; Carsten A Wagner
Journal:  Pediatr Nephrol       Date:  2016-07-04       Impact factor: 3.714

Review 4.  Inherited Renal Tubulopathies-Challenges and Controversies.

Authors:  Daniela Iancu; Emma Ashton
Journal:  Genes (Basel)       Date:  2020-03-05       Impact factor: 4.096

  4 in total

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