Literature DB >> 9870488

Amelogenesis imperfecta, nephrocalcinosis, and hypocalciuria syndrome in two siblings from a large family with consanguineous parents.

E L Dellow1, K E Harley, R J Unwin, O Wrong, G B Winter, B J Parkins.   

Abstract

Entities:  

Mesh:

Substances:

Year:  1998        PMID: 9870488     DOI: 10.1093/ndt/13.12.3193

Source DB:  PubMed          Journal:  Nephrol Dial Transplant        ISSN: 0931-0509            Impact factor:   5.992


× No keyword cloud information.
  7 in total

1.  Amelogenesis imperfecta with bilateral nephrocalcinosis.

Authors:  P Poornima; Shashikant Katkade; Roshan Noor Mohamed; Rachappa Mallikarjuna
Journal:  BMJ Case Rep       Date:  2013-05-24

2.  Bilateral nephrocalcinosis and amelogenesis imperfecta: A case report.

Authors:  Alok Patel; Chetana Jagtap; Chetan Bhat; Rohan Shah
Journal:  Contemp Clin Dent       Date:  2015 Apr-Jun

3.  Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

Authors:  Graciana Jaureguiberry; Muriel De la Dure-Molla; David Parry; Mickael Quentric; Nina Himmerkus; Toshiyasu Koike; James Poulter; Enriko Klootwijk; Steven L Robinette; Alexander J Howie; Vaksha Patel; Marie-Lucile Figueres; Horia C Stanescu; Naomi Issler; Jeremy K Nicholson; Detlef Bockenhauer; Christopher Laing; Stephen B Walsh; David A McCredie; Sue Povey; Audrey Asselin; Arnaud Picard; Aurore Coulomb; Alan J Medlar; Isabelle Bailleul-Forestier; Alain Verloes; Cedric Le Caignec; Gwenaelle Roussey; Julien Guiol; Bertrand Isidor; Clare Logan; Roger Shore; Colin Johnson; Christopher Inglehearn; Suhaila Al-Bahlani; Matthieu Schmittbuhl; François Clauss; Mathilde Huckert; Virginie Laugel; Emmanuelle Ginglinger; Sandra Pajarola; Giuseppina Spartà; Deborah Bartholdi; Anita Rauch; Marie-Claude Addor; Paulo M Yamaguti; Heloisa P Safatle; Ana Carolina Acevedo; Hercílio Martelli-Júnior; Pedro E dos Santos Netos; Ricardo D Coletta; Sandra Gruessel; Carolin Sandmann; Denise Ruehmann; Craig B Langman; Steven J Scheinman; Didem Ozdemir-Ozenen; Thomas C Hart; P Suzanne Hart; Ute Neugebauer; Eberhard Schlatter; Pascal Houillier; William A Gahl; Miikka Vikkula; Agnès Bloch-Zupan; Markus Bleich; Hiroshi Kitagawa; Robert J Unwin; Alan Mighell; Ariane Berdal; Robert Kleta
Journal:  Nephron Physiol       Date:  2013-02-23

4.  Distal renal tubular acidosis and amelogenesis imperfecta: A rare association.

Authors:  P Ravi; T S Ekambaranath; S Ellil Arasi; E Fernando
Journal:  Indian J Nephrol       Date:  2013-11

Review 5.  Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations.

Authors:  Muriel de la Dure-Molla; Mickael Quentric; Paulo Marcio Yamaguti; Ana-Carolina Acevedo; Alan J Mighell; Miikka Vikkula; Mathilde Huckert; Ariane Berdal; Agnes Bloch-Zupan
Journal:  Orphanet J Rare Dis       Date:  2014-06-14       Impact factor: 4.123

6.  Enamel renal gingival syndrome: A rare case report.

Authors:  Koel Debnath; Amita Couthino; Anirban Chatterjee; Sadhana Shenoy
Journal:  J Indian Soc Periodontol       Date:  2019 Jan-Feb

7.  FAM20A mutations can cause enamel-renal syndrome (ERS).

Authors:  Shih-Kai Wang; Parissa Aref; Yuanyuan Hu; Rachel N Milkovich; James P Simmer; Mohammad El-Khateeb; Hinda Daggag; Zaid H Baqain; Jan C-C Hu
Journal:  PLoS Genet       Date:  2013-02-28       Impact factor: 5.917

  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.