Literature DB >> 28327573

Clinical utility gene card for: Fabry disease - update 2016.

Andreas Gal1, Michael Beck2, Wolfgang Höppner1, Dominique P Germain3.   

Abstract

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Year:  2017        PMID： 28327573      PMCID： PMC5520081          DOI： 10.1038/ejhg.2017.17

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  16 in total

1.  The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.

Authors:  M Bodzioch; E Orsó; J Klucken; T Langmann; A Böttcher; W Diederich; W Drobnik; S Barlage; C Büchler; M Porsch-Ozcürümez; W E Kaminski; H W Hahmann; K Oette; G Rothe; C Aslanidis; K J Lackner; G Schmitz
Journal:  Nat Genet       Date:  1999-08       Impact factor: 38.330

2.  Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.

Authors:  A Brooks-Wilson; M Marcil; S M Clee; L H Zhang; K Roomp; M van Dam; L Yu; C Brewer; J A Collins; H O Molhuizen; O Loubser; B F Ouelette; K Fichter; K J Ashbourne-Excoffon; C W Sensen; S Scherer; S Mott; M Denis; D Martindale; J Frohlich; K Morgan; B Koop; S Pimstone; J J Kastelein; J Genest; M R Hayden
Journal:  Nat Genet       Date:  1999-08       Impact factor: 38.330

3.  Specific mutations in ABCA1 have discrete effects on ABCA1 function and lipid phenotypes both in vivo and in vitro.

Authors:  Roshni R Singaraja; Henk Visscher; Erick R James; Angeliki Chroni; Jonathan M Coutinho; Liam R Brunham; Martin H Kang; Vassilis I Zannis; Giovanna Chimini; Michael R Hayden
Journal:  Circ Res       Date:  2006-07-27       Impact factor: 17.367

4.  X-chromosome inactivation in female patients with Fabry disease.

Authors:  L Echevarria; K Benistan; A Toussaint; O Dubourg; A A Hagege; D Eladari; F Jabbour; C Beldjord; P De Mazancourt; D P Germain
Journal:  Clin Genet       Date:  2015-06-22       Impact factor: 4.438

Review 5.  Marked HDL deficiency and premature coronary heart disease.

Authors:  Ernst J Schaefer; Raul D Santos; Bela F Asztalos
Journal:  Curr Opin Lipidol       Date:  2010-08       Impact factor: 4.776

Review 6.  Diagnosis and treatment of high density lipoprotein deficiency.

Authors:  Ernst J Schaefer; Pimjai Anthanont; Margaret R Diffenderfer; Eliana Polisecki; Bela F Asztalos
Journal:  Prog Cardiovasc Dis       Date:  2016-08-24       Impact factor: 8.194

7.  The heart in Tangier disease. Severe coronary atherosclerosis with near absence of high-density lipoprotein cholesterol.

Authors:  S L Mautner; J A Sanchez; D J Rader; G C Mautner; V J Ferrans; D S Fredrickson; H B Brewer; W C Roberts
Journal:  Am J Clin Pathol       Date:  1992-08       Impact factor: 2.493

Review 8.  Approach to the patient with extremely low HDL-cholesterol.

Authors:  Daniel J Rader; Emil M deGoma
Journal:  J Clin Endocrinol Metab       Date:  2012-10       Impact factor: 5.958

Review 9.  A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance.

Authors:  L van der Tol; B E Smid; B J H M Poorthuis; M Biegstraaten; R H Lekanne Deprez; G E Linthorst; C E M Hollak
Journal:  J Med Genet       Date:  2013-08-06       Impact factor: 6.318

Review 10.  Fabry disease.

Authors:  Dominique P Germain
Journal:  Orphanet J Rare Dis       Date:  2010-11-22       Impact factor: 4.123
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  3 in total

Review 1.  The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.

Authors:  Dominique P Germain; Sergey Moiseev; Fernando Suárez-Obando; Faisal Al Ismaili; Huda Al Khawaja; Gheona Altarescu; Fellype C Barreto; Farid Haddoum; Fatemeh Hadipour; Irina Maksimova; Mirelle Kramis; Sheela Nampoothiri; Khanh Ngoc Nguyen; Dau-Ming Niu; Juan Politei; Long-Sun Ro; Dung Vu Chi; Nan Chen; Sergey Kutsev
Journal:  Mol Genet Genomic Med       Date:  2021-04-09       Impact factor: 2.183

2.  Fabry Disease With Concomitant Lewy Body Disease.

Authors:  Kelly Del Tredici; Albert C Ludolph; Simone Feldengut; Christian Jacob; Heinz Reichmann; Jürgen R Bohl; Heiko Braak
Journal:  J Neuropathol Exp Neurol       Date:  2020-04-01       Impact factor: 3.685

3.  Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience.

Authors:  Vincenza Gragnaniello; Alessandro P Burlina; Giulia Polo; Antonella Giuliani; Leonardo Salviati; Giovanni Duro; Chiara Cazzorla; Laura Rubert; Evelina Maines; Dominique P Germain; Alberto B Burlina
Journal:  Biomolecules       Date:  2021-06-27
  3 in total

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