Literature DB >> 12114497

Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene.

E Goicoechea De Jorge1, I Lorda, M E Gallardo, B Pérez, C Peréz De Ferrán, H Mendoza, S Rodríguez De Córdoba.   

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Year:  2002        PMID： 12114497      PMCID： PMC1735184          DOI： 10.1136/jmg.39.7.e40

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  10 in total

1.  Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.

Authors:  Andrea Zatkova; Tatiana Sedlackova; Jan Radvansky; Helena Polakova; Martina Nemethova; Robert Aquaron; Ismail Dursun; Jeannette L Usher; Ludevit Kadasi
Journal:  JIMD Rep       Date:  2011-10-20

2.  An update on molecular genetics of Alkaptonuria (AKU).

Authors:  Andrea Zatkova
Journal:  J Inherit Metab Dis       Date:  2011-07-01       Impact factor: 4.982

Review 3.  Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review.

Authors:  Alexander A Fisher; Michael W Davis
Journal:  Clin Med Res       Date:  2004-11

4.  Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.

Authors:  Martina Nemethova; Jan Radvanszky; Ludevit Kadasi; David B Ascher; Douglas E V Pires; Tom L Blundell; Berardino Porfirio; Alessandro Mannoni; Annalisa Santucci; Lia Milucci; Silvia Sestini; Gianfranco Biolcati; Fiammetta Sorge; Caterina Aurizi; Robert Aquaron; Mohammed Alsbou; Charles Marques Lourenço; Kanakasabapathi Ramadevi; Lakshminarayan R Ranganath; James A Gallagher; Christa van Kan; Anthony K Hall; Birgitta Olsson; Nicolas Sireau; Hana Ayoob; Oliver G Timmis; Kim-Hanh Le Quan Sang; Federica Genovese; Richard Imrich; Jozef Rovensky; Rangan Srinivasaraghavan; Shruthi K Bharadwaj; Ronen Spiegel; Andrea Zatkova
Journal:  Eur J Hum Genet       Date:  2015-03-25       Impact factor: 4.246

5.  Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria.

Authors:  Mohammed Al-sbou
Journal:  Rheumatol Int       Date:  2011-03-25       Impact factor: 2.631

Review 6.  Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008.

Authors:  Charles R Scriver
Journal:  J Inherit Metab Dis       Date:  2008-10-12       Impact factor: 4.982

7.  Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.

Authors:  Thierry Vilboux; Michael Kayser; Wendy Introne; Pim Suwannarat; Isa Bernardini; Roxanne Fischer; Kevin O'Brien; Robert Kleta; Marjan Huizing; William A Gahl
Journal:  Hum Mutat       Date:  2009-12       Impact factor: 4.878

8.  Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations.

Authors:  O Uyguner; E Goicoechea de Jorge; A Cefle; T Baykal; H Kayserili; K Cefle; M Demirkol; M Yuksel-Apak; S Rodriguez de Córdoba; B Wollnik
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

Review 9.  On the ocular findings in ochronosis: a systematic review of literature.

Authors:  Moritz Lindner; Thomas Bertelmann
Journal:  BMC Ophthalmol       Date:  2014-01-30       Impact factor: 2.209

10.  Medical genetics and genomic medicine in the Dominican Republic: challenges and opportunities.

Authors:  Juvianee I Estrada-Veras; Giselle A Cabrera-Peña; Ceila Pérez-Estrella de Ferrán
Journal:  Mol Genet Genomic Med       Date:  2016-05-12       Impact factor: 2.183
  10 in total

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