Literature DB >> 10819641

Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene.

B Porfirio, I Chiarelli, C Graziano, A Mannoni, A Morrone, E Zammarchi, D B De Bernabé, S R De Córdoba.   

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Year:  2000        PMID： 10819641      PMCID： PMC1734567          DOI： 10.1136/jmg.37.4.309

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


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  7 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

3.  A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria.

Authors:  Berardino Porfirio; Roberta Sestini; Greta Gorelli; Miriam Cordovana; Alessandro Mannoni; Jeanette L Usher; Wendy J Introne; William A Gahl; Thierry Vilboux
Journal:  JIMD Rep       Date:  2016-03-10

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.  High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.

Authors:  A Zatková; D B de Bernabé; H Poláková; M Zvarík; E Feráková; V Bosák; V Ferák; L Kádasi; S R de Córdoba
Journal:  Am J Hum Genet       Date:  2000-10-02       Impact factor: 11.025

6.  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

7.  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
  7 in total

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