Literature DB >> 15173230

Estimating the age of rare disease mutations: the example of Triple-A syndrome.

E Genin, A Tullio-Pelet, F Begeot, S Lyonnet, L Abel.   

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Year:  2004        PMID： 15173230      PMCID： PMC1735818          DOI： 10.1136/jmg.2003.017962

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


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  53 in total

1.  A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association.

Authors:  M Melin; J Klar; T Jr Gedde-Dahl; R Fredriksson; I Hausser; F Brandrup; A Bygum; A Vahlquist; M Hellström Pigg; N Dahl
Journal:  J Hum Genet       Date:  2006-09-01       Impact factor: 3.172

2.  LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dating from the 13th century.

Authors:  Suzanne Lesage; Anne-Louise Leutenegger; Pablo Ibanez; Sabine Janin; Ebba Lohmann; Alexandra Dürr; Alexis Brice
Journal:  Am J Hum Genet       Date:  2005-08       Impact factor: 11.025

3.  A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients.

Authors:  Imen Ben-Mustapha; Meriem Ben-Ali; Najla Mekki; Etienne Patin; Christine Harmant; Jihène Bouguila; Houda Elloumi-Zghal; Abdelaziz Harbi; Mohamed Béjaoui; Lamia Boughammoura; Jalel Chemli; Mohamed-Ridha Barbouche
Journal:  Immunogenetics       Date:  2013-10-15       Impact factor: 2.846

4.  An American founder mutation in MLH1.

Authors:  Jerneja Tomsic; Sandya Liyanarachchi; Heather Hampel; Monika Morak; Brittany C Thomas; Victoria M Raymond; Anu Chittenden; Hans K Schackert; Stephen B Gruber; Sapna Syngal; Alessandra Viel; Elke Holinski-Feder; Stephen N Thibodeau; Albert de la Chapelle
Journal:  Int J Cancer       Date:  2011-08-30       Impact factor: 7.396

5.  Dating rare mutations from small samples with dense marker data.

Authors:  Luke C Gandolfo; Melanie Bahlo; Terence P Speed
Journal:  Genetics       Date:  2014-05-30       Impact factor: 4.562

6.  A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population.

Authors:  Agnes L Nishimura; Ammar Al-Chalabi; Mayana Zatz
Journal:  Hum Genet       Date:  2005-09-27       Impact factor: 4.132

7.  Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.

Authors:  Alexandre Bolze; Bertrand Boisson; Barbara Bosch; Alexander Antipenko; Matthieu Bouaziz; Paul Sackstein; Malik Chaker-Margot; Vincent Barlogis; Tracy Briggs; Elena Colino; Aurora C Elmore; Alain Fischer; Ferah Genel; Angela Hewlett; Maher Jedidi; Jadranka Kelecic; Renate Krüger; Cheng-Lung Ku; Dinakantha Kumararatne; Alain Lefevre-Utile; Sam Loughlin; Nizar Mahlaoui; Susanne Markus; Juan-Miguel Garcia; Mathilde Nizon; Matias Oleastro; Malgorzata Pac; Capucine Picard; Andrew J Pollard; Carlos Rodriguez-Gallego; Caroline Thomas; Horst Von Bernuth; Austen Worth; Isabelle Meyts; Maurizio Risolino; Licia Selleri; Anne Puel; Sebastian Klinge; Laurent Abel; Jean-Laurent Casanova
Journal:  Proc Natl Acad Sci U S A       Date:  2018-08-02       Impact factor: 11.205

8.  Novel syntaxin 11 gene (STX11) mutation in three Argentinean patients with hemophagocytic lymphohistiocytosis.

Authors:  Silvia Danielian; Natalia Basile; Carlos Rocco; Emma Prieto; Jorge Rossi; Darío Barsotti; Paul A Roche; Andrea Bernasconi; Matías Oleastro; Marta Zelazko; Jorge Braier
Journal:  J Clin Immunol       Date:  2009-12-05       Impact factor: 8.317

9.  Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.

Authors:  Daniel P Gale; Elena Goicoechea de Jorge; H Terence Cook; Rubén Martinez-Barricarte; Andreas Hadjisavvas; Adam G McLean; Charles D Pusey; Alkis Pierides; Kyriacos Kyriacou; Yiannis Athanasiou; Konstantinos Voskarides; Constantinos Deltas; Andrew Palmer; Véronique Frémeaux-Bacchi; Santiago Rodriguez de Cordoba; Patrick H Maxwell; Matthew C Pickering
Journal:  Lancet       Date:  2010-08-25       Impact factor: 79.321

10.  Ashkenazi Parkinson's disease patients with the LRRK2 G2019S mutation share a common founder dating from the second to fifth centuries.

Authors:  Anat Bar-Shira; Carolyn M Hutter; Nir Giladi; Cyrus P Zabetian; Avi Orr-Urtreger
Journal:  Neurogenetics       Date:  2009-03-13       Impact factor: 2.660
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