Literature DB >> 22495976

A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America.

Catrina Loucks1, Jillian S Parboosingh, Jessica X Chong, Carole Ober, Victoria M Siu, Robert A Hegele, C Anthony Rupar, D Ross McLeod, Alfredo Pinto, Albert E Chudley, A Micheil Innes.   

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Year:  2012        PMID： 22495976      PMCID： PMC4247856          DOI： 10.1002/ajmg.a.35302

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  13 in total

1.  Restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity.

Authors:  Jeffrey H Miner
Journal:  Am J Med Genet A       Date:  2010-08       Impact factor: 2.802

Review 2.  Unique disease heritage of the Dutch-German Mennonite population.

Authors:  Noelle C Orton; A Micheil Innes; Albert E Chudley; N Torben Bech-Hansen
Journal:  Am J Med Genet A       Date:  2008-04-15       Impact factor: 2.802

3.  History and relevance of the Hutterite population for genetic studies.

Authors:  J A Hostetler
Journal:  Am J Med Genet       Date:  1985-11

4.  Restrictive dermopathy.

Authors:  M H Reed; A E Chudley; M Kroeker; D M Wilmot
Journal:  Pediatr Radiol       Date:  1993

5.  Autosomal-recessive aplasia cutis congenita--report of two affected sibs.

Authors:  H V Toriello; J V Higgins; D F Waterman
Journal:  Am J Med Genet       Date:  1983-05

6.  Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

Authors:  Claire L Navarro; Juan Cadiñanos; Annachiara De Sandre-Giovannoli; Rafaëlle Bernard; Sébastien Courrier; Irène Boccaccio; Amandine Boyer; Wim J Kleijer; Anja Wagner; Fabienne Giuliano; Frits A Beemer; Jose M Freije; Pierre Cau; Raoul C M Hennekam; Carlos López-Otín; Catherine Badens; Nicolas Lévy
Journal:  Hum Mol Genet       Date:  2005-04-20       Impact factor: 6.150

Review 7.  Clinical genetics and the Hutterite population: a review of Mendelian disorders.

Authors:  Kym M Boycott; Jillian S Parboosingh; Bernie N Chodirker; R Brian Lowry; D Ross McLeod; Jackie Morris; Cheryl R Greenberg; Albert E Chudley; Francois P Bernier; Julian Midgley; Lisbeth Birk Møller; A Micheil Innes
Journal:  Am J Med Genet A       Date:  2008-04-15       Impact factor: 2.802

8.  Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania.

Authors:  E G Puffenberger
Journal:  Am J Med Genet C Semin Med Genet       Date:  2003-08-15       Impact factor: 3.908

9.  Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: a fatal syndrome in Hutterite and Mennonite kindreds.

Authors:  R B Lowry; G A Machin; K Morgan; D Mayock; L Marx
Journal:  Am J Med Genet       Date:  1985-11

Review 10.  Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature.

Authors:  Paulo Morais; Sofia Magina; Maria do Céu Ribeiro; Manuela Rodrigues; José Manuel Lopes; Huong Le Thi Thanh; Manfred Wehnert; Hercília Guimarães
Journal:  Eur J Pediatr       Date:  2008-11-20       Impact factor: 3.183
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  5 in total

1.  A population-based study of autosomal-recessive disease-causing mutations in a founder population.

Authors:  Jessica X Chong; Rebecca Ouwenga; Rebecca L Anderson; Darrel J Waggoner; Carole Ober
Journal:  Am J Hum Genet       Date:  2012-09-13       Impact factor: 11.025

2.  New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.

Authors:  Claire Laure Navarro; Vera Esteves-Vieira; Sébastien Courrier; Amandine Boyer; Thuy Duong Nguyen; Le Thi Thanh Huong; Peter Meinke; Winnie Schröder; Valérie Cormier-Daire; Yves Sznajer; David J Amor; Kristina Lagerstedt; Martine Biervliet; Peter C van den Akker; Pierre Cau; Patrice Roll; Nicolas Lévy; Catherine Badens; Manfred Wehnert; Annachiara De Sandre-Giovannoli
Journal:  Eur J Hum Genet       Date:  2013-10-30       Impact factor: 4.246

3.  An estimate of the average number of recessive lethal mutations carried by humans.

Authors:  Ziyue Gao; Darrel Waggoner; Matthew Stephens; Carole Ober; Molly Przeworski
Journal:  Genetics       Date:  2015-02-18       Impact factor: 4.562

4.  Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.

Authors:  Barbara Triggs-Raine; Tamara Dyck; Kym M Boycott; A Micheil Innes; Carole Ober; Jillian S Parboosingh; Alexis Botkin; Cheryl R Greenberg; Elizabeth L Spriggs
Journal:  Mol Genet Genomic Med       Date:  2016-01-19       Impact factor: 2.183

5.  Novel mutations in LMNA A/C gene and associated phenotypes.

Authors:  Roberta Petillo; Paola D'Ambrosio; Annalaura Torella; Antonella Taglia; Esther Picillo; Alessandro Testori; Manuela Ergoli; Gerardo Nigro; Giulio Piluso; Vincenzo Nigro; Luisa Politano
Journal:  Acta Myol       Date:  2015-12
  5 in total

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