Literature DB >> 9633813

Proof of "disease causing" mutation.

R G Cotton1, C R Scriver.   

Abstract

Mesh：

Year:  1998        PMID： 9633813     DOI： 10.1002/(SICI)1098-1004(1998)12:1<1::AID-HUMU1>3.0.CO;2-M

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  42 in total

1.  Diagnostic uses of DNA analysis: powerful but problematic.

Authors: 
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Review 2.  [Pseudoxanthoma elasticum].

Authors:  M S Ladewig; C Götting; C Szliska; P C Issa; H-M Helb; I Bedenicki; H P N Scholl; F G Holz
Journal:  Ophthalmologe       Date:  2006-06       Impact factor: 1.059

3.  Classification of Missense Mutations of Disease Genes.

Authors:  Xi Zhou; Edwin S Iversen; Giovanni Parmigiani
Journal:  J Am Stat Assoc       Date:  2005       Impact factor: 5.033

4.  Outcome of ABCA4 microarray screening in routine clinical practice.

Authors:  Paul J G Ernest; Camiel J F Boon; B Jeroen Klevering; Lies H Hoefsloot; Carel B Hoyng
Journal:  Mol Vis       Date:  2009-12-20       Impact factor: 2.367

5.  The genetics and neuropathology of neurodegenerative disorders: perspectives and implications for research and clinical practice.

Authors:  Vivianna M Van Deerlin
Journal:  Acta Neuropathol       Date:  2012-09       Impact factor: 17.088

6.  New ABCC6 gene mutations in German pseudoxanthoma elasticum patients.

Authors:  Doris Hendig; Veronika Schulz; Jutta Eichgrün; Christiane Szliska; Christian Götting; Knut Kleesiek
Journal:  J Mol Med (Berl)       Date:  2004-11-10       Impact factor: 4.599

7.  Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans.

Authors:  C B Item; S Stöckler-Ipsiroglu; C Stromberger; A Mühl; M G Alessandrì; M C Bianchi; M Tosetti; F Fornai; G Cioni
Journal:  Am J Hum Genet       Date:  2001-09-10       Impact factor: 11.025

Review 8.  The incidence of Lynch syndrome.

Authors:  Albert de la Chapelle
Journal:  Fam Cancer       Date:  2005       Impact factor: 2.375

9.  Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.

Authors:  Carol Jean Saunders; Neil Andrew Miller; Sarah Elizabeth Soden; Darrell Lee Dinwiddie; Aaron Noll; Noor Abu Alnadi; Nevene Andraws; Melanie LeAnn Patterson; Lisa Ann Krivohlavek; Joel Fellis; Sean Humphray; Peter Saffrey; Zoya Kingsbury; Jacqueline Claire Weir; Jason Betley; Russell James Grocock; Elliott Harrison Margulies; Emily Gwendolyn Farrow; Michael Artman; Nicole Pauline Safina; Joshua Erin Petrikin; Kevin Peter Hall; Stephen Francis Kingsmore
Journal:  Sci Transl Med       Date:  2012-10-03       Impact factor: 17.956

10.  Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63.

Authors:  E Waanders; H Venselaar; R H M te Morsche; D B de Koning; P S Kamath; V E Torres; S Somlo; J P H Drenth
Journal:  Clin Genet       Date:  2010-01-20       Impact factor: 4.438
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