Literature DB >> 9450896

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.

S E Antonarakis1.   

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Year:  1998        PMID： 9450896     DOI： 10.1002/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.0.CO;2-O

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


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  146 in total

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

Authors: 
Journal:  J Inherit Metab Dis       Date:  1999-08       Impact factor: 4.982

2.  N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom.

Authors:  L Kalaydjieva; D Gresham; R Gooding; L Heather; F Baas; R de Jonge; K Blechschmidt; D Angelicheva; D Chandler; P Worsley; A Rosenthal; R H King; P K Thomas
Journal:  Am J Hum Genet       Date:  2000-05-30       Impact factor: 11.025

Review 3.  Genetic testing in acute and chronic pancreatitis.

Authors:  R K Rolston; J A Kant
Journal:  Curr Gastroenterol Rep       Date:  2001-04

4.  Using denaturing HPLC for SNP discovery and genotyping, and establishing the linkage disequilibrium pattern for the all-trans-retinol dehydrogenase (RDH8) gene.

Authors:  Wei Han; Shea Ping Yip; Jing Wang; Maurice K H Yap
Journal:  J Hum Genet       Date:  2003-12-06       Impact factor: 3.172

5.  Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis.

Authors:  P T Clayton; A Verrips; E Sistermans; A Mann; G Mieli-Vergani; R Wevers
Journal:  J Inherit Metab Dis       Date:  2002-10       Impact factor: 4.982

6.  Detection of genetic variation in KCNQ1 gene by high-resolution melting analysis in a prospective-based series of postmortem negative sudden death: comparison of results obtained in fresh frozen and formalin-fixed paraffin-embedded tissues.

Authors:  Audrey Farrugia; Christine Keyser; Bertrand Ludes
Journal:  Int J Legal Med       Date:  2012-03-09       Impact factor: 2.686

7.  Immunological and genetic analysis of 65 patients with a clinical suspicion of X linked hyper-IgM.

Authors:  K C Gilmour; D Walshe; S Heath; G Monaghan; S Loughlin; T Lester; G Norbury; C M Cale
Journal:  Mol Pathol       Date:  2003-10

8.  Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations.

Authors:  Karolina Banghova; Eva Al Taji; Ondrej Cinek; Dana Novotna; Radka Pourova; Jirina Zapletalova; Olga Hnikova; Jan Lebl
Journal:  Eur J Pediatr       Date:  2007-09-18       Impact factor: 3.183

9.  Alleles of the NRAMP1 gene are risk factors for pediatric tuberculosis disease.

Authors:  Suneil Malik; Laurent Abel; Heather Tooker; Audrey Poon; Leah Simkin; Manon Girard; Gerald J Adams; Jeffrey R Starke; Kimberly C Smith; Edward A Graviss; James M Musser; Erwin Schurr
Journal:  Proc Natl Acad Sci U S A       Date:  2005-08-15       Impact factor: 11.205

10.  Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.

Authors:  Marc S Greenblatt; Lawrence C Brody; William D Foulkes; Maurizio Genuardi; Robert M W Hofstra; Magali Olivier; Sharon E Plon; Rolf H Sijmons; Olga Sinilnikova; Amanda B Spurdle
Journal:  Hum Mutat       Date:  2008-11       Impact factor: 4.878
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