Literature DB >> 11810281

The HUGO Gene Nomenclature Committee (HGNC).

S Povey1, R Lovering, E Bruford, M Wright, M Lush, H Wain.   

Abstract

Mesh:

Year:  2001        PMID: 11810281     DOI: 10.1007/s00439-001-0615-0

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


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  173 in total

1.  GALA, a database for genomic sequence alignments and annotations.

Authors:  Belinda Giardine; Laura Elnitski; Cathy Riemer; Izabela Makalowska; Scott Schwartz; Webb Miller; Ross C Hardison
Journal:  Genome Res       Date:  2003-04       Impact factor: 9.043

2.  Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 Rec NciI alleles in Gaucher disease patients.

Authors:  Anna Díaz-Font; Bru Cormand; Mariana Blanco; Néstor Chamoles; Amparo Chabás; Daniel Grinberg; Lluïsa Vilageliu
Journal:  Hum Genet       Date:  2003-02-14       Impact factor: 4.132

3.  Molecular and evolutionary analysis of the growth-controlling region on the human Y chromosome.

Authors:  Stefan Kirsch; Birgit Weiss; Klaus Zumbach; Gudrun Rappold
Journal:  Hum Genet       Date:  2003-10-25       Impact factor: 4.132

4.  Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France.

Authors:  Virginie Scotet; Marie-Pierre Audrézet; Michel Roussey; Gilles Rault; Martine Blayau; Marc De Braekeleer; Claude Férec
Journal:  Hum Genet       Date:  2003-05-27       Impact factor: 4.132

5.  Cis-acting variation in the expression of a high proportion of genes in human brain.

Authors:  Nicholas J Bray; Paul R Buckland; Michael J Owen; Michael C O'Donovan
Journal:  Hum Genet       Date:  2003-05-01       Impact factor: 4.132

6.  Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin.

Authors:  K Miller; B Pabst; H Ritter; P Nürnberg; R Siebert; J Schmidtke; M Arslan-Kirchner
Journal:  Hum Genet       Date:  2003-02-06       Impact factor: 4.132

7.  SOURCE: a unified genomic resource of functional annotations, ontologies, and gene expression data.

Authors:  Maximilian Diehn; Gavin Sherlock; Gail Binkley; Heng Jin; John C Matese; Tina Hernandez-Boussard; Christian A Rees; J Michael Cherry; David Botstein; Patrick O Brown; Ash A Alizadeh
Journal:  Nucleic Acids Res       Date:  2003-01-01       Impact factor: 16.971

8.  Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.

Authors:  Anna Caciotti; Tiziana Bardelli; John Cunningham; Alessandra D'Azzo; Enrico Zammarchi; Amelia Morrone
Journal:  Hum Genet       Date:  2003-03-19       Impact factor: 4.132

9.  The Gene Ontology Annotation (GOA) Database: sharing knowledge in Uniprot with Gene Ontology.

Authors:  Evelyn Camon; Michele Magrane; Daniel Barrell; Vivian Lee; Emily Dimmer; John Maslen; David Binns; Nicola Harte; Rodrigo Lopez; Rolf Apweiler
Journal:  Nucleic Acids Res       Date:  2004-01-01       Impact factor: 16.971

10.  Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation.

Authors:  Tero Ylisaukko-oja; Karola Rehnström; Raija Vanhala; Carola Tengström; Jaana Lähdetie; Irma Järvelä
Journal:  Hum Genet       Date:  2003-11-04       Impact factor: 4.132

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