(Q36420704)

14 August 2017

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title

Mendelian disorders deserve more attention (English)

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14 August 2017

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Stilianos Antonarakis

series ordinal

1

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14 August 2017

Jacques S Beckmann

2

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publication date

1 April 2006

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14 August 2017

published in

Nature Reviews Genetics

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14 August 2017

volume

7

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14 August 2017

issue

4

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14 August 2017

page(s)

277-282

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Finishing the euchromatic sequence of the human genome

14 August 2017

cites work

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The ENCODE (ENCyclopedia Of DNA Elements) Project

31 March 2020

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Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

31 March 2020

1 reference

OMIM passes the 1,000-disease-gene mark

31 March 2020

1 reference

Human Gene Mutation Database (HGMD): 2003 update

31 March 2020

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Functional profiling of the Saccharomyces cerevisiae genome

31 March 2020

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Full-genome RNAi profiling of early embryogenesis in Caenorhabditis elegans

31 March 2020

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Consanguinity and its relevance to clinical genetics.

31 March 2020

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Towards an understanding of the genetics of human male infertility: lessons from flies

31 March 2020

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A new dimension for the human genome project: towards comprehensive expression maps

31 March 2020

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Diagnostic genome profiling in mental retardation

31 March 2020

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

31 March 2020

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The European dimension for the mouse genome mutagenesis program

31 March 2020

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The knockout mouse project

31 March 2020

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Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

31 March 2020

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31 March 2020

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Hereditary Creutzfeldt-Jakob disease and fatal familial insomnia.

31 March 2020

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Mouse models of Alzheimer's disease: The long and filamentous road

31 March 2020

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A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice

31 March 2020

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Repeat instability: mechanisms of dynamic mutations

31 March 2020

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Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of exon 9: a functional link with disease penetrance

31 March 2020

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Modifier genetics: cystic fibrosis

31 March 2020

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Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias.

31 March 2020

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Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

31 March 2020

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Whole-genome patterns of common DNA variation in three human populations

31 March 2020

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The International HapMap Project

31 March 2020

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A haplotype map of the human genome

31 March 2020

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Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation

31 March 2020

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G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort

31 March 2020

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Epigenetic differences arise during the lifetime of monozygotic twins

31 March 2020

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Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

31 March 2020

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Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

31 March 2020

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An immune basis for malaria protection by the sickle cell trait

31 March 2020

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Epistasis and the genetics of human diseases

31 March 2020

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Modifier genes in mice and humans

31 March 2020

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Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

31 March 2020

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Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population

31 March 2020

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DISC1 and PDE4B are interacting genetic factors in schizophrenia that regulate cAMP signaling

31 March 2020

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Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease

31 March 2020

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Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

31 March 2020

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31 March 2020

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Molecular basis of facioscapulohumeral muscular dystrophy

31 March 2020

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APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

31 March 2020

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alpha-Synuclein locus triplication causes Parkinson's disease

31 March 2020

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Gene dosage and pathogenesis of Parkinson's disease

31 March 2020

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Segmental duplications and copy-number variation in the human genome

31 March 2020

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Large-scale copy number polymorphism in the human genome

31 March 2020

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Structural variation in the human genome

31 March 2020

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Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans

31 March 2020

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Conserved non-genic sequences - an unexpected feature of mammalian genomes

31 March 2020

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MicroRNAs: small RNAs with a big role in gene regulation

31 March 2020

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Non–coding RNA genes and the modern RNA world

31 March 2020

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From syndrome families to functional genomics

31 March 2020

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Protein complexes and proteome organization from yeast to man.

31 March 2020

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Comparative assessment of large-scale data sets of protein-protein interactions

31 March 2020

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The Fanconi anaemia/BRCA pathway

31 March 2020

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31 March 2020

Identifiers

DOI

10.1038/NRG1826

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Dimensions Publication ID

14 August 2017

1051780838

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