(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

Nature Reviews Genetics

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14 August 2017

7

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14 August 2017

277-282

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14 August 2017

4

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https://scigraph.springernature.com/pub.10.1038/nrg1826

14 August 2017

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cites work

Finishing the euchromatic sequence of the human genome

1 reference

The ENCODE (ENCyclopedia Of DNA Elements) Project

31 March 2020

1 reference

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

1 reference

Functional profiling of the Saccharomyces cerevisiae genome

31 March 2020

1 reference

Full-genome RNAi profiling of early embryogenesis in Caenorhabditis elegans

31 March 2020

1 reference

Consanguinity and its relevance to clinical genetics.

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

Diagnostic genome profiling in mental retardation

31 March 2020

1 reference

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

31 March 2020

1 reference

The European dimension for the mouse genome mutagenesis program

31 March 2020

1 reference

The knockout mouse project

31 March 2020

1 reference

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

31 March 2020

1 reference

31 March 2020

1 reference

Hereditary Creutzfeldt-Jakob disease and fatal familial insomnia.

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

Repeat instability: mechanisms of dynamic mutations

31 March 2020

1 reference

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

1 reference

Modifier genetics: cystic fibrosis

31 March 2020

1 reference

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

31 March 2020

1 reference

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

31 March 2020

1 reference

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

31 March 2020

1 reference

The International HapMap Project

31 March 2020

1 reference

A haplotype map of the human genome

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

Epigenetic differences arise during the lifetime of monozygotic twins

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

An immune basis for malaria protection by the sickle cell trait

31 March 2020

1 reference

Epistasis and the genetics of human diseases

31 March 2020

1 reference

Modifier genes in mice and humans

31 March 2020

1 reference

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

31 March 2020

1 reference

Molecular basis of facioscapulohumeral muscular dystrophy

31 March 2020

1 reference

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

31 March 2020

1 reference

alpha-Synuclein locus triplication causes Parkinson's disease

31 March 2020

1 reference

Gene dosage and pathogenesis of Parkinson's disease

31 March 2020

1 reference

Segmental duplications and copy-number variation in the human genome

31 March 2020

1 reference

Large-scale copy number polymorphism in the human genome

31 March 2020

1 reference

Structural variation in the human genome

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

MicroRNAs: small RNAs with a big role in gene regulation

31 March 2020

1 reference

Non–coding RNA genes and the modern RNA world

31 March 2020

1 reference

From syndrome families to functional genomics

31 March 2020

1 reference

Protein complexes and proteome organization from yeast to man.

31 March 2020

1 reference

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

31 March 2020

1 reference

The Fanconi anaemia/BRCA pathway

31 March 2020

1 reference

31 March 2020

Identifiers

DOI

10.1038/NRG1826

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PubMed ID

16534515

Dimensions Publication ID

14 August 2017

0 references

1 reference

PubMed ID

16534515