(Q35813867)

10 August 2017

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title

From syndrome families to functional genomics (English)

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10 August 2017

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1

Han G Brunner

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10 August 2017

Marc A van Driel

2

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10 August 2017

1 July 2004

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10 August 2017

Nature Reviews Genetics

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10 August 2017

5

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10 August 2017

545-551

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10 August 2017

7

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https://scigraph.springernature.com/pub.10.1038/nrg1383

10 August 2017

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Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus

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Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

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An analysis of statistical term strength and its use in the indexing and retrieval of molecular biology texts

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Pathogenesis of split-hand/split-foot malformation.

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Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis

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Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human

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FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate

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Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia

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Molecular-pathogenetic classification of genetic disorders of the skeleton

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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

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31 March 2020

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Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes

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Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene

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Smith-Lemli-Opitz syndromes: Do they include the Pallister-Hall syndrome?

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Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis

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31 March 2020

Identifiers

DOI

10.1038/NRG1383

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10 August 2017

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PubMed ID

15211356