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What's in a face?

Published in: Nature Genetics

Date of publication: February 1, 1996

Language: English

Bibliographic databases:

Cites articles 32

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Noonan syndrome: the changing phenotype
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Progeria
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Genetic linkage of Werner's syndrome to five markers on chromosome 8
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The acrocallosal syndrome and Greig syndrome are not allelic disorders
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Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

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A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene
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Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.

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Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype
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Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]
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Mapping a gene for Noonan syndrome to the long arm of chromosome 12
January 1, 1994

It was a very good year for DNA repair
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Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity
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Genetic basis of DiGeorge and velocardiofacial syndromes
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Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2
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Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene
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The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH
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Toward a molecular understanding of skeletal development
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Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

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Human genetics. Smart transcription factors

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Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group
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Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21.

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