What's in a face? (Q40946787)

25 September 2017

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title

What's in a face? (English)

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25 September 2017

Winter RM

1

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25 September 2017

language of work or name

English

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publication date

1 February 1996

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25 September 2017

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25 September 2017

volume

12

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25 September 2017

issue

2

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25 September 2017

page(s)

124-129

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Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group

25 September 2017

cites work

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The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

21 January 2018

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Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

21 January 2018

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Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]

21 January 2018

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Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21.

21 January 2018

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Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2

21 January 2018

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A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene

21 January 2018

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Mapping a gene for Noonan syndrome to the long arm of chromosome 12

21 January 2018

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Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome

21 January 2018

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Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene

21 January 2018

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Cellular distribution of lesions in Batten disease.

21 January 2018

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21 January 2018

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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

21 January 2018

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It was a very good year for DNA repair

21 January 2018

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Genetic linkage of Werner's syndrome to five markers on chromosome 8

21 January 2018

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The Bloom's syndrome gene product is homologous to RecQ helicases

21 January 2018

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Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

21 January 2018

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GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

21 January 2018

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Toward a molecular understanding of skeletal development

21 January 2018

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7 January 2021

Craniofacial syndromes: no such thing as a single gene disease

1 reference

7 January 2021

Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.

1 reference

7 January 2021

Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity

1 reference

7 January 2021

Oculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum?

1 reference

7 January 2021

The facio-audio-symphalangism syndrome: report of a case and review of the literature

1 reference

7 January 2021

The acrocallosal syndrome and Greig syndrome are not allelic disorders

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7 January 2021

Hydrolethalus syndrome

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7 January 2021

Noonan syndrome: the changing phenotype

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7 January 2021

Genetic basis of DiGeorge and velocardiofacial syndromes.

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7 January 2021

Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype

1 reference

7 January 2021

Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor

1 reference

7 January 2021

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

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7 January 2021

Smart transcription factors

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7 January 2021

Identifiers

DOI

10.1038/NG0296-124

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Dimensions Publication ID

25 September 2017

1027454059

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