(Q34096518)

31 July 2017

1 reference

title

SALL1 mutations in Townes-Brocks syndrome and related disorders (English)

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31 July 2017

main subject

Townes-Brocks syndrome

1 reference

Kohlhase J

1

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31 July 2017

publication date

1 December 2000

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31 July 2017

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31 July 2017

volume

16

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31 July 2017

issue

6

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31 July 2017

page(s)

460-466

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Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome

31 July 2017

cites work

1 reference

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Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1

21 January 2018

1 reference

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RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer

21 January 2018

1 reference

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A gene complex acting downstream of dpp in Drosophila wing morphogenesis.

21 January 2018

1 reference

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A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype

21 January 2018

1 reference

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A perfect message: RNA surveillance and nonsense-mediated decay

21 January 2018

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Xenopus Xsal-1, a vertebrate homolog of the region specific homeotic gene spalt of Drosophila

21 January 2018

1 reference

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Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

21 January 2018

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Clinical and molecular cytogenetic studies of a large de novo interstitial deletion 16q11.2-16q21 including the putative transcription factor gene SALL1.

21 January 2018

1 reference

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Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt

21 January 2018

1 reference

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Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C460%3A%3AAID-HUMU2%3E3.0.CO%3B2-4

Molecular analysis of SALL1 mutations in Townes-Brocks syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C460%3A%3AAID-HUMU2%3E3.0.CO%3B2-4

Two distinct mechanisms for long-range patterning by Decapentaplegic in the Drosophila wing.

21 January 2018

1 reference

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Direct and long-range action of a DPP morphogen gradient.

21 January 2018

1 reference

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The mouse homolog of the region specific homeotic gene spalt of Drosophila is expressed in the developing nervous system and in mesoderm-derived structures

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C460%3A%3AAID-HUMU2%3E3.0.CO%3B2-4

Mutation in GLI3 in postaxial polydactyly type A

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C460%3A%3AAID-HUMU2%3E3.0.CO%3B2-4

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations

21 January 2018

1 reference

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Disruption of a putative Cys-zinc interaction eliminates the biological activity of the Krüppel finger protein

21 January 2018

1 reference

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Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C460%3A%3AAID-HUMU2%3E3.0.CO%3B2-4

Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C460%3A%3AAID-HUMU2%3E3.0.CO%3B2-4

Point mutations in human GLI3 cause Greig syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C460%3A%3AAID-HUMU2%3E3.0.CO%3B2-4

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C460%3A%3AAID-HUMU2%3E3.0.CO%3B2-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200012%2916%3A6%3C460%3A%3AAID-HUMU2%3E3.0.CO%3B2-4

10.1002/1098-1004(200012)16:6<460::AID-HUMU2>3.0.CO;2-4

21 January 2018

Identifiers

DOI

1 reference

31 July 2017

1 reference