(Q24540095)

6 July 2017

title

Molecular analysis of SALL1 mutations in Townes-Brocks syndrome (English)

1 reference

6 July 2017

main subject

Townes-Brocks syndrome

1 reference

Kohlhase J

1

J

Kohlhase

1 reference

6 July 2017

Taschner PE

2

P E

Taschner

1 reference

6 July 2017

Burfeind P

3

P

Burfeind

1 reference

6 July 2017

Pasche B

4

B

Pasche

1 reference

6 July 2017

Newman B

5

B

Newman

1 reference

6 July 2017

Blanck C

6

C

Blanck

1 reference

6 July 2017

Breuning MH

7

M H

Breuning

1 reference

6 July 2017

ten Kate LP

8

L P

ten Kate

1 reference

6 July 2017

Maaswinkel-Mooy P

9

P

Maaswinkel-Mooy

1 reference

6 July 2017

Mitulla B

10

B

Mitulla

1 reference

6 July 2017

Seidel J

11

J

Seidel

1 reference

6 July 2017

Kirkpatrick SJ

12

S J

Kirkpatrick

1 reference

6 July 2017

Pauli RM

13

R M

Pauli

1 reference

6 July 2017

Wargowski DS

14

D S

Wargowski

1 reference

6 July 2017

Devriendt K

15

K

Devriendt

1 reference

6 July 2017

Proesmans W

16

W

Proesmans

1 reference

6 July 2017

Gabrielli O

17

O

Gabrielli

1 reference

6 July 2017

Coppa GV

18

G V

Coppa

1 reference

6 July 2017

Wesby-van Swaay E

19

E

Wesby-van Swaay

1 reference

6 July 2017

Trembath RC

20

R C

Trembath

1 reference

6 July 2017

Schinzel AA

21

A A

Schinzel

1 reference

6 July 2017

Reardon W

22

W

Reardon

1 reference

6 July 2017

Seemanova E

23

E

Seemanova

1 reference

6 July 2017

Engel W

24

W

Engel

1 reference

6 July 2017

language of work or name

English

0 references

publication date

1 February 1999

1 reference

American Journal of Human Genetics

6 July 2017

published in

1 reference

6 July 2017

volume

64

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6 July 2017

issue

2

1 reference

6 July 2017

page(s)

435-445

1 reference

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

6 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377753

Mutation in GLI3 in postaxial polydactyly type A

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377753

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377753

A new bacteriophage P1-derived vector for the propagation of large human DNA fragments

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377753

A new family with the Townes-Brocks syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377753

The Townes-Brocks syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377753

Familial anal abnormality

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377753

Autosomal dominant transmission of a syndrome of anal, ear, renal, and radial congenital malformations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377753

27 September 2017

Strike three for GLI3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377753

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377753

Description of a patient with difficult nosological classification: Goldenhar syndrome or Townes-Brocks syndrome?

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377753

Townes-Brocks syndrome in two mentally retarded youngsters.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377753

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377753

Point mutations in human GLI3 cause Greig syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377753

Medaka spalt acts as a target gene of hedgehog signaling.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377753

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377753

Townes-Brocks syndrome associated with mental retardation.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377753

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377753

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377753

Hearing loss in Townes-Brocks syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377753

Syndrome of imperforate anus, abnormalities of hands and feet, satyr ears, and sensorineural deafness.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377753

Phenotypic variability in Townes-Brocks syndrome

29 November 2018

1 reference

12 December 2020

Familial occurrence of hemifacial microsomia with radial limb defects

1 reference

12 December 2020

Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum

1 reference

12 December 2020

Townes-Brocks syndrome presenting as end stage renal failure

1 reference

12 December 2020

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

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F302238

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/302238

1 reference

release_nbn6mc5hjbg3jizyjery5gwez4

6 July 2017

Fatcat ID

0 references

OpenCitations bibliographic resource ID

5086936

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

6 July 2017

1 reference