(Q24539036)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677303%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

Familial syndromic esophageal atresia maps to 2p23-p24 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677303%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

4

1 reference

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4 November 2019

Hans van Bokhoven

13

1 reference

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4 November 2019

author name string

Celli J

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677303%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

van Beusekom E

2

1 reference

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4 November 2019

Hennekam RC

3

1 reference

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4 November 2019

Smeets DF

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677303%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

de Córdoba SR

6

1 reference

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4 November 2019

Innis JW

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677303%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Frydman M

8

1 reference

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4 November 2019

König R

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677303%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Kingston H

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677303%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Tolmie J

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677303%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Govaerts LC

12

1 reference

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4 November 2019

Brunner HG

14

1 reference

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4 November 2019

language of work or name

English

0 references

publication date

1 February 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677303%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

4 November 2019

published in

1 reference

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4 November 2019

volume

66

1 reference

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4 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677303%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

page(s)

436-444

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677303%20AND%20SRC:MED&resulttype=core&format=json

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

4 November 2019

cites work

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288096

24 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288096

A comprehensive genetic map of the human genome based on 5,264 microsatellites

27 September 2017

1 reference

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A simple salting out procedure for extracting DNA from human nucleated cells

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288096

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288096

Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288096

Isolation of the Pax9 cDNA from adult human esophagus

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288096

Homeobox genes and connective tissue patterning

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288096

Sonic hedgehog is essential to foregut development

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288096

Targeted disruption of hoxc-4 causes esophageal defects and vertebral transformations

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288096

Microdeletion 22q11 and oesophageal atresia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288096

A chromosomal deletion map of human 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=1288096

Feingold syndrome: report of a new family and review

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288096

MODED: microcephaly-oculo-digito-esophageal-duodenal 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=1288096

Autosomal dominant microcephaly with normal intelligence, short palpebral fissures, and digital anomalies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288096

Digital anomalies, microcephaly, and normal intelligence: new syndrome or Feingold 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=1288096

Spatial and temporal changes in the expression of fibroglycan (syndecan-2) during mouse embryonic development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288096

Expression of the heparin-binding cytokines, midkine (MK) and HB-GAM (pleiotrophin) is associated with epithelial-mesenchymal interactions during fetal development and organogenesis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288096

Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288096

Familial congenital esophageal atresia. Personal case report and review of the literature

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288096

Autosomal dominant inheritance of abnormalities of the hands and feet with short palpebral fissures, variable microcephaly with learning disability, and oesophageal/duodenal atresia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288096

Oesophageal atresia in the South West of England

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288096

Familial occurrence of esophageal atresia with and without tracheoesophagel fistula: report of two unusual kindreds

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288096

The effects of Down syndrome and other chromosomal abnormalities on survival and management in oesophageal atresia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288096

Syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288096

Autosomal dominant microcephaly without mental retardation.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288096

Verification of isochromosome 12p and identification of other chromosome 12 aberrations in gonadal and extragonadal human germ cell tumors by bicolor double fluorescence in situ hybridization

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288096

Temporally-regulated retinoic acid depletion produces specific neural crest, ocular and nervous system defects.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288096

Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288096

Identification of a mechanism to localize generation of retinoic acid in rat embryos

29 November 2018

1 reference

12 December 2020

Retinoic acid and retinoic acid receptors in craniofacial development

1 reference

12 December 2020

Etiological study on isolated esophageal atresia

1 reference

12 December 2020

[Familial occurrence of esophageal atresia]

1 reference

12 December 2020

Additional congenital anomalies in babies with gut atresia or stenosis: when to investigate, and which investigation

1 reference

12 December 2020

Identifiers

DOI

10.1086/302779

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677303%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677303%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

PubMed publication ID

10677303

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677303%20AND%20SRC:MED&resulttype=core&format=json