(Q33325218)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1836105%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

title

Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1836105%20AND%20SRC:MED&resulttype=core&format=json

chromosomal deletion syndrome

19 September 2019

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1836105

6 December 2022

7

Latos-Bielenska A

A. Latos-Bielenska

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1836105%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1836105

6 December 2022

Hermann-Josef Lüdecke

1

object named as

H. J. Lüdecke

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1836105

6 December 2022

author name string

C. Johnson

2

1 reference

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6 December 2022

M. J. Wagner

3

1 reference

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6 December 2022

D. E. Wells

4

1 reference

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6 December 2022

C. Turleau

5

1 reference

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6 December 2022

N. Tommerup

6

1 reference

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6 December 2022

K. R. Sandig

8

1 reference

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6 December 2022

P. Meinecke

9

1 reference

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6 December 2022

B. Zabel

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1836105

6 December 2022

language of work or name

English

0 references

publication date

1 December 1991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1836105%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

19 September 2019

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1836105/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1836105

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1836105/pdf/?tool=EBI

6 December 2022

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1836105

https://europepmc.org/articles/PMC1686450

6 December 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1836105

https://europepmc.org/articles/PMC1686450?pdf=render

6 December 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1836105

American Journal of Human Genetics

6 December 2022

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1836105%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

volume

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1836105%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1836105%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

page(s)

1197-1206

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1836105%20AND%20SRC:MED&resulttype=core&format=json

Familial tricho-rhino-phalangeal syndrome Type II.

19 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686450

Interstitial deletion of 8q. Occurrence in a patient with multiple exostoses and unusual facies.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686450

The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686450

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686450

Isolation and regional localization of DNA segments revealing polymorphic loci from human chromosome 13

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686450

Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686450

The critical segment for the Langer-Giedion syndrome: 8q24.11----q24.12.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686450

Microdeletion syndromes, balanced translocations, and gene mapping

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686450

Contiguous gene syndromes: a component of recognizable syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686450

p380-8A 1.8 SaSs, a single copy clone 5' of c-myc at 8q24 which recognizes an SstI polymorphism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686450

Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686450

Cloning defined regions of the human genome by microdissection of banded chromosomes and enzymatic amplification

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686450

A common language for physical mapping of the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686450

A computer program for choosing optimal oligonucleotides for filter hybridization, sequencing and in vitro amplification of DNA

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686450

Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686450

Asp700 RFLP at the D8S45 locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686450

Molecular analysis of overlapping chromosomal deletions in patients with Langer-Giedion syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686450

High Resolution of Human Chromosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686450

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686450

Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1686450

The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities?

31 October 2018

1 reference

12 December 2020

8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I

1 reference

12 December 2020

A final word on the tricho-rhino-phalangeal syndromes

1 reference

12 December 2020

Familial syndrome with some features of the Langer-Giedion syndrome, and paracentric inversion of chromosome 8, inv 8 (q11.23----q21.1)

1 reference

12 December 2020

The thyroglobulin gene is syntenic with the MYC and MOS protooncogenes and carbonic anhydrase II and maps to chromosome 14 in cattle

1 reference

12 December 2020

Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion

1 reference

12 December 2020

Langer-Giedion syndrome with and without del 8q. assignment of critical segment to 8q23

1 reference

12 December 2020

Langer-Giedion syndrome with interstitial 8q-deletion

1 reference

12 December 2020

Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II

1 reference

12 December 2020

Detection of submicroscopic deletions and a DNA polymorphism at the retinoblastoma locus

1 reference

12 December 2020

Fractionation of large mammalian DNA restriction fragments using vertical pulsed-field gradient gel electrophoresis

1 reference

12 December 2020

The human thyroglobulin gene: A polymorphic marker localized distal to C-MYC on chromosome 8 band q24

1 reference

12 December 2020

Intellectual competence in a girl with Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II)

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1836105%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

1 reference