(Q34043801)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

Alina Midro

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

H Kayserili

23

0 references

author name string

von Holtum D

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

H J Lüdecke

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

J Schaper

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

P Meinecke

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

P Momeni

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

S Gross

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

H Hirche

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

M J Abramowicz

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

B Albrecht

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

C Apacik

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

H J Christen

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

U Claussen

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

K Devriendt

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

E Fastnacht

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

A Forderer

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

U Friedrich

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

T H Goodship

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

M Greiwe

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

H Hamm

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

R C Hennekam

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

G K Hinkel

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

F Majewski

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

M Mathieu

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

R McLeod

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

U Moog

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

T Nagai

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

N Niikawa

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

K H Orstavik

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

E Plöchl

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

C Seitz

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

J Schmidtke

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

L Tranebjaerg

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

M Tsukahara

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

B Wittwer

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

B Zabel

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

G Gillessen-Kaesbach

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

B Horsthemke

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

language of work or name

English

0 references

publication date

7 December 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

2 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

volume

68

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

page(s)

81-91

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8.

2 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234936

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234936

Nonsense-mediated mRNA decay in health and disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234936

A de nevo complex t(7;13;8) translocation with a deletion in the TRPS gene region

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234936

A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234936

Trichorhinophalangeal syndrome type III.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234936

Zinc finger-mediated protein interactions modulate Ikaros activity, a molecular control of lymphocyte development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234936

Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234936

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234936

Metacarpophalangeal Length in the Evaluation of Skeletal Malformation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234936

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234936

Heights and Weights of Turkish Children

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234936

Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234936

Prometaphase chromosomes in the tricho-rhino-phalangeal syndrome type I.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234936

IBM-PC compatible software for establishing metacarpophalangeal pattern profiles

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234936

The trichorhinophalangeal syndrome: study of 16 patients in one family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234936

The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234936

A bibliography covering the use of metacarpophalangeal pattern profile analysis in bone dysplasias, congenital malformation syndromes, and other disorders.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234936

Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234936

Ruvalcaba syndrome: autosomal dominant inheritance

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234936

The hand in the trichorhinophalangeal syndrome

28 October 2018

1 reference

12 December 2020

The Sugio-Kajii syndrome, proposed tricho-rhino-phalangeal syndrome type III

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

Another family with tricho-rhino-phalangeal syndrome type III (Sugio-Kajii syndrome)

1 reference

12 December 2020

Tricho-rhino-phalangeal syndrome type III

1 reference

12 December 2020

Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II

1 reference

12 December 2020

Trichorhinophalangeal syndrome type I in monozygotic twins discordant for hip pathology. Report on the morphological evolution of cone-shaped epiphyses and the unusual pattern of skeletal maturation

1 reference

12 December 2020

Sporadic case of trichorhinophalangeal syndrome type III in a European patient

1 reference

12 December 2020

Identifiers

DOI

10.1086/316926

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

release_yvptunpfmzdb7hqqu76dtkbpiu

2 November 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/yvptunpfmzdb7hqqu76dtkbpiu

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11112658%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference