(Q35969033)

11 August 2017

A large duplication involving the IHH locus mimics acrocallosal syndrome (English)

1 reference

11 August 2017

8

Gudrun Nürnberg

0 references

Hulya Kayserili

13

object named as

Hülya Kayserili

0 references

Peter Nürnberg

12

object named as

Peter Nürnberg

1 reference

11 August 2017

14

Bernd Wollnik

1 reference

11 August 2017

1

Memnune Yuksel-Apak

1 reference

11 August 2017

5

Selcuk Apak

1 reference

11 August 2017

Nina Bögershausen

2

1 reference

11 August 2017

Barbara Pawlik

3

1 reference

11 August 2017

Yun Li

4

1 reference

11 August 2017

Oya Uyguner

6

1 reference

11 August 2017

Esther Milz

7

1 reference

11 August 2017

Birsen Karaman

9

1 reference

11 August 2017

Ayan Gülgören

10

1 reference

11 August 2017

Karl-Heinz Grzeschik

11

1 reference

11 August 2017

language of work or name

1 reference

11 January 2012

1 reference

European Journal of Human Genetics

11 August 2017

1 reference

11 August 2017

20

1 reference

11 August 2017

6

1 reference

11 August 2017

639-644

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2011.250

11 August 2017

0 references

cites work

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355252

Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355252

Vertebrate limb bud development: moving towards integrative analysis of organogenesis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355252

Evolutionary toggling of the MAPT 17q21.31 inversion region

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355252

Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355252

Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355252

Tissue expression patterns identify mouse cilia genes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355252

IHH and FGF8 coregulate elongation of digit primordia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355252

A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355252

Truncation of NHEJ1 in a patient with polymicrogyria

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355252

Ihh signaling is directly required for the osteoblast lineage in the endochondral skeleton

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355252

Shh and Gli3 are dispensable for limb skeleton formation but regulate digit number and identity

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355252

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355252

Indian hedgehog coordinates endochondral bone growth and morphogenesis via parathyroid hormone related-protein-dependent and -independent pathways

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355252

Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355252

The Greig cephalopolysyndactyly syndrome: report of a family and review of the literature

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355252

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3355252

A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb

27 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.250

Nematode chondroitin polymerizing factor showing cell-/organ-specific expression is indispensable for chondroitin synthesis and embryonic cell division.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.250

Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.250

Serial deletions and duplications suggest a mechanism for the collinearity of Hoxd genes in limbs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.250

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.250

Point mutations in human GLI3 cause Greig syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.250

Hedgehog signalling: Kif7 is not that fishy after all.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.250

Ihh controls cartilage development by antagonizing Gli3, but requires additional effectors to regulate osteoblast and vascular development

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22234151

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/22234151

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2011.250

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

22234151

1 reference