(Q52109110)

22 April 2018

title

Why study human limb malformations? (English)

1 reference

22 April 2018

Andrew Oliver Mungo Wilkie

author

series ordinal

1

1 reference

22 April 2018

publication date

1 January 2003

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22 April 2018

number of pages

9

1 reference

inferred from page(s)

published in

Journal of Anatomy

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22 April 2018

volume

202

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22 April 2018

issue

1

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22 April 2018

page(s)

27-35

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22 April 2018

Okihiro syndrome is caused by SALL4 mutations

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Teratogen-induced limb defects

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

FGFs, their receptors, and human limb malformations: clinical and molecular correlations

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

The p63 gene in EEC and other syndromes

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

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

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

The emerging genetic and molecular basis of Fanconi anaemia

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

A novel acropectoral syndrome maps to chromosome 7q36

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Identification of the gene for oral-facial-digital type I syndrome

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

The molecular control of upper extremity development: implications for congenital hand anomalies

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Genetics of limb anomalies in humans

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Molecular control of vertebrate limb development, evolution and congenital malformations

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Limb development: molecular dysmorphology is at hand!

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Mutations in mouse Aristaless-like4 cause Strong's luxoid polydactyly.

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome.

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

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

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Fossils, genes and the evolution of animal limbs

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Genotype-phenotype correlation for nucleotide substitutions in the IgII- IgIII linker of FGFR2

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Exclusive paternal origin of new mutations in Apert syndrome

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q.

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Non-Mendelian transmission in a human developmental disorder: split hand/split foot

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10.

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

twist is required in head mesenchyme for cranial neural tube morphogenesis

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

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

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

A complex bilateral polysyndactyly disease locus maps to chromosome 7q36

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1571054

The rise and fall of positional cloning?

30 November 2018

1 reference

12 December 2020

Limb reduction defects in fetuses with homozygous alpha-thalassaemia-1

1 reference

12 December 2020

Greig cephalopolysyndactyly syndrome: a possible mouse homologue (Xt-extra toes)

1 reference

12 December 2020

Analysis of limb reduction defects in babies exposed to chorionic villus sampling

1 reference

12 December 2020

10.1046/J.1469-7580.2003.00130.X

Identifiers

DOI

1 reference

22 April 2018

release_kslcsb7qrje3nl7ch6gpg4zfz4

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/kslcsb7qrje3nl7ch6gpg4zfz4

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1571054

0 references

1 reference

22 April 2018