Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development (Q36686762)

15 August 2017

Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development (English)

1 reference

15 August 2017

David M Alvarado

1 reference

15 August 2017

Jillian G Buchan

1 reference

15 August 2017

Steven L Frick

1 reference

15 August 2017

John E Herzenberg

1 reference

15 August 2017

Matthew B Dobbs

1 reference

15 August 2017

Christina A Gurnett

1 reference

15 August 2017

15 August 2012

1 reference

European Journal of Human Genetics

15 August 2017

1 reference

15 August 2017

1 reference

15 August 2017

1 reference

15 August 2017

373-380

1 reference

Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

The phenotype of recurrent 10q22q23 deletions and duplications

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Phenotypic manifestations of copy number variation in chromosome 16p13.11.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Characterising and predicting haploinsufficiency in the human genome.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Genomic Copy Number Variation in Disorders of Cognitive Development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Analysis of Ripply1/2-deficient mouse embryos reveals a mechanism underlying the rostro-caudal patterning within a somite

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Lsh mediated RNA polymerase II stalling at HoxC6 and HoxC8 involves DNA methylation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Tbx4 and tbx5 acting in connective tissue are required for limb muscle and tendon patterning

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Structural variation in the human genome and its role in disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Dominance and gene dosage balance in health and disease: why levels matter!

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Copy number variations of chromosome 16p13.1 region associated with schizophrenia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Axial and appendicular skeletal transformations, ligament alterations, and motor neuron loss in Hoxc10 mutants

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Segmental duplications mediate novel, clinically relevant chromosome rearrangements

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Polygenic threshold model with sex dimorphism in clubfoot inheritance: the Carter effect

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Copy-number variations associated with neuropsychiatric conditions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Identification of human haploinsufficient genes and their genomic proximity to segmental duplications

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Activator-to-repressor conversion of T-box transcription factors by the Ripply family of Groucho/TLE-associated mediators

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Is the prevalence of Klinefelter syndrome increasing?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

A histone H3 lysine 27 demethylase regulates animal posterior development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Ripply2 is essential for precise somite formation during mouse early development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Genomewide linkage analyses of bipolar disorder: a new sample of 250 pedigrees from the National Institute of Mental Health Genetics Initiative.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Genetics of club foot in Maori and Pacific people

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

The T-box genes Tbx4 and Tbx5 regulate limb outgrowth and identity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Hindlimb patterning and mandible development require the Ptx1 gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Role of the Bicoid-related homeodomain factor Pitx1 in specifying hindlimb morphogenesis and pituitary development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

A chromosomal deletion map of human malformations.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Hoxc13 mutant mice lack external hair

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Mutation of HOXA13 in hand-foot-genital syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Analysis of Hox gene expression in the chick limb bud.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

A single-gene explanation for the probability of having idiopathic talipes equinovarus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Disruption of the Hoxd-13 gene induces localized heterochrony leading to mice with neotenic limbs

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Axial homeosis and appendicular skeleton defects in mice with a targeted disruption of hoxd-11

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Axial skeleton homeosis and forelimb malformations in Hoxd-11 mutant mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Hox genes and the evolution of vertebrate axial morphology.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Absence of radius and ulna in mice lacking hoxa-11 andhoxd-11

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Targeted misexpression of Hox-4.6 in the avian limb bud causes apparent homeotic transformations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

The muscles in club foot--a histological histochemical and electron microscopic study

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Role of Pitx1 upstream of Tbx4 in specification of hindlimb identity.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Segregation analysis of idiopathic talipes equinovarus in a Texan population

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

The significance of prenatally identified isolated clubfoot: is amniocentesis indicated?

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Murine developmental control genes

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Impact of congenital talipes equinovarus etiology on treatment outcomes.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Dual hindlimb control elements in the Tbx4 gene and region-specific control of bone size in vertebrate limbs

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Tbx4 is not required for hindlimb identity or post-bud hindlimb outgrowth.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Genome-wide scan and conditional analysis in bipolar disorder: evidence for genomic interaction in the National Institute of Mental Health genetics initiative bipolar pedigrees.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Type I diabetes mellitus in a patient with chromosome 22q11.2 deletion syndrome.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Tbx5 and Tbx4 genes determine the wing/leg identity of limb buds.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3598331

Apoptotic Gene Analysis in Idiopathic Talipes Equinovarus (Clubfoot)

5 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2012.177

Skeletal anomalies and deformities in patients with deletions of 22q11

21 January 2018

1 reference

12 December 2020

Unbalanced 3;22 translocation with 22q11 and 3p deletion syndrome

1 reference

12 December 2020

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes

1 reference

12 December 2020

Isolated clubfoot diagnosed prenatally: is karyotyping indicated?

1 reference

12 December 2020

Genetic and Environmental Factors in the Etiology of Talipes Equinovarus

1 reference

12 December 2020

Congenital clubfoot: an electromyographic study

1 reference

12 December 2020

Genetic epidemiology study of idiopathic talipes equinovarus

1 reference

12 December 2020

FAMILY STUDIES AND THE CAUSE OF CONGENITAL CLUB FOOT. TALIPES EQUINOVARUS, TALIPES CALCANEO-VALGUS AND METATARSUS VARUS

1 reference

12 December 2020

Histologic and histochemical analysis of muscle specimens in idiopathic talipes equinovarus

1 reference

12 December 2020

Muscle imbalance in the aetiology of idiopathic club foot. An electromyographic study

1 reference

12 December 2020

Hox genes and growth: early and late roles in limb bud morphogenesis

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2012.177

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

22892537

1 reference