(Q33682817)

28 July 2017

1 reference

title

Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies: an autosomal recessive disorder (English)

1 reference

28 July 2017

1 reference

1 reference

L B Holmes

1

1 reference

28 July 2017

R W Redline

2

1 reference

28 July 2017

D L Brown

3

1 reference

28 July 2017

A J Williams

4

1 reference

28 July 2017

T Collins

5

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 November 1995

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

32

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28 July 2017

11

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28 July 2017

896-900

1 reference

BILATERAL ABSENCE OF THE RADIUS AND TIBIA WITH BILATERAL REDUPLICATION OF THE ULNA AND FIBULA. A CASE REPORT

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051745

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051745

Expression of AbdB-type homeobox genes in human tumors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051745

Experimental analysis of the control of expression of the homeobox-gene Msx-1 in the developing limb and face.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051745

Evidence for a metameric pattern in the development of the chick humerus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051745

Brief clinical report: unilateral partial tibia defect with preaxial polydactyly, general micromelia, and trigonomacrocephaly with a note on "developmental resistance".

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051745

Orofaciodigital syndrome with mesomelic limb shortening.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051745

Isolated tibial hemimelia in sibs: an autosomal-recessive disorder?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051745

Hypoplastic tibiae with postaxial polysyndactyly: a new dominant 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=1051745

Human HOX4E: a gene strongly expressed in the adult male and female urogenital tracts

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051745

Homeobox genes and congenital malformations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051745

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051745

Mirror hands and feet with a distinct nasal defect, an autosomal dominant condition

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051745

4 cases of bilateral split-hand with bilateral atresia of the tibia in a family

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051745

Bilateral aplasia of the tibia, polydactyly and absent thumb in father and daughter

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051745

Hypoplastic tibiae with postaxial polysyndactyly in two sibs: further conformation of a new syndrome

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051745

Autosomal dominant inheritance of tibial meromelia. Report of a kindred

30 October 2018

1 reference

12 December 2020

Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and considerations about variability and penetrance

1 reference

12 December 2020

Tibial hemimelia-cleft lip/palate in a Brazilian child born to consanguineous parents

1 reference

12 December 2020

undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1

1 reference

12 December 2020

Coordinate expression of the murine Hox-5 complex homoeobox-containing genes during limb pattern formation

1 reference

12 December 2020

Homeobox gene expression correlated with the bifurcation process of limb cartilage development

1 reference

12 December 2020

Regulative ability of the prospective cardiogenic and vasculogenic areas of the primitive streak during avian gastrulation

1 reference

12 December 2020

Tibial hemimelia syndrome: prenatal diagnosis by real-time ultrasound

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.32.11.896

1 reference

28 July 2017

1 reference

28 July 2017

1 reference