(Q51958818)

18 April 2018

title

Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4. (English)

1 reference

18 April 2018

author name string

Hall CR

1

1 reference

18 April 2018

Wu Y

2

1 reference

18 April 2018

Shaffer LG

3

1 reference

18 April 2018

Hecht JT

4

1 reference

18 April 2018

publication date

1 November 2001

1 reference

18 April 2018

published in

Clinical Genetics

1 reference

18 April 2018

volume

60

1 reference

18 April 2018

issue

5

1 reference

18 April 2018

page(s)

356-359

1 reference

18 April 2018

cites work

Burning down DEFECT11

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600506.X

Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600506.X

Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600506.X

Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600506.X

The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500)

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600506.X

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600506.X

The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600506.X

The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600506.X

Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600506.X

DEFECT 11 syndrome associated with agenesis of the corpus callosum

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600506.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600506.X

Expression of the heparan sulfate proteoglycan, perlecan, during mouse embryogenesis and perlecan chondrogenic activity in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600506.X

New perspectives on the molecular basis of hereditary bone tumours.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600506.X

Alx-4: cDNA cloning and characterization of a novel paired-type homeodomain protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600506.X

Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600506.X

Human haploinsufficiency — one for sorrow, two for joy

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600506.X

Molecular and clinical examination of an Italian DEFECT 11 family

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600506.X

Gene for multiple exostoses (EXT2) maps to 11(p11.2p12) and is deleted in patients with a contiguous gene syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600506.X

inferred from DOI database lookup

7 January 2021

based on heuristic

Bone growth in diaphysial aclasis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600506.X

inferred from DOI database lookup

7 January 2021

based on heuristic

Positionally-dependent chondrogenesis induced by BMP4 is co-regulated by Sox9 and Msx2

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600506.X

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1034/J.1399-0004.2001.600506.X

1 reference

18 April 2018

1 reference

18 April 2018