(Q34658446)

3 August 2017

0 references

Double inactivation of NF1 in tibial pseudarthrosis (English)

1 reference

3 August 2017

David A Stevenson

1

1 reference

3 August 2017

Holly Zhou

2

1 reference

3 August 2017

Shadi Ashrafi

3

1 reference

3 August 2017

Ludwine M Messiaen

4

1 reference

3 August 2017

John C Carey

5

1 reference

3 August 2017

Jacques L D'Astous

6

1 reference

3 August 2017

Stephen D Santora

7

1 reference

3 August 2017

David H Viskochil

8

1 reference

3 August 2017

language of work or name

English

0 references

publication date

10 May 2006

1 reference

American Journal of Human Genetics

3 August 2017

published in

1 reference

3 August 2017

volume

79

1 reference

3 August 2017

issue

1

1 reference

3 August 2017

page(s)

143-148

1 reference

Congenital pseudarthrosis of the tibia: history, etiology, classification, and epidemiologic data

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474128

Neurofibromatosis in children: the role of the orthopaedist.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474128

Loss of heterozygosity analysis using whole genome amplification, cell sorting, and fluorescence-based PCR.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474128

Von Recklinghausen neurofibromatosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474128

An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474128

Congenital pseudarthrosis of the tibia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474128

NF1 tumor suppressor protein and mRNA in skeletal tissues of developing and adult normal mouse and NF1-deficient embryos

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474128

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474128

Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474128

Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions

26 October 2018

1 reference

12 December 2020

NF1 gene expression in mouse fracture healing and in experimental rat pseudarthrosis

1 reference

12 December 2020

Chromosome 17 loss-of-heterozygosity studies in benign and malignant tumors in neurofibromatosis type 1

1 reference

12 December 2020

Ultrastructure of congenital pseudarthrosis of the tibia

1 reference

12 December 2020

Pathology and natural history of congenital pseudarthrosis of the tibia

1 reference

12 December 2020

Light- and electron-microscopic studies in congenital pseudarthrosis

1 reference

12 December 2020

A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene

1 reference

12 December 2020

Identification of NF1 mutations in both alleles of a dermal neurofibroma

1 reference

12 December 2020

Neurofibromin and its inactivation of Ras are prerequisites for osteoblast functioning

1 reference

12 December 2020

Pathology of bone lesions associated with congenital pseudarthrosis of the leg

1 reference

12 December 2020

Identifiers

DOI

10.1086/504441

1 reference

3 August 2017

1 reference

3 August 2017

1 reference