(Q42042781)

15 October 2017

Health-related quality of life measures in genetic disorders: an outcome variable for consideration in clinical trials (English)

1 reference

15 October 2017

1 reference

David A Stevenson

1

1 reference

PMC publication ID

2745208

15 October 2017

John C Carey

series ordinal

2

1 reference

15 October 2017

1 August 2009

1 reference

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

15 October 2017

1 reference

15 October 2017

151C

1 reference

15 October 2017

3

1 reference

15 October 2017

255-260

1 reference

Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: a randomized controlled trial

15 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

Patient-focused measures of functional health status and health-related quality of life in pediatric orthopedics: a case study in measurement selection

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

Osteogenic protein-1 (bone morphogenetic protein-7) in the treatment of tibial nonunions

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

A review of measures of quality of life for children with chronic illness

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

Free vascular fibular transfer in congenital pseudoarthrosis of the tibia: results of the EPOS multicenter study. European Paediatric Orthopaedic Society (EPOS).

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

Learning from discordance in patient and physician global assessments of systemic lupus erythematosus disease activity.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

Assessing health-related quality-of-life in individuals with haemophilia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

Congenital pseudarthrosis of the tibia: a retrospective review

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

Neurofibromatosis in children: the role of the orthopaedist.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

Congenital pseudarthrosis of the tibia. A long-term follow-up study.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

Distal metaphyseal tibial nonunion. Deformity and bone loss treated by open reduction, internal fixation, and human bone morphogenetic protein (hBMP).

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

Own clinical experience with functional bracing for treatment of pseudarthrosis and delayed union of the tibia.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

Parental reports of health-related quality of life in young children with neurofibromatosis type 1: influence of condition specific determinants.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

The self-concept of children and adolescents with neurofibromatosis type 1.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

Quality of life and psychological adjustment in children and adolescents with neurofibromatosis type 1.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

Use of an intramedullary rod for treatment of congenital pseudarthrosis of the tibia. A long-term follow-up study.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

Quality-of-life impairment in neurofibromatosis type 1: a cross-sectional study of 128 cases.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

Capturing quality of life in pediatric orthopaedics: two recent measures compared.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

Linking clinical variables with health-related quality of life. A conceptual model of patient outcomes.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2745208

Use of an intramedullary rod for the treatment of congenital pseudarthrosis of the tibia

17 August 2018

1 reference

12 December 2020

Bone-marrow transplantation in Hurler's syndrome. Effect on skeletal development

1 reference

12 December 2020

Congenital pseudarthrosis of the tibia. Long-term followup of 29 cases treated by microvascular bone transfer

1 reference

12 December 2020

The POSNA pediatric musculoskeletal functional health questionnaire: report on reliability, validity, and sensitivity to change. Pediatric Outcomes Instrument Development Group. Pediatric Orthopaedic Society of North America

1 reference

12 December 2020

Treatment of congenital pseudarthrosis of the tibia: a multicenter study in Japan

1 reference

12 December 2020

Long-term outcomes of adaptive functions for children with mucopolysaccharidosis I (Hurler syndrome) treated with hematopoietic stem cell transplantation

1 reference

12 December 2020

Impact of neurofibromatosis 1 on Quality of Life: a cross-sectional study of 176 American cases

1 reference

12 December 2020

Discordance between physician's and parent's global assessments in juvenile idiopathic arthritis

1 reference

12 December 2020

Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age

1 reference

12 December 2020

Treatment approaches for congenital pseudarthrosis of tibia: results of the EPOS multicenter study. European Paediatric Orthopaedic Society (EPOS)

1 reference

12 December 2020

Functional results at the end of skeletal growth in 30 patients affected by congenital pseudoarthrosis of the tibia

1 reference

12 December 2020

Surgical and electrical methods in the treatment of congenital and posttraumatic pseudarthrosis of the tibia

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.C.30217

1 reference

15 October 2017

1 reference

PMC publication ID

2745208

15 October 2017

PubMed publication ID

19621444

1 reference

PMC publication ID

2745208