(Q27025005)

D.O. Sillence

series ordinal

2

1 reference

language of work or name

1 reference

June 2014

1 reference

American Journal of Medical Genetics Part A

1 June 2014

4 references

13 March 2019

22 April 2019

17 June 2019

29 October 2020

1 reference

American Journal of Medical Genetics

4 references

13 March 2019

22 April 2019

17 June 2019

29 October 2020

164A

1 reference

issue

6

1 reference

page(s)

1470-81

1 reference

Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International

copyright license

4 references

13 March 2019

22 April 2019

17 June 2019

on focus list of Wikimedia project

29 October 2020

ScienceSource

0 references

cites work

PLS3 mutations in X-linked osteoporosis with fractures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Mutations in WNT1 cause different forms of bone fragility

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Genetic heterogeneity in osteogenesis imperfecta

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Characterization of the osteoblast-specific transmembrane protein IFITM5 and analysis of IFITM5-deficient mice

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Intravenous pamidronate treatment in children with moderate-to-severe osteogenesis imperfecta started under three years of age.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Recessively inherited forms of osteogenesis imperfecta

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Osteogenesis Imperfecta: A Review with Clinical Examples.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Bone geometry, density, and microarchitecture in the distal radius and tibia in adults with osteogenesis imperfecta type I assessed by high-resolution pQCT.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

New perspectives on osteogenesis imperfecta

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Classification of Osteogenesis Imperfecta revisited

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Intravenous pamidronate treatment of infants with severe osteogenesis imperfecta

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Intravenous pamidronate treatment of children under 36 months of age with osteogenesis imperfecta

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

28 September 2017

Osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

The volumetric bone density and cortical thickness in adult patients affected by osteogenesis imperfecta.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Aspects of the history of osteogenesis imperfecta (Vrolik's syndrome).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Type V osteogenesis imperfecta: a new form of brittle bone disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Cyclic administration of pamidronate in children with severe osteogenesis imperfecta

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

The Human Collagen Mutation Database 1998.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

The human type I collagen mutation database

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Craniocervical abnormalities in osteogenesis imperfecta: genetic and molecular correlation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

A Remarkable Case of Diffuse Cancellous Osteoma of the Femur, following a Fracture, in which similar growths afterwards developed in connection with other bones.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Heterogeneity of osteogenesis imperfecta type I.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

A new look at osteogenesis imperfecta. A clinical, radiological and biochemical study of forty-two patients

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Electron microscopy findings on the cornea and sclera in osteogenesis imperfecta

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta.

31 May 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36545

Abnormalities in central nervous system development in osteogenesis imperfecta type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36545

Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36545

Hearing loss in Finnish adults with osteogenesis imperfecta: a nationwide survey.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36545

Effects of intravenous pamidronate treatment in infants with osteogenesis imperfecta: clinical and histomorphometric outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36545

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36545

Natural history of blue sclerae in osteogenesis imperfecta.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36545

Nosology and classification of genetic skeletal disorders: 2010 revision.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36545

Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36545

A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

The classic: congenital osteomalacia. Olaus Jacob Ekman.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4314691

Cardiovascular abnormalities in adults with osteogenesis imperfecta

28 November 2018

1 reference

12 December 2020

Fragilitas ossium hereditaria tarda: Ekman-Lobstein disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity

1 reference

12 December 2020

Bone mineral density of total body, spine, and femoral neck in children and young adults: a cross-sectional and longitudinal study

1 reference

12 December 2020

Osteogenesis imperfecta: a pasture for splitters and lumpers

1 reference

12 December 2020

[Osteogenesis imperfecta; a survey with some results from an introductory study of the incidence of the disease in Sweden]

1 reference

12 December 2020

Mutations in WNT1 are a cause of osteogenesis imperfecta

1 reference

12 December 2020

Vestibular dysfunction in adult patients with osteogenesis imperfecta

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.36545

1 reference

1 reference

1 reference

PubMed publication ID

24715559

1 reference