(Q41530960)

2 October 2017

1 reference

title

Osteogenesis imperfecta and other heritable disorders of bone (English)

1 reference

2 October 2017

main subject

osteogenesis imperfecta

0 references

author name string

Paterson CR

series ordinal

1

1 reference

2 October 2017

publication date

1 April 1997

1 reference

Bailliere's clinical endocrinology and metabolism

2 October 2017

published in

1 reference

2 October 2017

volume

11

1 reference

2 October 2017

issue

1

1 reference

2 October 2017

page(s)

195-213

1 reference

Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene

2 October 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Evolution of pseudohypoparathyroidism: an informative family study

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Variable prenatal appearance of osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Communicating hydrocephalus, basilar invagination, and other neurologic features in osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Computer assisted analysis of hand radiographs in infantile hypophosphatasia carriers

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Management of femoral fractures and pseudofractures in adult hypophosphatasia

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: a newly recognized type of osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Early surgical management of severe forms of osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Substitutions of aspartic acid for glycine-220 and of arginine for glycine-664 in the triple helix of the pro alpha 1(I) chain of type I procollagen produce lethal osteogenesis imperfecta and disrupt the ability of collagen fibrils to incorporate cr

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Osteoporosis-pseudoglioma syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Fractures in early childhood: osteogenesis imperfecta or child abuse?

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Bone density measurement in osteogenesis imperfecta may well be important.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Benign osteopetrosis: a review of 42 cases showing two different patterns

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Intramedullary rodding in type III osteogenesis imperfecta. Effects on neuromotor development in 10 children

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Haemostatic studies in osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Recent developments in the understanding of the pathophysiology of osteopetrosis

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Plasma intact parathyroid hormone (PTH) and PTH-related peptide in familial benign hypercalcemia: greater responsiveness to endogenous PTH than in primary hyperparathyroidism

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Clinical and genetic aspects in autosomal dominant inherited osteogenesis imperfecta type I.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Infantile hypophosphatasia: successful prenatal assessment by testing for tissue-non-specific alkaline phosphatase isoenzyme gene mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Jansen's metaphyseal chondrodysplasia: a disorder due to a PTH/PTHrP receptor gene mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Long-term treatment of osteopetrosis with recombinant human interferon gamma

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Collagens and their abnormalities in a wide spectrum of diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Gastrointestinal problems in patients who have type-III osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Causes of death in osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Significant developmental elevation in serum parathyroid hormone levels in a large kindred with familial benign (hypocalciuric) hypercalcemia

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

The growth hormone and somatomedin axis in short children with osteogenesis imperfecta.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Transient infantile osteopetrosis

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Mutations in collagen genes resulting in metaphyseal and epiphyseal dysplasias

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Hip and knee replacement in osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Bone density in osteogenesis imperfecta may well be normal

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Osteogenesis imperfecta after the menopause

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Osteogenesis imperfecta: fractures of the femur when testing for congenital dislocation of the hip

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Osteogenesis imperfecta: the distinction from child abuse and the recognition of a variant form

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Life expectancy in osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Disorders of calcium ion sensing

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Three inherited disorders of calcium sensing

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

The heterogeneity of the osteopetroses reflects the diversity of cellular influences during skeletal development

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Osteogenesis imperfecta and malignant hyperthermia. Is there a relationship?

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Prenatal diagnosis of collagen disorders by direct biochemical analysis of chorionic villus biopsies

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Osteogenesis imperfecta: clinical symptoms and update findings in computed tomography and tympano-cochlear scintigraphy.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Endocrine and molecular biological studies in a German family with Albright hereditary osteodystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Craniocervical abnormalities in osteogenesis imperfecta: genetic and molecular correlation

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Osteopenia in 37 members of seven families: analysis based on a model of dominant inheritance.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Linkage analysis in dominantly inherited osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Non-invasive prenatal diagnosis of osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Osteogenesis imperfecta: A clinical study of the first ten years of life

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Self limiting neonatal primary hyperparathyroidism associated with familial hypocalciuric hypercalcaemia

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

Osteogenesis imperfecta and cardiovascular diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2897%2980601-5

7 January 2021

10.1016/S0950-351X(97)80601-5

Identifiers

DOI

1 reference

2 October 2017

1 reference