Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia.

No abstract is available for this paper.

• Publication year

  2000

• Venue

  American journal of medical genetics

• Publication date

  2000-12-18

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/1096-8628(20001218)95:5<482::AID-AJMG14>3.0.CO;2-XPMID 11146471
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Craniotubular bone disorders

  2005cited by this paper
• [Craniodiaphyseal dysplasia].

  2001cited by this paper
• Mutations in the human Delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis

  2000cited by this paper
• Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

  2000cited by this paper
• Clinical spectrum of fibroblast growth factor receptor mutations

  1999cited by this paper
• A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.

  1999influential reference
• The genetic transformation of bone biology.

  1999cited by this paper
• Temporal aspects in craniometaphyseal dysplasia: autosomal recessive type.

  1998cited by this paper
• Craniometaphyseal dysplasia in six generations of a German kindred.

  1998cited by this paper
• The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene.

  1997cited by this paper
• Identical mutations and phenotypic variation

  1997cited by this paper
• Bone dysplasias in man: molecular insights.

  1996cited by this paper
• Intracranial and extracranial reduction osteoplasty for craniodiaphyseal dysplasia.

  1996cited by this paper
• A comprehensive genetic map of the human genome based on 5,264 microsatellites

  1996cited by this paper
• Craniometaphyseal dysplasia (CMD), autosomal dominant form.

  1995influential reference
• Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.

  1994cited by this paper
• A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

  1993cited by this paper
• Bone marrow-derived osteoclast-like cells from a patient with craniometaphyseal dysplasia lack expression of osteoclast-reactive vacuolar proton pump.

  1993cited by this paper
• Spondylocostal dysplasia.

  1992cited by this paper
• Identical twins with an autosomal recessive form of spondylocostal dysostosis

  1992cited by this paper
• The synthesis of type X collagen by bovine and human growth-plate chondrocytes.

  1991cited by this paper
• Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis.

  1991influential reference
• Craniodiaphyseal dysplasia.

  1990cited by this paper
• Spondylocostal dysostosis: dominant type.

  1990cited by this paper
• Isolation of bovine type X collagen and immunolocalization in growth-plate cartilage.

  1990cited by this paper
• Oculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum?

  1990cited by this paper
• Spondylocostal dysostosis: an example of autosomal dominant transmission in a large family

  1989cited by this paper
• A simple salting out procedure for extracting DNA from human nucleated cells.

  1988cited by this paper
• Craniometaphyseal dysplasia with increased bone turnover and secondary hyperparathyroidism: therapeutic effect of calcitonin.

  1988cited by this paper
• Treatment of craniometaphyseal dysplasia with calcitriol.

  1988cited by this paper
• Congenital spinal deformity in a three generation family.

  1988influential reference
• Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling.

  1986cited by this paper
• Immunohistochemical localization of short chain cartilage collagen (type X) in avian tissues

  1985cited by this paper
• Strategies for multilocus linkage analysis in humans.

  1984influential reference
• Autosomal dominant craniometaphyseal dysphasia. Clinical variability

  1983cited by this paper
• Spondylocostal dysostosis in South African sisters

  1981cited by this paper
• Autosomal recessive craniometaphyseal dysplasia.

  1980influential reference
• Craniometaphyseal dysplasia ‐variability of expression within a large family

  1979cited by this paper
• Evidence for autosomal recessive inheritance of costovertebral dysplasia

  1971cited by this paper
• Familial metaphyseal dysplasia?

  1970cited by this paper
• Familial metaphyseal dysplasia.

  1970cited by this paper
• Craniofacial surgery in craniometaphyseal dysplasia.

  1968cited by this paper
• Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism.

  1968cited by this paper
• Familial Metaphyseal Dysplasia

  1967cited by this paper
• Mutations within the gene encoding the ocl (X) chain of type X collagen (COLlOAl) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia

  year unknowncited by this paper

• Skeletal abnormalities caused by a Connexin43R239Q mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia

  2025cites this paper
• ENPP1 enzyme replacement therapy improves ectopic calcification but does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia

  2024cites this paper
• Skeletal abnormalities caused by a Connexin43R239Q mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia

  2024cites this paper
• Foramen Magnum Decompression for Chiari Malformation Type Ⅰ Complicated by Craniometaphyseal Dysplasia : A Case Report and Literature Review

  2021cites this paper
• Craniometaphyseal dysplasia

  2020cites this paper
• Sclerosing bone dysplasias.

  2018cites this paper
• An atypical case of craniometaphyseal dysplasia . Case report and surgical treatment Case report

  2017cites this paper
• An atypical case of craniometaphyseal dysplasia. Case report and surgical treatment.

  2017cites this paper
• Craniometaphyseal dysplasia: the need for a natural history of disease study

  2016cites this paper
• Craniometaphyseal dysplasia with obvious biochemical abnormality and rickets-like features.

  2016cites this paper
• Sclerosing bone dysplasias with involvement of the craniofacial skeleton.

  2014cites this paper
• A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia

  2013influential citation
• Disorders of Bone Density, Volume, and Mineralization

  2013cites this paper
• Chiari type I malformation caused by craniometaphyseal dysplasia.

  2013cites this paper
• Skeletal dysplasias with increased bone density: evolution of molecular pathogenesis in the last century.

  2013cites this paper
• Von der Diagnostik zur intraoperativen Navigation

  2012cites this paper
• A Genome‐Wide Linkage Scan for Quantitative Trait Loci Influencing the Craniofacial Complex in Humans (Homo sapiens sapiens)

  2011cites this paper
• Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21‐22.1 locus

  2011cites this paper
• Enabling an unimpeded surgical approach to the skull base in patients with cranial hyperostosis, exemplarily demonstrated for craniometaphyseal dysplasia.

  2011cites this paper
• Vgll2a is required for neural crest cell survival during zebrafish craniofacial development.

  2010cites this paper
• Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss

  2010cites this paper
• The Erlenmeyer flask bone deformity in the skeletal dysplasias

  2009cites this paper
• Craniometaphyseal dysplasia: a case report.

  2009cites this paper
• Chiari Malformation Caused by Craniometaphyseal Dysplasia: Case Report and Review of Literature

  2008cites this paper
• Cochlear developmental defect and background-dependent hearing thresholds in the Jackson circler (jc) mutant mouse.

  2006cites this paper
• Genetic studies of chondrocalcinosis

  2005cites this paper
• Diseases of Excess Bone Formation

  2004cites this paper
• Zur Klinik und Genetik von Skelettdysplasien mit Modellierungsstörungen, Hyperostose und Sklerose

  2004cites this paper
• Deafness associated with bilateral facial diplegia, ptosis and hypermobile joints—A new autosomal recessive condition?

  2003cites this paper
• Recent progress in the molecular genetics of sclerosing bone dysplasias

  2003cites this paper
• Craniometaphyseal dysplasia: a case report and review of medical and surgical management.

  2003cites this paper
• Craniometaphyseal dysplasia: a case report and review of medical and surgical management.

  2003cites this paper
• Case report: a prenatal case of Jarcho–Levin syndrome diagnosed during the first trimester of pregnancy

  2003cites this paper
• Notch signaling and inherited disease syndromes.

  2003cites this paper
• Chromosome 6.

  2002cites this paper
• The gene for high bone mass

  2002cites this paper
• Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia

  2001cites this paper
• Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.

  2001cites this paper
• Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.

  2001cites this paper