Scoliosis, vertebral anomalies and spinal bifida

Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.

Journal of medical genetics·1996

Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene.

American journal of human genetics·1994

Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias.

Journal of medical genetics·1988

Pseudoachondroplasia: clinical diagnosis at different ages and comparison of autosomal dominant and recessive types. A review of 32 patients (26 kindreds).

Journal of medical genetics·1986

Research for genetic and environmental factors in orthopedic diseases.

Clinical orthopaedics and related research·1986

The tricho-rhino-phalangeal syndrome. A report of 14 cases in 7 kindreds.

The Journal of bone and joint surgery. British volume·1986

Limb anomalies from evolutionary, developmental, and genetic perspectives.

Birth defects original article series·1996

Multisite neural tube closure in humans.

Birth defects original article series·1996

Extracellular vesicles in COVID-19 and long COVID: Structural mediators of viral persistence and immune dysfunction.

Current opinion in structural biology·2026

Development of a Claims-Based Algorithm and Validation Through Medical Chart Review to Identify Patients with Crohn's Disease-Related Fibrostenosis: A Retrospective Observational Study in the United States.

Advances in therapy·2026

Mammalian metaphase kinetochores are elastic and require condensin for robust structure and function.

The Journal of cell biology·2026

Anisotropic electrostatic-elastic softening and stability in charged colloidal crystals.

The Journal of chemical physics·2026

Scale-dependent structural evolution reveals the nanoscale-to-mesoscale mechanism of diameter-dependent strength degradation in carbon fibers.

Nanoscale·2026

Multimodal label-free imaging reveals increased nuclear hydration and apparent stiffening during cellular senescence.

Chemical communications (Cambridge, England)·2026

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Scoliosis, vertebral anomalies and spinal bifida

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Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.

Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene.

Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias.

Pseudoachondroplasia: clinical diagnosis at different ages and comparison of autosomal dominant and recessive types. A review of 32 patients (26 kindreds).

Research for genetic and environmental factors in orthopedic diseases.

The tricho-rhino-phalangeal syndrome. A report of 14 cases in 7 kindreds.

Limb anomalies from evolutionary, developmental, and genetic perspectives.

Multisite neural tube closure in humans.

Extracellular vesicles in COVID-19 and long COVID: Structural mediators of viral persistence and immune dysfunction.

Development of a Claims-Based Algorithm and Validation Through Medical Chart Review to Identify Patients with Crohn's Disease-Related Fibrostenosis: A Retrospective Observational Study in the United States.

Mammalian metaphase kinetochores are elastic and require condensin for robust structure and function.

Anisotropic electrostatic-elastic softening and stability in charged colloidal crystals.

Scale-dependent structural evolution reveals the nanoscale-to-mesoscale mechanism of diameter-dependent strength degradation in carbon fibers.

Multimodal label-free imaging reveals increased nuclear hydration and apparent stiffening during cellular senescence.

Related Experiment Videos

Scoliosis, vertebral anomalies and spinal bifida

Related Concept Videos

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