Genetics and malformations of the hand

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

Metastatic carcinoma of the hand.

The Hand·1983

Metastatic carcinoma presenting as a pulp space infection.

The Hand·1983

Triphalangeal thumb and five-fingered hand.

The Hand·1983

Free composite tissue transfer in a compound hand injury.

The Hand·1983

The effect of freezing on peripheral nerve repair.

The Hand·1983

Blood supply of the median nerve in the carpal tunnel.

The Hand·1983

MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorder.

Scientific reports·2026

First nationwide full-genome characterisation of human-derived Andes virus in Chile: a retrospective genomic epidemiology study.

The Lancet. Microbe·2026

Integrated hearing and genetic screening for neonatal deafness in a resource-limited region: insights from Qingyuan, China.

Frontiers in genetics·2026

A Novel FN1 Nucleotide Variant c.3051G>C (p.Trp1017Cys) in a Pediatric Patient with Fibronectin Glomerulopathy: Case Report and Literature Review.

Journal of clinical medicine·2026

The Novel HLA-DQA1*01:204 Allele Identified in Asian Female Donor by Next-Generation Sequencing.

HLA·2026

Detailed Clinical Report of Four Individuals from a Nusayri Family with a Rare TNXB Variant: Classical-Like and Hypermobile Types of Ehlers-Danlos Syndrome.

Molecular syndromology·2026

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Genetics and malformations of the hand

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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.

Metastatic carcinoma of the hand.

Metastatic carcinoma presenting as a pulp space infection.

Triphalangeal thumb and five-fingered hand.

Free composite tissue transfer in a compound hand injury.

The effect of freezing on peripheral nerve repair.

Blood supply of the median nerve in the carpal tunnel.

MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorder.

First nationwide full-genome characterisation of human-derived Andes virus in Chile: a retrospective genomic epidemiology study.

Integrated hearing and genetic screening for neonatal deafness in a resource-limited region: insights from Qingyuan, China.

A Novel FN1 Nucleotide Variant c.3051G>C (p.Trp1017Cys) in a Pediatric Patient with Fibronectin Glomerulopathy: Case Report and Literature Review.

The Novel HLA-DQA1*01:204 Allele Identified in Asian Female Donor by Next-Generation Sequencing.

Detailed Clinical Report of Four Individuals from a Nusayri Family with a Rare TNXB Variant: Classical-Like and Hypermobile Types of Ehlers-Danlos Syndrome.

Related Experiment Videos

Genetics and malformations of the hand

Related Concept Videos

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