THE APPLICATION OF MOLECULAR GENETIC TECHNIQUES TO THE STUDY OF ACHONDROPLASIA

THE APPLICATION OF MOLECULAR GENETIC TECHNIQUES TO THE STUDY OF ACHONDROPLASIA

Bibliographic Details
Main Authors:	Wordsworth, B, Ogilvie, D, Thompson, E, Sykes, B
Format:	Journal article
Published:	1986

Similar Items

GENETIC-LINKAGE STUDIES OF THE TYPE-II COLLAGEN GENE AND ACHONDROPLASIA
by: Wordsworth, B, et al.
Published: (1986)

GENETIC-LINKAGE STUDIES OF THE TYPE-II COLLAGEN GENE (COL 2AI) AND ACHONDROPLASIA
by: Wordsworth, B, et al.
Published: (1985)

Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia.
by: Ogilvie, D, et al.
Published: (1986)

Segregation analysis of the structural genes of the major fibrillar collagens provides further evidence of molecular heterogeneity in type II Ehlers-Danlos syndrome.
by: Wordsworth, B, et al.
Published: (1991)

Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study—a multi-center retrospective cohort study of achondroplasia in the US
by: Julie E. Hoover-Fong, et al.
Published: (2021-12-01)

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations
by: Valerie Cormier-Daire, et al.
Published: (2022-07-01)

Thoracolumbar kyphosis in achondroplasia: literature review
by: Alla B. Koganova, et al.
Published: (2021-03-01)

TYPE-I COLLAGEN STRUCTURAL GENES IN OSTEOGENESIS IMPERFECTA AND OTHER HERITABLE DISORDERS OF CONNECTIVE-TISSUE
by: Wordsworth, B, et al.
Published: (1987)

Lethal osteogenesis imperfecta and a collagen gene deletion. Length polymorphism provides an alternative explanation.
by: Sykes, B, et al.
Published: (1985)

Genetic segregation analysis of familial mitral valve prolapse shows no linkage to fibrillar collagen genes.
by: Wordsworth, P, et al.
Published: (1989)

Achondroplasia Associated with Bilateral Keratoconus
by: Ammar M. Al Mahmood, et al.
Published: (2012-01-01)

Sagittal balance parameters in achondroplasia
by: H. Cai, et al.
Published: (2023-01-01)

Achondroplasia and its oral manifestations
by: P N Nanmaran, et al.
Published: (2023-01-01)

Epidemiology of achondroplasia: a population-based study in Europe
by: Coi, A, et al.
Published: (2019)

Molecular Confirmation of G1138A Mutation in FGFR gene in Achondroplasia
by: Shyam Bahadur Khanal, et al.
Published: (2018-06-01)

Growth Charts for Egyptian Children with Achondroplasia
by: Samira Ismail, et al.
Published: (2019-05-01)

Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies
by: Ravi Savarirayan, et al.
Published: (2022-03-01)

MULTIPLE EPIPHYSEAL DYSPLASIA AND THE CARTILAGE COLLAGEN GENE
by: Wordsworth, B, et al.
Published: (1986)

DISCORDANT SEGREGATION OF THE MAJOR FIBRILLAR COLLAGEN STRUCTURAL GENES IN TYPE-II EHLERS DANLOS-SYNDROME
by: Wordsworth, B, et al.
Published: (1987)

Joint mobility with particular reference to racial variation and inherited connective tissue disorders.
by: Wordsworth, B, et al.
Published: (1987)

COURSE OF PREGNANCY AND CHILDBIRTH OF A WOMAN WITH ACHONDROPLASIA
by: G. M. PERTCEVA, et al.
Published: (2017-06-01)

The first drug for the treatment of children with achondroplasia
by: article Editorial
Published: (2021-12-01)

Extensive Limb Lengthening for Achondroplasia and Hypochondroplasia
by: Dror Paley
Published: (2021-06-01)

Spinal Stenosis and Thoracolumbar Kyphosis in Achondroplasia
by: LIU Fuze, et al.
Published: (2023-10-01)

Optimal management of complications associated with achondroplasia
by: Irel, et al.
Published: (2014-06-01)

Natural history of 39 patients with Achondroplasia
by: Jose Ricardo Magliocco Ceroni, et al.
Published: (2018-07-01)

Concomitant achondroplasia and developmental dysplasia of the hip
by: Tennison L. Malcolm, MD, et al.
Published: (2015-12-01)

Achondroplasia: a comprehensive clinical review
by: Richard M. Pauli
Published: (2019-01-01)

Optimising care and follow-up of adults with achondroplasia
by: Svein Fredwall, et al.
Published: (2022-08-01)

Otologic Manifestations in Patients with Achondroplasia: A Multicenter Study
by: Dohee Kim, et al.
Published: (2024-11-01)

POLYMORPHIC VARIANTS OF THE HUMAN TYPE-II COLLAGEN GENE
by: Sykes, B, et al.
Published: (1986)

Simultaneous Bilateral Femoral and Tibial Lengthening in Achondroplasia
by: Lior Shabtai, et al.
Published: (2021-08-01)

EXCLUSION OF THE ALPHA-1 (II) COLLAGEN GENE AS THE MUTANT LOCUS IN TYPE-II EHLERS-DANLOS SYNDROME
by: Wordsworth, P, et al.
Published: (1985)

SEGREGATION ANALYSIS OF THE TYPE-II COLLAGEN STRUCTURAL GENE (COL2 AL) IN THE CHONDRODYSPLASIAS
by: Wordsworth, P, et al.
Published: (1987)

Exclusion of the alpha 1(II) collagen structural gene as the mutant locus in type II Ehlers-Danlos syndrome.
by: Wordsworth, P, et al.
Published: (1985)

Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America
by: Juan Llerena, Jr, et al.
Published: (2024-01-01)

Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome
by: Esther Perez-Carbajo, et al.
Published: (2015-01-01)

Diagnosis of Achondroplasia at Birth: A Case Report
by: Suzit Bhusal, et al.
Published: (2020-02-01)

Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly
by: Ekaterina Lyulcheva-Bennett, et al.
Published: (2024-09-01)

Unveiling the Chaos in Postural Control in Adults with Achondroplasia
by: Inês Alves, et al.
Published: (2024-02-01)