Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.

Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.

Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked recessive disorder characterized by short stature due to defective growth of the vertebral bodies. In addition, deformities of the femoral heads result in early onset secondary osteoarthritis of the hips. The disorder affects males only with h...

Bibliografski detalji
Glavni autori:	Christie, P, Curley, A, Nesbit, M, Chapman, C, Genet, S, Harper, P, Keeling, S, Wilkie, A, Winter, R, Thakker, R
Format:	Journal article
Jezik:	English
Izdano:	2001

Slični predmeti

Mutational analysis in X-linked Spondyloepiphyseal Dysplasia Tarda (SEDT).
od: Christie, P, i dr.
Izdano: (2000)

Spondyloepiphyseal Dysplasia Tarda in Twins
od: Ferhat Çekmez, i dr.
Izdano: (2011-08-01)

Characterization of two genes within the candidate region for X-linked spondyloepiphyseal dysplasia tarda.
od: Mumm, S, i dr.
Izdano: (1997)

Characterization of two genes within the candidate region for X-linked spondyloepiphyseal dysplasia tarda.
od: Mumm, S, i dr.
Izdano: (1997)

Spondyloepiphyseal dysplasia tarda with progressive arthropathy
od: Ece Kaptanoğlu, i dr.
Izdano: (2004-10-01)

Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)
od: Lei Kong, i dr.
Izdano: (2018-01-01)

High-throughput sequencing analysis of deletion mutation of TRAPPC2 in an X-linked spondyloepiphyseal dysplasia tarda pedigree
od: LIU Yu, i dr.
Izdano: (2024-03-01)

A 5-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a 6-generation Arkansas kindred.
od: Mumm, S, i dr.
Izdano: (2000)

A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred.
od: Mumm, S, i dr.
Izdano: (2000)

Spondyloepiphyseal Dysplasia Tarda and Osteoporosis: A Case Report - Case Report
od: Şükran Kurtulmuş, i dr.
Izdano: (2006-03-01)

Ayurvedic management of spondyloepiphyseal dysplasia tarda, a rare hereditary disorder
od: Sarvesh Kumar Singh, i dr.
Izdano: (2016-10-01)

Spondyloepiphyseal dysplasia tarda (SEDT)-associated sedlin mutations disrupt interactions with C-MYC promoter-binding protein 1 (MBP-1), pituitary homeobox 1 (PITX1) and stercidogenic factor 1 (SF1)
od: Nesbit, M, i dr.
Izdano: (2007)

Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases
od: Joon Yeon Won, i dr.
Izdano: (2019-05-01)

Multiple disc herniation in spondyloepiphyseal dysplasia tarda: A rare case report and review of the literature
od: Zan Chen, i dr.
Izdano: (2022-12-01)

A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation
od: Esapa, C, i dr.
Izdano: (2012)

A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation.
od: Esapa, C, i dr.
Izdano: (2012)

A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation.
od: Esapa, C, i dr.
Izdano: (2012)

A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family
od: Cai Zhang, i dr.
Izdano: (2020-05-01)

COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita
od: Nenna R, i dr.
Izdano: (2019-12-01)

Functional analysis of a novel nonsense variant c.91A>T of the TRAPPC2 gene in a Chinese family with X-linked recessive autosomal spondyloepiphyseal dysplasia tarda
od: Guiyu Lou, i dr.
Izdano: (2023-08-01)

True Generalized Microdontia and Hypodontia with Spondyloepiphyseal Dysplasia
od: Anita Singhal, i dr.
Izdano: (2013-01-01)

An Uncommon Reason of Osteoporosis: Spondyloepiphyseal Dysplasia Congenita
od: Onur Elbasan, i dr.
Izdano: (2017-12-01)

The diagnosis of art: Achilles Emperaire and spondyloepiphyseal dysplasia congenita.
od: Ramachandran, M, i dr.
Izdano: (2007)

General anaesthesia for parturients with spondyloepiphyseal dysplasia: Risky but possible!
od: Sukanya Mitra, i dr.
Izdano: (2016-01-01)

IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC)
od: Pauline De Kinderen, i dr.
Izdano: (2023-06-01)

A Mouse with a Ser1386Pro Mutation in the C-propeptide Domain of col2aI Provides a Model for Spondyloepiphyseal Dysplasia Congenita
od: Esapa, C, i dr.
Izdano: (2008)

Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita
od: Wen‐bin Zheng, i dr.
Izdano: (2020-03-01)

Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia
od: Ophélie Gourgas, i dr.
Izdano: (2023-11-01)

Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita
od: Moe Akahira-Azuma, i dr.
Izdano: (2022-05-01)

Total Knee Arthroplasty in Spondyloepiphyseal Dysplasia with Irreducible Congenital Dislocation of the Patella: Case Report and Literature Review
od: Sponer P, i dr.
Izdano: (2021-03-01)

X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene.
od: Christie, P, i dr.
Izdano: (2001)

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds
od: Mehran Kausar, i dr.
Izdano: (2022-08-01)

Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to the development of osteoarthritis
od: Tim Rolvien, i dr.
Izdano: (2020-10-01)

Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia
od: Ophélie Gourgas, i dr.
Izdano: (2024-04-01)

MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).
od: Kennedy, A, i dr.
Izdano: (2005)

A Novel Mutation c.3392G>T of COL2A1 Causes Spondyloepiphyseal Dysplasia Congenital by Affecting Pre-mRNA Splicing
od: Lihong Fan, i dr.
Izdano: (2022-04-01)

Combined, novel management of bilateral varus hip deformity using "Eight-plate" in children with spondyloepiphyseal dysplasia congenita
od: Josip Vlaić, i dr.
Izdano: (2023-01-01)

Case Report: Recombinant human growth hormone therapy in a patient with spondyloepiphyseal dysplasia, Kondo-Fu type
od: Congli Chen, i dr.
Izdano: (2023-02-01)

X-linked hypophosphataemic rickets due to pseudo-exons of the PHEX gene.
od: Christie, P, i dr.
Izdano: (2000)

A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome.
od: Gaynor, K, i dr.
Izdano: (2009)