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...

Deskribapen osoa

Xehetasun bibliografikoak
Egile Nagusiak:	Christie, P, Curley, A, Nesbit, M, Chapman, C, Genet, S, Harper, P, Keeling, S, Wilkie, A, Winter, R, Thakker, R
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	2001

Antzeko izenburuak

Mutational analysis in X-linked Spondyloepiphyseal Dysplasia Tarda (SEDT).
nork: Christie, P, et al.
Argitaratua: (2000)

Spondyloepiphyseal Dysplasia Tarda in Twins
nork: Ferhat Çekmez, et al.
Argitaratua: (2011-08-01)

Characterization of two genes within the candidate region for X-linked spondyloepiphyseal dysplasia tarda.
nork: Mumm, S, et al.
Argitaratua: (1997)

Characterization of two genes within the candidate region for X-linked spondyloepiphyseal dysplasia tarda.
nork: Mumm, S, et al.
Argitaratua: (1997)

Spondyloepiphyseal dysplasia tarda with progressive arthropathy
nork: Ece Kaptanoğlu, et al.
Argitaratua: (2004-10-01)

Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)
nork: Lei Kong, et al.
Argitaratua: (2018-01-01)

High-throughput sequencing analysis of deletion mutation of TRAPPC2 in an X-linked spondyloepiphyseal dysplasia tarda pedigree
nork: LIU Yu, et al.
Argitaratua: (2024-03-01)

A 5-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a 6-generation Arkansas kindred.
nork: Mumm, S, et al.
Argitaratua: (2000)

A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred.
nork: Mumm, S, et al.
Argitaratua: (2000)

Spondyloepiphyseal Dysplasia Tarda and Osteoporosis: A Case Report - Case Report
nork: Şükran Kurtulmuş, et al.
Argitaratua: (2006-03-01)

Ayurvedic management of spondyloepiphyseal dysplasia tarda, a rare hereditary disorder
nork: Sarvesh Kumar Singh, et al.
Argitaratua: (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)
nork: Nesbit, M, et al.
Argitaratua: (2007)

Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases
nork: Joon Yeon Won, et al.
Argitaratua: (2019-05-01)

Multiple disc herniation in spondyloepiphyseal dysplasia tarda: A rare case report and review of the literature
nork: Zan Chen, et al.
Argitaratua: (2022-12-01)

A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation
nork: Esapa, C, et al.
Argitaratua: (2012)

A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation.
nork: Esapa, C, et al.
Argitaratua: (2012)

A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation.
nork: Esapa, C, et al.
Argitaratua: (2012)

A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family
nork: Cai Zhang, et al.
Argitaratua: (2020-05-01)

COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita
nork: Nenna R, et al.
Argitaratua: (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
nork: Guiyu Lou, et al.
Argitaratua: (2023-08-01)

True Generalized Microdontia and Hypodontia with Spondyloepiphyseal Dysplasia
nork: Anita Singhal, et al.
Argitaratua: (2013-01-01)

An Uncommon Reason of Osteoporosis: Spondyloepiphyseal Dysplasia Congenita
nork: Onur Elbasan, et al.
Argitaratua: (2017-12-01)

The diagnosis of art: Achilles Emperaire and spondyloepiphyseal dysplasia congenita.
nork: Ramachandran, M, et al.
Argitaratua: (2007)

General anaesthesia for parturients with spondyloepiphyseal dysplasia: Risky but possible!
nork: Sukanya Mitra, et al.
Argitaratua: (2016-01-01)

IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC)
nork: Pauline De Kinderen, et al.
Argitaratua: (2023-06-01)

A Mouse with a Ser1386Pro Mutation in the C-propeptide Domain of col2aI Provides a Model for Spondyloepiphyseal Dysplasia Congenita
nork: Esapa, C, et al.
Argitaratua: (2008)

Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita
nork: Wen‐bin Zheng, et al.
Argitaratua: (2020-03-01)

Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia
nork: Ophélie Gourgas, et al.
Argitaratua: (2023-11-01)

Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita
nork: Moe Akahira-Azuma, et al.
Argitaratua: (2022-05-01)

X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene.
nork: Christie, P, et al.
Argitaratua: (2001)

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds
nork: Mehran Kausar, et al.
Argitaratua: (2022-08-01)

Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to the development of osteoarthritis
nork: Tim Rolvien, et al.
Argitaratua: (2020-10-01)

Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia
nork: Ophélie Gourgas, et al.
Argitaratua: (2024-04-01)

MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).
nork: Kennedy, A, et al.
Argitaratua: (2005)

A Novel Mutation c.3392G>T of COL2A1 Causes Spondyloepiphyseal Dysplasia Congenital by Affecting Pre-mRNA Splicing
nork: Lihong Fan, et al.
Argitaratua: (2022-04-01)

Combined, novel management of bilateral varus hip deformity using "Eight-plate" in children with spondyloepiphyseal dysplasia congenita
nork: Josip Vlaić, et al.
Argitaratua: (2023-01-01)

Case Report: Recombinant human growth hormone therapy in a patient with spondyloepiphyseal dysplasia, Kondo-Fu type
nork: Congli Chen, et al.
Argitaratua: (2023-02-01)

X-linked hypophosphataemic rickets due to pseudo-exons of the PHEX gene.
nork: Christie, P, et al.
Argitaratua: (2000)

A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome.
nork: Gaynor, K, et al.
Argitaratua: (2009)

Clinical and molecular characterization of a patient with MBTPS1 related spondyloepiphyseal dysplasia: Evidence of pathogenicity for a synonymous variant
nork: Yeqing Yuan, et al.
Argitaratua: (2023-01-01)