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...

תיאור מלא

מידע ביבליוגרפי
Main Authors:	Christie, P, Curley, A, Nesbit, M, Chapman, C, Genet, S, Harper, P, Keeling, S, Wilkie, A, Winter, R, Thakker, R
פורמט:	Journal article
שפה:	English
יצא לאור:	2001

פריטים דומים

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

Spondyloepiphyseal Dysplasia Tarda in Twins
מאת: Ferhat Çekmez, et al.
יצא לאור: (2011-08-01)

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

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

Spondyloepiphyseal dysplasia tarda with progressive arthropathy
מאת: Ece Kaptanoğlu, et al.
יצא לאור: (2004-10-01)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).
מאת: Kennedy, A, et al.
יצא לאור: (2005)

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

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

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

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

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

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