A 5-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a 6-generation Arkansas kindred.

A 5-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a 6-generation Arkansas kindred.

Dades bibliogràfiques
Autors principals:	Mumm, S, Christie, P, Finnegan, P, Jones, J, Dixon, P, Pannett, A, Harding, B, Gottesman, G, Thakker, R, Whyte, M
Format:	Journal article
Publicat:	2000

Ítems similars

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

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

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

Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.
per: Christie, P, et al.
Publicat: (2001)

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

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

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

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

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)
per: Nesbit, M, et al.
Publicat: (2007)

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

Ayurvedic management of spondyloepiphyseal dysplasia tarda, a rare hereditary disorder
per: Sarvesh Kumar Singh, et al.
Publicat: (2016-10-01)

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

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

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

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

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

Linkage studies of a Missouri kindred with autosomal dominant spondyloepimetaphyseal dysplasia (SEMD) indicate genetic heterogeneity.
per: Gertner, J, et al.
Publicat: (1997)

SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1.
per: Jeyabalan, J, et al.
Publicat: (2010)

SEDLIN forms homodimers: Characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1
per: Jeyabalan, J, et al.
Publicat: (2010)

Physical map of the Xq27 candidate region for X-linked recessive hypoparathyroidism in two kindreds merged by mitochondrial DNA analysis
per: Mumm, S, et al.
Publicat: (1996)

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

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

SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1.
per: Jeshmi Jeyabalan, et al.
Publicat: (2010-05-01)

LINKAGE STUDIES IN A KINDRED WITH AUTOSOMAL-DOMINANT SPONDYLOEPIMETAPHYSEAL DYSPLASIA (SEMD) INDICATE GENETIC-HETEROGENEITY
per: Gertner, J, et al.
Publicat: (1995)

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

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

mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation.
per: Mumm, S, et al.
Publicat: (1997)

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

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
per: Guiyu Lou, et al.
Publicat: (2023-08-01)

A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosis.
per: Lemos, M, et al.
Publicat: (2005)

The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred.
per: Cavaco, B, et al.
Publicat: (2001)

Spondyloepimetaphyseal dysplasia, Missouri variant, is located on chromosome 11q22.3 and is caused by a mutation of matrix metalloproteinase 13 (MMP13).
per: Kennedy, A, et al.
Publicat: (2002)

COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita
per: Nenna R, et al.
Publicat: (2019-12-01)

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

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

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

Total Knee Arthroplasty in Spondyloepiphyseal Dysplasia with Irreducible Congenital Dislocation of the Patella: Case Report and Literature Review
per: Sponer P, et al.
Publicat: (2021-03-01)

A novel AVPR2 mutation in a kindred with nephrogenic diabetes insipidus
per: Lemos, M, et al.
Publicat: (2002)

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

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