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.

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون:	Mumm, S, Christie, P, Finnegan, P, Jones, J, Dixon, P, Pannett, A, Harding, B, Gottesman, G, Thakker, R, Whyte, M
التنسيق:	Journal article
منشور في:	2000

مواد مشابهة

A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred.
حسب: Mumm, S, وآخرون
منشور في: (2000)

Characterization of two genes within the candidate region for X-linked spondyloepiphyseal dysplasia tarda.
حسب: Mumm, S, وآخرون
منشور في: (1997)

Characterization of two genes within the candidate region for X-linked spondyloepiphyseal dysplasia tarda.
حسب: Mumm, S, وآخرون
منشور في: (1997)

Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.
حسب: Christie, P, وآخرون
منشور في: (2001)

Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)
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منشور في: (2018-01-01)

Mutational analysis in X-linked Spondyloepiphyseal Dysplasia Tarda (SEDT).
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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)
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منشور في: (2007)

Spondyloepiphyseal Dysplasia Tarda and Osteoporosis: A Case Report - Case Report
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Ayurvedic management of spondyloepiphyseal dysplasia tarda, a rare hereditary disorder
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High-throughput sequencing analysis of deletion mutation of TRAPPC2 in an X-linked spondyloepiphyseal dysplasia tarda pedigree
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A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family
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Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds
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Multiple disc herniation in spondyloepiphyseal dysplasia tarda: A rare case report and review of the literature
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Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases
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منشور في: (2019-05-01)

Linkage studies of a Missouri kindred with autosomal dominant spondyloepimetaphyseal dysplasia (SEMD) indicate genetic heterogeneity.
حسب: Gertner, J, وآخرون
منشور في: (1997)

SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1.
حسب: Jeyabalan, J, وآخرون
منشور في: (2010)

SEDLIN forms homodimers: Characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1
حسب: Jeyabalan, J, وآخرون
منشور في: (2010)

Physical map of the Xq27 candidate region for X-linked recessive hypoparathyroidism in two kindreds merged by mitochondrial DNA analysis
حسب: Mumm, S, وآخرون
منشور في: (1996)

True Generalized Microdontia and Hypodontia with Spondyloepiphyseal Dysplasia
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منشور في: (2013-01-01)

An Uncommon Reason of Osteoporosis: Spondyloepiphyseal Dysplasia Congenita
حسب: Onur Elbasan, وآخرون
منشور في: (2017-12-01)

SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1.
حسب: Jeshmi Jeyabalan, وآخرون
منشور في: (2010-05-01)

LINKAGE STUDIES IN A KINDRED WITH AUTOSOMAL-DOMINANT SPONDYLOEPIMETAPHYSEAL DYSPLASIA (SEMD) INDICATE GENETIC-HETEROGENEITY
حسب: Gertner, J, وآخرون
منشور في: (1995)

The diagnosis of art: Achilles Emperaire and spondyloepiphyseal dysplasia congenita.
حسب: Ramachandran, M, وآخرون
منشور في: (2007)

General anaesthesia for parturients with spondyloepiphyseal dysplasia: Risky but possible!
حسب: Sukanya Mitra, وآخرون
منشور في: (2016-01-01)

mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation.
حسب: Mumm, S, وآخرون
منشور في: (1997)

IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC)
حسب: Pauline De Kinderen, وآخرون
منشور في: (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
حسب: Guiyu Lou, وآخرون
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A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosis.
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The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred.
حسب: Cavaco, B, وآخرون
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Spondyloepimetaphyseal dysplasia, Missouri variant, is located on chromosome 11q22.3 and is caused by a mutation of matrix metalloproteinase 13 (MMP13).
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COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita
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A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation
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A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation.
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Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia
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