Similar articles for PMID: 31365140

Year	Number of Results
1969	1
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1997	1
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2003	3
2004	1
2005	9
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2022	20
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2024	0

1

Compound heterozygosity for TNXB genetic variants in a mixed-breed dog with Ehlers-Danlos syndrome.

Bauer A, de Lucia M, Leuthard F, Jagannathan V, Leeb T. Bauer A, et al. Anim Genet. 2019 Oct;50(5):546-549. doi: 10.1111/age.12830. Epub 2019 Jul 31. Anim Genet. 2019. PMID: 31365140

2

Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome.

Micale L, Guarnieri V, Augello B, Palumbo O, Agolini E, Sofia VM, Mazza T, Novelli A, Carella M, Castori M. Micale L, et al. Genes (Basel). 2019 Nov 25;10(12):967. doi: 10.3390/genes10120967. Genes (Basel). 2019. PMID: 31775249 Free PMC article.

3

Identification of Two Independent COL5A1 Variants in Dogs with Ehlers-Danlos Syndrome.

Bauer A, Bateman JF, Lamandé SR, Hanssen E, Kirejczyk SGM, Yee M, Ramiche A, Jagannathan V, Welle M, Leeb T, Bateman FL. Bauer A, et al. Genes (Basel). 2019 Sep 21;10(10):731. doi: 10.3390/genes10100731. Genes (Basel). 2019. PMID: 31546637 Free PMC article.

4

An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.

Mackenroth L, Fischer-Zirnsak B, Egerer J, Hecht J, Kallinich T, Stenzel W, Spors B, von Moers A, Mundlos S, Kornak U, Gerhold K, Horn D. Mackenroth L, et al. Am J Med Genet A. 2016 Apr;170A(4):1080-5. doi: 10.1002/ajmg.a.37547. Epub 2016 Jan 22. Am J Med Genet A. 2016. PMID: 26799614

5

A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.

Lao Q, Mallappa A, Rueda Faucz F, Joyal E, Veeraraghavan P, Chen W, Merke DP. Lao Q, et al. Mol Genet Genomic Med. 2021 Feb;9(2):e1556. doi: 10.1002/mgg3.1556. Epub 2020 Dec 17. Mol Genet Genomic Med. 2021. PMID: 33332743 Free PMC article.

6

A COL5A2 In-Frame Deletion in a Chihuahua with Ehlers-Danlos Syndrome.

Kiener S, Chevallier L, Jagannathan V, Briand A, Cochet-Faivre N, Reyes-Gomez E, Leeb T. Kiener S, et al. Genes (Basel). 2022 May 23;13(5):934. doi: 10.3390/genes13050934. Genes (Basel). 2022. PMID: 35627319 Free PMC article.

7

Rare neurological manifestations in a Saudi Arabian patient with Ehlers-Danlos syndrome and a novel homozygous variant in the TNXB gene.

Al-Harbi TM, Al-Rammah H, Al-Zahrani N, Liu Y, Sleiman PMA, Dridi W, Hakonarson H. Al-Harbi TM, et al. Am J Med Genet A. 2022 Feb;188(2):618-623. doi: 10.1002/ajmg.a.62539. Epub 2021 Oct 11. Am J Med Genet A. 2022. PMID: 34636138

8

TNXB-Related Classical-Like Ehlers-Danlos Syndrome.

van Dijk FS, Ghali N, Demirdas S, Baker D. van Dijk FS, et al. 2022 Sep 15. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2022 Sep 15. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 36108117 Free Books & Documents. Review.

9

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant.

Rymen D, Ritelli M, Zoppi N, Cinquina V, Giunta C, Rohrbach M, Colombi M. Rymen D, et al. Genes (Basel). 2019 Oct 25;10(11):843. doi: 10.3390/genes10110843. Genes (Basel). 2019. PMID: 31731524 Free PMC article.

10

Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.

Chen W, Perritt AF, Morissette R, Dreiling JL, Bohn MF, Mallappa A, Xu Z, Quezado M, Merke DP. Chen W, et al. Hum Mutat. 2016 Sep;37(9):893-7. doi: 10.1002/humu.23028. Epub 2016 Jul 8. Hum Mutat. 2016. PMID: 27297501 Free PMC article. Clinical Trial.

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