PMC Links for Books (Select 5363558) - PMC

Select item 74972891.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 69476052.

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

Lucia Micale, Vito Guarnieri, Bartolomeo Augello, Orazio Palumbo, Emanuele Agolini, Valentina Maria Sofia, Tommaso Mazza, Antonio Novelli, Massimo Carella, Marco Castori

Genes (Basel) 2019 Dec; 10(12): 967. Published online 2019 Nov 25. doi: 10.3390/genes10120967

PMCID:: PMC6947605

Abstract Article PDF–1.1M

Select item 68958883.

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

Daisy Rymen, Marco Ritelli, Nicoletta Zoppi, Valeria Cinquina, Cecilia Giunta, Marianne Rohrbach, Marina Colombi

Genes (Basel) 2019 Nov; 10(11): 843. Published online 2019 Oct 25. doi: 10.3390/genes10110843

PMCID:: PMC6895888

Abstract Article PDF–1.8M

Select item 60574774.

Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome

Walter L Miller, Deborah P Merke

Horm Res Paediatr. Author manuscript; available in PMC 2019 May 7.

Published in final edited form as: Horm Res Paediatr. 2018; 89(5): 352–361. Published online 2018 May 7. doi: 10.1159/000481911

PMCID:: PMC6057477

Abstract Article PDF–1.4M

Select item 49832065.

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

Wuyan Chen, Ashley F. Perritt, Rachel Morissette, Jennifer L. Dreiling, Markus-Frederik Bohn, Ashwini Mallappa, Zhi Xu, Martha Quezado, Deborah P. Merke

Hum Mutat. Author manuscript; available in PMC 2017 Sep 1.

Published in final edited form as: Hum Mutat. 2016 Sep; 37(9): 893–897. Published online 2016 Jul 8. doi: 10.1002/humu.23028

PMCID:: PMC4983206

Abstract Article PDF–1.9M

Select item 45447536.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 45250007.

Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia

Rachel Morissette, Wuyan Chen, Ashley F. Perritt, Jennifer L. Dreiling, Andrew E. Arai, Vandana Sachdev, Hwaida Hannoush, Ashwini Mallappa, Zhi Xu, Nazli B. McDonnell, Martha Quezado, Deborah P. Merke

J Clin Endocrinol Metab. 2015 Aug; 100(8): E1143–E1152. Published online 2015 Jun 15. doi: 10.1210/jc.2015-2232

PMCID:: PMC4525000

Abstract Article

Select item 43007948.

Neurological manifestations of Ehlers-Danlos syndrome(s): A review

Marco Castori, Nicol C. Voermans

Iran J Neurol. 2014 Oct 6; 13(4): 190–208.

PMCID:: PMC4300794

Abstract Article PDF–811K

Select item 37367179.

TNXB Mutations Can Cause Vesicoureteral Reflux

Rasheed A. Gbadegesin, Patrick D. Brophy, Adebowale Adeyemo, Gentzon Hall, Indra R. Gupta, David Hains, Bartlomeij Bartkowiak, C. Egla Rabinovich, Settara Chandrasekharappa, Alison Homstad, Katherine Westreich, Guanghong Wu, Yutao Liu, Danniele Holanda, Jason Clarke, Peter Lavin, Angelica Selim, Sara Miller, John S. Wiener, Sherry S. Ross, John Foreman, Charles Rotimi, Michelle P. Winn

J Am Soc Nephrol. 2013 Jul 31; 24(8): 1313–1322. Published online 2013 Apr 25. doi: 10.1681/ASN.2012121148

PMCID:: PMC3736717

Abstract Article

Select item 118058410.

Haploinsufficiency of TNXB Is Associated with Hypermobility Type of Ehlers-Danlos Syndrome

Manon C. Zweers, Jim Bristow, Peter M. Steijlen, Willow B. Dean, Ben C. Hamel, Marisol Otero, Martina Kucharekova, Jan B. Boezeman, Joost Schalkwijk

Am J Hum Genet. 2003 Jul; 73(1): 214–217. doi: 10.1086/376564

PMCID:: PMC1180584

Article PDF–231K

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