PMC Links for Books (Select 1462320) - PMC

Select item 92980681.

Oral manifestations of Ehlers‐Danlos syndromes

Ulrike Lepperdinger, Johannes Zschocke, Ines Kapferer‐Seebacher

Am J Med Genet C Semin Med Genet. 2021 Dec; 187(4): 520–526. Published online 2021 Nov 6. doi: 10.1002/ajmg.c.31941

PMCID:: PMC9298068

Select item 87022152.

Gonosomal Mosaicism for a Novel COL5A1 Pathogenic Variant in Classic Ehlers-Danlos Syndrome

Lucia Micale, Thomas Foiadelli, Federica Russo, Luigia Cinque, Francesco Bassanese, Matteo Granatiero, Carmela Fusco, Salvatore Savasta, Marco Castori

Genes (Basel) 2021 Dec; 12(12): 1928. Published online 2021 Nov 29. doi: 10.3390/genes12121928

PMCID:: PMC8702215

Abstract Article PDF–1.3M

Select item 81108033.

Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders

Bertrand Chesneau, Aurélie Plancke, Guillaume Rolland, Nicolas Chassaing, Christine Coubes, Elise Brischoux-Boucher, Thomas Edouard, Yves Dulac, Marion Aubert-Mucca, Thierry Lavabre-Bertrand, Julie Plaisancié, Philippe Khau Van Kien

Eur J Hum Genet. 2021 May; 29(5): 771–779. Published online 2021 Jan 7. doi: 10.1038/s41431-020-00797-3

PMCID:: PMC8110803

Abstract Article PDF–1.3M

Select item 74972894.

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 45447535.

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 36537136.

Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

Marco Ritelli, Chiara Dordoni, Marina Venturini, Nicola Chiarelli, Stefano Quinzani, Michele Traversa, Nicoletta Zoppi, Annalisa Vascellaro, Anita Wischmeijer, Emanuela Manfredini, Livia Garavelli, Piergiacomo Calzavara-Pinton, Marina Colombi

Orphanet J Rare Dis. 2013; 8: 58. Published online 2013 Apr 12. doi: 10.1186/1750-1172-8-58

PMCID:: PMC3653713

Abstract Article PDF–3.0M

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