PMC Links for Books (Select 5225034) - PMC

Select item 80373991.

Periodontitis Prevalence, Severity, and Risk Factors: A Comparison of the AAP/CDC Case Definition and the EFP/AAP Classification

Meliha Germen, Ulku Baser, Cagdas Caglar Lacin, Erhan Fıratlı, Halim İşsever, Funda Yalcin

Int J Environ Res Public Health. 2021 Apr; 18(7): 3459. Published online 2021 Mar 26. doi: 10.3390/ijerph18073459

PMCID:: PMC8037399

Abstract Article PDF–322K

Select item 79124412.

Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome

Friedrich Stock, Marcel Hanisch, Sarah Lechner, Saskia Biskup, Axel Bohring, Johannes Zschocke, Ines Kapferer-Seebacher

Biomolecules. 2021 Feb; 11(2): 149. Published online 2021 Jan 24. doi: 10.3390/biom11020149

PMCID:: PMC7912441

Abstract Article PDF–1.4M

Select item 69301493.

Two Different Missense C1S Mutations, Associated to Periodontal Ehlers-Danlos Syndrome, Lead to Identical Molecular Outcomes

Isabelle Bally, Fabien Dalonneau, Anne Chouquet, Rebekka Gröbner, Albert Amberger, Ines Kapferer-Seebacher, Heribert Stoiber, Johannes Zschocke, Nicole M. Thielens, Véronique Rossi, Christine Gaboriaud

Front Immunol. 2019; 10: 2962. Published online 2019 Dec 18. doi: 10.3389/fimmu.2019.02962

PMCID:: PMC6930149

Abstract Article PDF–1.2M

Select item 68481654.

C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome

Rebekka Gröbner, Ines Kapferer-Seebacher, Albert Amberger, Rita Redolfi, Fabien Dalonneau, Erik Björck, Di Milnes, Isabelle Bally, Veronique Rossi, Nicole Thielens, Heribert Stoiber, Christine Gaboriaud, Johannes Zschocke

Front Immunol. 2019; 10: 2537. Published online 2019 Nov 5. doi: 10.3389/fimmu.2019.02537

Correction in:: Front Immunol. 2019; 10: 2837.

PMCID:: PMC6848165

Abstract Article PDF–1.3M

Select item 64116705.

Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy

Ines Kapferer-Seebacher, Quinten Waisfisz, Sylvia Boesch, Marieke Bronk, Peter van Tintelen, Elke R. Gizewski, Rebekka Groebner, Johannes Zschocke, Marjo S. van der Knaap

Neurogenetics. 2019; 20(1): 1–8. Published online 2018 Dec 8. doi: 10.1007/s10048-018-0560-x

PMCID:: PMC6411670

Abstract Article PDF–3.7M

Select item 62825296.

High risk of peri‐implant disease in periodontal Ehlers–Danlos Syndrome. A case series

Alexander Rinner, Johannes Zschocke, Anna Schossig, Rebekka Gröbner, Heinrich Strobl, Ines Kapferer‐Seebacher

Clin Oral Implants Res. 2018 Nov; 29(11): 1101–1106. Published online 2018 Oct 8. doi: 10.1111/clr.13373

PMCID:: PMC6282529

Abstract Article PDF–739K

Select item 56098117.

Deficiency of Complement 1r subcomponent in early-onset SLE: Role for disease-modifying alleles in a monogenic disease

Erkan Demirkaya, Qing Zhou, Carolyne K. Smith, Michael J. Ombrello, Natalie Deuitch, Wanxia L. Tsai, Patrycja Hoffmann, Elaine F. Remmers, Masaki Takeuchi, Yong Hwan Park, JaeJin Chae, Kenan Barut, Dogan Simsek, Amra Adrovic, Sezgin Sahin, Salim Caliskan, Settara C. Chandrasekharappa, Sarfaraz A Hasni, Amanda K. Ombrello, Massimo Gadina, Daniel L. Kastner, Mariana J. Kaplan, Ozgur Kasapcopur, Ivona Aksentijevich

Arthritis Rheumatol. Author manuscript; available in PMC 2018 Sep 1.

Published in final edited form as: Arthritis Rheumatol. 2017 Sep; 69(9): 1832–1839. Published online 2017 Jul 10. doi: 10.1002/art.40158

PMCID:: PMC5609811

Abstract Article PDF–574K

Select item 50979488.

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

Ines Kapferer-Seebacher, Melanie Pepin, Roland Werner, Timothy J. Aitman, Ann Nordgren, Heribert Stoiber, Nicole Thielens, Christine Gaboriaud, Albert Amberger, Anna Schossig, Robert Gruber, Cecilia Giunta, Michael Bamshad, Erik Björck, Christina Chen, David Chitayat, Michael Dorschner, Marcus Schmitt-Egenolf, Christopher J. Hale, David Hanna, Hans Christian Hennies, Irene Heiss-Kisielewsky, Anna Lindstrand, Pernilla Lundberg, Anna L. Mitchell, Deborah A. Nickerson, Eyal Reinstein, Marianne Rohrbach, Nikolaus Romani, Matthias Schmuth, Rachel Silver, Fulya Taylan, Anthony Vandersteen, Jana Vandrovcova, Ruwan Weerakkody, Margaret Yang, F. Michael Pope, Molecular Basis of Periodontal EDS Consortium, Peter H. Byers, Johannes Zschocke

Am J Hum Genet. 2016 Nov 3; 99(5): 1005–1014. Published online 2016 Oct 13. doi: 10.1016/j.ajhg.2016.08.019

PMCID:: PMC5097948

Abstract Article PDF–1.6M

Select item 47951919.

The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome

Michael Frank, Juliette Albuisson, Brigitte Ranque, Lisa Golmard, Jean-Michael Mazzella, Laurence Bal-Theoleyre, Anne-Laure Fauret, Tristan Mirault, Nicolas Denarié, Elie Mousseaux, Pierre Boutouyrie, Jean-Noël Fiessinger, Joseph Emmerich, Emmanuel Messas, Xavier Jeunemaitre

Eur J Hum Genet. 2015 Dec; 23(12): 1657–1664. Published online 2015 Mar 11. doi: 10.1038/ejhg.2015.32

PMCID:: PMC4795191

Abstract Article PDF–1.3M

Select item 476469410.

Systemic Lupus Erythematosus and Deficiencies of Early Components of the Complement Classical Pathway

Ana Catarina Lunz Macedo, Lourdes Isaac

Front Immunol. 2016; 7: 55. Published online 2016 Feb 24. doi: 10.3389/fimmu.2016.00055

PMCID:: PMC4764694

Abstract Article PDF–166K

Select item 473192511.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 454475312.

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 424282213.

Fatal Ruptured Blood Blister-like Aneurysm of Middle Cerebral Artery Associated with Ehlers-Danlos Syndrome Type VIII (Periodontitis Type)

Ulaş Cıkla, Alireza Sadighi, Andrew Bauer, Mustafa K. Başkaya

J Neurol Surg Rep. 2014 Dec; 75(2): e210–e213. Published online 2014 Aug 11. doi: 10.1055/s-0034-1387185

PMCID:: PMC4242822

Abstract Article PDF–191K

Select item 380936714.

Ehlers-Danlos Syndrome Type VIII: A Rare Cause of Leg Ulcers in Young Patients

Sophie Ronceray, Juliette Miquel, Antoine Lucas, Gérald E. Piérard, Trinh Hermanns-Lê, Anne De Paepe, Alain Dupuy

Case Rep Dermatol Med. 2013; 2013: 469505. Published online 2013 Oct 3. doi: 10.1155/2013/469505

PMCID:: PMC3809367

Abstract Article PDF–1.1M

Select item 128820315.

Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen

Lieve Nuytinck, Margarida Freund, Lieven Lagae, Gerald E. Pierard, Trinh Hermanns-Le, Anne De Paepe

Am J Hum Genet. 2000 Apr; 66(4): 1398–1402. Published online 2000 Mar 17. doi: 10.1086/302859

PMCID:: PMC1288203

Abstract Article PDF–1.0M

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