PMC Links for Books (Select 4289566) - PMC

Select item 100819541.

Nosology of genetic skeletal disorders: 2023 revision

Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier-Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew Warman, Andrea Superti-Furga

Am J Med Genet A. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Am J Med Genet A. 2023 May; 191(5): 1164–1209. Published online 2023 Feb 13. doi: 10.1002/ajmg.a.63132

PMCID:: PMC10081954

Abstract Article PDF–894K

Select item 93144842.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Abstract Article PDF–776K

Select item 82833163.

Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations

Hanan Elsebaie, Mohamed Abdelhafiz Mansour, Solaf M. Elsayed, Shady Mahmoud, Tamer A. El-Sobky

Bone Rep. 2021 Dec; 15: 101106. Published online 2021 Jul 10. doi: 10.1016/j.bonr.2021.101106

PMCID:: PMC8283316

Abstract Article PDF–1.8M

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 66876245.

A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy

Liisa Kröger, Tuija Löppönen, Leena Ala‐Kokko, Heikki Kröger, Hanna‐Mari Jauhonen, Kaisa Lehti, Jarmo Jääskeläinen

Mol Genet Genomic Med. 2019 Aug; 7(8): e802. Published online 2019 Jul 3. doi: 10.1002/mgg3.802

PMCID:: PMC6687624

Abstract Article PDF–780K

Select item 50431876.

Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach

Karin Pichler, Daniela Karall, Dieter Kotzot, Elisabeth Steichen-Gersdorf, Alexandra Rümmele-Waibel, Laureane Mittaz-Crettol, Julia Wanschitz, Luisa Bonafé, Kathrin Maurer, Andrea Superti-Furga, Sabine Scholl-Bürgi

Sci Rep. 2016; 6: 34017. Published online 2016 Sep 30. doi: 10.1038/srep34017

PMCID:: PMC5043187

Abstract Article PDF–878K

Select item 45447537.

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 39867388.

Patient with Mutation in the Matrix Metalloproteinase 2 (MMP2) Gene - A Case Report and Review of the Literature

Alka V. Ekbote, Sumita Danda, Andreas Zankl, Kausik Mandal, Tina Maguire, Kobus Ungerer

J Clin Res Pediatr Endocrinol. 2014 Mar; 6(1): 40–46. Published online 2014 Mar 5. doi: 10.4274/Jcrpe.1166

PMCID:: PMC3986738

Abstract Article PDF–124K

Select item 35120029.

Mutation of Membrane Type-1 Metalloproteinase, MT1-MMP, Causes the Multicentric Osteolysis and Arthritis Disease Winchester Syndrome

Brad R. Evans, Rebecca A. Mosig, Mollie Lobl, Chiara R. Martignetti, Catalina Camacho, Valerie Grum-Tokars, Marc J. Glucksman, John A. Martignetti

Am J Hum Genet. 2012 Sep 7; 91(3): 572–576. doi: 10.1016/j.ajhg.2012.07.022

PMCID:: PMC3512002

Abstract Article PDF–948K

Select item 272182310.

A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects

Beyhan Tuysuz, Rebecca Mosig, Gürkan Altun, Selim Sancak, Marc J Glucksman, John A Martignetti

Eur J Hum Genet. 2009 May; 17(5): 565–572. Published online 2008 Nov 5. doi: 10.1038/ejhg.2008.204

PMCID:: PMC2721823

Abstract Article PDF–292K

Select item 257651711.

Loss of MMP-2 disrupts skeletal and craniofacial development, and results in decreased bone mineralization, joint erosion, and defects in osteoblast and osteoclast growth

Rebecca A. Mosig, Oonagh Dowling, Analisa DiFeo, Maria Celeste M. Ramirez, Ian C. Parker, Etsuko Abe, Janane Diouri, Aida Al Aqeel, James D. Wylie, Samantha A. Oblander, Joseph Madri, Paolo Bianco, Suneel S. Apte, Mone Zaidi, Stephen B. Doty, Robert J. Majeska, Mitchell B. Schaffler, John A. Martignetti

Hum Mol Genet. Author manuscript; available in PMC 2008 Oct 31.

Published in final edited form as: Hum Mol Genet. 2007 May 1; 16(9): 1113–1123. Published online 2007 Mar 30. doi: 10.1093/hmg/ddm060

PMCID:: PMC2576517

Abstract Article PDF–1.5M

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