PMC Links for Books (Select 2963966) - PMC

Select item 93144841.

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

Select item 47319252.

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 45437403.

Caffey disease in neonatal period: the importance of the family!

Ana Rita Prior, Oana Moldovan, António Azevedo, Carlos Moniz

BMJ Case Rep. 2012; 2012: bcr2012006996. Published online 2012 Oct 9. doi: 10.1136/bcr-2012-006996

PMCID:: PMC4543740

Abstract Article PDF–229K

Select item 32154904.

Caffey Disease or Infantile Cortical Hyperostosis: A Case Report

Narayanan Kutty, Doylene Thomas, Lionel George, Thomas B. John

Oman Med J. 2010 Apr; 25(2): 134–136. doi: 10.5001/omj.2010.36

PMCID:: PMC3215490

Abstract Article PDF–347K

Select item 31979085.

Infantile cortical hyperostosis and COL1A1 mutation in four generations

Paola Cerruti-Mainardi, Giacomo Venturi, Marianna Spunton, Elena Favaron, Michela Zignani, Sandro Provera, Bruno Dallapiccola

Eur J Pediatr. 2011; 170(11): 1385–1390. Published online 2011 May 13. doi: 10.1007/s00431-011-1463-0

PMCID:: PMC3197908

Abstract Article PDF–410K

Select item 26518566.

Professional awareness is needed to distinguish between child physical abuse from other disorders that can mimic signs of abuse (Skull base sclerosis in infant manifesting features of infantile cortical hyperostosis): a case report and review of the literature

Ali Al Kaissi, Gert Petje, Veerla De Brauwer, Franz Grill, Klaus Klaushofer

Cases J. 2009; 2: 133. Published online 2009 Feb 9. doi: 10.1186/1757-1626-2-133

PMCID:: PMC2651856

Abstract Article PDF–538K

Select item 18892997.

Infantile Cortical Hyperostosis; A Review of the Clinical and Radiographic Features

John Caffey

Proc R Soc Med. 1957 May; 50(5): 347–354.

PMCID:: PMC1889299

Summary Page Browse PDF–3.2M

Select item 10871588.

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

Robert C. Gensure, Outi Mäkitie, Catherine Barclay, Catherine Chan, Steven R. DePalma, Murat Bastepe, Hilal Abuzahra, Richard Couper, Stefan Mundlos, David Sillence, Leena Ala Kokko, Jonathan G. Seidman, William G. Cole, Harald Jüppner

J Clin Invest. 2005 May 2; 115(5): 1250–1257. doi: 10.1172/JCI22760

PMCID:: PMC1087158

Abstract Article PDF–832K

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