PMC Links for Books (Select 4215304) - 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

Article PDF–2.5M

Select item 66572092.

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients

Sara Guerrero-Aspizua, Claudio J. Conti, Maria Jose Escamez, Daniele Castiglia, Giovanna Zambruno, Leila Youssefian, Hassan Vahidnezhad, Luis Requena, Peter Itin, Gianluca Tadini, Ivelina Yordanova, Ludovic Martin, Jouni Uitto, Cristina Has, Marcela Del Rio

Orphanet J Rare Dis. 2019; 14: 183. Published online 2019 Jul 24. doi: 10.1186/s13023-019-1158-6

PMCID:: PMC6657209

Article PDF–945K

Select item 45447533.

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

Article PDF–960K

Select item 38759984.

Sporadic Kindler Syndrome with a novel mutation

Hiram Larangeira de Almeida Jr, Gláucia Thomas Heckler, Kenneth Fong, Joey Lai-Cheong, John McGrath

An Bras Dermatol. 2013 Nov-Dec; 88(6 Suppl 1): 212–215. doi: 10.1590/abd1806-4841.20132173

PMCID:: PMC3875998

Article PDF–556K

Select item 33369935.

Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination

Dimitra Kiritsi, Yinghong He, Anna M.G. Pasmooij, Meltem Onder, Rudolf Happle, Marcel F. Jonkman, Leena Bruckner-Tuderman, Cristina Has

J Clin Invest. 2012 May 1; 122(5): 1742–1746. Published online 2012 Apr 2. doi: 10.1172/JCI61976

PMCID:: PMC3336993

Article PDF–732K

Select item 32713016.

Hereditary Sclerosing Poikiloderma

Hyo Jin Lee, Dong Hoon Shin, Jong Soo Choi, Ki Hong Kim

J Korean Med Sci. 2012 Feb; 27(2): 225–227. Published online 2012 Jan 27. doi: 10.3346/jkms.2012.27.2.225

PMCID:: PMC3271301

Article PDF–1.2M

Select item 26034607.

Kindlins: essential regulators of integrin signalling and cell–matrix adhesion

Hannu Larjava, Edward F Plow, Chuanyue Wu

EMBO Rep. 2008 Dec; 9(12): 1203–1208. Published online 2008 Nov 7. doi: 10.1038/embor.2008.202

PMCID:: PMC2603460

Article PDF–412K

Select item 11805798.

Loss of Kindlin-1, a Human Homolog of the Caenorhabditis elegans Actin–Extracellular-Matrix Linker Protein UNC-112, Causes Kindler Syndrome

Dawn H. Siegel, Gabrielle H. S. Ashton, Homero G. Penagos, James V. Lee, Heidi S. Feiler, Kirk C. Wilhelmsen, Andrew P. South, Frances J. D. Smith, Alan R. Prescott, Vesarat Wessagowit, Noritaka Oyama, Masashi Akiyama, Daifullah Al Aboud, Khalid Al Aboud, Ahmad Al Githami, Khalid Al Hawsawi, Abla Al Ismaily, Raouf Al-Suwaid, David J. Atherton, Ruggero Caputo, Jo-David Fine, Ilona J. Frieden, Elaine Fuchs, Richard M. Haber, Takashi Harada, Yasuo Kitajima, Susan B. Mallory, Hideoki Ogawa, Sedef Sahin, Hiroshi Shimizu, Yasushi Suga, Gianluca Tadini, Kikuo Tsuchiya, Colin B. Wiebe, Fenella Wojnarowska, Adel B. Zaghloul, Takahiro Hamada, Rajeev Mallipeddi, Robin A. J. Eady, W. H. Irwin McLean, John A. McGrath, Ervin H. Epstein

Am J Hum Genet. 2003 Jul; 73(1): 174–187. Published online 2003 Jun 3. doi: 10.1086/376609

PMCID:: PMC1180579

Article PDF–831K

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