PMC Links for Books (Select 5371352) - PMC

Select item 82063821.

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome

Lore Pottie, Christin S. Adamo, Aude Beyens, Steffen Lütke, Piyanoot Tapaneeyaphan, Adelbert De Clercq, Phil L. Salmon, Riet De Rycke, Alper Gezdirici, Elif Yilmaz Gulec, Naz Khan, Jill E. Urquhart, William G. Newman, Kay Metcalfe, Stephanie Efthymiou, Reza Maroofian, Najwa Anwar, Shazia Maqbool, Fatima Rahman, Ikhlass Altweijri, Monerah Alsaleh, Sawsan Mohamed Abdullah, Mohammad Al-Owain, Mais Hashem, Henry Houlden, Fowzan S. Alkuraya, Patrick Sips, Gerhard Sengle, Bert Callewaert

Am J Hum Genet. 2021 Jun 3; 108(6): 1095–1114. Published online 2021 May 14. doi: 10.1016/j.ajhg.2021.04.016

Correction in:: Am J Hum Genet. 2021 Dec 2; 108(12): 2386–2388.

PMCID:: PMC8206382

Article PDF–5.3M

Select item 80669072.

Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations

Maxim Verlee, Aude Beyens, Alper Gezdirici, Elif Yilmaz Gulec, Lore Pottie, Silke De Feyter, Michiel Vanhooydonck, Piyanoot Tapaneeyaphan, Sofie Symoens, Bert Callewaert

Genes (Basel) 2021 Apr; 12(4): 510. Published online 2021 Mar 31. doi: 10.3390/genes12040510

PMCID:: PMC8066907

Article PDF–562K

Select item 77516113.

A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies

Camilo Andres Velandia-Piedrahita, Adrien Morel, Dora Janeth Fonseca-Mendoza, Victor Manuel Huertas-Quiñones, David Castillo, Juan Diego Bonilla, Camilo José Hernandez-Toro, Marta Catalina Miranda-Fernández, Carlos Martin Restrepo, Rodrigo Cabrera

Appl Clin Genet. 2020; 13: 233–240. Published online 2020 Dec 17. doi: 10.2147/TACG.S282240

PMCID:: PMC7751611

Article PDF–4.6M

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

Article PDF–2.5M

Select item 66785395.

Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature

Aude Beyens, Kyaran Van Meensel, Lore Pottie, Riet De Rycke, Michiel De Bruyne, Femke Baeke, Piet Hoebeke, Frank Plasschaert, Bart Loeys, Sofie De Schepper, Sofie Symoens, Bert Callewaert

Genes (Basel) 2019 Jul; 10(7): 528. Published online 2019 Jul 12. doi: 10.3390/genes10070528

PMCID:: PMC6678539

Article PDF–3.3M

Select item 63574006.

A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report

E. G. Okuneva, A. A. Kozina, N. V. Baryshnikova, A. Yu Krasnenko, K. Yu Tsukanov, O. I. Klimchuk, E. I. Surkova, V. V. Ilinsky

BMC Dermatol. 2019; 19: 4. Published online 2019 Jan 31. doi: 10.1186/s12895-019-0084-6

PMCID:: PMC6357400

Article PDF–1.8M

Select item 58385277.

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1

Juliette Piard, James Lespinasse, Marketa Vlckova, Martin A. Mensah, Sorin Iurian, Martina Simandlova, Marcela Malikova, Oliver Bartsch, Massimiliano Rossi, Marion Lenoir, Frédérique Nugues, Stefan Mundlos, Uwe Kornak, Philip Stanier, Sérgio B. Sousa, Lionel Van Maldergem

Am J Med Genet A. 2018 Mar; 176(3): 668–675. Published online 2018 Jan 17. doi: 10.1002/ajmg.a.38604

PMCID:: PMC5838527

Article PDF–8.8M

Select item 47319258.

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

Article PDF–1.6M

Select item 45447539.

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 359900810.

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

Smail Hadj-Rabia, Bert L Callewaert, Emmanuelle Bourrat, Marlies Kempers, Astrid S Plomp, Valerie Layet, Deborah Bartholdi, Marjolijn Renard, Julie De Backer, Fransiska Malfait, Olivier M Vanakker, Paul J Coucke, Anne M De Paepe, Christine Bodemer

Orphanet J Rare Dis. 2013; 8: 36. Published online 2013 Feb 25. doi: 10.1186/1750-1172-8-36

PMCID:: PMC3599008

Article PDF–858K

Select item 338365411.

New insights into the pathogenesis of autosomal dominant cutis laxa with report of five ELN mutations

Bert Callewaert, Marjolijn Renard, Vishwanathan Hucthagowder, Beate Albrecht, Ingrid Hausser, Edward Blair, Cristina Dias, Alice Albino, Hiroshi Wachi, Fumiaki Sato, Robert P. Mecham, Bart Loeys, Paul J. Coucke, Anne De Paepe, Zsolt Urban

Hum Mutat. Author manuscript; available in PMC 2012 Jun 26.

Published in final edited form as: Hum Mutat. 2011 Apr; 32(4): 445–455. Published online 2011 Mar 1. doi: 10.1002/humu.21462

PMCID:: PMC3383654

Article PDF–1.7M

Select item 272523112.

RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome

Lina Basel-Vanagaite, Ofer Sarig, Dov Hershkovitz, Dana Fuchs-Telem, Debora Rapaport, Andrea Gat, Gila Isman, Idit Shirazi, Mordechai Shohat, Claes D. Enk, Efrat Birk, Jürgen Kohlhase, Uta Matysiak-Scholze, Idit Maya, Carlos Knopf, Anette Peffekoven, Hans-Christian Hennies, Reuven Bergman, Mia Horowitz, Akemi Ishida-Yamamoto, Eli Sprecher

Am J Hum Genet. 2009 Aug 14; 85(2): 254–263. doi: 10.1016/j.ajhg.2009.07.001

PMCID:: PMC2725231

Article PDF–1.2M

Select item 270374213.

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Heather C. Mefford, Andrew J. Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Karen Buysse, Shuwen Huang, Viv K. Maloney, John A. Crolla, Diana Baralle, Amanda Collins, Catherine Mercer, Koen Norga, Thomy de Ravel, Koen Devriendt, Ernie M.H.F. Bongers, Nicole de Leeuw, William Reardon, Stefania Gimelli, Frederique Bena, Raoul C. Hennekam, Alison Male, Lorraine Gaunt, Jill Clayton-Smith, Ingrid Simonic, Soo Mi Park, Sarju G. Mehta, Serena Nik-Zainal, C. Geoffrey Woods, Helen V. Firth, Georgina Parkin, Marco Fichera, Santina Reitano, Mariangela Lo Giudice, Kelly E. Li, Iris Casuga, Adam Broomer, Bernard Conrad, Markus Schwerzmann, Lorenz Räber, Sabina Gallati, Pasquale Striano, Antonietta Coppola, John L. Tolmie, Edward S. Tobias, Chris Lilley, Lluis Armengol, Yves Spysschaert, Patrick Verloo, Anja De Coene, Linde Goossens, Geert Mortier, Frank Speleman, Ellen van Binsbergen, Marcel R. Nelen, Ron Hochstenbach, Martin Poot, Louise Gallagher, Michael Gill, Jon McClellan, Mary-Claire King, Regina Regan, Cindy Skinner, Roger E. Stevenson, Stylianos E. Antonarakis, Caifu Chen, Xavier Estivill, Björn Menten, Giorgio Gimelli, Susan Gribble, Stuart Schwartz, James S. Sutcliffe, Tom Walsh, Samantha J.L. Knight, Jonathan Sebat, Corrado Romano, Charles E. Schwartz, Joris A. Veltman, Bert B.A. de Vries, Joris R. Vermeesch, John C.K. Barber, Lionel Willatt, May Tassabehji, Evan E. Eichler

N Engl J Med. Author manuscript; available in PMC 2009 Jun 30.

Published in final edited form as: N Engl J Med. 2008 Oct 16; 359(16): 1685–1699. Published online 2008 Sep 10. doi: 10.1056/NEJMoa0805384

PMCID:: PMC2703742

Article PDF–1.0M

Select item 256323914.

Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene

Z Szabo, M W Crepeau, A L Mitchell, M J Stephan, R A Puntel, K Yin Loke, R C Kirk, Z Urban

J Med Genet. 2006 Mar; 43(3): 255–258. Published online 2005 Aug 5. doi: 10.1136/jmg.2005.034157

Correction in:: J Med Genet. 1993 Jun; 30(6): 528.

PMCID:: PMC2563239

Article PDF–1.1M

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