PMC Links for Books (Select 1479608) - 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

Abstract Article PDF–776K

Select item 79654072.

Neuroradiologic Features in X-linked α-Thalassemia/Mental Retardation Syndrome

T. Wada, H. Ban, M. Matsufuji, N. Okamoto, K. Enomoto, K. Kurosawa, N. Aida

AJNR Am J Neuroradiol. 2013 Oct; 34(10): 2034–2038. doi: 10.3174/ajnr.A3560

PMCID:: PMC7965407

Abstract Article PDF–701K

Select item 75218413.

Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma

Jianling Ji, Catherine Quindipan, David Parham, Lishuang Shen, David Ruble, Moiz Bootwalla, Dennis T. Maglinte, Xiaowu Gai, Sulagna C. Saitta, Jaclyn A. Biegel, Leo Mascarenhas

Am J Med Genet A. Author manuscript; available in PMC 2020 Sep 28.

Published in final edited form as: Am J Med Genet A. 2017 May; 173(5): 1390–1395. Published online 2017 Mar 28. doi: 10.1002/ajmg.a.38184

PMCID:: PMC7521841

Abstract Article PDF–957K

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 60579775.

Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients

Julien Masliah-Planchon, Dominique Lévy, Delphine Héron, Fabienne Giuliano, Catherine Badens, Paul Fréneaux, Louise Galmiche, Jean-Marc Guinebretierre, Cécile Cellier, Joshua J. Waterfall, Khadija Aït-Raïs, Gaëlle Pierron, Christophe Glorion, Isabelle Desguerre, Christine Soler, Anne Deville, Olivier Delattre, Jean Michon, Franck Bourdeaut

Eur J Hum Genet. 2018 Aug; 26(8): 1217–1221. Published online 2018 Apr 30. doi: 10.1038/s41431-018-0147-x

PMCID:: PMC6057977

Abstract Article PDF–800K

Select item 53452526.

Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome

Laila C. Schenkel, Kristin D. Kernohan, Arran McBride, Ditta Reina, Amanda Hodge, Peter J. Ainsworth, David I. Rodenhiser, Guillaume Pare, Nathalie G. Bérubé, Cindy Skinner, Kym M. Boycott, Charles Schwartz, Bekim Sadikovic

Epigenetics Chromatin. 2017; 10: 10. Published online 2017 Mar 10. doi: 10.1186/s13072-017-0118-4

PMCID:: PMC5345252

Abstract Article PDF–1.6M

Select item 48540107.

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

Michael J Friez, Susan Sklower Brooks, Roger E Stevenson, Michael Field, Monica J Basehore, Lesley C Adès, Courtney Sebold, Stephen McGee, Samantha Saxon, Cindy Skinner, Maria E Craig, Lucy Murray, Richard J Simensen, Ying Yzu Yap, Marie A Shaw, Alison Gardner, Mark Corbett, Raman Kumar, Matthias Bosshard, Barbara van Loon, Patrick S Tarpey, Fatima Abidi, Jozef Gecz, Charles E Schwartz

BMJ Open. 2016; 6(4): e009537. Published online 2016 Apr 29. doi: 10.1136/bmjopen-2015-009537

PMCID:: PMC4854010

Abstract Article PDF–1.2M

Select item 45447538.

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 45300119.

Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas

The Cancer Genome Atlas Research Network

N Engl J Med. Author manuscript; available in PMC 2015 Dec 25.

Published in final edited form as: N Engl J Med. 2015 Jun 25; 372(26): 2481–2498. Published online 2015 Jun 10. doi: 10.1056/NEJMoa1402121

PMCID:: PMC4530011

Abstract Article PDF–1.4M

Select item 409682710.

Recurrent Somatic Structural Variations Contribute to Tumorigenesis in Pediatric Osteosarcoma

Xiang Chen, Armita Bahrami, Alberto Pappo, John Easton, James Dalton, Erin Hedlund, David Ellison, Sheila Shurtleff, Gang Wu, Lei Wei, Matthew Parker, Michael Rusch, Panduka Nagahawatti, Jianrong Wu, Shenghua Mao, Kristy Boggs, Heather Mulder, Donald Yergeau, Charles Lu, Li Ding, Michael Edmonson, Chunxu Qu, Jianmin Wang, Yongjin Li, Fariba Navid, Najat Daw, Elaine R. Mardis, Richard K. Wilson, James R. Downing, Jinghui Zhang, Michael A. Dyer

Cell Rep. Author manuscript; available in PMC 2014 Jul 15.

Published in final edited form as: Cell Rep. 2014 Apr 10; 7(1): 104–112. Published online 2014 Apr 3. doi: 10.1016/j.celrep.2014.03.003

PMCID:: PMC4096827

Abstract Article PDF–1.7M

Select item 221357611.

Loss of ATRX leads to chromosome cohesion and congression defects

Kieran Ritchie, Claudia Seah, Jana Moulin, Christian Isaac, Frederick Dick, Nathalie G. Bérubé

J Cell Biol. 2008 Jan 28; 180(2): 315–324. doi: 10.1083/jcb.200706083

PMCID:: PMC2213576

Abstract Article PDF–2.7M

Select item 192457512.

Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX

Anthony Argentaro, Ji-Chun Yang, Lynda Chapman, Monika S. Kowalczyk, Richard J. Gibbons, Douglas R. Higgs, David Neuhaus, Daniela Rhodes

Proc Natl Acad Sci U S A. 2007 Jul 17; 104(29): 11939–11944. Published online 2007 Jul 3. doi: 10.1073/pnas.0704057104

PMCID:: PMC1924575

Abstract Article PDF–866K

Select item 179699713.

Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation

Xinsheng Nan, Jianghui Hou, Alan Maclean, Jamal Nasir, Maria Jose Lafuente, Xinhua Shu, Skirmantas Kriaucionis, Adrian Bird

Proc Natl Acad Sci U S A. 2007 Feb 20; 104(8): 2709–2714. Published online 2007 Feb 12. doi: 10.1073/pnas.0608056104

PMCID:: PMC1796997

Abstract Article PDF–975K

Select item 173433114.

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome

L. Villard, M. Bonino, F. Abidi, A. Ragusa, J. Belougne, A. Lossi, L. Seaver, J. Bonnefont, C. Romano, M. Fichera, D. Lacombe, A. Hanauer, N. Philip, C. Schwartz, M. Fontes

J Med Genet. 1999 Mar; 36(3): 183–186.

PMCID:: PMC1734331

Summary PDF–137K

Select item 137795415.

Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.

A M Lossi, J M Millán, L Villard, C Orellana, C Cardoso, F Prieto, M Fontés, F Martínez

Am J Hum Genet. 1999 Aug; 65(2): 558–562. doi: 10.1086/302499

PMCID:: PMC1377954

Summary PDF–896K

Select item 19685616.

The ATRX syndrome protein forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodies

Yutong Xue, Richard Gibbons, Zhijiang Yan, Dafeng Yang, Tarra L. McDowell, Salvatore Sechi, Jun Qin, Sharleen Zhou, Doug Higgs, Weidong Wang

Proc Natl Acad Sci U S A. 2003 Sep 16; 100(19): 10635–10640. Published online 2003 Sep 2. doi: 10.1073/pnas.1937626100

PMCID:: PMC196856

Abstract Article PDF–468K

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