PMC Links for Books (Select 3049396) - PMC

Select item 103344031.

Neurogenic Defects Occur in LRIG2-Associated Urinary Bladder Disease

Celine Grenier, Filipa M. Lopes, Anna M. Cueto-González, Eulàlia Rovira-Moreno, Romy Gander, Benjamin W. Jarvis, Karen D. McCloskey, Alison M. Gurney, Glenda M. Beaman, William G. Newman, Adrian S. Woolf, Neil A. Roberts

Kidney Int Rep. 2023 Jul; 8(7): 1417–1429. Published online 2023 Apr 30. doi: 10.1016/j.ekir.2023.04.017

PMCID:: PMC10334403

Abstract Article PDF–1.9M

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 92599703.

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder

Glenda M. Beaman, Filipa M. Lopes, Aybike Hofmann, Wolfgang Roesch, Martin Promm, Emilia K. Bijlsma, Chirag Patel, Aykut Akinci, Berk Burgu, Jeroen Knijnenburg, Gladys Ho, Christina Aufschlaeger, Sylvia Dathe, Marie Antoinette Voelckel, Monika Cohen, Wyatt W. Yue, Helen M. Stuart, Edward A. Mckenzie, Mark Elvin, Neil A. Roberts, Adrian S. Woolf, William G. Newman

Front Genet. 2022; 13: 896125. Published online 2022 Jun 23. doi: 10.3389/fgene.2022.896125

PMCID:: PMC9259970

Abstract Article PDF–3.3M

Select item 75696994.

Early B-cell Factor 3–Related Genetic Disease Can Mimic Urofacial Syndrome

J. Robert Harkness, Glenda M. Beaman, Keng W. Teik, Sangeet Sidhu, John A. Sayer, Heather J. Cordell, Huw B. Thomas, Katherine Wood, Helen M. Stuart, Adrian S. Woolf, William G. Newman

Kidney Int Rep. 2020 Oct; 5(10): 1823–1827. Published online 2020 Jul 14. doi: 10.1016/j.ekir.2020.07.001

PMCID:: PMC7569699

Article PDF–559K

Select item 74972895.

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 64812886.

Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder

Neil A. Roberts, Emma N. Hilton, Filipa M. Lopes, Subir Singh, Michael J. Randles, Natalie J. Gardiner, Karl Chopra, Riccardo Coletta, Zunera Bajwa, Robert J. Hall, Wyatt W. Yue, Franz Schaefer, Stefanie Weber, Roger Henriksson, Helen M. Stuart, Håkan Hedman, William G. Newman, Adrian S. Woolf

Kidney Int. 2019 May; 95(5): 1138–1152. doi: 10.1016/j.kint.2018.11.040

PMCID:: PMC6481288

Abstract Article

Select item 56684277.

Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux

John M. Darlow, Rebecca Darlay, Mark G. Dobson, Aisling Stewart, Pimphen Charoen, Jennifer Southgate, Simon C. Baker, Yaobo Xu, Manuela Hunziker, Heather J. Lambert, Andrew J. Green, Mauro Santibanez-Koref, John A. Sayer, Timothy H. J. Goodship, Prem Puri, Adrian S. Woolf, Rajko B. Kenda, David E. Barton, Heather J. Cordell

Sci Rep. 2017; 7: 14595. Published online 2017 Nov 3. doi: 10.1038/s41598-017-15062-9

Correction in:: Sci Rep. 2018; 8: 459.

PMCID:: PMC5668427

Abstract Article PDF–2.6M

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 45382159.

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

Julie Gauthier, Bouchra Ouled Amar Bencheikh, Fadi F Hamdan, Steven M Harrison, Linda A Baker, Françoise Couture, Isabelle Thiffault, Reda Ouazzani, Mark E Samuels, Grant A Mitchell, Guy A Rouleau, Jacques L Michaud, Jean- François Soucy

Eur J Hum Genet. 2015 Sep; 23(9): 1266–1268. Published online 2014 Nov 19. doi: 10.1038/ejhg.2014.256

PMCID:: PMC4538215

Abstract Article PDF–485K

Select item 437809210.

Urinary Tract Effects of HPSE2 Mutations

Helen M. Stuart, Neil A. Roberts, Emma N. Hilton, Edward A. McKenzie, Sarah B. Daly, Kristen D. Hadfield, Jeffery S. Rahal, Natalie J. Gardiner, Simon W. Tanley, Malcolm A. Lewis, Emily Sites, Brad Angle, Cláudia Alves, Teresa Lourenço, Márcia Rodrigues, Angelina Calado, Marta Amado, Nancy Guerreiro, Inês Serras, Christian Beetz, Rita-Eva Varga, Mesrur Selcuk Silay, John M. Darlow, Mark G. Dobson, David E. Barton, Manuela Hunziker, Prem Puri, Sally A. Feather, Judith A. Goodship, Timothy H.J. Goodship, Heather J. Lambert, Heather J. Cordell, the UK VUR Study Group, Anand Saggar, Maria Kinali, the 4C Study Group, Christian Lorenz, Kristina Moeller, Franz Schaefer, Aysun K. Bayazit, Stefanie Weber, William G. Newman, Adrian S. Woolf

J Am Soc Nephrol. 2015 Apr; 26(4): 797–804. Published online 2014 Aug 21. doi: 10.1681/ASN.2013090961

PMCID:: PMC4378092

Abstract Article

Select item 410367711.

Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus

Neil A. Roberts, Adrian S. Woolf, Helen M. Stuart, Raphaël Thuret, Edward A. McKenzie, William G. Newman, Emma N. Hilton

Hum Mol Genet. 2014 Aug 15; 23(16): 4302–4314. Published online 2014 Apr 1. doi: 10.1093/hmg/ddu147

PMCID:: PMC4103677

Abstract Article PDF–2.2M

Select item 357375712.

De Novo ACTA2 Mutation Causes a Novel Syndrome of Multisystemic Smooth Muscle Dysfunction

Dianna M. Milewicz, John R. Østergaard, Leena M. Ala-Kokko, Nadia Khan, Dorothy K. Grange, Roberto Mendoza-Londono, Timothy J. Bradley, Ann Haskins Olney, Lesley Adès, Joseph F. Maher, Dongchuan Guo, L. Maximilian Buja, Dong Kim, James C. Hyland, Ellen S. Regalado

Am J Med Genet A. Author manuscript; available in PMC 2013 Feb 15.

Published in final edited form as: Am J Med Genet A. 2010 Oct; 152A(10): 2437–2443. doi: 10.1002/ajmg.a.33657

PMCID:: PMC3573757

Abstract Article PDF–883K

Select item 356726913.

LRIG2 Mutations Cause Urofacial Syndrome

Helen M. Stuart, Neil A. Roberts, Berk Burgu, Sarah B. Daly, Jill E. Urquhart, Sanjeev Bhaskar, Jonathan E. Dickerson, Murat Mermerkaya, Mesrur Selcuk Silay, Malcolm A. Lewis, M. Beatriz Orive Olondriz, Blanca Gener, Christian Beetz, Rita E. Varga, Ömer Gülpınar, Evren Süer, Tarkan Soygür, Zeynep B. Özçakar, Fatoş Yalçınkaya, Aslı Kavaz, Burcu Bulum, Adnan Gücük, Wyatt W. Yue, Firat Erdogan, Andrew Berry, Neil A. Hanley, Edward A. McKenzie, Emma N. Hilton, Adrian S. Woolf, William G. Newman

Am J Hum Genet. 2013 Feb 7; 92(2): 259–264. doi: 10.1016/j.ajhg.2012.12.002

PMCID:: PMC3567269

Abstract Article PDF–938K

Select item 315753914.

Exome Capture and Massively Parallel Sequencing Identifies a Novel HPSE2 Mutation in a Saudi Arabian Child with Ochoa (Urofacial) Syndrome

Wisam Al Badr, Suha Al Bader, Edgar Otto, Friedhelm Hildebrandt, Todd Ackley, Weiping Peng, Jishu Xu, Jun Li, Kailey M. Owens, David Bloom, Jeffrey W. Innis

J Pediatr Urol. Author manuscript; available in PMC 2012 Oct 1.

Published in final edited form as: J Pediatr Urol. 2011 Oct; 7(5): 569–573. Published online 2011 Mar 29. doi: 10.1016/j.jpurol.2011.02.034

PMCID:: PMC3157539

Abstract Article PDF–839K

Select item 303207815.

Mutations in HPSE2 Cause Urofacial Syndrome

Sarah B. Daly, Jill E. Urquhart, Emma Hilton, Edward A. McKenzie, Richard A. Kammerer, Malcolm Lewis, Bronwyn Kerr, Helen Stuart, Dian Donnai, David A. Long, Berk Burgu, Ozgu Aydogdu, Murat Derbent, Sixto Garcia-Minaur, Willie Reardon, Blanca Gener, Stavit Shalev, Rupert Smith, Adrian S. Woolf, Graeme C. Black, William G. Newman

Am J Hum Genet. 2010 Jun 11; 86(6): 963–969. doi: 10.1016/j.ajhg.2010.05.006

Correction in:: Am J Hum Genet. 2010 Aug 13; 87(2): 309.

PMCID:: PMC3032078

Abstract Article PDF–810K

Select item 303207416.

Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

Junfeng Pang, Shu Zhang, Ping Yang, Bobbilynn Hawkins-Lee, Jixin Zhong, Yushan Zhang, Bernardo Ochoa, Jose A.G. Agundez, Marie-Antoinette Voelckel, Weikuan Gu, Wen-Cheng Xiong, Lin Mei, Jin-Xiong She, Cong-Yi Wang

Am J Hum Genet. 2010 Jun 11; 86(6): 957–962. doi: 10.1016/j.ajhg.2010.04.016

Correction in:: Am J Hum Genet. 2010 Jul 9; 87(1): 161.

PMCID:: PMC3032074

Abstract Article PDF–513K

Select item 293466617.

Heparanase 2 Interacts with Heparan Sulfate with High Affinity and Inhibits Heparanase Activity

Flonia Levy-Adam, Sari Feld, Victoria Cohen-Kaplan, Anna Shteingauz, Miriam Gross, Gil Arvatz, Inna Naroditsky, Neta Ilan, Ilana Doweck, Israel Vlodavsky

J Biol Chem. 2010 Sep 3; 285(36): 28010–28019. Published online 2010 Jun 24. doi: 10.1074/jbc.M110.116384

PMCID:: PMC2934666

Abstract Article PDF–2.2M

Select item 275551118.

Heparanase: Busy at the cell surface

Liat Fux, Neta Ilan, Ralph D. Sanderson, Israel Vlodavsky

Trends Biochem Sci. Author manuscript; available in PMC 2010 Oct 1.

Published in final edited form as: Trends Biochem Sci. 2009 Oct; 34(10): 511–519. Published online 2009 Sep 3. doi: 10.1016/j.tibs.2009.06.005

PMCID:: PMC2755511

Abstract Article PDF–1.0M

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