PMC Articles for MedGen (Select 482768) - PMC

Select item 106827001.

Case Report: Diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome with diabetic gastroparesis

Sixu Xin, Xiaomei Zhang

Front Endocrinol (Lausanne) 2023; 14: 1205431. Published online 2023 Nov 14. doi: 10.3389/fendo.2023.1205431

PMCID:: PMC10682700

Select item 101764192.

Recurrent 17q12 microduplications contribute to renal disease but not diabetes

Stuart Cannon, Rhian Clissold, Kittiya Sukcharoen, Marcus Tuke, Gareth Hawkes, Robin N Beaumont, Andrew R Wood, Mark Gilchrist, Andrew T Hattersley, Richard A Oram, Kashyap Patel, Caroline Wright, Michael N Weedon

J Med Genet. 2023 May; 60(5): 491–497. Published online 2022 Sep 15. doi: 10.1136/jmg-2022-108615

PMCID:: PMC10176419

Article PDF–766K

Select item 100746703.

Identification of 17q12 microdeletion syndrome in a Latin American patient with maturity-onset diabetes of the young subtype 5: a case report

Guillermo Edinson Guzmán, Ithzayana Madariaga, Carlos Julio Vargas, Laura Ballen Galeano, Maria Angélica Guerra, Jose Antonio Nastasi

J Med Case Rep. 2023; 17: 152. Published online 2023 Apr 5. doi: 10.1186/s13256-023-03873-6

PMCID:: PMC10074670

Article PDF–1.1M

Select item 67344894.

Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B

Howard J. Li, Catherine Groden, Melanie P. Hoenig, Evan C. Ray, Carlos R. Ferreira, Willam Gahl, Danica Novacic

BMC Nephrol. 2019; 20: 353. Published online 2019 Sep 9. doi: 10.1186/s12882-019-1533-5

PMCID:: PMC6734489

Article PDF–1010K

Select item 66683435.

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Miguel Verbitsky, Rik Westland, Alejandra Perez, Krzysztof Kiryluk, Qingxue Liu, Priya Krithivasan, Adele Mitrotti, David A. Fasel, Ekaterina Batourina, Matthew G. Sampson, Monica Bodria, Max Werth, Charlly Kao, Jeremiah Martino, Valentina P. Capone, Asaf Vivante, Shirlee Shril, Byum Hee Kil, Maddalena Marasa, Jun Y. Zhang, Young-Ji Na, Tze Y. Lim, Dina Ahram, Patricia L. Weng, Erin L. Heinzen, Alba Carrea, Giorgio Piaggio, Loreto Gesualdo, Valeria Manca, Giuseppe Masnata, Maddalena Gigante, Daniele Cusi, Claudia Izzi, Francesco Scolari, Joanna A.E. van Wijk, Marijan Saraga, Domenico Santoro, Giovanni Conti, Pasquale Zamboli, Hope White, Dorota Drozdz, Katarzyna Zachwieja, Monika Miklaszewska, Marcin Tkaczyk, Daria Tomczyk, Anna Krakowska, Przemyslaw Sikora, Tomasz Jarmoliński, Maria K. Borszewska-Kornacka, Robert Pawluch, Maria Szczepanska, Piotr Adamczyk, Malgorzata Mizerska-Wasiak, Grazyna Krzemien, Agnieszka Szmigielska, Marcin Zaniew, Mark G. Dobson, John M. Darlow, Prem Puri, David E. Barton, Susan L. Furth, Bradley A. Warady, Zoran Gucev, Vladimir J. Lozanovski, Velibor Tasic, Isabella Pisani, Landino Allegri, Lida M. Rodas, Josep M. Campistol, Cécile Jeanpierre, Shumyle Alam, Pasquale Casale, Craig S. Wong, Fangming Lin, Débora M. Miranda, Eduardo A. Oliveira, Ana Cristina Simões-e-Silva, Jonathan M. Barasch, Brynn Levy, Nan Wu, Friedhelm Hildebrandt, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna Materna-Kiryluk, Feng Zhang, Hakon Hakonarson, Virginia E. Papaioannou, Cathy L. Mendelsohn, Ali G. Gharavi, Simone Sanna-Cherchi

Nat Genet. Author manuscript; available in PMC 2019 Jul 31.

Published in final edited form as: Nat Genet. 2019 Jan; 51(1): 117–127. Published online 2018 Dec 21. doi: 10.1038/s41588-018-0281-y

PMCID:: PMC6668343

Article PDF–952K

Select item 63899446.

Genetic risk for schizophrenia and developmental delay is associated with shape and microstructure of midline white-matter structures

Mark Drakesmith, Greg D. Parker, Jacqueline Smith, Stefanie C. Linden, Elliott Rees, Nigel Williams, Michael J. Owen, Marianne van den Bree, Jeremy Hall, Derek K. Jones, David E. J. Linden

Transl Psychiatry. 2019; 9: 102. Published online 2019 Feb 25. doi: 10.1038/s41398-019-0440-7

PMCID:: PMC6389944

Article PDF–1.3M

Select item 62780427.

Effects of pathogenic CNVs on physical traits in participants of the UK Biobank

David Owen, Mathew Bracher-Smith, Kimberley M. Kendall, Elliott Rees, Mark Einon, Valentina Escott-Price, Michael J. Owen, Michael C. O’Donovan, George Kirov

BMC Genomics. 2018; 19: 867. Published online 2018 Dec 4. doi: 10.1186/s12864-018-5292-7

PMCID:: PMC6278042

Article PDF–997K

Select item 60191708.

An estimation of the prevalence of genomic disorders using chromosomal microarray data

M.A. Gillentine, P.J. Lupo, P. Stankiewicz, C.P. Schaaf

J Hum Genet. Author manuscript; available in PMC 2018 Oct 24.

Published in final edited form as: J Hum Genet. 2018 Jul; 63(7): 795–801. Published online 2018 Apr 24. doi: 10.1038/s10038-018-0451-x

PMCID:: PMC6019170

Article PDF–614K

Select item 45932029.

KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome

María Moreno-Igoa, Blanca Hernández-Charro, Amaya Bengoa-Alonso, Aranzazu Pérez-Juana-del-Casal, Carlos Romero-Ibarra, Beatriz Nieva-Echebarria, María Antonia Ramos-Arroyo

BMC Med Genet. 2015; 16: 68. Published online 2015 Aug 22. doi: 10.1186/s12881-015-0211-0

PMCID:: PMC4593202

Article PDF–1.1M

Select item 356726710.

Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder

Santhosh Girirajan, Megan Y. Dennis, Carl Baker, Maika Malig, Bradley P. Coe, Catarina D. Campbell, Kenneth Mark, Tiffany H. Vu, Can Alkan, Ze Cheng, Leslie G. Biesecker, Raphael Bernier, Evan E. Eichler

Am J Hum Genet. 2013 Feb 7; 92(2): 221–237. doi: 10.1016/j.ajhg.2012.12.016

PMCID:: PMC3567267

Article PDF–953K

Select item 341273911.

A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy

Bernward Hinkes, Karl F Hilgers, Hanno J Bolz, Margarete Goppelt-Struebe, Kerstin Amann, Sandra Nagl, Carsten Bergmann, Wolfgang Rascher, Kai-Uwe Eckardt, Johannes Jacobi

BMC Nephrol. 2012; 13: 27. Published online 2012 May 14. doi: 10.1186/1471-2369-13-27

PMCID:: PMC3412739

Article PDF–1.9M

Select item 332236112.

High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia

Serena Nik-Zainal, Reiner Strick, Mekayla Storer, Ni Huang, Roland Rad, Lionel Willatt, Tomas Fitzgerald, Vicki Martin, Richard Sandford, Nigel P Carter, Andreas R Janecke, Stefan P Renner, Patricia G Oppelt, Peter Oppelt, Christine Schulze, Sara Brucker, Matthew Hurles, Matthias W Beckmann, Pamela L Strissel, Charles Shaw-Smith

J Med Genet. Author manuscript; available in PMC 2012 Apr 10.

Published in final edited form as: J Med Genet. 2011 Mar; 48(3): 197–204. Published online 2011 Jan 28. doi: 10.1136/jmg.2010.082412

PMCID:: PMC3322361

Article PDF–1.2M

Select item 331567513.

Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia

Detelina Grozeva, Donald F. Conrad, Chris P. Barnes, Matthew Hurles, Michael J. Owen, Michael C. O'Donovan, Nick Craddock, George Kirov, WTCCC

Schizophr Res. 2012 Mar; 135(1-3): 1–7. doi: 10.1016/j.schres.2011.11.004

PMCID:: PMC3315675

Article

Select item 298722414.

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

Sandesh Chakravarthy Sreenath Nagamani, Ayelet Erez, Joseph Shen, Chumei Li, Elizabeth Roeder, Sarah Cox, Lefkothea Karaviti, Margret Pearson, Sung-Hae L Kang, Trilochan Sahoo, Seema R Lalani, Pawel Stankiewicz, V Reid Sutton, Sau Wai Cheung

Eur J Hum Genet. 2010 Mar; 18(3): 278–284. Published online 2009 Oct 21. doi: 10.1038/ejhg.2009.174

PMCID:: PMC2987224

Article PDF–601K

Select item 277785615.

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports

Laura Bernardini, Stefania Gimelli, Cristina Gervasini, Massimo Carella, Anwar Baban, Giada Frontino, Giancarlo Barbano, Maria Teresa Divizia, Luigi Fedele, Antonio Novelli, Frédérique Béna, Faustina Lalatta, Monica Miozzo, Bruno Dallapiccola

Orphanet J Rare Dis. 2009; 4: 25. Published online 2009 Nov 4. doi: 10.1186/1750-1172-4-25

PMCID:: PMC2777856

Article PDF–1.3M

Select item 236315616.

Chromosomal aberrations in human hepatocellular carcinomas associated with hepatitis C virus infection detected by comparative genomic hybridization

C Sakakura, A Hagiwara, H Taniguchi, T Yamaguchi, H Yamagishi, T Takahashi, K Koyama, Y Nakamura, T Abe, J Inazawa

Br J Cancer. 1999 Aug; 80(12): 2034–2039. doi: 10.1038/sj.bjc.6690638

PMCID:: PMC2363156

Summary PDF–167K

Select item 226566317.

Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy

Heather C. Mefford, Séverine Clauin, Andrew J. Sharp, Rikke S. Moller, Reinhard Ullmann, Raj Kapur, Dan Pinkel, Gregory M. Cooper, Mario Ventura, H. Hilger Ropers, Niels Tommerup, Evan E. Eichler, Christine Bellanne-Chantelot

Am J Hum Genet. 2007 Nov; 81(5): 1057–1069. Published online 2007 Sep 26. doi: 10.1086/522591

PMCID:: PMC2265663

Article PDF–1.2M

Select item 191827818.

A Common Region of Deletion on Chromosome 17q in Both Sporadic and Familial Epithelial Ovarian Tumors Distal to BRCA1

Andrew K. Godwin, Lisa Vanderveer, David C. Schultz, Henry T. Lynch, Deborah A. Altomare, Kenneth H. Buetow, Mary Daly, Lori A. Getts, Agnes Masny, Norman Rosenblum, Michael Hogan, Robert F. Ozols, Thomas C. Hamilton

Am J Hum Genet. 1994 Oct; 55(4): 666–677.

PMCID:: PMC1918278

Summary Page Browse PDF–2.0M

Select item 187682919.

Amplification and Deletion of Topoisomerase IIα Associate with ErbB-2 Amplification and Affect Sensitivity to Topoisomerase II Inhibitor Doxorubicin in Breast Cancer

Tero A. H. Järvinen, Minna Tanner, Virpi Rantanen, Maarit Bärlund, Åke Borg, Seija Grénman, Jorma Isola

Am J Pathol. 2000 Mar; 156(3): 839–847. doi: 10.1016/s0002-9440(10)64952-8

PMCID:: PMC1876829

Article PDF–785K

Select item 4152220.

The human plakoglobin gene localizes on chromosome 17q21 and is subjected to loss of heterozygosity in breast and ovarian cancers.

H Aberle, C Bierkamp, D Torchard, O Serova, T Wagner, E Natt, J Wirsching, C Heidkämper, M Montagna, H T Lynch, et al.

Proc Natl Acad Sci U S A. 1995 Jul 3; 92(14): 6384–6388. doi: 10.1073/pnas.92.14.6384

PMCID:: PMC41522

Summary Page Browse PDF–1.3M

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