PMC Articles for MedGen (Select 98145) - PMC

Shruti Lal, Mahsa Zarei, Saswati N. Chand, Emanuela Dylgjeri, Nicole C. Mambelli-Lisboa, Michael J. Pishvaian, Charles J. Yeo, Jordan M. Winter, Jonathan R. Brody

Sci Rep. 2016; 6: 33323. Published online 2016 Sep 12. doi: 10.1038/srep33323

PMCID:: PMC5018859

Abstract Article PDF–1.9M

Select item 54413015.

Activation of STING-Dependent Innate Immune Signaling By S-Phase-Specific DNA Damage in Breast Cancer

Eileen E. Parkes, Steven M. Walker, Laura E. Taggart, Nuala McCabe, Laura A. Knight, Richard Wilkinson, Karen D. McCloskey, Niamh E. Buckley, Kienan I. Savage, Manuel Salto-Tellez, Stephen McQuaid, Mary T. Harte, Paul B. Mullan, D. Paul Harkin, Richard D. Kennedy

J Natl Cancer Inst. 2017 Jan; 109(1): djw199. Published online 2016 Oct 5. doi: 10.1093/jnci/djw199

PMCID:: PMC5441301

Abstract Article PDF–1.5M

Select item 77563826.

Impact of DNA damage repair defects and aggressive variant features on response to carboplatin‐based chemotherapy in metastatic castration‐resistant prostate cancer

Peter H. J. Slootbeek, Marleen L. Duizer, Maarten J. van der Doelen, Iris S. H. Kloots, Malou C. P. Kuppen, Hans M. Westgeest, Carin A. Uyl‐de Groot, Samhita Pamidimarri Naga, Marjolijn J. L. Ligtenberg, Inge M. van Oort, Winald R. Gerritsen, Jack A. Schalken, Leonie I. Kroeze, Haiko J. Bloemendal, Niven Mehra

Int J Cancer. 2021 Jan 15; 148(2): 385–395. Published online 2020 Oct 3. doi: 10.1002/ijc.33306

PMCID:: PMC7756382

Abstract Article PDF–823K

Select item 110810807.

Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision

Gloria Zaffaroni, Alessandro Mannucci, Laura Koskenvuo, Borja de Lacy, Anna Maffioli, Tanya Bisseling, Elizabeth Half, Giulia Martina Cavestro, Laura Valle, Neil Ryan, Stefan Aretz, Karen Brown, Francesco Buttitta, Fatima Carneiro, Oonagh Claber, Ruth Blanco-Colino, Maxime Collard, Emma Crosbie, Miguel Cunha, Triantafyllos Doulias, Christina Fleming, Henriette Heinrich, Robert Hüneburg, Julie Metras, Iris Nagtegaal, Ionut Negoi, Maartje Nielsen, Gianluca Pellino, Luigi Ricciardiello, Abdurrahman Sagir, Luis Sánchez-Guillén, Toni T Seppälä, Peter Siersema, Benedikt Striebeck, Julian R Sampson, Andrew Latchford, Yann Parc, John Burn, Gabriela Möslein

Br J Surg. 2024 May; 111(5): znae070. Published online 2024 May 9. doi: 10.1093/bjs/znae070

Correction in:: Br J Surg. 2024 Oct; 111(10): znae263.

PMCID:: PMC11081080

Abstract Article PDF–2.5M

Select item 113015688.

2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action

Luca Persani, Patrice Rodien, Carla Moran, W Edward Visser, Stefan Groeneweg, Robin Peeters, Samuel Refetoff, Mark Gurnell, Paolo Beck-Peccoz, Krishna Chatterjee

Eur Thyroid J. 2024 Aug 1; 13(4): e240125. Prepublished online 2024 Jul 4. Published online 2024 Aug 3. doi: 10.1530/ETJ-24-0125

PMCID:: PMC11301568

Abstract Article PDF–1.0M

Select item 111263789.

Dyssegmental dysplasia Rolland–Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients

Paniz Farshadyeganeh, Takahiro Yamada, Hirofumi Ohashi, Gen Nishimura, Hiroki Fujita, Yuriko Oishi, Misa Nunode, Shuku Ishikawa, Jun Murotsuki, Yuri Yamashita, Shiro Ikegawa, Tomoo Ogi, Eri Arikawa-Hirasawa, Kinji Ohno

J Hum Genet. 2024; 69(6): 235–244. Published online 2024 Feb 29. doi: 10.1038/s10038-024-01229-6

PMCID:: PMC11126378

Abstract Article PDF–2.1M

Select item 1106110310.

EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer

Trudi McDevitt, Miranda Durkie, Norbert Arnold, George J. Burghel, Samantha Butler, Kathleen B. M. Claes, Peter Logan, Rachel Robinson, Katie Sheils, Nicola Wolstenholme, Helen Hanson, Clare Turnbull, Stacey Hume

Eur J Hum Genet. 2024 May; 32(5): 479–488. Published online 2024 Mar 5. doi: 10.1038/s41431-023-01507-5

Correction in:: Eur J Hum Genet. 2024 Aug 2

PMCID:: PMC11061103

Abstract Article PDF–728K

Select item 1101998311.

Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases

Job A.J. Verdonschot, Debby M.E.I. Hellebrekers, Vanessa P.M. van Empel, Malou Heijligers, Sonja de Munnik, Edith Coonen, Jos C.M.F. Dreesen, Arthur van den Wijngaard, Han G. Brunner, Masoud Zamani Esteki, Stephane R.B. Heymans, Christine E.M. de Die-Smulders, Aimée D.C. Paulussen

Circ Genom Precis Med. 2024 Apr; 17(2): e004416. Published online 2024 Mar 22. doi: 10.1161/CIRCGEN.123.004416

PMCID:: PMC11019983

Abstract Article PDF–1.4M

Select item 1055624412.

Adherence to diabetes risk reduction diet and the risk of head and neck cancer: a prospective study of 101,755 American adults

Xia Wu, Linglong Peng, Haoyun Luo, Zhiquan Xu, Jijian Wang, Haitao Gu, Yaxu Wang, Yi Xiao, Chaohua Zhang, Ling Xiang

Front Nutr. 2023; 10: 1218632. Published online 2023 Sep 22. doi: 10.3389/fnut.2023.1218632

PMCID:: PMC10556244

Abstract Article PDF–1.4M

Select item 1013077413.

Spider diagram and sustainability evaluation of UV-methods strategy for quantification of aspirin and sildenafil citrate in the presence of salicylic acid in their bulk and formulation

Zahraa Kayali, Reem H. Obaydo, Amir Alhaj Sakur

Heliyon. 2023 Apr; 9(4): e15260. Published online 2023 Apr 5. doi: 10.1016/j.heliyon.2023.e15260

Correction in:: Heliyon. 2023 May; 9(5): e15876.

PMCID:: PMC10130774

Abstract Article PDF–3.7M

Select item 952885914.

Eco-friendly resolution of spectrally overlapping signals of a combined triple-action over-the-counter pharmaceutical formulation for symptomatic management of COVID-19 pandemic: application to content uniformity testing

Hoda M. Marzouk, Engy A. Ibrahim, Maha A. Hegazy, Samah S. Saad

BMC Chem. 2022 Dec; 16(1): 73. Published online 2022 Oct 3. doi: 10.1186/s13065-022-00868-0

PMCID:: PMC9528859

Abstract Article PDF–1.2M

Select item 654463815.

Comparative analysis of the transcriptomes of the calyx abscission zone of sweet orange insights into the huanglongbing-associated fruit abscission

Wei Zhao, Elizabeth A. Baldwin, Jinhe Bai, Anne Plotto, Mike Irey

Hortic Res. 2019; 6: 71. Published online 2019 Jun 1. doi: 10.1038/s41438-019-0152-4

PMCID:: PMC6544638

Abstract Article PDF–2.7M

Select item 1024922416.

Classical versus chemometrics tools for spectrophotometric determination of fluocinolone acetonide, ciprofloxacin HCl and ciprofloxacin impurity-A in their ternary mixture

Mahmoud A. Tantawy, Israa A. Wahba, Samah S. Saad, Nesrin K. Ramadan

BMC Chem. 2023 Dec; 17(1): 49. Published online 2023 Jun 7. doi: 10.1186/s13065-023-00963-w

PMCID:: PMC10249224

Abstract Article PDF–1.3M

Select item 576108417.

Determination of a novel ACE inhibitor in the presence of alkaline and oxidative degradation products using smart spectrophotometric and chemometric methods

Maha Abdel-Monem Hegazy, Maya Shaaban Eissa, Osama Ibrahim Abd El-Sattar, Mohamed Mohamed Abd El-Kawy

J Pharm Anal. 2014 Apr; 4(2): 132–143. Published online 2013 Oct 8. doi: 10.1016/j.jpha.2013.09.006

PMCID:: PMC5761084

Abstract Article PDF–1.5M

Select item 356490318.

Major soluble proteome changes in Deinococcus deserti over the earliest stages following gamma-ray irradiation

Alain Dedieu, Elodie Sahinovic, Philippe Guérin, Laurence Blanchard, Sylvain Fochesato, Bruno Meunier, Arjan de Groot, Jean Armengaud

Proteome Sci. 2013; 11: 3. Published online 2013 Jan 15. doi: 10.1186/1477-5956-11-3

PMCID:: PMC3564903

Abstract Article PDF–941K

Select item 1144805719.

A specific and ultrasensitive Cas12a/crRNA assay with recombinase polymerase amplification and lateral flow biosensor technology for the rapid detection of Streptococcus pyogenes

Yu Cheng, Jiawen Lyu, Jiangfeng Han, Long Feng, Xiangmei Li, Pei Li, Shanfeng Zhang, Wenqiao Zang

Microbiol Spectr. 2024 Oct; 12(10): e00345-24. Published online 2024 Sep 10. doi: 10.1128/spectrum.00345-24

PMCID:: PMC11448057

Abstract Article PDF–2.9M

Select item 1144797320.

Identification of a novel EYA4 likely pathogenic variant in a Chinese family with postlingual non-syndromic hearing loss and analysis of molecular epidemiology of EYA4 variants

Junfang Xue, Linyi Xie, Qiuchen Zheng, Fen Xiong, Xiedong Wu, Jialin Fan, Yang Zhang, Dayong Wang, Qiujing Zhang, Qiuju Wang

BMC Med Genomics. 2024; 17: 242. Published online 2024 Oct 3. doi: 10.1186/s12920-024-02010-6

PMCID:: PMC11447973

Abstract Article PDF–3.2M

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