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Select item 74468191.

RNA-seq analysis of gene expression profiles in isolated stria vascularis from wild-type and Alport mice reveals key pathways underling Alport strial pathogenesis

Brianna Dufek, Daniel T. Meehan, Duane Delimont, Kevin Wilhelm, Gina Samuelson, Ross Coenen, Jacob Madison, Edward Doyle, Brendan Smyth, Grady Phillips, Michael Anne Gratton, Dominic Cosgrove

PLoS One. 2020; 15(8): e0237907. Published online 2020 Aug 21. doi: 10.1371/journal.pone.0237907

PMCID:: PMC7446819

Abstract Article PDF–2.3M

Select item 102048992.

Efficacy and safety analysis of prucalopride in refractory chronic constipation cases in a tertiary care hospital in Eastern India: A randomized, single-blind, placebo-controlled study

Suhasini Dehury, Sourya Mohapatra, Haribhakti Seba Das, Siddhartha Goutam, Chetna Kaushik

Indian J Pharmacol. 2023 Jan-Feb; 55(1): 6–13. Published online 2023 Mar 20. doi: 10.4103/ijp.ijp_530_22

PMCID:: PMC10204899

Abstract Article

Select item 100880693.

Temperature-insensitive silicone composites as ballistic witness materials: the impact of water content on the thermophysical properties

Ran Tao, Fan Zhang, Huong Giang Nguyen, Philip Bernstein, Amanda L. Forster, Randy A. Mrozek, Aaron M. Forster

J Mater Sci. Author manuscript; available in PMC 2023 Apr 11.

Published in final edited form as: J Mater Sci. 2021; 56(29): 10.1007/s10853-021-06334-x. doi: 10.1007/s10853-021-06334-x

PMCID:: PMC10088069

Abstract Article PDF–1.1M

Select item 95370094.

Homozygous Autosomal Recessive DIAPH1 Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare Case

Hossein Esmaeilzadeh, Rafat Noeiaghdam, Leila Johari, Seyed Ali Hosseini, Sayyed Hesamedin Nabavizadeh, Soheila Sadat Alyasin

Case Rep Genet. 2022; 2022: 4142214. Published online 2022 Sep 29. doi: 10.1155/2022/4142214

PMCID:: PMC9537009

Abstract Article PDF–379K

Select item 89811085.

Late-onset hearing loss case associated with a heterozygous truncating variant of DIAPH1

Bong Jik Kim, Takushi Miyoshi, Taimur Chaudhry, Thomas B. Friedman, Byung Yoon Choi, Takehiko Ueyama

Clin Genet. Author manuscript; available in PMC 2023 Apr 1.

Published in final edited form as: Clin Genet. 2022 Apr; 101(4): 466–471. Published online 2022 Feb 2. doi: 10.1111/cge.14115

PMCID:: PMC8981108

Abstract Article PDF–780K

Select item 60029736.

Efficacy and safety of acupuncture for functional constipation: a randomised, sham-controlled pilot trial

Hye-Yoon Lee, Oh-Jin Kwon, Jung-Eun Kim, Mikyeong Kim, Ae-Ran Kim, Hyo-Ju Park, Jung-Hyo Cho, Joo-Hee Kim, Sun-Mi Choi

BMC Complement Altern Med. 2018; 18: 186. Published online 2018 Jun 15. doi: 10.1186/s12906-018-2243-4

PMCID:: PMC6002973

Abstract Article PDF–885K

Select item 49439777.

Efficacy and Safety of Prucalopride in Chronic Constipation: An Integrated Analysis of Six Randomized, Controlled Clinical Trials

Michael Camilleri, Hubert Piessevaux, Yan Yiannakou, Jan Tack, René Kerstens, Eamonn M. M. Quigley, MeiYun Ke, Susana Da Silva, Amy Levine

Dig Dis Sci. 2016; 61: 2357–2372. Published online 2016 Apr 7. doi: 10.1007/s10620-016-4147-9

PMCID:: PMC4943977

Abstract Article PDF–964K

Select item 44243768.

A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial to Evaluate the Efficacy, Safety, and Tolerability of Prucalopride in Men With Chronic Constipation

Yan Yiannakou, Hubert Piessevaux, Michel Bouchoucha, Ingolf Schiefke, Rafal Filip, Libor Gabalec, Ion Dina, David Stephenson, René Kerstens, Kevin Etherson, Amy Levine

Am J Gastroenterol. 2015 May; 110(5): 741–748. Published online 2015 Apr 14. doi: 10.1038/ajg.2015.115

PMCID:: PMC4424376

Abstract Article PDF–243K

Select item 42044049.

Effect of Prucalopride in the Treatment of Chronic Constipation in Asian and Non-Asian Women: A Pooled Analysis of 4 Randomized, Placebo-controlled Studies

MeiYun Ke, Jan Tack, Eamonn M M Quigley, Duowu Zou, Suck Chei Choi, Somchai Leelakusolvong, Andy Liu, JinYong Kim

J Neurogastroenterol Motil. 2014 Oct; 20(4): 458–468. doi: 10.5056/jnm14029

PMCID:: PMC4204404

Abstract Article PDF–524K

Select item 350936610.

Prucalopride in the treatment of chronic constipation in patients from the Asia-Pacific region: a randomized, double-blind, placebo-controlled study

M Ke, D Zou, Y Yuan, Y Li, L Lin, J Hao, X Hou, HJ Kim

Neurogastroenterol Motil. 2012 Nov; 24(11): 999–e541. Published online 2012 Oct 11. doi: 10.1111/j.1365-2982.2012.01983.x

PMCID:: PMC3509366

Abstract Article PDF–560K

Select item 1106263911.

Updates on Sturge-Weber Syndrome

SangEun Yeom, Anne M. Comi

Stroke. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Stroke. 2022 Dec; 53(12): 3769–3779. Published online 2022 Oct 20. doi: 10.1161/STROKEAHA.122.038585

PMCID:: PMC11062639

Abstract Article PDF–615K

Select item 1103672812.

Macular hypoplasia and high myopia in 48, xxyy syndrome: a unique case of 48, xxyy syndrome that presents with high myopia and macular dysplasia

Aohan Hou, Xinyu Liu, Limei Sun, Xiaoyan Ding

BMC Ophthalmol. 2024; 24: 186. Published online 2024 Apr 23. doi: 10.1186/s12886-024-03456-z

PMCID:: PMC11036728

Abstract Article PDF–1.4M

Select item 1099453313.

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stephanie Efthymiou, Ehsan Ghayoor Karimiani, Maja Hempel, Elizabeth A Normand, Sabine Rudnik-Schöneborn, Ulrich A Schatz, Marc P Baggelaar, Muhammad Ilyas, Tipu Sultan, Javeria Raza Alvi, Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Husna Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Peter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A Abdul-Majeed, Maria Imdad, Maksudjon Isrofilov, Qassem Kaiyal, Suliman Khan, Brian Kirmse, Janet Koster, Charles Marques Lourenço, Tadahiro Mitani, Oana Moldovan, David Murphy, Maryam Najafi, Davut Pehlivan, Maria Eugenia Rocha, Vincenzo Salpietro, Miriam Schmidts, Adel Shalata, Mohammad Mahroum, Jawabreh Kassem Talbeya, Robert W Taylor, Dayana Vazquez, Annalisa Vetro, Hans R Waterham, Mashaya Zaman, Tina A Schrader, Wendy K Chung, Renzo Guerrini, James R Lupski, Joseph Gleeson, Mohnish Suri, Yalda Jamshidi, Kailash P Bhatia, Barbara Vona, Michael Schrader, Mariasavina Severino, Matthew Guille, Edward W Tate, Gaurav K Varshney, Henry Houlden, Reza Maroofian

Brain. 2024 Apr; 147(4): 1436–1456. Published online 2023 Nov 10. doi: 10.1093/brain/awad380

PMCID:: PMC10994533

Abstract Article PDF–2.1M

Select item 1093851414.

Impact of Early Intervention with Triiodothyroacetic Acid on Peripheral and Neurodevelopmental Findings in a Boy with MCT8 Deficiency

Yağmur Ünsal, Gamze Hayran

J Clin Res Pediatr Endocrinol. 2024 Mar; 16(1): 116–122. Published online 2024 Mar 11. doi: 10.4274/jcrpe.galenos.2023.2023-10-1

PMCID:: PMC10938514

Abstract Article PDF–426K

Select item 1093577315.

COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum

Omid Hesami, Mahtab Ramezani, Aida Ghasemi, Farzad Fatehi, Ali Asghar Okhovat, Bentolhoda Ziaadini, Ariana Kariminejad, Shahriar Nafissi

Orphanet J Rare Dis. 2024; 19: 113. Published online 2024 Mar 12. doi: 10.1186/s13023-024-03116-x

PMCID:: PMC10935773

Abstract Article PDF–1.9M

Select item 1091077016.

Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report

Ameya S. Walimbe, Keren Machol, Stephen F. Kralik, Elizabeth A. Mizerik, Yoel Gofin, Mir Reza Bekheirnia, Charul Gijavanekar, Sarah H. Elsea, Lisa T. Emrick, Fernando Scaglia

BMC Neurol. 2024; 24: 87. Published online 2024 Mar 4. doi: 10.1186/s12883-024-03571-w

PMCID:: PMC10910770

Abstract Article PDF–1.5M

Select item 1088020017.

The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects

Amanda Nagy, Francine Molay, Sarah Hargadon, Claudia Brito Pires, Natalie Grant, Lizbeth De La Rosa Abreu, Jin Yun Chen, Precilla D’Souza, Ellen Macnamara, Cynthia Tifft, Catherine Becker, Claudio Melo De Gusmao, Vikram Khurana, Ann M. Neumeyer, Florian S. Eichler

Orphanet J Rare Dis. 2024; 19: 79. Published online 2024 Feb 20. doi: 10.1186/s13023-024-03083-3

PMCID:: PMC10880200

Abstract Article PDF–1.0M

Select item 1086492618.

Antenatal description of large 4q13.2q21.23 deletion and outcomes

Anna‐Gaëlle Giguet‐Valard, Christelle Thevenin, Sophie Dreux, Valérie Decatrelle, Marie‐Laure Juve, Soraya Yazza, Clara Adenet, Marion Lesueur, Patrice Bouvagnet, Michèle Gueneret

Mol Genet Genomic Med. 2024 Feb; 12(2): e2397. Published online 2024 Feb 13. doi: 10.1002/mgg3.2397

PMCID:: PMC10864926

Abstract Article PDF–769K

Select item 1085094819.

Combined Immunotherapy Improves Outcome for Replication-Repair-Deficient (RRD) High-Grade Glioma Failing Anti–PD-1 Monotherapy: A Report from the International RRD Consortium

Anirban Das, Nicholas R. Fernandez, Adrian Levine, Vanessa Bianchi, Lucie K. Stengs, Jiil Chung, Logine Negm, Jose Rafael Dimayacyac, Yuan Chang, Liana Nobre, Ayse B. Ercan, Santiago Sanchez-Ramirez, Sumedha Sudhaman, Melissa Edwards, Valerie Larouche, David Samuel, An Van Damme, David Gass, David S. Ziegler, Stefan S. Bielack, Carl Koschmann, Shayna Zelcer, Michal Yalon-Oren, Gadi Abede Campino, Tomasz Sarosiek, Kim E. Nichols, Rebecca Loret De Mola, Kevin Bielamowicz, Magnus Sabel, Charlotta A. Frojd, Matthew D. Wood, Jason M. Glover, Yi-Yen Lee, Magimairajan Vanan, Jenny K. Adamski, Sebastien Perreault, Omar Chamdine, Magnus Aasved Hjort, Michal Zapotocky, Fernando Carceller, Erin Wright, Ivana Fedorakova, Alexander Lossos, Ryuma Tanaka, Michael Osborn, Deborah T. Blumenthal, Melyssa Aronson, Ute Bartels, Annie Huang, Vijay Ramaswamy, David Malkin, Adam Shlien, Anita Villani, Peter B. Dirks, Trevor J. Pugh, Gad Getz, Yosef E. Maruvka, Derek S. Tsang, Birgit Ertl-Wagner, Cynthia Hawkins, Eric Bouffet, Daniel A. Morgenstern, Uri Tabori

Cancer Discov. 2024 Feb 8; 14(2): 258–273. Published online 2023 Oct 12. doi: 10.1158/2159-8290.CD-23-0559

PMCID:: PMC10850948

Abstract Article PDF–17M

Select item 1084016420.

Pro-inflammatory feedback loops define immune responses to pathogenic Lentivirus infection

Aaron J. Wilk, Joshua O. Marceau, Samuel W. Kazer, Ira Fleming, Vincent N. Miao, Jennyfer Galvez-Reyes, Jason T. Kimata, Alex K. Shalek, Susan Holmes, Julie Overbaugh, Catherine A. Blish

Genome Med. 2024; 16: 24. Published online 2024 Feb 5. doi: 10.1186/s13073-024-01290-y

PMCID:: PMC10840164

Abstract Article PDF–2.6M

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