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Select item 60545341.

ERS Task Force guideline for the diagnosis of primary ciliary dyskinesia

JS Lucas, A Barbato, SA Collins, M Goutaki, L Behan, D Caudri, S Dell, E Eber, E Escudier, RA Hirst, C Hogg, M Jorissen, P Latzin, M Legendre, MW Leigh, F Midulla, KG Nielsen, H Omran, JF Papon, P Pohunek, B Redfern, D Rigau, B Rindlisbacher, F Santamaria, A Shoemark, D Snijders, T Tonia, A Titieni, WT Walker, C Werner, A Bush, CE Kuehni

Eur Respir J. Author manuscript; available in PMC 2018 Jul 20.

Published in final edited form as: Eur Respir J. 2017 Jan; 49(1): 1601090. Published online 2017 Jan 4. doi: 10.1183/13993003.01090-2016

PMCID:: PMC6054534

Abstract Article PDF–932K

Select item 40326422.

Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times

Alex Habel, Richard Herriot, Dinakantha Kumararatne, Jeremy Allgrove, Kate Baker, Helen Baxendale, Frances Bu’Lock, Helen Firth, Andrew Gennery, Anthony Holland, Claire Illingworth, Nigel Mercer, Merel Pannebakker, Andrew Parry, Anne Roberts, Beverly Tsai-Goodman

Eur J Pediatr. 2014; 173(6): 757–765. Published online 2014 Jan 3. doi: 10.1007/s00431-013-2240-z

PMCID:: PMC4032642

Abstract Article PDF–460K

Select item 112510543.

Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center

Huili Xue, Aili Yu, Lingji Chen, Qun Guo, Lin Zhang, Na lin, Xuemei Chen, Liangpu Xu, Hailong Huang

Sci Rep. 2024; 14: 16266. Published online 2024 Jul 15. doi: 10.1038/s41598-024-67164-w

PMCID:: PMC11251054

Abstract Article PDF–2.0M

Select item 112433824.

High-Fat Diet Augments Myocardial Inflammation and Cardiac Dysfunction in Arrhythmogenic Cardiomyopathy

Ann M. Centner, Emily A. Shiel, Waleed Farra, Elisa N. Cannon, Maicon Landim-Vieira, Gloria Salazar, Stephen P. Chelko

Nutrients. 2024 Jul; 16(13): 2087. Published online 2024 Jun 29. doi: 10.3390/nu16132087

PMCID:: PMC11243382

Abstract Article PDF–3.2M

Select item 112432865.

Association of Maternal Dietary Habits and Infant MTHFR Gene Polymorphisms with Ventricular Septal Defect in Offspring: A Case–Control Study

Xiaorui Ruan, Ziye Li, Taowei Zhong, Ridan Lei, Manjun Luo, Mengting Sun, Jiabi Qin

Nutrients. 2024 Jul; 16(13): 2005. Published online 2024 Jun 24. doi: 10.3390/nu16132005

PMCID:: PMC11243286

Abstract Article PDF–1.7M

Select item 112423196.

Coding and Non-Coding Transcriptomic Landscape of Aortic Complications in Marfan Syndrome

Nathasha Samali Udugampolage, Svetlana Frolova, Jacopo Taurino, Alessandro Pini, Fabio Martelli, Christine Voellenkle

Int J Mol Sci. 2024 Jul; 25(13): 7367. Published online 2024 Jul 5. doi: 10.3390/ijms25137367

PMCID:: PMC11242319

Abstract Article PDF–1.6M

Select item 112423077.

Altered Inflammatory State and Mitochondrial Function Identified by Transcriptomics in Paediatric Congenital Heart Patients Prior to Surgical Repair

Francesca Bartoli-Leonard, Amy G. Harris, Kelly Saunders, Julie Madden, Carrie Cherrington, Karen Sheehan, Mai Baquedano, Giulia Parolari, Andrew Bamber, Massimo Caputo

Int J Mol Sci. 2024 Jul; 25(13): 7487. Published online 2024 Jul 8. doi: 10.3390/ijms25137487

PMCID:: PMC11242307

Abstract Article PDF–8.2M

Select item 112383498.

Potential efficacy of digital polymerase chain reaction for non-invasive prenatal screening of autosomal aneuploidies: a systematic review and meta-analysis

Mohammadamin Parsaei, Mohadese Dashtkoohi, Tayyeb Ali Salmani, Mohammad Sadeq Najafi, Mohammad Haddadi, Marjan Ghaemi, Sedigheh Hantoushzadeh

BMC Pregnancy Childbirth. 2024; 24: 472. Published online 2024 Jul 11. doi: 10.1186/s12884-024-06655-0

PMCID:: PMC11238349

Abstract Article PDF–3.4M

Select item 112347769.

Trichohepatoenteric syndrome type 1: expanding the clinical spectrum of THES type 1 due to a homozygous variant in the SKIC3 gene

Abdullah Alrammal, Rashed Aljundi, Sedra Abu Ghedda, Buthaina Mustafa AlMurbati

BMC Pediatr. 2024; 24: 444. Published online 2024 Jul 10. doi: 10.1186/s12887-024-04924-7

PMCID:: PMC11234776

Abstract Article PDF–656K

Select item 1122941710.

Stage-specific regulation of DNA methylation by TET enzymes during human cardiac differentiation

Yahui Lan, Kelly M. Banks, Heng Pan, Nipun Verma, Gary R. Dixon, Ting Zhou, Bo Ding, Olivier Elemento, Shuibing Chen, Danwei Huangfu, Todd Evans

Cell Rep. Author manuscript; available in PMC 2024 Jul 8.

Published in final edited form as: Cell Rep. 2021 Dec 7; 37(10): 110095. doi: 10.1016/j.celrep.2021.110095

PMCID:: PMC11229417

Abstract Article PDF–3.1M

Select item 1122613911.

Transmural APD heterogeneity determines ventricular arrhythmogenesis in LQT8 syndrome: Insights from Bidomain computational modeling

Simone Scacchi, Luca F. Pavarino, Andrea Mazzanti, Alessandro Trancuccio, Silvia G. Priori, Piero Colli Franzone

PLoS One. 2024; 19(7): e0305248. Published online 2024 Jul 5. doi: 10.1371/journal.pone.0305248

PMCID:: PMC11226139

Abstract Article PDF–4.5M

Select item 1122548212.

Phenotypic and cytogenetic variability of patau syndrome in Morocco

Hanane Ait hammou, Mariam Sennaoui, Fatimazahra Bouzid, Kenza Dafir, Meriem El Qabli, Hassan Akallakh, Maria Mansouri, Fadl Mrabih Rabou Maoulainine, Mohammed Bouskraoui, Nisrine Aboussair

Afr Health Sci. 2023 Dec; 23(4): 575–581. doi: 10.4314/ahs.v23i4.60

PMCID:: PMC11225482

Abstract Article PDF–282K

Select item 1122426913.

SHP2 as a primordial epigenetic enzyme expunges histone H3 pTyr-54 to amend androgen receptor homeostasis

Surbhi Chouhan, Dhivya Sridaran, Cody Weimholt, Jingqin Luo, Tiandao Li, Myles C. Hodgson, Luana N. Santos, Samantha Le Sommer, Bin Fang, John M. Koomen, Markus Seeliger, Cheng-Kui Qu, Armelle Yart, Maria I. Kontaridis, Kiran Mahajan, Nupam P. Mahajan

Nat Commun. 2024; 15: 5629. Published online 2024 Jul 4. doi: 10.1038/s41467-024-49978-4

PMCID:: PMC11224269

Abstract Article PDF–2.1M

Select item 1122050114.

Targeted next‐generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation

Dongming Han, Ziwei Wang, Xuan Chen, Zijia Liu, Zhengtao Yang, Yixi Chen, Peiyi Tian, Jiankang Li, ZhuoShi Wang

Mol Genet Genomic Med. 2024 Jul; 12(7): e2482. Published online 2024 Jul 3. doi: 10.1002/mgg3.2482

PMCID:: PMC11220501

Abstract Article PDF–1.4M

Select item 1121998315.

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease

Kaitlin J. Stanley, Kelsey J. Kalbfleisch, Olivia M. Moran, Rajiv R. Chaturvedi, Maian Roifman, Xin Chen, Roozbeh Manshaei, Nicole Martin, Simina McDermott, Vanda McNiven, Diane Myles-Reid, Lynne E. Nield, Miriam S. Reuter, Marci L. B. Schwartz, Patrick Shannon, Rachel Silver, Cherith Somerville, Ronni Teitelbaum, Laura Zahavich, Anne S. Bassett, Raymond H. Kim, Seema Mital, David Chitayat, Rebekah K. Jobling

Eur J Hum Genet. 2024 Jul; 32(7): 795–803. Published online 2024 May 22. doi: 10.1038/s41431-024-01629-4

PMCID:: PMC11219983

Abstract Article PDF–3.5M

Select item 1121866016.

Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease

Feng Xiao, Xiaoran Zhang, Sarah U. Morton, Seong Won Kim, Youfei Fan, Joshua M. Gorham, Huan Zhang, Paul J. Berkson, Neil Mazumdar, Yangpo Cao, Jian Chen, Jacob Hagen, Xujie Liu, Pingzhu Zhou, Felix Richter, Yufeng Shen, Tarsha Ward, Bruce D. Gelb, Jonathan G. Seidman, Christine E. Seidman, William T. Pu

Nat Genet. Author manuscript; available in PMC 2024 Jul 2.

Published in final edited form as: Nat Genet. 2024 Mar; 56(3): 420–430. Published online 2024 Feb 20. doi: 10.1038/s41588-024-01669-y

PMCID:: PMC11218660

Abstract Article PDF–6.5M

Select item 1121728117.

The chromatin regulator Ankrd11 controls cardiac neural crest cell-mediated outflow tract remodeling and heart function

Yana Kibalnyk, Elia Afanasiev, Ronan M. N. Noble, Adrianne E. S. Watson, Irina Poverennaya, Nicole L. Dittmann, Maria Alexiou, Kara Goodkey, Amanda A. Greenwell, John R. Ussher, Igor Adameyko, James Massey, Daniel Graf, Stephane L. Bourque, Jo Anne Stratton, Anastassia Voronova

Nat Commun. 2024; 15: 4632. Published online 2024 Jul 1. doi: 10.1038/s41467-024-48955-1

PMCID:: PMC11217281

Abstract Article PDF–6.8M

Select item 1121569118.

Coexistence of type 2 diabetes mellitus, arginine vasopressin deficiency, and Marfan syndrome: A case report

Yunyi Le, Jingjing Zhang, Tianpei Hong, Jin Yang

J Diabetes Investig. 2024 Jul; 15(7): 964–967. Published online 2024 Mar 2. doi: 10.1111/jdi.14169

PMCID:: PMC11215691

Abstract Article PDF–700K

Select item 1121389119.

Plekhm2 acts as an autophagy modulator in murine heart and cardiofibroblasts

Sharon Etzion, Raneen Hijaze, Liad Segal, Sofia Pilcha, Dana Masil, Or Levi, Sigal Elyagon, Aviva Levitas, Yoram Etzion, Ruti Parvari

Sci Rep. 2024; 14: 14949. Published online 2024 Jun 28. doi: 10.1038/s41598-024-65670-5

PMCID:: PMC11213891

Abstract Article PDF–5.9M

Select item 1121347420.

Proof of concept for monoclonal antibody therapy in a cellular model of acquired long QT syndrome type 3

Lenke Kis, Jin Li

Am J Physiol Heart Circ Physiol. 2024 Jan 1; 326(1): H89–H95. Published online 2023 Nov 10. doi: 10.1152/ajpheart.00628.2023

PMCID:: PMC11213474

Abstract Article

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