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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

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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

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Select item 106710433.

Identification and Functional Verification of CITED2 Gene Promoter Region in Patients with Patent Ductus Arteriosus

Zhuo Chen, Huan-Xin Chen, Hai-Tao Hou, Xiu-Yun Yin, Qin Yang, Guo-Wei He

Int J Mol Sci. 2023 Nov; 24(22): 16204. Published online 2023 Nov 11. doi: 10.3390/ijms242216204

PMCID:: PMC10671043

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Select item 106710064.

Trisomies Reorganize Human 3D Genome

Irina V. Zhegalova, Petr A. Vasiluev, Ilya M. Flyamer, Anastasia S. Shtompel, Eugene Glazyrina, Nadezda Shilova, Marina Minzhenkova, Zhanna Markova, Natalia V. Petrova, Erdem B. Dashinimaev, Sergey V. Razin, Sergey V. Ulianov

Int J Mol Sci. 2023 Nov; 24(22): 16044. Published online 2023 Nov 7. doi: 10.3390/ijms242216044

PMCID:: PMC10671006

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Select item 106703495.

Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype

Ben O. Staar, Jan Hegermann, Bernd Auber, Raphael Ewen, Sandra von Hardenberg, Ruth Olmer, Isabell Pink, Jessica Rademacher, Martin Wetzke, Felix C. Ringshausen

Cells. 2023 Nov; 12(22): 2651. Published online 2023 Nov 18. doi: 10.3390/cells12222651

PMCID:: PMC10670349

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Select item 106618356.

Using Ribonucleoprotein-based CRISPR/Cas9 to Edit Single Nucleotide on Human Induced Pluripotent Stem Cells to Model Type 3 Long QT Syndrome (SCN5A^±)

Ning Ge, Min Liu, Rui Li, Nicholas M. Allen, Joseph Galvin, Sanbing Shen, Timothy O’Brien, Terence W. Prendiville

Stem Cell Rev Rep. 2023; 19(8): 2774–2789. Published online 2023 Aug 31. doi: 10.1007/s12015-023-10602-5

PMCID:: PMC10661835

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Select item 106606437.

ROR2 deficit may induce the tetralogy of Fallot via down‐regulating of β‐catenin/SOX3/HSPA6 in vitro and in vivo

Rui Guo, Yiran Zhou Guo, Qing Zhou, Guoju Li, Zhanghui Du, Yefei Shi, Quansheng Xing

J Cell Mol Med. 2023 Nov; 27(22): 3539–3552. Published online 2023 Sep 25. doi: 10.1111/jcmm.17969

PMCID:: PMC10660643

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Select item 106605558.

Genetic Testing Guidelines Impact Care in Newborns with Congenital Heart Defects

Matthew D. Durbin, Korre Fairman, Lindsey R. Helvaty, Manyan Huang, Ming Li, Daniel Abreu, Gabrielle C. Geddes, Benjamin M. Helm, Benjamin J. Landis, Alexis McEntire, Dana K. Mitchell, Stephanie M. Ware

J Pediatr. Author manuscript; available in PMC 2023 Nov 21.

Published in final edited form as: J Pediatr. 2023 Sep; 260: 113495. Published online 2023 May 20. doi: 10.1016/j.jpeds.2023.113495

PMCID:: PMC10660555

Article PubReader PDF–774K Cite

Select item 106590999.

The molecular mechanisms of oxygen-sensing in human ductus arteriosus smooth muscle cells: A comprehensive transcriptome profile reveals a central role for mitochondria

Rachel E.T. Bentley, Charles C.T. Hindmarch, Kimberly J. Dunham-Snary, Brooke Snetsinger, Jeffrey D. Mewburn, Arthur Thébaud, Patricia D.A. Lima, Bernard Thébaud, Stephen L. Archer

Genomics. Author manuscript; available in PMC 2023 Nov 20.

Published in final edited form as: Genomics. 2021 Sep; 113(5): 3128–3140. Published online 2021 Jul 8. doi: 10.1016/j.ygeno.2021.07.006

PMCID:: PMC10659099

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Select item 1065698810.

Analysis of genetic testing in fetuses with congenital heart disease of single atria and/or single ventricle in a Chinese prenatal cohort

Min Li, Baoying Ye, Yiyao Chen, Li Gao, Yi Wu, Weiwei Cheng

BMC Pediatr. 2023; 23: 577. Published online 2023 Nov 18. doi: 10.1186/s12887-023-04382-7

PMCID:: PMC10656988

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Select item 1065684111.

Hemophilia A and factor V deficiency in a girl with Turner syndrome: a case report

Rawan Al khudari, Duaa Batesh, Roaa Habash, Othman Hamdn

J Med Case Rep. 2023; 17: 480. Published online 2023 Nov 18. doi: 10.1186/s13256-023-04215-2

PMCID:: PMC10656841

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Select item 1065561612.

A Double-Blind, Placebo-Controlled, Crossover Study of Magnesium Supplementation in Patients with XMEN Disease

Samuel D. Chauvin, Susan Price, Juan Zou, Sally Hunsberger, Alessandra Brofferio, Helen Matthews, Morgan Similuk, Sergio D. Rosenzweig, Helen C. Su, Jeffrey I. Cohen, Michael J. Lenardo, Juan C. Ravell

J Clin Immunol. Author manuscript; available in PMC 2023 Nov 17.

Published in final edited form as: J Clin Immunol. 2022 Jan; 42(1): 108–118. Published online 2021 Oct 16. doi: 10.1007/s10875-021-01137-w

PMCID:: PMC10655616

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Select item 1065551713.

Noonan syndrome: rhGH treatment and PTPN11 mutation

Xian Wu, Jiali Wu, Yi Yuan, Li Yang, Lirong Yu

Mol Genet Genomic Med. 2023 Nov; 11(11): e2266. Published online 2023 Aug 1. doi: 10.1002/mgg3.2266

PMCID:: PMC10655517

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Select item 1065506214.

Effects of cohort, genotype, variant, and maternal β-blocker treatment on foetal heart rate predictors of inherited long QT syndrome

Alexander M Kaizer, Annika Winbo, Sally-Ann B Clur, Susan P Etheridge, Michael J Ackerman, Hitoshi Horigome, Ulrike Herberg, Federica Dagradi, Carla Spazzolini, Stacy A S Killen, Annette Wacker-Gussmann, Arthur A M Wilde, Elena Sinkovskaya, Alfred Abuhamad, Margherita Torchio, Chai-Ann Ng, Annika Rydberg, Peter J Schwartz, Bettina F Cuneo

Europace. 2023 Nov; 25(11): euad319. Published online 2023 Nov 17. doi: 10.1093/europace/euad319

PMCID:: PMC10655062

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Select item 1065353915.

Indications, types, and diagnostic implications of prenatal genetic testing in Sub-Saharan Africa: A descriptive study

Abraham Fessehaye Sium, Tariku Shimels, Abdulfetah Abdulkadir Abdosh, Tesfaye Diress, Tigist Tsegaye, Tizibt Yifrashewa, Zewdu Terefework, Wondimu Gudu

PLoS One. 2023; 18(11): e0294409. Published online 2023 Nov 16. doi: 10.1371/journal.pone.0294409

PMCID:: PMC10653539

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Select item 1064893216.

Nipbl Haploinsufficiency Leads to Delayed Outflow Tract Septation and Aortic Valve Thickening

Fanny Boulet, Gaelle Odelin, Alenca Harrington, Thomas Moore-Morris

Int J Mol Sci. 2023 Nov; 24(21): 15564. Published online 2023 Oct 25. doi: 10.3390/ijms242115564

PMCID:: PMC10648932

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Select item 1064300417.

A novel role for PGE₂-EP₄ in the developmental programming of the mouse ductus arteriosus: consequences for vessel maturation and function

Michael T. Yarboro, Naoko Boatwright, Deanna C. Sekulich, Christopher W. Hooper, Ting Wong, Stanley D. Poole, Courtney D. Berger, Alexus J. Brown, Christopher S. Jetter, Jennifer M. S. Sucre, Elaine L. Shelton, Jeff Reese

Am J Physiol Heart Circ Physiol. 2023 Oct 1; 325(4): H687–H701. Published online 2023 Aug 11. doi: 10.1152/ajpheart.00294.2023

PMCID:: PMC10643004

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Select item 1064180318.

Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes

Anna Papadopoulou, Evangelia Bountouvi

Front Endocrinol (Lausanne) 2023; 14: 1231828. Published online 2023 Oct 27. doi: 10.3389/fendo.2023.1231828

PMCID:: PMC10641803

Article PubReader PDF–550K Cite

Select item 1063731019.

Enhancing the interpretation of genetic observations in KCNQ1 in unselected populations: relevance to secondary findings

Valeria Novelli, Trent Faultless, Marina Cerrone, Melanie Care, Martina Manzoni, Sara L Bober, Arnon Adler, Fabio De-Giorgio, Danna Spears, Michael H Gollob

Europace. 2023 Nov; 25(11): euad317. Published online 2023 Oct 28. doi: 10.1093/europace/euad317

PMCID:: PMC10637310

Article PubReader PDF–483K Cite

Select item 1063593520.

LOC102549726/miR-760-3p network is involved in the progression of ISO-induced pathological cardiomyocyte hypertrophy via endoplasmic reticulum stress

Bangsheng Chen, Lian Tan, Ying Wang, Lei Yang, Jiequan Liu, Danqi Chen, Shuaishuai Huang, Feiyan Mao, Jiangfang Lian

J Mol Histol. 2023; 54(6): 675–687. Published online 2023 Oct 30. doi: 10.1007/s10735-023-10166-1

PMCID:: PMC10635935

Article PubReader PDF–7.7M Cite

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