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Select item 115007661.

Successful Anesthetic Management of a Pediatric Patient With Wolf-Hirschhorn Syndrome Undergoing Strabismus Surgery: A Case Report

Linda Gholmieh, Rosanne El Assaad

Cureus. 2024 Sep; 16(9): e70099. Published online 2024 Sep 24. doi: 10.7759/cureus.70099

PMCID:: PMC11500766

Abstract Article PDF–1.4M

Select item 114452862.

Congenital diaphragmatic hernia and cleft lip and palate: looking for a common genetic etiology

Petra Nord, Ashley H. Ebanks, Petra Peterson, Erik Iwarsson, Matthew T. Harting, Carmen Mesas Burgos, For the Congenital Diaphragmatic Hernia Study Group

Pediatr Surg Int. 2024; 40(1): 259. Published online 2024 Oct 1. doi: 10.1007/s00383-024-05843-5

PMCID:: PMC11445286

Abstract Article PDF–695K

Select item 114033843.

WHS Guidelines for the Treatment of Pressure Ulcers – 2023 update

Lisa J. Gould, Jenny Alderden, Rummana Aslam, Adrian Barbul, Kath M. Bogie, Mohamed El Masry, Letitia Y. Graves, E. Foy White-Chu, Amany Ahmed, KerriAnn Boanca, Jessica Brash, Katie R. Brooks, Wendy Cockron, Susan M. Kennerly, Aaron K. Livingston, Jeni Page, Catherine Stephens, Velena West, Tracey L Yap

Wound Repair Regen. Author manuscript; available in PMC 2024 Sep 16.

Published in final edited form as: Wound Repair Regen. 2024 Jan-Feb; 32(1): 6–33. Published online 2023 Dec 20. doi: 10.1111/wrr.13130

PMCID:: PMC11403384

Abstract Article PDF–609K

Select item 113698004.

Proximal 4p Deletion Syndrome in an Infant With Multiple Systemic Anomalies

Ying Pang, Lan Zeng, Hua Liang, Chunlan Cheng, Lihui Shan, Jin Wang, Nanjing Jiang, Guanghuan Pi, Li Yang, Ai Chen, Fu Xiong, Shuyao Zhu

Mol Genet Genomic Med. 2024 Sep; 12(9): e70005. Published online 2024 Sep 3. doi: 10.1002/mgg3.70005

PMCID:: PMC11369800

Abstract Article PDF–1.3M

Select item 112169505.

Aspirin and lipoprotein(a) in primary prevention

Harpreet S. Bhatia

Curr Opin Lipidol. Author manuscript; available in PMC 2024 Jul 2.

Published in final edited form as: Curr Opin Lipidol. 2023 Oct 1; 34(5): 214–220. Published online 2023 Jul 31. doi: 10.1097/MOL.0000000000000891

PMCID:: PMC11216950

Abstract Article PDF–792K

Select item 108761496.

Association of tameness and sociability but no sign of domestication syndrome in mice selectively bred for active tameness

Bharathi Venkatachalam, Bhim B. Biswa, Hiromichi Nagayama, Tsuyoshi Koide

Genes Brain Behav. 2024 Feb; 23(1): e12887. Published online 2024 Feb 19. doi: 10.1111/gbb.12887

PMCID:: PMC10876149

Abstract Article PDF–10M

Select item 108651477.

Clinical details of individuals with Rauch–Steindl syndrome due to NSD2 truncating variants

Eriko Nishi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto

Mol Genet Genomic Med. 2024 Feb; 12(2): e2396. Published online 2024 Feb 14. doi: 10.1002/mgg3.2396

PMCID:: PMC10865147

Abstract Article PDF–1.6M

Select item 107567318.

Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature

Changqing Xia, Dibyendu Kumar, Bei You, Deanna L. Streck, Lisa Osborne, James Dermody, Jie-Gen Jiang, Beth A. Pletcher

J Pediatr Genet. 2023 Dec; 12(4): 312–317. Published online 2021 Jun 26. doi: 10.1055/s-0041-1729751

PMCID:: PMC10756731

Abstract Article PDF–365K

Select item 107267099.

The Inflammation Biomarker GlycA Reflects Plasma N-Glycan Branching

Maxence Noel, Daniel I Chasman, Samia Mora, James D Otvos, Christopher D Palmer, Patrick J Parsons, Jordan W Smoller, Richard D Cummings, Robert G Mealer

Clin Chem. 2023 Jan; 69(1): 80–87. Published online 2022 Oct 18. doi: 10.1093/clinchem/hvac160

PMCID:: PMC10726709

Abstract Article PDF–503K

Select item 1065623410.

Wolf-Hirschhorn syndrome candidate 1 (Whsc1) methyltransferase signals via a Pitx2-miR-23/24 axis to effect tooth development

Dan Su, Steve Eliason, Zhao Sun, Fan Shao, Brad A. Amendt

J Biol Chem. 2023 Nov; 299(11): 105324. Published online 2023 Oct 6. doi: 10.1016/j.jbc.2023.105324

PMCID:: PMC10656234

Abstract Article PDF–5.0M

Select item 1042413711.

Association of Parkinson’s disease status with accelerometer-derived physical activity and sedentary behavior in older women: The Women’s Health Study (WHS)

Jennifer L. Hale, Gregory Knell, Michael D. Swartz, Eric J. Shiroma, Terry Ellis, I-Min Lee, Kelley Pettee Gabriel

Prev Med Rep. 2023 Oct; 35: 102361. Published online 2023 Aug 2. doi: 10.1016/j.pmedr.2023.102361

PMCID:: PMC10424137

Abstract Article PDF–437K

Select item 1042206412.

Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses

Gang Peng, Qinghua Zhou, Hongyan Chai, Jiadi Wen, Hongyu Zhao, Hugh S. Taylor, Yong‐Hui Jiang, Peining Li

Mol Genet Genomic Med. 2023 Aug; 11(8): e2181. Published online 2023 Apr 4. doi: 10.1002/mgg3.2181

PMCID:: PMC10422064

Abstract Article PDF–1.0M

Select item 1041388113.

Features of the Wolf-Hirschhorn Syndrome (WHS) from Infant to Young Teenager

D.E. Popescu, D. Marian, M. Zeleniuc, Ch. Samoila, V. Belengeanu

Balkan J Med Genet. 2023 Jul; 26(1): 75–82. Published online 2023 Jul 31. doi: 10.2478/bjmg-2023-0006

PMCID:: PMC10413881

Abstract Article PDF–1.1M

Select item 1026509614.

Prenatal phenotype of Wolf–Hirschhorn syndrome: A case series and literature review

Feng Tang, Yang Zeng, Li Wang, Daishu Yin, Lin Chen, Dan Xie, Jing Wang

Mol Genet Genomic Med. 2023 Jun; 11(6): e2155. Published online 2023 Feb 27. doi: 10.1002/mgg3.2155

PMCID:: PMC10265096

Abstract Article PDF–549K

Select item 1022519815.

NSD3, a member of nuclear receptor‐binding SET domain family, is a potential prognostic biomarker for pancreatic cancer

Qunli Xiong, Ying Zhou, Su Zhang, Yaguang Zhang, Yongfeng Xu, Yang Yang, Congya Zhou, Zhu Zeng, Junhong Han, Qing Zhu

Cancer Med. 2023 May; 12(9): 10961–10978. Published online 2023 Apr 16. doi: 10.1002/cam4.5774

PMCID:: PMC10225198

Abstract Article PDF–14M

Select item 1018370816.

WHSC1 is involved in DNA damage, cellular senescence and immune response in hepatocellular carcinoma progression

Jia Yan, Ming Yang Zhang, Jing Lin, Ke Xin Li, Zhi Min Zhao, Yu Min Gao, Xiu Ling Deng, Chang Shan Wang, Hai Sheng Wang

J Cell Mol Med. 2023 May; 27(10): 1436–1441. Published online 2023 Apr 18. doi: 10.1111/jcmm.17743

PMCID:: PMC10183708

Abstract Article PDF–4.3M

Select item 1004836017.

Familial 4p Interstitial Deletion Provides New Insights and Candidate Genes Underlying This Rare Condition

Jing Di, Leonard Yenwongfai, Hillary T. Rieger, Shulin Zhang, Sainan Wei

Genes (Basel) 2023 Mar; 14(3): 635. Published online 2023 Mar 3. doi: 10.3390/genes14030635

PMCID:: PMC10048360

Abstract Article PDF–843K

Select item 1004820218.

A Case Report of a Feto-Placental Mosaicism Involving a Segmental Aneuploidy: A Challenge for Genome Wide Screening by Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma

Luigia De Falco, Giuseppina Vitiello, Giovanni Savarese, Teresa Suero, Raffaella Ruggiero, Pasquale Savarese, Monica Ianniello, Nadia Petrillo, Mariasole Bruno, Antonietta Legnante, Francesco Fioravanti Passaretti, Carmela Ardisia, Attilio Di Spiezio Sardo, Antonio Fico

Genes (Basel) 2023 Mar; 14(3): 668. Published online 2023 Mar 7. doi: 10.3390/genes14030668

PMCID:: PMC10048202

Abstract Article PDF–3.6M

Select item 990888919.

MORF and MOZ acetyltransferases target unmethylated CpG islands through the winged helix domain

Dustin C. Becht, Brianna J. Klein, Akinori Kanai, Suk Min Jang, Khan L. Cox, Bing-Rui Zhou, Sabrina K. Phanor, Yi Zhang, Ruo-Wen Chen, Christopher C. Ebmeier, Catherine Lachance, Maxime Galloy, Amelie Fradet-Turcotte, Martha L. Bulyk, Yawen Bai, Michael G. Poirier, Jacques Côté, Akihiko Yokoyama, Tatiana G. Kutateladze

Nat Commun. 2023; 14: 697. Published online 2023 Feb 8. doi: 10.1038/s41467-023-36368-5

PMCID:: PMC9908889

Abstract Article PDF–12M

Select item 950206320.

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

Rauan Kaiyrzhanov, Sami E.M. Mohammed, Reza Maroofian, Ralf A. Husain, Alessia Catania, Alessandra Torraco, Ahmad Alahmad, Marina Dutra-Clarke, Sabine Grønborg, Annapurna Sudarsanam, Julie Vogt, Filippo Arrigoni, Julia Baptista, Shahzad Haider, René G. Feichtinger, Paolo Bernardi, Alessandra Zulian, Mirjana Gusic, Stephanie Efthymiou, Renkui Bai, Farah Bibi, Alejandro Horga, Julian A. Martinez-Agosto, Amanda Lam, Andreea Manole, Diego-Perez Rodriguez, Romina Durigon, Angela Pyle, Buthaina Albash, Carlo Dionisi-Vici, David Murphy, Diego Martinelli, Enrico Bugiardini, Katrina Allis, Costanza Lamperti, Siegfried Reipert, Lotte Risom, Lucia Laugwitz, Michela Di Nottia, Robert McFarland, Laura Vilarinho, Michael Hanna, Holger Prokisch, Johannes A. Mayr, Enrico Silvio Bertini, Daniele Ghezzi, Elsebet Østergaard, Saskia B. Wortmann, Rosalba Carrozzo, Tobias B. Haack, Robert W. Taylor, Antonella Spinazzola, Karin Nowikovsky, Henry Houlden

Am J Hum Genet. 2022 Sep 1; 109(9): 1692–1712. Published online 2022 Sep 1. doi: 10.1016/j.ajhg.2022.07.007

PMCID:: PMC9502063

Abstract Article PDF–3.8M

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