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Select item 110501431.

Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review

Ji Yoon Han, Joonhong Park

Genes (Basel) 2024 Apr; 15(4): 445. Published online 2024 Mar 31. doi: 10.3390/genes15040445

PMCID:: PMC11050143

Abstract Article PDF–1.2M

Select item 110367282.

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 109779833.

Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice

Maria I. Bergamasco, Hannah K. Vanyai, Alexandra L. Garnham, Niall D. Geoghegan, Adam P. Vogel, Samantha Eccles, Kelly L. Rogers, Gordon K. Smyth, Marnie E. Blewitt, Anthony J. Hannan, Tim Thomas, Anne K. Voss

J Clin Invest. 2024 Apr 1; 134(7): e167672. Published online 2024 Apr 1. doi: 10.1172/JCI167672

PMCID:: PMC10977983

Abstract Article PDF–28M

Select item 109526214.

Long QT syndrome‐associated calmodulin variants disrupt the activity of the slowly activating delayed rectifier potassium channel

Liam McCormick, Kirsty Wadmore, Amy Milburn, Nitika Gupta, Rachael Morris, Marie Held, Ohm Prakash, Joseph Carr, Richard Barrett‐Jolley, Caroline Dart, Nordine Helassa

J Physiol. 2023 Sep 1; 601(17): 3739–3764. Published online 2023 Jul 10. doi: 10.1113/JP284994

PMCID:: PMC10952621

Abstract Article PDF–4.0M

Select item 109385175.

Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals

Ruken Yıldırım, Edip Ünal, Şervan Özalkak, Akçahan Akalın, Ayça Aykut, Nevzat Yılmaz

J Clin Res Pediatr Endocrinol. 2024 Mar; 16(1): 76–83. Published online 2024 Mar 11. doi: 10.4274/jcrpe.galenos.2023.2023-5-16

PMCID:: PMC10938517

Abstract Article PDF–503K

Select item 109303016.

BRAF基因突变所致心-面-皮肤综合征1例并文献复习

陈柏谕, 陈施梦, 熊娟, 尹飞

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2021 Apr 28; 46(4): 432–437. Chinese. doi: 10.11817/j.issn.1672-7347.2021.190756

PMCID:: PMC10930301

Abstract Article PDF–1011K

Select item 108913727.

Syndrome de Williams-Beuren: étude rétrospective d’une série de 11 cas du Centre Hospitalier Universitaire Mohammed VI de Marrakech

Fatima Zahrae Bouzid, Hanane Ait Hammou, Hassan Akallakh, Kenza Dafir, Mariam Tajir, Nisrine Aboussair

Pan Afr Med J. 2023; 46: 94. French. Publication en ligne 2023 déc. 1. DOI : 10.11604/pamj.2023.46.94.29604

PMCID:: PMC10891372

Abstract Article PDF–341K

Select item 108893998.

Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders

Emily Baum, Wenming Huang, Catherine Vincent-Delorme, Perrine Brunelle, Adam Antebi, Hormos Salimi Dafsari

Int J Mol Sci. 2024 Feb; 25(4): 2053. Published online 2024 Feb 8. doi: 10.3390/ijms25042053

PMCID:: PMC10889399

Abstract Article PDF–4.0M

Select item 108881669.

Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome

Henrique Garcia Silveira, Carlos Eduardo Steiner, Giovana Toccoli, Luise Longo Angeloni, Júlia Lôndero Heleno, Samira Spineli-Silva, Ana Mondadori dos Santos, Társis Paiva Vieira, Maria Isabel Melaragno, Vera Lúcia Gil-da-Silva-Lopes

Genes (Basel) 2024 Feb; 15(2): 211. Published online 2024 Feb 6. doi: 10.3390/genes15020211

PMCID:: PMC10888166

Abstract Article PDF–623K

Select item 1087588310.

Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study

Yirou Wang, Yufei Xu, Yao Chen, Yabin Hu, Qun Li, Shijian Liu, Jian Wang, Xiumin Wang

BMC Pediatr. 2024; 24: 133. Published online 2024 Feb 19. doi: 10.1186/s12887-024-04562-z

PMCID:: PMC10875883

Abstract Article PDF–857K

Select item 1086514711.

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 1086098612.

Feihong Li, Wenyang Wang, Yazhou Li, Xiwang Liu, Zhirui Zhu, Jian Tang, Yaoqin Hu

Medicine (Baltimore) 2024 Feb 9; 103(6): e36034. Published online 2024 Feb 9. doi: 10.1097/MD.0000000000036034

PMCID:: PMC10860986

Abstract Article PDF–642K

Select item 1079783613.

A new phenotype of EVEN‐PLUS syndrome in a Chinese family and literature review

Ming Liu, Huanhuan Li, Shuhong Ren, Changhong Ding

Mol Genet Genomic Med. 2024 Jan; 12(1): e2335. Published online 2024 Jan 19. doi: 10.1002/mgg3.2335

PMCID:: PMC10797836

Abstract Article PDF–2.2M

Select item 1077939214.

SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability

Matthew P. O’Brien, Marina V. Pryzhkova, Evelyn M. R. Lake, Francesca Mandino, Xilin Shen, Ruchika Karnik, Alisa Atkins, Michelle J. Xu, Weizhen Ji, Monica Konstantino, Martina Brueckner, Laura R. Ment, Mustafa K. Khokha, Philip W. Jordan

Int J Mol Sci. 2024 Jan; 25(1): 430. Published online 2023 Dec 28. doi: 10.3390/ijms25010430

PMCID:: PMC10779392

Abstract Article PDF–3.7M

Select item 1076759315.

The RRAS2 pathogenic variant (c.67G>T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma

Lan Zeng, Jin Wang, Hui Zhu, Yu Huang, Yi Deng, Ping Wei, Jing Nie, Bei Tang, Ai Chen, Shuyao Zhu

Mol Genet Genomic Med. 2024 Jan; 12(1): e2313. Published online 2023 Nov 9. doi: 10.1002/mgg3.2313

PMCID:: PMC10767593

Abstract Article PDF–2.4M

Select item 1076757716.

A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2

Whitney Whitford, Juliet Taylor, Ian Hayes, Warwick Smith, Russell G. Snell, Klaus Lehnert, Jessie C. Jacobsen

Mol Genet Genomic Med. 2024 Jan; 12(1): e2350. Published online 2023 Dec 26. doi: 10.1002/mgg3.2350

PMCID:: PMC10767577

Abstract Article PDF–1.6M

Select item 1076267017.

Biallelic variants in RBM42 cause a multisystem disorder with neurological, facial, cardiac, and musculoskeletal involvement

Yiyao Chen, Bingxin Yang, Xiaoyu Merlin Zhang, Songchang Chen, Minhui Wang, Liya Hu, Nina Pan, Shuyuan Li, Weihui Shi, Zhenhua Yang, Li Wang, Yajing Tan, Jian Wang, Yanlin Wang, Qinghe Xing, Zhonghua Ma, Jinsong Li, He-Feng Huang, Jinglan Zhang, Chenming Xu

Protein Cell. 2024 Jan; 15(1): 52–68. Published online 2023 Jun 9. doi: 10.1093/procel/pwad034