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Select item 117000591.

Molecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome)

Hadiba Bibi, Riaz Ahmad, Fatima Rahman, Shazia Maqbool, Muhammad Naeem, Stephanie Efthymiou, Henry Houlden

Mol Biol Rep. 2025; 52(1): 101. Published online 2025 Jan 4. doi: 10.1007/s11033-024-10183-7

PMCID:: PMC11700059

Abstract Article PDF–1.7M

Select item 116741552.

A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia

Guoying Chang, Fan Yang, Lingwen Ying, Qianwen Zhang, Biyun Feng, Yao Chen, Yu Ding, Tingting Yu, Ruen Yao, Kana Lin, Juan Li, Xiumin Wang

BMC Pediatr. 2024; 24: 838. Published online 2024 Dec 27. doi: 10.1186/s12887-024-05329-2

PMCID:: PMC11674155

Abstract Article PDF–2.6M

Select item 116712473.

Atypical diabetes arising from SHORT syndrome: a case report

Aili Wang, Miao Xu, Li Li, Jialin Li

Front Endocrinol (Lausanne) 2024; 15: 1467364. Published online 2024 Dec 13. doi: 10.3389/fendo.2024.1467364

PMCID:: PMC11671247

Abstract Article PDF–385K

Select item 116678354.

Genetic analysis of partial duplication of the long arm of chromosome 16

Dan Tang, Ai Chen, Jing Xu, Yu Huang, Jun Fan, Jin Wang, Hui Zhu, Guanghuan Pi, Li Yang, Fu Xiong, Zemin Luo, Gen Li, Lan Zeng, Shuyao Zhu

BMC Med Genomics. 2024; 17: 294. Published online 2024 Dec 23. doi: 10.1186/s12920-024-02059-3

PMCID:: PMC11667835

Abstract Article PDF–2.3M

Select item 116489895.

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

Yue Huang, Kristy L. Jay, Alden Yen-Wen Huang, Jijun Wan, Sharayu V. Jangam, Odelia Chorin, Annick Rothschild, Ortal Barel, Milena Mariani, Maria Iascone, Han Xue, Undiagnosed Diseases Network, Jing Huang, Cyril Mignot, Boris Keren, Virginie Saillour, Annelise Y. Mah-Som, Stephanie Sacharow, Farrah Rajabi, Carrie Costin, Shinya Yamamoto, Oguz Kanca, Hugo J. Bellen, Jill A. Rosenfeld, Christina G.S. Palmer, Stanley F. Nelson, Michael F. Wangler, Julian A. Martinez-Agosto

Genet Med. Author manuscript; available in PMC 2024 Dec 16.

Published in final edited form as: Genet Med. 2024 Nov; 26(11): 101218. Published online 2024 Jul 19. doi: 10.1016/j.gim.2024.101218

PMCID:: PMC11648989

Abstract Article PDF–2.7M

Select item 116297326.

Novel OBSL1 Variant in a Chinese Patient with 3M Syndrome: The c.458dupG Mutation May Be a Potential Hotspot Mutation in the Chinese Population

Yurong Piao, Rongmin Li, Yingjie Wang, Congli Chen, Yanmei Sang

J Clin Res Pediatr Endocrinol. 2024 Dec; 16(4): 501–506. Published online 2024 Dec 4. doi: 10.4274/jcrpe.galenos.2024.2023-11-6

PMCID:: PMC11629732

Abstract Article PDF–1.1M

Select item 116297297.

Whole Exome Sequencing Revealed Paternal Inheritance of Obesity-related Genetic Variants in a Family with an Exclusively Breastfed Infant

Hazal Banu Olgun Çelebioğlu, Ayşe Pınar Öztürk, Şükran Poyrazoğlu, Feyza Nur Tuncer

J Clin Res Pediatr Endocrinol. 2024 Dec; 16(4): 450–457. Published online 2024 Dec 4. doi: 10.4274/jcrpe.galenos.2024.2024-1-7

PMCID:: PMC11629729

Abstract Article PDF–691K

Select item 116011058.

特纳综合征临床诊疗管理的现状思考

顾威, 赵雪

Zhongguo Dang Dai Er Ke Za Zhi. 2024 Nov 15; 26(11): 1135–1140. Chinese. doi: 10.7499/j.issn.1008-8830.2407176

PMCID:: PMC11601105

Abstract Article PDF–667K

Select item 115940119.

Noonan Syndrome: Relation of Genotype to Cardiovascular Phenotype—A Multi-Center Retrospective Study

Nikola Ilic, Stasa Krasic, Nina Maric, Vladimir Gasic, Jovana Krstic, Dimitrije Cvetkovic, Vesna Miljkovic, Boris Zec, Ales Maver, Vladislav Vukomanovic, Adrijan Sarajlija

Genes (Basel) 2024 Nov; 15(11): 1463. Published online 2024 Nov 13. doi: 10.3390/genes15111463

PMCID:: PMC11594011

Abstract Article PDF–240K

Select item 1159348010.

Variants of the PTPN11 Gene in Mexican Patients with Noonan Syndrome

Paola Montserrat Zepeda-Olmos, Eduardo Esparza-García, Kiabeth Robles-Espinoza, Juan Ramón González-García, Perla Graciela Rodríguez Gutiérrez, María Teresa Magaña-Torres

Genes (Basel) 2024 Nov; 15(11): 1379. Published online 2024 Oct 25. doi: 10.3390/genes15111379

PMCID:: PMC11593480

Abstract Article PDF–258K

Select item 1156875711.

Disentangling mechanisms behind the pleiotropic effects of proximal 16p11.2 BP4-5 CNVs

Chiara Auwerx, Samuel Moix, Zoltán Kutalik, Alexandre Reymond

Am J Hum Genet. 2024 Nov 7; 111(11): 2347–2361. Published online 2024 Sep 26. doi: 10.1016/j.ajhg.2024.08.014

PMCID:: PMC11568757

Abstract Article PDF–6.1M

Select item 1153949312.

A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature

Guibin Bai, Rougang Yuan, Jian Yuan, Yanqin Liu, Shaozhi Zhao, Xinwen Zhang

BMC Med Genomics. 2024; 17: 262. Published online 2024 Nov 5. doi: 10.1186/s12920-024-02036-w

PMCID:: PMC11539493

Abstract Article PDF–1.3M

Select item 1153283313.

Deciphering Growth Patterns in Korean Children With Sotos Syndrome Through the Development of a Disease‐Specific Growth Chart

Naye Choi, Hwa Young Kim, Jung Min Ko

Mol Genet Genomic Med. 2024 Nov; 12(11): e70028. Published online 2024 Nov 4. doi: 10.1002/mgg3.70028

PMCID:: PMC11532833

Abstract Article PDF–543K

Select item 1150311914.

Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults

Brian C Kavanaugh, Jennifer Elacio, Carrie R Best, Danielle G St Pierre, Matthew F Pescosolido, Qing Ouyang, John Biedermann, Rebecca S Bradley, Judy S Liu, Richard N Jones, Eric M Morrow

J Med Genet. 2024 Sep; 61(11): e109973. Published online 2024 Sep 5. doi: 10.1136/jmg-2024-109973

PMCID:: PMC11503119

Abstract Article PDF–1.1M

Select item 1149981315.

Effect of obesity and NAFLD on leukocyte telomere length and hTERT gene MNS16A VNTR variant

Ibrahim Kandemir, Aylin Yetim Sahin, Yasemin Oyaci, Shahri Khudiyeva, Memduh Sahin, Melike Tuğrul Aksakal, Mustafa Pehlivan, Firdevs Bas, Sacide Pehlivan

Sci Rep. 2024; 14: 25055. Published online 2024 Oct 23. doi: 10.1038/s41598-024-77091-5

PMCID:: PMC11499813

Abstract Article PDF–1.8M

Select item 1147092016.

Ciliopathies are responsible for short stature and insulin resistance: A systematic review of this clinical association regarding SOFT syndrome

Kevin Perge, Emilie Capel, Valérie Senée, Cécile Julier, Corinne Vigouroux, Marc Nicolino

Rev Endocr Metab Disord. 2024; 25(5): 827–838. Published online 2024 Jul 17. doi: 10.1007/s11154-024-09894-w

PMCID:: PMC11470920

Abstract Article PDF–902K

Select item 1146311117.

Integration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y chromosome segment lengths in phenotypic males with 46,XX testicular disorder/difference of sex development

Agnethe Berglund, Emma B. Johannsen, Anne Skakkebæk, Simon Chang, Julia Rohayem, Sandra Laurentino, Arne Hørlyck, Simon O. Drue, Ebbe Norskov Bak, Jens Fedder, Frank Tüttelmann, Jörg Gromoll, Jesper Just, Claus H. Gravholt

Biol Sex Differ. 2024; 15: 77. Published online 2024 Oct 8. doi: 10.1186/s13293-024-00654-8

PMCID:: PMC11463111

Abstract Article PDF–2.3M

Select item 1146272918.

2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report

Estephania Candelo, Sebastian Giraldo-Ocampo, Julian Nevado, Pablo Lapunzina, Harry Pachajoa

BMC Pediatr. 2024; 24: 641. Published online 2024 Oct 9. doi: 10.1186/s12887-024-04843-7

PMCID:: PMC11462729

Abstract Article PDF–3.0M

Select item 1143779519.

A long way to syndromic short stature

Federica Gaudioso, Camilla Meossi, Lidia Pezzani, Federico Grilli, Rosamaria Silipigni, Silvia Russo, Maura Masciadri, Alessandro Vimercati, Paola Giovanna Marchisio, Maria Francesca Bedeschi, Donatella Milani

Ital J Pediatr. 2024; 50: 192. Published online 2024 Sep 27. doi: 10.1186/s13052-024-01737-3

PMCID:: PMC11437795

Abstract Article PDF–2.1M

Select item 1143263420.

The Effects of Growth Hormone Treatment Beyond Growth Promotion in Patients with Genetic Syndromes: A Systematic Review of the Literature

Anna Kucharska, Ewelina Witkowska-Sędek, Michał Erazmus, Dorota Artemniak-Wojtowicz, Maria Krajewska, Beata Pyrżak

Int J Mol Sci. 2024 Sep; 25(18): 10169. Published online 2024 Sep 22. doi: 10.3390/ijms251810169

PMCID:: PMC11432634

Abstract Article PDF–969K

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