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Select item 110098341.

Predictors of low bone density and fracture risk in Loeys–Dietz syndrome

Anthony L. Guerrerio, Allyson Mateja, Marjohn Rasooly, Samara Levin, Alaina Magnani, Caeden Dempsey, Gretchen MacCarrick, Harry C. Dietz, Erica Brittain, Alison M. Boyce, Pamela A. Frischmeyer-Guerrerio

Genet Med. Author manuscript; available in PMC 2024 Apr 12.

Published in final edited form as: Genet Med. 2022 Feb; 24(2): 419–429. Published online 2021 Nov 30. doi: 10.1016/j.gim.2021.10.002

PMCID:: PMC11009834

Article PDF–734K

Select item 109987742.

Twelve toll-like receptor (TLR) genes in the family Equidae – comparative genomics, selection and evolution

K. Stejskalova, E. Janova, P. Splichalova, J. Futas, J. Oppelt, R. Vodicka, P. Horin

Vet Res Commun. 2024; 48(2): 725–741. Published online 2023 Oct 24. doi: 10.1007/s11259-023-10245-4

PMCID:: PMC10998774

Article PDF–2.0M

Select item 109581693.

Novel homozygous mutations in TXNDC15 causing Meckel syndrome

Tianqin Deng, Yuli Xie

Mol Genet Genomic Med. 2024 Mar; 12(3): e2343. Published online 2023 Dec 29. doi: 10.1002/mgg3.2343

PMCID:: PMC10958169

Article PDF–835K

Select item 109488134.

Evolutionary origin of Hoxc13-dependent skin appendages in amphibians

Marjolein Carron, Attila Placido Sachslehner, Munevver Burcu Cicekdal, Inge Bruggeman, Suzan Demuynck, Bahar Golabi, Elfride De Baere, Wim Declercq, Erwin Tschachler, Kris Vleminckx, Leopold Eckhart

Nat Commun. 2024; 15: 2328. Published online 2024 Mar 18. doi: 10.1038/s41467-024-46373-x

PMCID:: PMC10948813

Article PDF–1.5M

Select item 109303505.

Börjeson-Forssman-Lehmann综合征1例

潘兰桂, 尹飞, 陈施梦, 熊娟, 何芳, 彭镜

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023 Feb 28; 48(2): 294–301. Chinese. doi: 10.11817/j.issn.1672-7347.2023.220414

PMCID:: PMC10930350

Article PDF–2.7M

Select item 109255186.

Pay Attention to the Osteochondromas in Fibrodysplasia Ossificans Progressiva

Longqing Li, Minxun Lu, Xuanhong He, Chang Zou, Chuanxi Zheng, Yitian Wang, Fan Tang, Yi Luo, Yong Zhou, Li Min, Chongqi Tu

Orthop Surg. 2024 Mar; 16(3): 781–787. Published online 2024 Jan 7. doi: 10.1111/os.13956

PMCID:: PMC10925518

Article PDF–1.3M

Select item 109107707.

Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report

Ameya S. Walimbe, Keren Machol, Stephen F. Kralik, Elizabeth A. Mizerik, Yoel Gofin, Mir Reza Bekheirnia, Charul Gijavanekar, Sarah H. Elsea, Lisa T. Emrick, Fernando Scaglia

BMC Neurol. 2024; 24: 87. Published online 2024 Mar 4. doi: 10.1186/s12883-024-03571-w

PMCID:: PMC10910770

Article PDF–1.5M

Select item 109066948.

Type 1 diabetes in a patient with Ellis-van Creveld syndrome

Carla Graziadio, Pricila Bernardi, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, Giorgio Adriano Paskulin

Sao Paulo Med J. 2012; 130(1): 53–56. Published online 2012 Feb 13. doi: 10.1590/S1516-31802012000100009

PMCID:: PMC10906694

Article PDF–406K

Select item 108757879.

Polyhydramnios associated with rare genetic syndromes: two case reports

C. W. C. Lim, I. E. Lustestica, W. B. Poon, W. C. Tan

J Med Case Rep. 2024; 18: 97. Published online 2024 Feb 19. doi: 10.1186/s13256-024-04435-0

PMCID:: PMC10875787

Article PDF–1.1M

Select item 1087059310.

Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report

Sergey N. Bardakov, Angelina A. Titova, Sergey S. Nikitin, Valentin Nikitins, Margarita O. Sokolova, Vadim A. Tsargush, Elena A. Yuhno, Oleg V. Vetrovoj, Pierre G. Carlier, Yana V. Sofronova, Аrtur А. Isaev, Roman V. Deev

BMC Musculoskelet Disord. 2024; 25: 146. Published online 2024 Feb 16. doi: 10.1186/s12891-024-07270-y

PMCID:: PMC10870593

Article PDF–2.0M

Select item 1078978911.

Large scale plasma proteomics identifies novel proteins and protein networks associated with heart failure development

Amil M. Shah, Peder L. Myhre, Victoria Arthur, Pranav Dorbala, Humaira Rasheed, Leo F. Buckley, Brian Claggett, Guning Liu, Jianzhong Ma, Ngoc Quynh Nguyen, Kunihiro Matsushita, Chiadi Ndumele, Adrienne Tin, Kristian Hveem, Christian Jonasson, Håvard Dalen, Eric Boerwinkle, Ron C. Hoogeveen, Christie Ballantyne, Josef Coresh, Torbjørn Omland, Bing Yu

Nat Commun. 2024; 15: 528. Published online 2024 Jan 15. doi: 10.1038/s41467-023-44680-3

PMCID:: PMC10789789

Article PDF–3.8M

Select item 1078467912.

Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities

Niu Li, Yufei Xu, Hongzhu Chen, Jingqi Lin, Lama AlAbdi, Mir Reza Bekheirnia, Guoqiang Li, Yoel Gofin, Nasim Bekheirnia, Eissa Faqeih, Lina Chen, Guoying Chang, Jie Tang, Ruen Yao, Tingting Yu, Xiumin Wang, Wei Fu, Qihua Fu, Yiping Shen, Fowzan S. Alkuraya, Keren Machol, Jian Wang

eBioMedicine. 2024 Jan; 99: 104940. Published online 2023 Dec 27. doi: 10.1016/j.ebiom.2023.104940

PMCID:: PMC10784679

Article PDF–1.9M

Select item 1076761213.

A novel homozygous missense variant in LRP4 causing Cenani‐Lenz syndactyly syndrome and literature review

Yadong Fu, Yueyun Zhou, Qing'e Zhang, Jingjing Dong, Jianli Zheng, Min Li, Jianbing Liu

Mol Genet Genomic Med. 2024 Jan; 12(1): e2319. Published online 2023 Nov 27. doi: 10.1002/mgg3.2319

PMCID:: PMC10767612

Article PDF–2.0M

Select item 1075460914.

Dual-allele heterozygous mutation of DNAH5 gene in a boy with primary ciliary dyskinesia: A case report

Yu Shi, Qihong Lei, Qing Han

Medicine (Baltimore) 2023 Dec 29; 102(52): e36271. Published online 2023 Dec 29. doi: 10.1097/MD.0000000000036271

PMCID:: PMC10754609

Article PDF–744K

Select item 1072795815.

Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb‐girdle muscular dystrophy

Yen‐Lin Chen, Wen‐Bin Wu, Pei Wang, Ping‐Keung Yip, Yi‐No Wu, Ying‐Hung Lin, Wei‐Ning Lin

Physiol Rep. 2023 Dec; 11(24): e15887. Published online 2023 Dec 18. doi: 10.14814/phy2.15887

PMCID:: PMC10727958

Article PDF–3.6M

Select item 1072450816.

A somatic splice‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report

Matheus V. M. B. Wilke, Lisa Schimmenti, Madeline Q. R. Lopour, Megha M. Tollefson, Eric W. Klee

Mol Genet Genomic Med. 2023 Dec; 11(12): e2271. Published online 2023 Aug 28. doi: 10.1002/mgg3.2271

PMCID:: PMC10724508

Article PDF–1.7M

Select item 1072449617.

Clinical heterogeneity of polish patients with KAT6B–related disorder

Klaniewska Magdalena, Bolanowska‐Tyszko Anna, Latos‐Bielenska Anna, Jezela‐Stanek Aleksandra, Szczaluba Krzysztof, Krajewska‐Walasek Malgorzata, Ciara Elzbieta, Pelc Magdalena, Jurkiewicz Dorota, Stawinski Piotr, Zubkiewicz‐Kucharska Agnieszka, Rydzanicz Małgorzata, Ploski Rafal, Smigiel Robert

Mol Genet Genomic Med. 2023 Dec; 11(12): e2265. Published online 2023 Sep 1. doi: 10.1002/mgg3.2265

PMCID:: PMC10724496

Article PDF–943K

Select item 1062234618.

Empfehlungen zur Versorgung von Patient:innen mit FOP

L. Seefried, D. Banholzer, R. Fischer, I. Grafe, I. Hüning, R Morhart, R. Oheim, O. Semler, H. Siggelkow, C. Stockklausner, H. Hoyer-Kuhn

Orthopadie (Heidelb) 2023; 52(11): 924–930. German. Published online 2023 Aug 21. doi: 10.1007/s00132-023-04425-y

PMCID:: PMC10622346

Article PDF–1.0M

Select item 1060539319.

A novel tetra-primer ARMS-PCR approach for the molecular karyotyping of chromosomal inversion 2Ru in the main malaria vectors Anopheles gambiae and Anopheles coluzzii

Verena Pichler, Antoine Sanou, R. Rebecca Love, Beniamino Caputo, Marco Pombi, Kobie Hyacinth Toe, Moussa W. Guelbeogo, N’Fale Sagnon, Heather M. Ferguson, Hilary Ranson, Alessandra della Torre, Nora J. Besansky

Parasit Vectors. 2023; 16: 388. Published online 2023 Oct 27. doi: 10.1186/s13071-023-06014-6

PMCID:: PMC10605393

Article PDF–1.0M

Select item 1056720920.

A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family

Ghazanfar Ali, Sadia Sadia, Syeda Ain-ul- Batool, Zahid Azeem, Naheed Bashir Awan, Syed Akif Raza Kazmi, Zia- Ur- Rehman, Zeeshan Anjum, Fazal- Ur- Rehman, Abdul Wali, Kafaitullah Khan, Nasib Zaman, Muhammad Ayub, Muhammad Sajid, Noor Hassan

Genet Res (Camb) 2023; 2023: 9999660. Published online 2023 Oct 4. doi: 10.1155/2023/9999660

PMCID:: PMC10567209

Article PDF–1.3M

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