PMC Articles for MedGen (Select 548468) - PMC

Result Filters

Links from MedGen

Items: 13

Select item 44290241.

Mechanical Properties of Calvarial Bones in a Mouse Model for Craniosynostosis

Mehran Moazen, Emma Peskett, Christian Babbs, Erwin Pauws, Michael J. Fagan

PLoS One. 2015; 10(5): e0125757. Published online 2015 May 12. doi: 10.1371/journal.pone.0125757

PMCID:: PMC4429024

Abstract Article PDF–5.6M

Select item 10161222.

The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p.

L A Brueton, L van Herwerden, K A Chotai, R M Winter

J Med Genet. 1992 Oct; 29(10): 681–685. doi: 10.1136/jmg.29.10.681

PMCID:: PMC1016122

Summary Page Browse PDF–745K

Select item 82466723.

Two novel mutations in TCIRG1 induced infantile malignant osteopetrosis: a case report

Ping Wu, Zhe Cai, Wen-Hui Jiang, Gen Lu, Pei-Qiong Wu, Zhi-Wei Xie, Jun-Zheng Peng, Chen Chen, Jun-Ye Qi, Li-Zhen Xu, Kun-Ling Shen, Hua-Song Zeng, Gen-Quan Yin

BMC Pediatr. 2021; 21: 297. Published online 2021 Jul 1. doi: 10.1186/s12887-021-02774-1

PMCID:: PMC8246672

Abstract Article PDF–1.1M

Select item 78160894.

High Incidence of Cranial Synostosis and Chiari I Malformation in Children With X‐Linked Hypophosphatemic Rickets (XLHR)

Anya Rothenbuhler, Nathalie Fadel, Yahya Debza, Justine Bacchetta, Mamadou Tidiane Diallo, Catherine Adamsbaum, Agnès Linglart, Federico Di Rocco

J Bone Miner Res. 2019 Mar; 34(3): 490–496. Published online 2018 Nov 20. doi: 10.1002/jbmr.3614

PMCID:: PMC7816089

Abstract Article PDF–270K

Select item 110026375.

Further delineation of phenotype and genotype of Kenny–Caffey syndrome type 2 (phenotype and genotype of KCS type 2)

Xuefei Chen, Chaochun Zou

Mol Genet Genomic Med. 2024 Apr; 12(4): e2433. Published online 2024 Apr 9. doi: 10.1002/mgg3.2433

PMCID:: PMC11002637

Abstract Article PDF–2.8M

Select item 101763356.

Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia

Tessi Beyltjens, Eveline Boudin, Nicole Revencu, Nele Boeckx, Miriam Bertrand, Leon Schütz, Tobias B Haack, Axel Weber, Eleni Biliouri, Mateja Vinkšel, Anja Zagožen, Borut Peterlin, Shashidhar Pai, Aida Telegrafi, Lindsay B Henderson, Courtney Ells, Lesley Turner, Wim Wuyts, Wim Van Hul, Gretl Hendrickx, Geert R Mortier

J Med Genet. 2023 May; 60(5): 498–504. Published online 2022 Oct 14. doi: 10.1136/jmg-2022-108739

PMCID:: PMC10176335

Abstract Article PDF–786K

Select item 69668127.

Cleidocranial dysplasia with growth hormone deficiency: a case report

Nozomi Takaki, Jun Mori, Satoshi Matsuo, Toshio Osamura, Toshimi Michigami

BMC Pediatr. 2020; 20: 19. Published online 2020 Jan 16. doi: 10.1186/s12887-020-1914-8

PMCID:: PMC6966812

Abstract Article PDF–1.1M

Select item 66771498.

Inactivation of Nell-1 in chondrocytes significantly impedes appendicular skeletogenesis

Huichuan Qi, Jong Kil Kim, Pin Ha, Xiaoyan Chen, Eric Chen, Yao Chen, Jiayi Li, Hsin Chuan Pan, Mengliu Yu, Yasamin Mohazeb, Sophia Azer, Lloyd Baik, Jin Hee Kwak, Kang Ting, Xinli Zhang, Min Hu, Chia Soo

J Bone Miner Res. Author manuscript; available in PMC 2020 Mar 1.

Published in final edited form as: J Bone Miner Res. 2019 Mar; 34(3): 533–546. Published online 2018 Dec 14. doi: 10.1002/jbmr.3615