PubMed for id: 462535

Year	Number of Results
2015	5
2016	51
2017	72
2018	55
2019	71
2020	77
2021	61
2022	78
2023	67
2024	43

1

A novel adamantane thiadiazole derivative induces mitochondria-mediated apoptosis in lung carcinoma cell line.

Ali AG, Mohamed MF, Abdelhamid AO, Mohamed MS. Ali AG, et al. Bioorg Med Chem. 2017 Jan 1;25(1):241-253. doi: 10.1016/j.bmc.2016.10.040. Epub 2016 Nov 5. Bioorg Med Chem. 2017. PMID: 27847140

2

Clinical features of a novel compound heterozygous genotype of the BBS2 gene: a case report.

Li M, Li Y, Wen T, Zhou H, Xie W. Li M, et al. J Int Med Res. 2024 Aug;52(8):3000605241274239. doi: 10.1177/03000605241274239. J Int Med Res. 2024. PMID: 39175229 Free PMC article.

3

Skeletal dysmorphology and mineralization defects in Fgf20 KO mice.

Dlugosova S, Spoutil F, Madureira Trufen CE, Melike Ogan B, Prochazkova M, Fedosieieva O, Nickl P, Aranaz Novaliches G, Sedlacek R, Prochazka J. Dlugosova S, et al. Front Endocrinol (Lausanne). 2024 Jul 26;15:1286365. doi: 10.3389/fendo.2024.1286365. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 39129916 Free PMC article.

4

Whole Genome Sequencing Solves an Atypical Form of Bardet-Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9.

Stellacci E, Niceta M, Bruselles A, Straface E, Tatti M, Carvetta M, Mancini C, Cecchetti S, Parravano M, Barbano L, Varano M, Tartaglia M, Ziccardi L, Cordeddu V. Stellacci E, et al. Int J Mol Sci. 2024 Jul 30;25(15):8313. doi: 10.3390/ijms25158313. Int J Mol Sci. 2024. PMID: 39125883 Free PMC article.

5

Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review.

Nowak-Ciołek M, Ciołek M, Tomaszewska A, Hildebrandt F, Kitzler T, Deutsch K, Lemberg K, Shril S, Szczepańska M, Zachurzok A. Nowak-Ciołek M, et al. Front Endocrinol (Lausanne). 2024 Jul 18;15:1424819. doi: 10.3389/fendo.2024.1424819. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 39092285 Free PMC article. Review.

6

Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly.

Wang RY, Xiong Q, Chang SH, Jin JY, Xiang R, Zeng L, Yu F. Wang RY, et al. J Orthop Surg Res. 2024 Jul 30;19(1):449. doi: 10.1186/s13018-024-04928-0. J Orthop Surg Res. 2024. PMID: 39080720 Free PMC article.

7

Phenotypic and cytogenetic variability of patau syndrome in Morocco.

Hammou HA, Sennaoui M, Bouzid F, Dafir K, Qabli ME, Akallakh H, Mansouri M, Maoulainine FMR, Bouskraoui M, Aboussair N. Hammou HA, et al. Afr Health Sci. 2023 Dec;23(4):575-581. doi: 10.4314/ahs.v23i4.60. Afr Health Sci. 2023. PMID: 38974285 Free PMC article.

8

The Clinical and Mutational Spectrum of Bardet-Biedl Syndrome in Saudi Arabia.

Milibari D, Nowilaty SR, Ba-Abbad R. Milibari D, et al. Genes (Basel). 2024 Jun 11;15(6):762. doi: 10.3390/genes15060762. Genes (Basel). 2024. PMID: 38927698 Free PMC article.

9

A novel missense variant located within the zinc finger domain of the GLI3 gene was identified in a Vietnamese pedigree with index finger polydactyly.

Nguyen TN, Tran GS, Hoang HD, Nguyen LG. Nguyen TN, et al. Mol Genet Genomic Med. 2024 Jun;12(6):e2468. doi: 10.1002/mgg3.2468. Mol Genet Genomic Med. 2024. PMID: 38864382 Free PMC article.

10

Biallelic loss-of-function variants in the centriolar protein CCP110 leads to a ciliopathy-like phenotype.

Suzuki H, Muramatsu Y, Miya F, Asada H, Yamada M, Nishimura G, Kosaki K, Takenouchi T. Suzuki H, et al. Eur J Med Genet. 2024 Aug;70:104955. doi: 10.1016/j.ejmg.2024.104955. Epub 2024 Jun 8. Eur J Med Genet. 2024. PMID: 38857829 Free article.

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