PubMed for id: 853235

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Results by year

Year	Number of Results
2016	1
2018	55
2019	114
2020	121
2021	98
2022	98
2023	93
2024	38

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Health Care Supervision for Children With Williams Syndrome.

Morris CA, Braddock SR; COUNCIL ON GENETICS. Morris CA, et al. Pediatrics. 2020 Feb;145(2):e20193761. doi: 10.1542/peds.2019-3761. Epub 2020 Jan 21. Pediatrics. 2020. PMID: 31964759 Review.

A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts.

Placidi G, D'Agostino E, Maltese PE, Savastano MC, Gambini G, Rizzo S, Bonetti G, Bertelli M, Chiurazzi P, Falsini B. Placidi G, et al. BMC Med Genomics. 2024 Apr 22;17(1):100. doi: 10.1186/s12920-024-01868-w. BMC Med Genomics. 2024. PMID: 38649918 Free PMC article.

A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review.

Al-Maraghi A, Aamer W, Ziab M, Aliyev E, Elbashir N, Hussein S, Palaniswamy S, Anand D, Love DR, Charles A, A S Akil A, Fakhro KA. Al-Maraghi A, et al. BMC Nephrol. 2024 Apr 22;25(1):139. doi: 10.1186/s12882-024-03569-z. BMC Nephrol. 2024. PMID: 38649831 Free PMC article. Review.

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): challenges in diagnosis and management.

Murali K, Dhua AK. Murali K, et al. BMJ Case Rep. 2024 Apr 16;17(4):e259983. doi: 10.1136/bcr-2024-259983. BMJ Case Rep. 2024. PMID: 38627049

Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.

Billon C, Piccoli GB, de Sainte Agathe JM, Stoeva R, Derive N, Heidet L, Berrebi D, Bruneval P, Jeunemaitre X, Hureaux M. Billon C, et al. Mol Genet Genomics. 2024 Apr 16;299(1):44. doi: 10.1007/s00438-024-02136-3. Mol Genet Genomics. 2024. PMID: 38625590

Molecular pathological approach to cancer epigenomics and its clinical application.

Kanai Y. Kanai Y. Pathol Int. 2024 Apr;74(4):167-186. doi: 10.1111/pin.13418. Epub 2024 Mar 14. Pathol Int. 2024. PMID: 38482965 Review.

Multidisciplinary management improves the genetic diagnosis of hereditary kidney diseases in the next generation sequencing (NGS) era.

Galán Carrillo I, Galbis Martínez L, Martínez V, Roca Meroño S, Ramos F, González Rodríguez JD, Piñero Fernández J, Guillén Navarro E. Galán Carrillo I, et al. Nefrologia (Engl Ed). 2024 Jan-Feb;44(1):69-76. doi: 10.1016/j.nefroe.2024.02.002. Epub 2024 Feb 27. Nefrologia (Engl Ed). 2024. PMID: 38418364 Free article.

Case report: A novel compound heterozygous variant in the TNXB gene causes single kidney agenesis and vesicoureteral reflux.

Liang L, Wu H, Meng H, Fu L, Zhao J. Liang L, et al. Front Endocrinol (Lausanne). 2024 Feb 2;15:1322395. doi: 10.3389/fendo.2024.1322395. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38370350 Free PMC article.

Bardet-Biedl syndrome: A focus on genetics, mechanisms and metabolic dysfunction.

Tomlinson JW. Tomlinson JW. Diabetes Obes Metab. 2024 Apr;26 Suppl 2:13-24. doi: 10.1111/dom.15480. Epub 2024 Feb 1. Diabetes Obes Metab. 2024. PMID: 38302651 Review.

[Long-term auditory monitoring in children with Alport syndrome based on different degrees of renal injury].

Guo L, Liu W, Chen M, Xu J, Ma N, Zhang X, Duan Q, Liu S, Wang X, Zhen J, Ni X, Zhang J. Guo L, et al. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024 Jan;38(1):44-49. doi: 10.13201/j.issn.2096-7993.2024.01.007. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024. PMID: 38297848 Chinese.

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