PubMed for id: 462208

Year	Number of Results
2014	1
2021	98
2022	266
2023	213

1

EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013.

Krausz C, Hoefsloot L, Simoni M, Tüttelmann F; European Academy of Andrology; European Molecular Genetics Quality Network. Krausz C, et al. Andrology. 2014 Jan;2(1):5-19. doi: 10.1111/j.2047-2927.2013.00173.x. Andrology. 2014. PMID: 24357628 Free PMC article. Review.

2

Brain Gene Co-Expression Network Analysis Identifies 22q13 Region Genes Associated with Autism, Intellectual Disability, Seizures, Language Impairment, and Hypotonia.

Shah S, Sarasua SM, Boccuto L, Dean BC, Wang L. Shah S, et al. Genes (Basel). 2023 Oct 26;14(11):1998. doi: 10.3390/genes14111998. Genes (Basel). 2023. PMID: 38002941 Free PMC article.

3

Exome and genome sequencing to unravel the precise breakpoints of partial trisomy 6q and partial Monosomy 2q.

Zhang S, Cui Q, Yang S, Zhang F, Li C, Wang X, Lei B, Sheng X. Zhang S, et al. BMC Pediatr. 2023 Nov 22;23(1):586. doi: 10.1186/s12887-023-04368-5. BMC Pediatr. 2023. PMID: 37993819 Free PMC article.

4

Interdependence of Molecular Lesions That Drive Uveal Melanoma Metastasis.

Reggiani F, Ambrosio M, Croce M, Tanda ET, Spagnolo F, Raposio E, Petito M, El Rashed Z, Forlani A, Pfeffer U, Amaro AA. Reggiani F, et al. Int J Mol Sci. 2023 Oct 26;24(21):15602. doi: 10.3390/ijms242115602. Int J Mol Sci. 2023. PMID: 37958591 Free PMC article.

5

Deletion in 1p36.33-p36.32 is associated with pancytopenia: a case report.

Yang H, Huang J, Zheng H, Zhang Y, Zhang Y, Liu W, Wu J, Chen X, Lin J, Ni Y, Nie X. Yang H, et al. BMC Med Genomics. 2023 Nov 9;16(1):282. doi: 10.1186/s12920-023-01723-4. BMC Med Genomics. 2023. PMID: 37946214 Free PMC article.

6

Analysis of copy number variations and possible candidate genes in spontaneous abortion by copy number variation sequencing.

Bai W, Zhang Q, Lin Z, Ye J, Shen X, Zhou L, Cai W. Bai W, et al. Front Endocrinol (Lausanne). 2023 Oct 17;14:1218793. doi: 10.3389/fendo.2023.1218793. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37916154 Free PMC article.

7

Chromosome 1p36 candidate gene ZNF436 predicts the prognosis of neuroblastoma: a bioinformatic analysis.

Wang H, Wang X, Xu L. Wang H, et al. Ital J Pediatr. 2023 Oct 31;49(1):145. doi: 10.1186/s13052-023-01549-x. Ital J Pediatr. 2023. PMID: 37904225 Free PMC article.

8

Patient Brain Organoids Identify a Link between the 16p11.2 Copy Number Variant and the RBFOX1 Gene.

Kostic M, Raymond JJ, Freyre CAC, Henry B, Tumkaya T, Khlghatyan J, Dvornik J, Li J, Hsiao JS, Cheon SH, Chung J, Sun Y, Dolmetsch RE, Worringer KA, Ihry RJ. Kostic M, et al. ACS Chem Neurosci. 2023 Nov 15;14(22):3993-4012. doi: 10.1021/acschemneuro.3c00442. Epub 2023 Oct 30. ACS Chem Neurosci. 2023. PMID: 37903506 Free PMC article.

9

Perinatal Diagnosis and Management of a Case with Interrupted Aortic Arch, Pulmonary Valve Dysplasia and 22q11.2 Deletion: A Case Report.

Vlădăreanu R, Maier C, Tocariu R, Șerban M, Brătilă E. Vlădăreanu R, et al. Medicina (Kaunas). 2023 Oct 16;59(10):1838. doi: 10.3390/medicina59101838. Medicina (Kaunas). 2023. PMID: 37893556 Free PMC article.

10

Drugs prescribed for Phelan-McDermid syndrome differentially impact sensory behaviors in shank3 zebrafish models.

Kozol RA, Dallman JE. Kozol RA, et al. F1000Res. 2023 Sep 27;12:84. doi: 10.12688/f1000research.127830.2. eCollection 2023. F1000Res. 2023. PMID: 37868296 Free PMC article.

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