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Quoted phrase not found in phrase index: "Chromosome 2p16.3 deletion syndrome"
Page 1
Prenatal Diagnosis and Molecular Cytogenetic Characterization of Copy Number Variations on 4p15.2p16.3, Xp22.31, and 12p11.1q11 in a Fetus with Ultrasound Anomalies: A Case Report and Literature Review.
Zhang H, Xi Q, Liu X, Yue F, Zhang H, Sun M, Liu R. Zhang H, et al. Biomed Res Int. 2020 May 27;2020:1761738. doi: 10.1155/2020/1761738. eCollection 2020. Biomed Res Int. 2020. PMID: 32566663 Free PMC article. Review.
Chromosomal rearrangements, such as duplications/deletions, can lead to a variety of genetic disorders. ...However, the chromosomal microarray analysis (CMA) identified a 22.4 Mb duplication in chromosome 4p16.3p15.2, a 3.96 Mb microduplication in 12p1 …
Chromosomal rearrangements, such as duplications/deletions, can lead to a variety of genetic disorders. ...However, the chr …
Phenotypic spectrum of NRXN1 mono- and bi-allelic deficiency: A systematic review.
Castronovo P, Baccarin M, Ricciardello A, Picinelli C, Tomaiuolo P, Cucinotta F, Frittoli M, Lintas C, Sacco R, Persico AM. Castronovo P, et al. Clin Genet. 2020 Jan;97(1):125-137. doi: 10.1111/cge.13537. Epub 2019 May 7. Clin Genet. 2020. PMID: 30873608
They are encoded by three genes (NRXN1-3), each yielding a longer alpha (alpha) and a shorter beta (beta) transcript. Deletions spanning the promoter and the initial exons of the NRXN1 gene, located in chromosome 2p16.3, are associated with a va …
They are encoded by three genes (NRXN1-3), each yielding a longer alpha (alpha) and a shorter beta (beta) transcript. Deletions spann …
Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1.
Wallis M, Tsurusaki Y, Burgess T, Borzi P, Matsumoto N, Miyake N, True D, Patel C. Wallis M, et al. Am J Med Genet A. 2016 Mar;170(3):717-24. doi: 10.1002/ajmg.a.37478. Epub 2015 Nov 21. Am J Med Genet A. 2016. PMID: 26590955
The atypical features of HFGS present were bilateral hallux valgus malformations and bilateral preaxial polydactyly of the hands. Chromosomal microarray analysis identified a de novo 0.5 Mb deletion at 2p16.3, including the first four exons of the NRXN …
The atypical features of HFGS present were bilateral hallux valgus malformations and bilateral preaxial polydactyly of the hands. Chromos …
Penetrance for copy number variants associated with schizophrenia.
Vassos E, Collier DA, Holden S, Patch C, Rujescu D, St Clair D, Lewis CM. Vassos E, et al. Hum Mol Genet. 2010 Sep 1;19(17):3477-81. doi: 10.1093/hmg/ddq259. Epub 2010 Jun 29. Hum Mol Genet. 2010. PMID: 20587603
To facilitate this process, we estimated the penetrance of CNVs associated with schizophrenia, at 15q13.3, 1q21.1, 15q11.2, 17p12, 2p16.3, 16p13.1 and 16p11.2 with a novel Bayesian method applied to pooled data from published case-control studies. For these CNVs, pe …
To facilitate this process, we estimated the penetrance of CNVs associated with schizophrenia, at 15q13.3, 1q21.1, 15q11.2, 17p12, 2p16 …