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A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome.
Socha M, Szoszkiewicz A, Simon D, Jamsheer A. Socha M, et al. Among authors: jamsheer a. J Appl Genet. 2023 Feb;64(1):125-134. doi: 10.1007/s13353-022-00743-7. Epub 2022 Dec 31. J Appl Genet. 2023. PMID: 36586055 Free PMC article. Review.
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.
Tayebi N, Jamsheer A, Flöttmann R, Sowinska-Seidler A, Doelken SC, Oehl-Jaschkowitz B, Hülsemann W, Habenicht R, Klopocki E, Mundlos S, Spielmann M. Tayebi N, et al. Among authors: jamsheer a. Orphanet J Rare Dis. 2014 Jul 29;9:108. doi: 10.1186/s13023-014-0108-6. Orphanet J Rare Dis. 2014. PMID: 25231166 Free PMC article.
Prenatal diagnosis of craniosynostosis (compound Saethre-Chotzen syndrome phenotype) caused by a de novo complex chromosomal rearrangement (1; 4; 7) with a microdeletion of 7p21.3-7p15.3, including TWIST1 gene--a case report.
Massalska D, Bijok J, Kucińska-Chahwan A, Jamsheer A, Bogdanowicz J, Jakiel G, Roszkowski T. Massalska D, et al. Among authors: jamsheer a. Ginekol Pol. 2014 Jul;85(7):541-4. doi: 10.17772/gp/1768. Ginekol Pol. 2014. PMID: 25118508
MIA is a potential biomarker for tumour load in neurofibromatosis type 1.
Kolanczyk M, Mautner V, Kossler N, Nguyen R, Kühnisch J, Zemojtel T, Jamsheer A, Wegener E, Thurisch B, Tinschert S, Holtkamp N, Park SJ, Birch P, Kendler D, Harder A, Mundlos S, Kluwe L. Kolanczyk M, et al. Among authors: jamsheer a. BMC Med. 2011 Jul 4;9:82. doi: 10.1186/1741-7015-9-82. BMC Med. 2011. PMID: 21726432 Free PMC article.
100 results