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1997 1
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Page 1
A familial deletion of 10p12.1 associated with thrombocytopenia.
Manohar S, Gofin Y, Streff H, Vossaert L, Camacho P, Murali CN. Manohar S, et al. Am J Med Genet A. 2024 Jan;194(1):77-81. doi: 10.1002/ajmg.a.63403. Epub 2023 Sep 25. Am J Med Genet A. 2024. PMID: 37746810
Exome sequencing in the man revealed a 1006 kb maternally inherited deletion in the 10p12.1 region (arr[GRCh37] 10p12.1(27378928_28384564)x1) of uncertain clinical significance. ...
Exome sequencing in the man revealed a 1006 kb maternally inherited deletion in the 10p12.1 region (arr[GRCh37] 10p12. …
10p12.1 deletion: HDR phenotype without DGS2 features.
Benetti E, Murer L, Bordugo A, Andreetta B, Artifoni L. Benetti E, et al. Exp Mol Pathol. 2009 Feb;86(1):74-6. doi: 10.1016/j.yexmp.2008.10.003. Epub 2008 Oct 31. Exp Mol Pathol. 2009. PMID: 19022243
We report the case of a girl with a terminal deletion of the short arm of chromosome 10 (10p12.1-pter), including both HDR locus and the DiGeorge critical region 2 (DGCR2), with HDR phenotype but not DiGeorge syndrome 2 features. ...
We report the case of a girl with a terminal deletion of the short arm of chromosome 10 (10p12.1-pter), including both HDR loc …
Phenotypic comparison of patients affected with DeSanto-Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC.
Toledo-Gotor C, García-Muro C, García-Oguiza A, Poch-Olivé ML, Ruiz-Del Prado MY, Domínguez-Garrido E. Toledo-Gotor C, et al. Mol Genet Genomic Med. 2022 May;10(5):e1910. doi: 10.1002/mgg3.1910. Epub 2022 Mar 10. Mol Genet Genomic Med. 2022. PMID: 35266333 Free PMC article.
INTRODUCTION: DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder caused by loss-of-function variants of WAC, located on chromosome 10p12.1. This syndrome is characterized by dysmorphic facial features, intellectual disability, and behavioral problems. .. …
INTRODUCTION: DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder caused by loss-of-function variants of WAC, located on chromoso …
A novel gene for neonatal diabetes maps to chromosome 10p12.1-p13.
Sellick GS, Garrett C, Houlston RS. Sellick GS, et al. Diabetes. 2003 Oct;52(10):2636-8. doi: 10.2337/diabetes.52.10.2636. Diabetes. 2003. PMID: 14514650
A region of homozygosity harboring the neonatal diabetes disease gene on chromosome 10p12.1-p13 was identified (multipoint logarithm of odds score 3.25). There is a strong history of type 2 diabetes in carriers of the disease gene. It is likely that chromosome 10 …
A region of homozygosity harboring the neonatal diabetes disease gene on chromosome 10p12.1-p13 was identified (multipoint log …
Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases.
Vyas H, Alcheikh A, Lowe G, Stevenson WS, Morgan NV, Rabbolini DJ. Vyas H, et al. Platelets. 2022 Nov 17;33(8):1107-1112. doi: 10.1080/09537104.2022.2071853. Epub 2022 May 19. Platelets. 2022. PMID: 35587581 Free PMC article. Review.
ANKRD26 is a highly conserved gene located on chromosome 10p12.1 which has shown to play a role in normal megakaryocyte differentiation. ...
ANKRD26 is a highly conserved gene located on chromosome 10p12.1 which has shown to play a role in normal megakaryocyte differ …
Genetic Regulation of Cytokine Response in Patients with Acute Community-Acquired Pneumonia.
Kühnapfel A, Horn K, Klotz U, Kiehntopf M, Rosolowski M, Loeffler M, Ahnert P, Suttorp N, Witzenrath M, Scholz M. Kühnapfel A, et al. Genes (Basel). 2022 Jan 6;13(1):111. doi: 10.3390/genes13010111. Genes (Basel). 2022. PMID: 35052452 Free PMC article.
The most interesting associations were found at 6p21.1 for VEGF (p = 1.58 10(-20)), at 17q21.32 (p = 1.51 10(-9)) and at 10p12.1 (p = 2.76 10(-9)) for IL-1beta, at 10p13 for MIP-1alpha (CCL3) (p = 2.28 10(-9)), and at 9q34.12 for IL-10 (p = 4.52 10(-8)). ...
The most interesting associations were found at 6p21.1 for VEGF (p = 1.58 10(-20)), at 17q21.32 (p = 1.51 10(-9)) and at 10p12.1 …
Clinical feature of infertile men carrying balanced translocations involving chromosome 10: Case series and a review of the literature.
Zhang H, Wang R, Li L, Jiang Y, Zhang H, Liu R. Zhang H, et al. Medicine (Baltimore). 2018 Apr;97(15):e0452. doi: 10.1097/MD.0000000000010452. Medicine (Baltimore). 2018. PMID: 29642220 Free PMC article. Review.
Breakpoints at 10p15.1, 10p12, 10q10, 10q22.1, 10q24.2, and 10q26.3 were linked to pregestational infertility; breakpoints at 10p12.1, 10q11, 10q21.2, and 10q23.3 were associated with gestational infertility; the other breakpoints were connected with both forms of i …
Breakpoints at 10p15.1, 10p12, 10q10, 10q22.1, 10q24.2, and 10q26.3 were linked to pregestational infertility; breakpoints at 10p12. …
Leukemic conversion involving RAS mutations of type 1 CALR-mutated primary myelofibrosis in a patient treated for HCV cirrhosis: a case report.
Gurban P, Mambet C, Botezatu A, Necula LG, Neagu AI, Matei L, Pitica IM, Nedeianu S, Chivu-Economescu M, Bleotu C, Ataman M, Mocanu G, Saguna C, Pavel AG, Stambouli D, Sepulchre E, Anton G, Diaconu CC, Constantinescu SN. Gurban P, et al. Front Oncol. 2023 Sep 29;13:1266996. doi: 10.3389/fonc.2023.1266996. eCollection 2023. Front Oncol. 2023. PMID: 37841434 Free PMC article.
SNP microarray analysis showed five clinically significant copy number losses at regions 7q22.1, 8q11.1-q11.21, 10p12.1-p11.22, 11p14.1-p11.2, and Xp11.4, revealing a complex karyotype already in the chronic phase. ...
SNP microarray analysis showed five clinically significant copy number losses at regions 7q22.1, 8q11.1-q11.21, 10p12.1-p11.22 …
Genome-wide association study identifies multiple susceptibility loci for multiple myeloma.
Mitchell JS, Li N, Weinhold N, Försti A, Ali M, van Duin M, Thorleifsson G, Johnson DC, Chen B, Halvarsson BM, Gudbjartsson DF, Kuiper R, Stephens OW, Bertsch U, Broderick P, Campo C, Einsele H, Gregory WA, Gullberg U, Henrion M, Hillengass J, Hoffmann P, Jackson GH, Johnsson E, Jöud M, Kristinsson SY, Lenhoff S, Lenive O, Mellqvist UH, Migliorini G, Nahi H, Nelander S, Nickel J, Nöthen MM, Rafnar T, Ross FM, da Silva Filho MI, Swaminathan B, Thomsen H, Turesson I, Vangsted A, Vogel U, Waage A, Walker BA, Wihlborg AK, Broyl A, Davies FE, Thorsteinsdottir U, Langer C, Hansson M, Kaiser M, Sonneveld P, Stefansson K, Morgan GJ, Goldschmidt H, Hemminki K, Nilsson B, Houlston RS. Mitchell JS, et al. Nat Commun. 2016 Jul 1;7:12050. doi: 10.1038/ncomms12050. Nat Commun. 2016. PMID: 27363682 Free PMC article.
We confirm all nine known risk loci and discover eight new loci at 6p22.3 (rs34229995, P=1.31 10(-8)), 6q21 (rs9372120, P=9.09 10(-15)), 7q36.1 (rs7781265, P=9.71 10(-9)), 8q24.21 (rs1948915, P=4.20 10(-11)), 9p21.3 (rs2811710, P=1.72 10(-13)), 10p12.1 (rs2790457, P …
We confirm all nine known risk loci and discover eight new loci at 6p22.3 (rs34229995, P=1.31 10(-8)), 6q21 (rs9372120, P=9.09 10(-15)), 7q3 …
25 results