Zobrazeno 1 - 10
of 322
pro vyhledávání: '"17p13.3"'
Autor:
Bin Liang, Donghong Yu, Wantong Zhao, Yan Wang, Xiaoqing Wu, Lingji Chen, Na Lin, Hailong Huang, Liangpu Xu
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-10 (2022)
Abstract Background 17p13.3 microdeletions or microduplications (collectively known as copy number variants or CNVs) have been described in individuals with neurodevelopmental disorders. However, 17p13.3 CNVs were rarely reported in fetuses. This stu
Externí odkaz:
https://doaj.org/article/5d2b15058fab4d71b638c72a9029fcf9
Autor:
Naveenkumar Perumal, Ranjana K. Kanchan, David Doss, Noah Bastola, Pranita Atri, Ramakanth Chirravuri-Venkata, Ishwor Thapa, Raghupathy Vengoji, Shailendra K. Maurya, David Klinkebiel, Geoffrey A. Talmon, Mohd W. Nasser, Surinder K. Batra, Sidharth Mahapatra
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-19 (2021)
Abstract Haploinsufficiency of chromosome 17p and c-Myc amplification distinguish group 3 medulloblastomas which are associated with early metastasis, rapid recurrence, and swift mortality. Tumor suppressor genes on this locus have not been adequatel
Externí odkaz:
https://doaj.org/article/69e1273dd0ee4e588d50bef0ffca43ce
Publikováno v:
Human Pathology Reports, Vol 28, Iss , Pp 300612- (2022)
Endometrial stromal sarcoma (ESS) is a rare malignant neoplasm of endometrial stroma. High-grade ESS (HGESS) is aggressive and commonly relapses after surgical and neoadjuvant therapy. The abdomen and pelvis are common sites of metastasis, however, d
Externí odkaz:
https://doaj.org/article/059f20353fe1454485747e03597cd4c6
Autor:
Meriam Hadj Amor, Sarra Dimassi, Amel Taj, Wafa Slimani, Hanene Hannachi, Adnene Mlika, Khaled Ben Helel, Ali Saad, Soumaya Mougou-Zerelli
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-11 (2020)
Abstract Background While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few cases have been described
Externí odkaz:
https://doaj.org/article/6e8d2af9d0624869a30bede1b6354a49
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Chromosome 17p13.3 microduplication syndrome is considered a multisystem disorder that results in a wide variety of clinical manifestations including dysmorphic facial characteristics, brain structural malformations, developmental restriction, growth
Externí odkaz:
https://doaj.org/article/fd120122b02e45d68f82b1cf7c12c5a1
Autor:
Jorge Diogo Da Silva, Diana Gonzaga, Ana Barreta, Hildeberto Correia, Ana Maria Fortuna, Ana Rita Soares, Nataliya Tkachenko
Publikováno v:
Biomedicines, Vol 10, Iss 12, p 3078 (2022)
The chromosomal region 17p13.3 contains extensive repetitive sequences and is a well-recognized region of genomic instability. The 17p13.3 microduplication syndrome has been associated with a clinical spectrum of moderately non-specific phenotypes, i
Externí odkaz:
https://doaj.org/article/a8e47c6dc5bd430584c8a61275965039
Autor:
Chamara Sampath Paththinige, Nirmala Dushyanthi Sirisena, Fabienne Escande, Sylvie Manouvrier, Florence Petit, Vajira Harshadeva Weerabaddana Dissanayake
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)
Abstract Background Split hand/foot malformation (SHFM) is a group of congenital skeletal disorders which may occur either as an isolated abnormality or in syndromic forms with extra-limb manifestations. Chromosomal micro-duplication or micro-triplic
Externí odkaz:
https://doaj.org/article/60b743b3c30a4c4ab374106343dc21ce
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)
Abstract Background Split hand/foot malformation (SHFM) is a genetically heterogeneous limb malformation with variable expressivity. SHFM with tibia or femur aplasia is called SHFM with long bone deficiency (SHFLD). 17p13.3 duplications containing BH
Externí odkaz:
https://doaj.org/article/ffddab642e6c4e75ace3e60adec90147
Autor:
Chih-Ping Chen, Tsang-Ming Ko, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Chien-Wen Yang, Chen-Chi Lee, Wayseen Wang
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 57, Iss 1, Pp 128-132 (2018)
Objective: We present prenatal diagnosis and molecular cytogenetic characterization of 17p13.3 microdeletion encompassing YWHAE and CRK but not PAFAH1B1 in a fetus without ultrasound abnormalities. Case report: A 33-year-old woman underwent amniocent
Externí odkaz:
https://doaj.org/article/4a54141bf59640fa82c477024449811b
Publikováno v:
Brain Sciences, Vol 12, Iss 1, p 56 (2021)
The 17p13.3 chromosome region is often deleted or duplicated in humans, resulting in severe neurodevelopmental disorders such as Miller–Dieker syndrome (MDS) and 17p13.3 duplication syndrome. Lissencephaly can also be caused by gene mutations or de
Externí odkaz:
https://doaj.org/article/c7ba11bb3f2540a0a10e30625e601fea