Works matching IS 17558166 AND DT 2019 AND VI 12 AND IP 1

Results: 55

Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13039-019-0465-x

By:

Yang, Yang;
Hao, Wang

Publication type:

Article

Laundering CNV data for candidate process prioritization in brain disorders.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13039-019-0468-7

By:

Zelenova, Maria A.;
Yurov, Yuri B.;
Vorsanova, Svetlana G.;
Iourov, Ivan Y.

Publication type:

Article

A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13039-019-0464-y

By:

Zhao, Ganye;
Dai, Peng;
Gao, Shanshan;
Zhao, Xuechao;
Wang, Conghui;
Liu, Lina;
Kong, Xiangdong

Publication type:

Article

The variome concept: focus on CNVariome.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13039-019-0467-8

By:

Iourov, Ivan Y.;
Vorsanova, Svetlana G.;
Yurov, Yuri B.

Publication type:

Article

A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13039-019-0463-z

By:

Hu, Xuyun;
Liu, Jun;
Guo, Ruolan;
Guo, Jun;
Zhao, Zhipeng;
Li, Wei;
Xu, Baoping;
Hao, Chanjuan

Publication type:

Article

A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13039-019-0461-1

By:

Zhuang, Jianlong;
Wang, Yuanbai;
Zeng, Shuhong;
Lv, Chunling;
Lin, Yiming;
Jiang, Yuying

Publication type:

Article

Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0462-0

By:

Su, Jiasun;
Fu, Huayu;
Xie, Bobo;
Lu, Weiliang;
Li, Wei;
Wei, Yuan;
Zhang, Qiang;
Wei, Shengkai;
Chen, Qiuli;
Lu, Yingchi;
Jiang, Tingting;
Luo, Jingsi;
Qin, Zailong

Publication type:

Article

Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0459-8

By:

Koumbaris, George;
Achilleos, Achilleas;
Nicolaou, Michalis;
Loizides, Charalambos;
Tsangaras, Kyriakos;
Kypri, Elena;
Mina, Petros;
Sismani, Carolina;
Velissariou, Voula;
Christopoulou, Georgia;
Constantoulakis, Pantelis;
Manolakos, Emmanouil;
Papoulidis, Ioannis;
Stambouli, Danai;
Ioannides, Marios;
Patsalis, Philippos

Publication type:

Article

Jumping translocations of chromosome 1q occurring by a multi-stage process in an acute myeloid leukemia progressed from myelodysplastic syndrome with a TET2 mutation.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0460-2

By:

Lee, Ina;
Gudipati, Mary A.;
Waters, Elizabeth;
Duong, Vu H.;
Baer, Maria R.;
Zou, Ying

Publication type:

Article

Nonclonal chromosomal alterations and poor survival in cytopenic patients without hematological malignancies.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0458-9

By:

Imataki, Osamu;
Kubo, Hiroyuki;
Takeuchi, Akihiro;
Uemura, Makiko;
Kadowaki, Norimitsu

Publication type:

Article

Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0457-x

By:

Dai, Rulin;
Yu, Yang;
Xi, Qi;
Hu, Xiaonan;
Zhu, Haibo;
Liu, Ruizhi;
Wang, Ruixue

Publication type:

Article

Molecular cytogenetic analysis and genetic counseling: a case report of eight 46,XX males and a literature review.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0456-y

By:

Yue, Fagui;
Zhang, Hongguo;
Xi, Qi;
Jiang, Yuting;
Li, Leilei;
Liu, Ruizhi;
Wang, Ruixue

Publication type:

Article

Stable transmission of complex chromosomal rearrangements involving chromosome 1q derived from constitutional chromoanagenesis.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0455-z

By:

Gudipati, Mary A.;
Waters, Elizabeth;
Greene, Carol;
Goel, Nidhi;
Hoppman, Nicole L.;
Pitel, Beth A.;
Webley, Matthew R.;
Zou, Ying

Publication type:

Article

Rare cytogenetic abnormalities and their clinical relevance in pediatric acute leukemia of Saudi Arabian population.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0454-0

By:

Alkhayat, Nawaf;
Elyamany, Ghaleb;
Elborai, Yasser;
Sedick, Qanita;
Alshahrani, Mohammad;
Al Sharif, Omar;
Alenezy, Abdulmalik;
Hammdan, Amjad;
Elghezal, Hatem;
Alsuhaibani, Omar;
Aljabry, Mansour S.;
AlMoshary, May;
Al Mussaed, Eman

Publication type:

Article

C-banding and AgNOR-staining were still effective complementary methods to indentify chromosomal heteromorphisms and some structural abnormalities in prenatal diagnosis.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0453-1

By:

Zhu, Jian Jiang;
Qi, Hong;
Cai, Li Rong;
Wen, Xiao Hui;
Zeng, Wen;
Tang, Guo Dong;
Luo, Yao;
Meng, Ran;
Mao, Xue Qun;
Zhang, Shao Qin

Publication type:

Article

Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity test.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0446-0

By:

Kypri, Elena;
Ioannides, Marios;
Touvana, Evi;
Neophytou, Ioanna;
Mina, Petros;
Velissariou, Voula;
Vittas, Spiros;
Santana, Alfredo;
Alexidis, Filippos;
Tsangaras, Kyriakos;
Achilleos, Achilleas;
Patsalis, Philippos;
Koumbaris, George

Publication type:

Article

Genetic analysis of products of conception using a HLPA/SNP-array strategy.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0452-2

By:

Mao, Jun;
Wang, Huiling;
Li, Haibo;
Song, Xiaoyan;
Wang, Ting;
Xiang, Jingjing;
Li, Hong

Publication type:

Article

Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0449-x

By:

Wang, Ting;
Ren, Congmian;
Chen, Dan;
Lu, Jian;
Guo, Li;
Zheng, Laiping;
Liu, Yuan;
Chen, Hanbiao

Publication type:

Article

Transgenerational telomere erosion in the monogametic sex: human telomeres progressively erode in the female germline and do not lengthen in aged testes.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0450-4

By:

Stindl, Reinhard

Publication type:

Article

Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0438-0

By:

Fernández-Hernández, Liliana;
Navarro-Cobos, María José;
Alcántara-Ortigoza, Miguel Angel;
Ramos-Ángeles, Sandra Elena;
Molina-Álvarez, Bertha;
Díaz-Cuéllar, Sinhué;
Asch-Daich, Bárbara;
González-del Angel, Ariadna

Publication type:

Article

Submicroscopic aberrations of chromosome 16 in prenatal diagnosis.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0448-y

By:

Wu, Xiaoqing;
Xu, Liangpu;
Li, Ying;
Lin, Na;
Su, Linjuan;
Cai, Meiying;
Xie, Xiaorui;
Zheng, Lin;
Huang, Hailong;
Lin, Yuan

Publication type:

Article

Non-invasive prenatal testing reveals copy number variations related to pregnancy complications.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0451-3

By:

Wu, Guangping;
Li, Rong;
Tong, Chao;
He, Miaonan;
Qi, Zhiwei;
Chen, Huijuan;
Deng, Tao;
Liu, Hailiang;
Qi, Hongbo

Publication type:

Article

Head and neck cancer: searching for genomic and epigenetic biomarkers in body fluids – the state of art.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0447-z

By:

Ribeiro, Ilda Patrícia;
de Melo, Joana Barbosa;
Carreira, Isabel Marques

Publication type:

Article

Detection of a balanced translocation carrier through trophectoderm biopsy analysis: a case report.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0444-2

By:

Tšuiko, Olga;
Dmitrijeva, Tuuli;
Kask, Katrin;
Tammur, Pille;
Tõnisson, Neeme;
Salumets, Andres;
Jatsenko, Tatjana

Publication type:

Article

One-fits-all pretreatment protocol facilitating Fluorescence In Situ Hybridization on formalin-fixed paraffin-embedded, fresh frozen and cytological slides.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0442-4

By:

Richardson, Shivanand O.;
Huibers, Manon M. H.;
de Weger, Roel A.;
de Leng, Wendy W. J.;
Hinrichs, John W. J.;
Meijers, Ruud W. J.;
Willems, Stefan M.;
Peeters, Ton L. M. G.

Publication type:

Article

Abstracts of the 12<sup>th</sup> European Cytogenomics Conference 2019: Salzburg, Austria. 6-9 July 2019.

Published in:: 2019
Publication type:: Calendar

Non-invasive prenatal testing to detect chromosome aneuploidies in 57,204 pregnancies.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0441-5

By:

Xue, Ying;
Zhao, Guodong;
Li, Hong;
Zhang, Qin;
Lu, Jiafeng;
Yu, Bin;
Wang, Ting

Publication type:

Article

Genome reorganization in different cancer types: detection of cancer specific breakpoint regions.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0435-3

By:

Standfuß, Christoph;
Parczyk, Jonas;
Ruhnau, Jerome;
Klein, Andreas

Publication type:

Article

A case of acute promyelocytic leukemia variant with derivative chromosome 3 der(3)t(3;8) associated with 8q partial gain.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0445-1

By:

Nozza, Filomena;
Vona, Gabriella;
Trino, Stefania;
D'Auria, Fiorella;
La Rocca, Francesco;
Grieco, Vitina;
Possidente, Luciana;
De Luca, Luciana;
Musto, Pellegrino

Publication type:

Article

Is an analysis of copy number variants necessary for various types of kidney ultrasound anomalies in fetuses?

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0443-3

By:

Lin, Shaobin;
Shi, Shanshan;
Huang, Linhuan;
Lei, Ting;
Cai, Danlei;
Hu, Wenlong;
Zhou, Yi;
Luo, Yanmin

Publication type:

Article

A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0440-6

By:

Restaldi, Fabrizia;
Alesi, Viola;
Aquilani, Angela;
Genovese, Silvia;
Russo, Serena;
Coletti, Valentina;
Pompili, Daniele;
Falasca, Roberto;
Dallapiccola, Bruno;
Capolino, Rossella;
Luciani, Matteo;
Novelli, Antonio

Publication type:

Article

Chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0437-1

By:

Lin, Chen-Zhao;
Qi, Bi-Ru;
Hu, Jian-Su;
Huang, Yu-Dian;
Huang, Xiu-Qiong

Publication type:

Article

Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0414-8

By:

Slimani, Wafa;
Ben Khelifa, Hela;
Dimassi, Sarra;
Chioukh, Fatma-Zohra;
Jelloul, Afef;
Kammoun, Molka;
Hannachi, Hanene;
Bouslah, Sarra;
Jammali, Nesrine;
Sanlaville, Damien;
Saad, Ali;
Mougou-Zerelli, Soumaya

Publication type:

Article

Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0436-2

By:

Altıner, Şule;
Yürür Kutlay, Nüket

Publication type:

Article

Clinical experience with multiplex ligation-dependent probe amplification for microdeletion syndromes in prenatal diagnosis: 7522 pregnant Korean women.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0422-8

By:

Lee, Dongsook;
Na, Sohyun;
Park, Surim;
Go, Sanghee;
Ma, Jinyoung;
Yang, Soonha;
Kim, Kichul;
Lee, Seunggwan;
Hwang, Doyeong

Publication type:

Article

Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0420-x

By:

Liu, Chang;
Zhang, Xiangzhong;
Wang, Jicheng;
Zhang, Yan;
Wang, Anshi;
Lu, Jian;
Huang, Yanlin;
Liu, Shu;
Wu, Jing;
Du, Li;
Yang, Jie;
Ding, Hongke;
Liu, Ling;
Zhao, Xin;
Yin, Aihua

Publication type:

Article

Chromoanagenesis: cataclysms behind complex chromosomal rearrangements.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0415-7

By:

Pellestor, Franck

Publication type:

Article

Deletions in the 17q chromosomal region and their influence on the clonal cytogenetic evolution of recurrent meningiomas.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0434-4

By:

Hemmer, Sina;
Urbschat, Steffi;
Oertel, Joachim;
Ketter, Ralf

Publication type:

Article

First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0432-6

By:

Alsagob, Maysoon;
Salih, Mustafa A.;
Hamad, Muddathir H. A.;
Al-Yafee, Yusra;
Al-Zahrani, Jawaher;
Al-Bakheet, Albandary;
Nester, Michael;
Sakati, Nadia;
Wakil, Salma M.;
AlOdaib, Ali;
Colak, Dilek;
Kaya, Namik

Publication type:

Article

Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0431-7

By:

Wan, Shanning;
Zheng, Yunyun;
Dang, Yinghui;
Song, Tingting;
Chen, Biliang;
Zhang, Jianfang

Publication type:

Article

Clinical and molecular cytogenetic characterization of a novel 10q interstitial deletion: a case report and review of the literature.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0430-8

By:

Herriges, John C.;
Dugan, Sarah L.;
Lamb, Allen N.

Publication type:

Article

Analysis of copy number variations induced by ultrashort electron beam radiation in human leukocytes in vitro.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0433-5

By:

Harutyunyan, Tigran;
Hovhannisyan, Galina;
Sargsyan, Anzhela;
Grigoryan, Bagrat;
Al-Rikabi, Ahmed H.;
Weise, Anja;
Liehr, Thomas;
Aroutiounian, Rouben

Publication type:

Article

The emerging links between chromosomal instability (CIN), metastasis, inflammation and tumour immunity.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0429-1

By:

Tijhuis, Andréa E.;
Johnson, Sarah C.;
McClelland, Sarah E.

Publication type:

Article

Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0427-3

By:

Cheng, Xiaofei;
Yang, Qifang;
Liu, Jun;
Ye, Juan;
Xiao, Huiying;
Zhang, Gaimei;
Pan, Yuanyuan;
Li, Xia;
Hao, Ruifeng;
Li, Yinfeng

Publication type:

Article

The karyotype of Aegilops geniculata and its use to identify both addition and substitution lines of wheat.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0428-2

By:

Yi, Yingjin;
Zheng, Ke;
Ning, Shunzong;
Zhao, Laibin;
Xu, Kai;
Hao, Ming;
Zhang, Lianquan;
Yuan, Zhongwei;
Liu, Dengcai

Publication type:

Article

Cell maps on the human genome.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0426-4

By:

Cherniak, Christopher;
Rodriguez-Esteban, Raul

Publication type:

Article

Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0425-5

By:

Xue, Huili;
Huang, Hailong;
Wang, Yan;
An, Gang;
Zhang, Min;
Xu, Liangpu;
Lin, Yuan

Publication type:

Article

Analytical validation and chromosomal distribution of regions of homozygosity by oligonucleotide array comparative genomic hybridization from normal prenatal and postnatal case series.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0424-6

By:

Wen, Jiadi;
Comerford, Kathleen;
Xu, Zhiyong;
Wu, Weiqing;
Amato, Katherine;
Grommisch, Brittany;
DiAdamo, Autumn;
Xu, Fang;
Chai, Hongyan;
Li, Peining

Publication type:

Article

Analysis of meiotic segregation modes in biopsied blastocysts from preimplantation genetic testing cycles of reciprocal translocations.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0423-7

By:

Wang, Jie;
Li, Dong;
Xu, Zhipeng;
Diao, Zhenyu;
Zhou, Jianjun;
Lin, Fei;
Zhang, Ningyuan

Publication type:

Article

Combined use of bacterial artificial chromosomes-on-beads with karyotype detection improves prenatal diagnosis.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0416-6

By:

Miao, Zhengyou;
Liu, Xia;
Hu, Furong;
Zhang, Ming;
Yang, Pingli;
Wang, Luming

Publication type:

Article