Works matching IS 17558166 AND DT 2023 AND VI 16 AND IP 1

Results: 37

Characteristics and clinical evaluation of X chromosome translocations.

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00669-7

By:

Huang, Ning;
Zhou, Jihui;
Lu, Wan;
Luo, Laipeng;
Yuan, Huizhen;
Pan, Lu;
Ding, Shujun;
Yang, Bicheng;
Liu, Yanqiu

Publication type:

Article

Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses.

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00667-9

By:

Qin, Shengfang;
Wang, Xueyan;
Wang, Jin;
Xi, Na;
Yan, Mengjia;
He, Yuxia;
Ye, Mengling;
Zhang, Zhuo;
Yin, Yan

Publication type:

Article

Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere.

Published in:

2023

By:

van der Laan, Liselot;
Hoekman, Daniel R.;
Wortelboer, Esther J.;
Mannens, Marcel M. A. M.;
Kooper, Angelique J. A.

Publication type:

Case Study

Delineation of an inverted tandem Xq23-26.3 duplication in a female featuring extremely short stature and mild mental deficiency.

Published in:

2023

By:

Qin, Shengfang;
Zeng, Jiuzhi;
Wang, Jin;
Ye, Mengling;
Deng, Qin;
Wang, Xueyan;
Zhang, Zhuo;
Yi, Dangying;
Wu, Yang;
Li-Ling, Jesse

Publication type:

Case Study

Delineation of an inverted tandem Xq23-26.3 duplication in a female featuring extremely short stature and mild mental deficiency.

Published in:

2023

By:

Qin, Shengfang;
Zeng, Jiuzhi;
Wang, Jin;
Ye, Mengling;
Deng, Qin;
Wang, Xueyan;
Zhang, Zhuo;
Yi, Dangying;
Wu, Yang;
Li-Ling, Jesse

Publication type:

Case Study

Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement.

Published in:

2023

By:

Lanceta, Joel;
Tripodi, Joseph;
Karp, Lynne;
Shaham, Meira;
Mahmood, Nayyara;
Najfeld, Vesna;
Edelman, Morris;
Cohen, Ninette

Publication type:

Case Study

Cytogenomic features of Richter transformation.

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00662-0

By:

Woroniecka, Renata;
Rymkiewicz, Grzegorz;
Bystydzienski, Zbigniew;
Pienkowska-Grela, Barbara;
Rygier, Jolanta;
Malawska, Natalia;
Wojtkowska, Katarzyna;
Goral, Nikolina;
Blachnio, Katarzyna;
Chmielewski, Marcin;
Bartnik-Glaska, Magdalena;
Grygalewicz, Beata

Publication type:

Article

Prenatal diagnosis and perinatal outcomes of twin pregnancies disharmonious for one fetus with nuchal translucency above the 95th percentile.

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00659-9

By:

Wang, You;
Zhou, Hang;
Fu, Fang;
Cheng, Ken;
Huang, Ruibin;
Li, Ru;
Li, Dongzhi;
Liao, Can

Publication type:

Article

Application of non-invasive prenatal testing in screening chromosomal aberrations in pregnancies with different nuchal translucency cutoffs.

Published in:

2023

By:

Xu, Yong;
Hu, Siqi;
Chen, Liyuan;
Hao, Ying;
Zhang, Hu;
Xu, Zhiyong;
Wu, Weiqing;
Deng, Liyanyan

Publication type:

Case Study

Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family.

Published in:

2023

By:

Wang, Yanan;
Zhang, Pai;
Chai, Yuqiong;
Zang, Weiwei

Publication type:

Case Study

Prenatal diagnosis of Down syndrome combined with transient abnormal myelopoiesis in foetuses with a GATA1 gene variant: two case reports.

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00658-w

By:

Tang, Hui;
Hu, Jingjing;
Liu, Ling;
Lv, Lijuan;
Lu, Jian;
Yang, Jiexia;
Lu, Jiaqi;
Chen, Zhenhui;
Yang, Chaoxiang;
Chen, Dan;
Fu, Jintao;
Wu, Jing

Publication type:

Article

What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping?

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00657-x

By:

van Zutven, Laura J. C. M.;
Mijalkovic, Jona;
van Veghel-Plandsoen, Monique;
Goense, Margaret;
Polak, Marike;
Knapen, Maarten F. C. M.;
de Weerd, Sabina;
Joosten, Marieke;
Diderich, Karin E. M.;
Hoefsloot, Lies H.;
Van Opstal, Diane;
Srebniak, Malgorzata I.

Publication type:

Article

Application of non-invasive prenatal testing to 91,280 spontaneous pregnancies and 3477 pregnancies conceived by in vitro fertilization.

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00656-y

By:

Wei, Rong;
Li, Jingran;
Xia, Yuanyuan;
Wang, Chaohong;
Lu, Xinran;
Fang, Yuqin;
Zhu, Jiansheng

Publication type:

Article

Cytogenetic profile of 1791 adult acute myeloid leukemia in India.

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00653-1

By:

Srivastava, Vivi M.;
Nair, Sukesh Chandran;
Sappani, Marimuthu;
Manipadam, Marie-Therese;
Kulkarni, Uday P.;
Devasia, Anup J.;
Fouzia, N. A.;
Korula, Anu;
Lakshmi, Kavitha M.;
Abraham, Aby;
Srivastava, Alok

Publication type:

Article

Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis.

Published in:

2023

By:

Yang, Yang;
Hao, Wang

Publication type:

Case Study

Prenatal diagnosis and early childhood outcome of fetuses with extremely large nuchal translucency.

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00650-4

By:

Zhou, Hang;
Yang, Xin;
Yi, CuiXing;
Zhong, Huizhu;
Yuan, Simin;
Pan, Min;
Li, Dongzhi;
Liao, Can

Publication type:

Article

A de novo mutation of ADAMTS8 in a patient with Wiedemann–Steiner syndrome.

Published in:

2023

By:

Wang, Sifeng;
Yan, Shuyuan;
Xiao, Jingjun;
Chen, Ying;
Chen, Anji;
Deng, Aimin;
Wang, Tuanmei;
He, Jun;
Peng, Xiangwen

Publication type:

Case Study

Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction.

Published in:

2023

By:

Tan, Xuemei;
Liu, Bailing;
Yan, Tizhen;
Wei, Xiaobao;
Qin, Yanfeng;
Zeng, Dingyuan;
Yuan, Dejian

Publication type:

Case Study

A novel approach for direct detection of the IGH::CRLF2 gene fusion by fluorescent in situ hybridization.

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00652-2

By:

González-Arreola, Rosa María;
García-Romero, Adriana;
Magaña-Torres, María Teresa;
González-García, Juan Ramón

Publication type:

Article

Identification of a novel isolated 4q35.2 microdeletion in a Chinese pediatric patient using chromosomal microarray analysis: a case report and literature review.

Published in:

2023

By:

Zhuang, Jianlong;
Liu, Shufen;
Chen, Xinying;
Jiang, Yuying;
Chen, Chunnuan

Publication type:

Case Study

Investigating residual leukemic cells in acute lymphoblastic leukemia: a practical approach using a streamlined interphase fluorescence in situ hybridization method on cerebrospinal fluid.

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00649-x

By:

Karapetyan, Knarik;
Gizhlaryan, Mane;
Kalinovskaia, Olga;
Hovhannisyan, Anna;
Tadevosyan, Gohar;
Matinyan, Lilit;
Tamamyan, Gevorg;
Ghazaryan, Narine

Publication type:

Article

Two cases of placental trisomy 21 mosaicism causing false-negative NIPT results.

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00643-3

By:

Zhao, Qinfei;
Chen, Jing;
Ren, Ling;
Zhang, Huijuan;
Liu, Dedong;
Xi, Xuxiang;
Wu, Xiangsheng;
Fang, Chunyun;
Ye, Ping;
Zeng, Shaoying;
Zhong, Tianyu

Publication type:

Article

17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation.

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00644-2

By:

Sahajpal, Nikhil Shri;
Jeffrey, David H. F.;
DuPont, Barbara R.;
Hilton, Benjamin

Publication type:

Article

Characteristics and mechanisms of mosaicism in prenatal diagnosis cases by application of SNP array.

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00648-y

By:

Zhou, Lili;
Li, Huanzheng;
Xu, Chenyang;
Xu, Xueqin;
Zheng, Zhaoke;
Tang, Shaohua

Publication type:

Article

Genome-wide detection of CNV regions between Anqing six-end-white and Duroc pigs.

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00646-0

By:

Qian, Rong;
Xie, Fei;
Zhang, Wei;
Kong, JuanJuan;
Zhou, Xueli;
Wang, Chonglong;
Li, Xiaojin

Publication type:

Article

BCR::ABL1-like acute lymphoblastic leukaemia: a single institution experience on identification of potentially therapeutic targetable cases.

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00645-1

By:

Płotka, Anna;
Przybyłowicz-Chalecka, Anna;
Korolczuk, Maria;
Kanduła, Zuzanna;
Ratajczak, Błażej;
Kiernicka-Parulska, Jolanta;
Mierzwa, Anna;
Godziewska, Katarzyna;
Jarmuż-Szymczak, Małgorzata;
Gil, Lidia;
Lewandowski, Krzysztof

Publication type:

Article

Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype–phenotype correlations.

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00640-6

By:

Zhang, Liyu;
Tie, Xiaoling;
Che, Fengyu;
Wang, Guoxia;
Ge, Ying;
Li, Benchang;
Yang, Ying

Publication type:

Article

Laboratory performance of genome-wide cfDNA for copy number variants as compared to prenatal microarray.

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00642-4

By:

Soster, Erica;
Tynan, John;
Gibbons, Clare;
Meschino, Wendy;
Wardrop, Jenna;
Almasri, Eyad;
Schwartz, Stuart;
McLennan, Graham

Publication type:

Article

Preimplantation genetic testing for Aicardi–Goutières syndrome induced by novel compound heterozygous mutations of TREX1: an unaffected live birth.

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00641-5

By:

Xu, Huiling;
Pu, Jiajie;
Lin, Suiling;
Hu, Rui;
Yao, Jilong;
Li, Xuemei

Publication type:

Article

Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene.

Published in:

2023

By:

Alexandrou, Angelos;
Salameh, Nicole;
Papaevripidou, Ioannis;
Nicolaou, Nayia;
Myrianthopoulos, Panayiotis;
Ketoni, Andria;
Kousoulidou, Ludmila;
Anastasiou, Anna-Maria;
Evangelidou, Paola;
Tanteles, George A.;
Sismani, Carolina

Publication type:

Case Study

Comprehensive analysis of three female patients with different types of X/Y translocations and literature review.

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00639-z

By:

Liu, Shanquan;
Zheng, Jiemei;
Liu, Xijing;
Lai, Yi;
Zhang, Xuan;
He, Tiantian;
Yang, Yan;
Wang, He;
Zhang, Xuemei

Publication type:

Article

Population monitoring of trisomy 21: problems and approaches.

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00637-1

By:

Sperling, Karl;
Scherb, Hagen;
Neitzel, Heidemarie

Publication type:

Article

Identification of complex and cryptic chromosomal rearrangements by optical genome mapping.

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00636-2

By:

Shi, Shanshan;
Huang, Peizhi;
Yan, Ruiling;
Li, Ruiman

Publication type:

Article

Cytogenetic culture failure and its causes in hematological disorders; a single centre perspective.

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-022-00635-9

By:

Javed, Sarah;
Hassan, Jawad;
Naz, Maliha;
Shan, Saira;
Abid, Madiha;
Shamsi, Tahir Sultan

Publication type:

Article

Prenatal diagnosis of ultrasound soft markers in a single medical center of mainland China.

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-022-00633-x

By:

Zhou, Yanhong;
Wu, Siqi;
Han, Jin;
Zhen, Li;
Yang, Xin;
Li, Ru;
Zhang, Yongling;
Jing, Xiangyi;
Li, Fucheng;
Liu, Huishu

Publication type:

Article

Frequent copy number variants in a cohort of Mexican-Mestizo individuals.

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-022-00631-z

By:

Sánchez, Silvia;
Juárez, Ulises;
Domínguez, Julieta;
Molina, Bertha;
Barrientos, Rehotbevely;
Martínez-Hernández, Angélica;
Carnevale, Alessandra;
Grether-González, Patricia;
Mayen, Dora Gilda;
Villarroel, Camilo;
Lieberman, Esther;
Yokoyama, Emiy;
Del Castillo, Victoria;
Torres, Leda;
Frias, Sara

Publication type:

Article

Cytogenomic epileptology.

Published in:

Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-022-00634-w

By:

Iourov, Ivan Y.;
Gerasimov, Alexandr P.;
Zelenova, Maria A.;
Ivanova, Natalya E.;
Kurinnaia, Oksana S.;
Zabrodskaya, Yulia M.;
Demidova, Irina A.;
Barantsevich, Evgeny R.;
Vasin, Kirill S.;
Kolotii, Alexey D.;
Ushanov, Vseslav V.;
Sitovskaya, Darya A.;
Lobzhanidze, Timur B.-A.;
Iuditskaia, Maria E.;
Iakushev, Nikita S.;
Zhumatov, Muslim M.;
Vorsanova, Svetlana G.;
Samochernyh, Konstantin A.

Publication type:

Article