Works matching IS 17558166 AND DT 2024 AND VI 17 AND IP 1

Results: 33

Performance of cell free DNA as a screening tool based on the results of first trimester screening.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00702-3

By:

Motevasselian, Mahtab;
Omrani, Mohammad Amin;
Saleh Gargari, Soraya;
Younesi, Sarang;
Taheri Amin, Mohammad Mahdi;
Saadati, Pourandokht;
Jamali, Soudabeh;
Modarresi, Mohammad-Hossein;
Savad, Shahram;
Rahmani, Majid;
Amidi, Saloomeh;
Delshad, Saeed;
Navidpour, Fariba;
Chagheri, Samira;
Mohammadi, Yalda;
Khalilian, Sheyda;
Eslami, Solat;
Ghafouri-Fard, Soudeh

Publication type:

Article

Performance of cell free DNA as a screening tool based on the results of first trimester screening.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00702-3

By:

Motevasselian, Mahtab;
Omrani, Mohammad Amin;
Saleh Gargari, Soraya;
Younesi, Sarang;
Taheri Amin, Mohammad Mahdi;
Saadati, Pourandokht;
Jamali, Soudabeh;
Modarresi, Mohammad-Hossein;
Savad, Shahram;
Rahmani, Majid;
Amidi, Saloomeh;
Delshad, Saeed;
Navidpour, Fariba;
Chagheri, Samira;
Mohammadi, Yalda;
Khalilian, Sheyda;
Eslami, Solat;
Ghafouri-Fard, Soudeh

Publication type:

Article

Application of third-generation sequencing technology in the genetic testing of thalassemia.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00701-4

By:

Li, Weihao;
Ye, Yanchou

Publication type:

Article

Clinical and genomic profiling of a patient with a de novo ring chromosome 18: a case report highlighting autoimmune and neurological implications.

Published in:

2024

By:

Montanari, Annalaura;
Caforio, Paola;
Paparella, Annalisa;
Casieri, Paola;
Nuzzi, Maria Cristina;
Antonucci, Maria Fatima;
Catacchio, Claudia Rita;
Tampoia, Marilina;
Gentile, Mattia;
Bucci, Roberta;
Cecinati, Valerio;
Cellamare, Angelo;
Antonacci, Francesca

Publication type:

Case Study

Interstitial 11q deletion in a patient with Sprengel's deformity: a case report and review of the literature.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00695-z

By:

Ismail, Dhekra;
Kraoua, Lilia;
Jaillard, Sylvie;
Bellil, Hela;
Zairi, Mohamed;
Maazoul, Faouzi;
Mrad, Ridha;
Nessib, Mohamed Nabil;
Trabelsi, Mediha

Publication type:

Article

Correction: Insights into avian molecular cytogenetics—with reptilian comparisons.

Published in:

2024

By:

Griffin, Darren K.;
Kretschmer, Rafael;
Srikulnath, Kornsorn;
Singchat, Worapong;
O'Connor, Rebecca E.;
Romanov, Michael N.

Publication type:

Correction Notice

Precision oncology platforms: practical strategies for genomic database utilization in cancer treatment.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00698-w

By:

Gazola, Antonia A.;
Lautert-Dutra, William;
Archangelo, Leticia Frohlich;
Reis, Rodolfo B. dos;
Squire, Jeremy A.

Publication type:

Article

False-positive XXY results by interphase FISH in cytogenetically normal XX individuals: two cases highlighting the necessity of additional laboratory follow-up.

Published in:

2024

By:

Ding, Qiliang;
Bronson, Abigail L.;
Byerly, Kyna A.;
Essendrup, Anna A.;
Mitchell, Elyse B.;
Runke, Cassandra K.;
Rowsey, Ross A.;
Hoppman, Nicole L.

Publication type:

Case Study

Copy number variation heterogeneity reveals biological inconsistency in hierarchical cancer classifications.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00692-2

By:

Yang, Ziying;
Carrio-Cordo, Paula;
Baudis, Michael

Publication type:

Article

Insights into avian molecular cytogenetics—with reptilian comparisons.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00696-y

By:

Griffin, Darren K.;
Kretschmer, Rafael;
Srikulnath, Kornsorn;
Singchat, Worapong;
O'Connor, Rebecca E.;
Romanov, Michael N.

Publication type:

Article

X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00676-2

By:

Peng, Zhifang;
Yang, Renqi;
Liu, Qing;
Chen, Binbin;
Long, Panpan

Publication type:

Article

Correction: X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature.

Published in:

2024

By:

Peng, Zhifang;
Yang, Renqi;
Liu, Qing;
Chen, Binbin;
Long, Panpan

Publication type:

Correction Notice

Efficiency of copy number variation sequencing combined with karyotyping in fetuses with congenital heart disease and the following outcomes.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00681-5

By:

Wang, Xuezhen;
Sha, Jing;
Han, Yu;
Pang, Min;
Liu, Min;
Liu, Mengna;
Zhang, Bei;
Zhai, Jingfang

Publication type:

Article

Cytogenomic description of a Mexican cohort with differences in sex development.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00685-1

By:

Olivera-Bernal, Grecia C.;
De Ita-Ley, Marlon;
Ricárdez-Marcial, Edgar F.;
Garduño-Zarazúa, Luz María;
González-Cuevas, Ángel Ricardo;
Sepúlveda-Robles, Omar A.;
Huicochea-Montiel, Juan Carlos;
Cárdenas-Conejo, Alan;
Santana-Díaz, Laura;
Rosas-Vargas, Haydeé

Publication type:

Article

Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?

Published in:

2024

By:

Bendas Feres Lima, Ingrid;
Fátima Marques de Moraes, Lúcia de;
Roberto da Fonseca, Carlos;
Clinton Llerena Junior, Juan;
Mehrjouy, Mana;
Tommerup, Niels;
Ferreira Bastos, Elenice

Publication type:

Case Study

Detection of regions of homozygosity in an unusual case of frontonasal dysplasia.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00693-1

By:

Paz-y-Miño, César;
Vargas-Vera, Ramón Miguel;
Placencia-Ibadango, Martha Verónica;
Vargas-Silva, Kalid Stefano;
García-Hernández, Juan Luis;
Balarezo-Díaz, Thalía;
Leone, Paola E.

Publication type:

Article

Clinical features associated with maternal uniparental disomy for chromosome 6.

Published in:

2024

By:

Li, Jing-Wen;
Qian, Yan-Jie;
Mao, Shao-Jia;
Chao, Yun-Qi;
Qin, Yi-Fang;
Hu, Chen-Xi;
Li, Zheng-Lan;
Zou, Chao-Chun

Publication type:

Case Study

Prenatal diagnosis in fetal right aortic arch using chromosomal microarray analysis and whole exome sequencing: a Chinese single-center retrospective study.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00691-3

By:

Zhang, Lu;
Huang, Ruibin;
Zhou, Hang;
Lin, Xiaomei;
Guo, Fei;
Jing, Xiangyi;
Zhang, Yongling;
Li, Fucheng;
Li, Fatao;
Yu, Qiuxia;
Wang, Dan;
Chen, Guilan;
Fu, Fang;
Pan, Min;
Han, Jin;
Li, Dongzhi;
Li, Ru

Publication type:

Article

Higher prevalence of poor prognostic markers at a younger age in adult patients with myelodysplastic syndrome – evaluation of a large cohort in India.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00687-z

By:

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

Publication type:

Article

Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study.

Published in:

2024

By:

Zhuang, Jianlong;
Zhang, Na;
Fu, Wanyu;
Jiang, Yuying;
Chen, Yu'e;
Chen, Chunnuan

Publication type:

Case Study

Complex genomic rearrangements of the Y chromosome in a premature infant.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00689-x

By:

Balow, Stephanie A.;
Coyan, Alyxis G.;
Smith, Nicki;
Russell, Bianca E.;
Monteil, Danielle;
Hopkin, Robert J.;
Smolarek, Teresa A.

Publication type:

Article

Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00677-1

By:

Soster, Erica;
Mossfield, Tamara;
Menezes, Melody;
Agenbag, Gloudi;
Dubois, Marie-Line;
Gekas, Jean;
Hardy, Tristan;
Loggenberg, Kelly

Publication type:

Article

Cytogenomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals TCR rearrangements as predictive factors for exceptional prognosis.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00682-4

By:

Lizcova, Libuse;
Prihodova, Eva;
Pavlistova, Lenka;
Svobodova, Karla;
Mejstrikova, Ester;
Hrusak, Ondrej;
Luknarova, Pavla;
Janotova, Iveta;
Sramkova, Lucie;
Stary, Jan;
Zemanova, Zuzana

Publication type:

Article

Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00686-0

By:

Meza-Espinoza, Juan Pablo;
González-García, Juan Ramón;
Nieto-Marín, Nayeli;
Patrón-Baro, Liliana Itzel;
González-Arreola, Rosa María;
Arámbula-Meraz, Eliakym;
Benítez-Pascual, Julio;
De la Herrán-Arita, Alberto Kousuke;
Norzagaray-Valenzuela, Claudia Desireé;
Valdez-Flores, Marco Antonio;
Carrillo-Cázares, Tomás Adrián;
Picos-Cárdenas, Verónica Judith

Publication type:

Article

Loss of heterozygosity impacts MHC expression on the immune microenvironment in CDK12-mutated prostate cancer.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00680-6

By:

Lautert-Dutra, William;
M. Melo, Camila;
Chaves, Luiz P.;
Crozier, Cheryl;
P. Saggioro, Fabiano;
B. dos Reis, Rodolfo;
Bayani, Jane;
Bonatto, Sandro L.;
Squire, Jeremy A.

Publication type:

Article

Noninvasive prenatal testing for the detection of fetal chromosome 17 microduplication: clinical implications and findings.

Published in:

2024

By:

Shi, Ye;
Zheng, Fang-xiu;
Wang, Jing;
Zhou, Qin;
Chen, Ying-ping;
Zhang, Bin

Publication type:

Case Study

Identification of chromosomal abnormalities in miscarriages by CNV-Seq.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00671-7

By:

Shao, Yuqi;
Yang, Saisai;
Cheng, Lin;
Duan, Jie;
Li, Jin;
Kang, Jiawei;
Wang, Fang;
Liu, Juan;
Zheng, Fang;
Ma, Jianhong;
Zhang, Yuanzhen

Publication type:

Article

Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00675-3

By:

Vitetta, Giulia;
Desiderio, Laura;
Baccolini, Ilaria;
Uliana, Vera;
Lanzoni, Giulia;
Ghi, Tullio;
Pilu, Gianluigi;
Ambrosini, Enrico;
Caggiati, Patrizia;
Barili, Valeria;
Trotta, Anna Carmela;
Liuti, Maria Rosaria;
Malpezzi, Elisabetta;
Pittalis, Maria Carla;
Percesepe, Antonio

Publication type:

Article

X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00676-2

By:

Peng, Zhifang;
Yang, Renqi;
Liu, Qing;
Chen, Binbin;
Long, Panpan

Publication type:

Article

Family case of Potocki-Lupski syndrome.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00673-5

By:

Kolbasin, L. N.;
Dubrovskaya, T. A.;
Salnikova, G. B.;
Solovieva, E. N.;
Donnikov, M. Yu.;
Illarionov, R. A.;
Glotov, A. S.;
Kovalenko, L. V.;
Belotserkovtseva, L. D.

Publication type:

Article

11p13 microduplication: a differential diagnosis of Silver–Russell syndrome?

Published in:

2024

By:

Amin, Asmaa K.;
Krause, Jeremias;
Eggermann, Thomas

Publication type:

Case Study

Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-023-00664-y

By:

Lin, Shaobin;
Shi, Shanshan;
Lu, Jian;
He, Zhiming;
Li, Danlun;
Huang, Linhuan;
Huang, Xuan;
Zhou, Yi;
Luo, Yanmin

Publication type:

Article

Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review.

Published in:

2024

By:

Jiang, Yan;
Xiao, Yang Xue;
Xiong, Jiao Jiao;
Zhang, Victor Wei;
Dong, Chang;
Xu, Lei;
Liu, Fang

Publication type:

Case Study