Molecular cytogenetics

Keyphrases

Publications

volume 17, number 1, 2024

Anhui Liu, Liyuan Zhou, Yazhou Huang, Dan Peng
Analysis of copy number variants detected by sequencing in spontaneous abortion. Molecular cytogenetics 17 (1) (2024)
Zhifang Peng, Renqi Yang, Qing Liu, Binbin Chen, Panpan Long
X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature. Molecular cytogenetics 17 (1) (2024)
Giulia Vitetta, Laura Desiderio, Ilaria Baccolini, Vera Uliana, Giulia Lanzoni, Tullio Ghi, Gianluigi Pilu, Enrico Ambrosini, Patrizia Caggiati, Valeria Barili, Anna Carmela Trotta, Maria Rosaria Liuti, Elisabetta Malpezzi, Maria Carla Pittalis, Antonio Percesepe
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. Molecular cytogenetics 17 (1) (2024)
Ingrid Bendas Feres Lima, Lúcia de Fátima Marques de Moraes, Carlos Roberto da Fonseca, Juan Clinton Llerena Junior, Mana Mehrjouy, Niels Tommerup, Elenice Ferreira Bastos
Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption? Molecular cytogenetics 17 (1) (2024)
Chenxia Xu, Miaoyuan Li, Tiancai Gu, Fenghua Xie, Yanfang Zhang, Degang Wang, Jianming Peng
Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study. Molecular cytogenetics 17 (1) (2024)
Anhui Liu, Liyuan Zhou, Yazhou Huang, Dan Peng
Analysis of copy number variants detected by sequencing in spontaneous abortion. Molecular cytogenetics 17 (1) (2024)
Ye Shi, Fang-Xiu Zheng, Jing Wang, Qin Zhou, Ying-Ping Chen, Bin Zhang
Noninvasive prenatal testing for the detection of fetal chromosome 17 microduplication: clinical implications and findings. Molecular cytogenetics 17 (1) (2024)
Ye Shi, Fang-Xiu Zheng, Jing Wang, Qin Zhou, Ying-Ping Chen, Bin Zhang
Noninvasive prenatal testing for the detection of fetal chromosome 17 microduplication: clinical implications and findings. Molecular cytogenetics 17 (1) (2024)
Yuqi Shao, Saisai Yang, Lin Cheng, Jie Duan, Jin Li, Jiawei Kang, Fang Wang, Juan Liu, Fang Zheng, Jianhong Ma, Yuanzhen Zhang
Identification of chromosomal abnormalities in miscarriages by CNV-Seq. Molecular cytogenetics 17 (1) (2024)
Yuqi Shao, Saisai Yang, Lin Cheng, Jie Duan, Jin Li, Jiawei Kang, Fang Wang, Juan Liu, Fang Zheng, Jianhong Ma, Yuanzhen Zhang
Identification of chromosomal abnormalities in miscarriages by CNV-Seq. Molecular cytogenetics 17 (1) (2024)
Grecia C Olivera-Bernal, Marlon De Ita-Ley, Edgar F Ricárdez-Marcial, Luz María Garduño-Zarazúa, Ángel Ricardo González-Cuevas, Omar A Sepúlveda-Robles, Juan Carlos Huicochea-Montiel, Alan Cárdenas-Conejo, Laura Santana-Díaz, Haydeé Rosas-Vargas
Cytogenomic description of a Mexican cohort with differences in sex development. Molecular cytogenetics 17 (1) (2024)
Yan Jiang, Yang Xue Xiao, Jiao Jiao Xiong, Victor Wei Zhang, Chang Dong, Lei Xu, Fang Liu
Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review. Molecular cytogenetics 17 (1) (2024)
Grecia C Olivera-Bernal, Marlon De Ita-Ley, Edgar F Ricárdez-Marcial, Luz María Garduño-Zarazúa, Ángel Ricardo González-Cuevas, Omar A Sepúlveda-Robles, Juan Carlos Huicochea-Montiel, Alan Cárdenas-Conejo, Laura Santana-Díaz, Haydeé Rosas-Vargas
Cytogenomic description of a Mexican cohort with differences in sex development. Molecular cytogenetics 17 (1) (2024)
Libuse Lizcova, Eva Prihodova, Lenka Pavlistova, Karla Svobodova, Ester Mejstrikova, Ondrej Hrusak, Pavla Luknarova, Iveta Janotova, Lucie Sramkova, Jan Stary, Zuzana Zemanova
Cytogenomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals TCR rearrangements as predictive factors for exceptional prognosis. Molecular cytogenetics 17 (1) (2024)
Ingrid Bendas Feres Lima, Lúcia de Fátima Marques de Moraes, Carlos Roberto da Fonseca, Juan Clinton Llerena Junior, Mana Mehrjouy, Niels Tommerup, Elenice Ferreira Bastos
Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption? Molecular cytogenetics 17 (1) (2024)
Ye Shi, Fang-Xiu Zheng, Jing Wang, Qin Zhou, Ying-Ping Chen, Bin Zhang
Noninvasive prenatal testing for the detection of fetal chromosome 17 microduplication: clinical implications and findings. Molecular cytogenetics 17 (1) (2024)
Ye Shi, Fang-Xiu Zheng, Jing Wang, Qin Zhou, Ying-Ping Chen, Bin Zhang
Noninvasive prenatal testing for the detection of fetal chromosome 17 microduplication: clinical implications and findings. Molecular cytogenetics 17 (1) (2024)
Giulia Vitetta, Laura Desiderio, Ilaria Baccolini, Vera Uliana, Giulia Lanzoni, Tullio Ghi, Gianluigi Pilu, Enrico Ambrosini, Patrizia Caggiati, Valeria Barili, Anna Carmela Trotta, Maria Rosaria Liuti, Elisabetta Malpezzi, Maria Carla Pittalis, Antonio Percesepe
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. Molecular cytogenetics 17 (1) (2024)
Xuezhen Wang, Jing Sha, Yu Han, Min Pang, Min Liu, Mengna Liu, Bei Zhang, Jingfang Zhai
Efficiency of copy number variation sequencing combined with karyotyping in fetuses with congenital heart disease and the following outcomes. Molecular cytogenetics 17 (1) (2024)
Asmaa K Amin, Jeremias Krause, Thomas Eggermann
11p13 microduplication: a differential diagnosis of Silver-Russell syndrome? Molecular cytogenetics 17 (1) (2024)
L N Kolbasin, T A Dubrovskaya, G B Salnikova, E N Solovieva, M Yu Donnikov, R A Illarionov, A S Glotov, L V Kovalenko, L D Belotserkovtseva
Family case of Potocki-Lupski syndrome. Molecular cytogenetics 17 (1) (2024)
Yuqi Shao, Saisai Yang, Lin Cheng, Jie Duan, Jin Li, Jiawei Kang, Fang Wang, Juan Liu, Fang Zheng, Jianhong Ma, Yuanzhen Zhang
Identification of chromosomal abnormalities in miscarriages by CNV-Seq. Molecular cytogenetics 17 (1) (2024)
L N Kolbasin, T A Dubrovskaya, G B Salnikova, E N Solovieva, M Yu Donnikov, R A Illarionov, A S Glotov, L V Kovalenko, L D Belotserkovtseva
Family case of Potocki-Lupski syndrome. Molecular cytogenetics 17 (1) (2024)
Shaobin Lin, Shanshan Shi, Jian Lu, Zhiming He, Danlun Li, Linhuan Huang, Xuan Huang, Yi Zhou, Yanmin Luo
Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study. Molecular cytogenetics 17 (1) (2024)
Shaobin Lin, Shanshan Shi, Jian Lu, Zhiming He, Danlun Li, Linhuan Huang, Xuan Huang, Yi Zhou, Yanmin Luo
Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study. Molecular cytogenetics 17 (1) (2024)
Juan Pablo Meza-Espinoza, Juan Ramón González-García, Nayeli Nieto-Marín, Liliana Itzel Patrón-Baro, Rosa María González-Arreola, Eliakym Arámbula-Meraz, Julio Benítez-Pascual, Alberto Kousuke De la Herrán-Arita, Claudia Desireé Norzagaray-Valenzuela, Marco Antonio Valdez-Flores, Tomás Adrián Carrillo-Cázares, Verónica Judith Picos-Cárdenas
Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report. Molecular cytogenetics 17 (1) (2024)
Yan Jiang, Yang Xue Xiao, Jiao Jiao Xiong, Victor Wei Zhang, Chang Dong, Lei Xu, Fang Liu
Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review. Molecular cytogenetics 17 (1) (2024)
Juan Pablo Meza-Espinoza, Juan Ramón González-García, Nayeli Nieto-Marín, Liliana Itzel Patrón-Baro, Rosa María González-Arreola, Eliakym Arámbula-Meraz, Julio Benítez-Pascual, Alberto Kousuke De la Herrán-Arita, Claudia Desireé Norzagaray-Valenzuela, Marco Antonio Valdez-Flores, Tomás Adrián Carrillo-Cázares, Verónica Judith Picos-Cárdenas
Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report. Molecular cytogenetics 17 (1) (2024)
Grecia C Olivera-Bernal, Marlon De Ita-Ley, Edgar F Ricárdez-Marcial, Luz María Garduño-Zarazúa, Ángel Ricardo González-Cuevas, Omar A Sepúlveda-Robles, Juan Carlos Huicochea-Montiel, Alan Cárdenas-Conejo, Laura Santana-Díaz, Haydeé Rosas-Vargas
Cytogenomic description of a Mexican cohort with differences in sex development. Molecular cytogenetics 17 (1) (2024)
Juan Pablo Meza-Espinoza, Juan Ramón González-García, Nayeli Nieto-Marín, Liliana Itzel Patrón-Baro, Rosa María González-Arreola, Eliakym Arámbula-Meraz, Julio Benítez-Pascual, Alberto Kousuke De la Herrán-Arita, Claudia Desireé Norzagaray-Valenzuela, Marco Antonio Valdez-Flores, Tomás Adrián Carrillo-Cázares, Verónica Judith Picos-Cárdenas
Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report. Molecular cytogenetics 17 (1) (2024)
Libuse Lizcova, Eva Prihodova, Lenka Pavlistova, Karla Svobodova, Ester Mejstrikova, Ondrej Hrusak, Pavla Luknarova, Iveta Janotova, Lucie Sramkova, Jan Stary, Zuzana Zemanova
Cytogenomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals TCR rearrangements as predictive factors for exceptional prognosis. Molecular cytogenetics 17 (1) (2024)
Libuse Lizcova, Eva Prihodova, Lenka Pavlistova, Karla Svobodova, Ester Mejstrikova, Ondrej Hrusak, Pavla Luknarova, Iveta Janotova, Lucie Sramkova, Jan Stary, Zuzana Zemanova
Cytogenomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals TCR rearrangements as predictive factors for exceptional prognosis. Molecular cytogenetics 17 (1) (2024)
Anhui Liu, Liyuan Zhou, Yazhou Huang, Dan Peng
Analysis of copy number variants detected by sequencing in spontaneous abortion. Molecular cytogenetics 17 (1) (2024)
Jing-Wen Li, Yan-Jie Qian, Shao-Jia Mao, Yun-Qi Chao, Yi-Fang Qin, Chen-Xi Hu, Zheng-Lan Li, Chao Chun Zou
Clinical features associated with maternal uniparental disomy for chromosome 6. Molecular cytogenetics 17 (1) (2024)
William Lautert-Dutra, Camila M Melo, Luiz P Chaves, Cheryl Crozier, Fabiano P Saggioro, Rodolfo B Dos Reis, Jane Bayani, Sandro L Bonatto, Jeremy A Squire
Loss of heterozygosity impacts MHC expression on the immune microenvironment in CDK12-mutated prostate cancer. Molecular cytogenetics 17 (1) (2024)
William Lautert-Dutra, Camila M Melo, Luiz P Chaves, Cheryl Crozier, Fabiano P Saggioro, Rodolfo B Dos Reis, Jane Bayani, Sandro L Bonatto, Jeremy A Squire
Loss of heterozygosity impacts MHC expression on the immune microenvironment in CDK12-mutated prostate cancer. Molecular cytogenetics 17 (1) (2024)
Erica Soster, Tamara Mossfield, Melody Menezes, Gloudi Agenbag, Marie-Line Dubois, Jean Gekas, Tristan Hardy, Kelly Loggenberg, null null
Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium. Molecular cytogenetics 17 (1) (2024)
Xuezhen Wang, Jing Sha, Yu Han, Min Pang, Min Liu, Mengna Liu, Bei Zhang, Jingfang Zhai
Efficiency of copy number variation sequencing combined with karyotyping in fetuses with congenital heart disease and the following outcomes. Molecular cytogenetics 17 (1) (2024)
Erica Soster, Tamara Mossfield, Melody Menezes, Gloudi Agenbag, Marie-Line Dubois, Jean Gekas, Tristan Hardy, Kelly Loggenberg, null null
Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium. Molecular cytogenetics 17 (1) (2024)
Erica Soster, Tamara Mossfield, Melody Menezes, Gloudi Agenbag, Marie-Line Dubois, Jean Gekas, Tristan Hardy, Kelly Loggenberg, null null
Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium. Molecular cytogenetics 17 (1) (2024)
Giulia Vitetta, Laura Desiderio, Ilaria Baccolini, Vera Uliana, Giulia Lanzoni, Tullio Ghi, Gianluigi Pilu, Enrico Ambrosini, Patrizia Caggiati, Valeria Barili, Anna Carmela Trotta, Maria Rosaria Liuti, Elisabetta Malpezzi, Maria Carla Pittalis, Antonio Percesepe
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. Molecular cytogenetics 17 (1) (2024)
Jing-Wen Li, Yan-Jie Qian, Shao-Jia Mao, Yun-Qi Chao, Yi-Fang Qin, Chen-Xi Hu, Zheng-Lan Li, Chao Chun Zou
Clinical features associated with maternal uniparental disomy for chromosome 6. Molecular cytogenetics 17 (1) (2024)
Asmaa K Amin, Jeremias Krause, Thomas Eggermann
11p13 microduplication: a differential diagnosis of Silver-Russell syndrome? Molecular cytogenetics 17 (1) (2024)
Asmaa K Amin, Jeremias Krause, Thomas Eggermann
11p13 microduplication: a differential diagnosis of Silver-Russell syndrome? Molecular cytogenetics 17 (1) (2024)
Stephanie A Balow, Alyxis G Coyan, Nicki Smith, Bianca E Russell, Danielle Monteil, Robert J Hopkin, Teresa A Smolarek
Complex genomic rearrangements of the Y chromosome in a premature infant. Molecular cytogenetics 17 (1) (2024)
Jing-Wen Li, Yan-Jie Qian, Shao-Jia Mao, Yun-Qi Chao, Yi-Fang Qin, Chen-Xi Hu, Zheng-Lan Li, Chao Chun Zou
Clinical features associated with maternal uniparental disomy for chromosome 6. Molecular cytogenetics 17 (1) (2024)
Zhifang Peng, Renqi Yang, Qing Liu, Binbin Chen, Panpan Long
X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature. Molecular cytogenetics 17 (1) (2024)
Chenxia Xu, Miaoyuan Li, Tiancai Gu, Fenghua Xie, Yanfang Zhang, Degang Wang, Jianming Peng
Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study. Molecular cytogenetics 17 (1) (2024)
Shaobin Lin, Shanshan Shi, Jian Lu, Zhiming He, Danlun Li, Linhuan Huang, Xuan Huang, Yi Zhou, Yanmin Luo
Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study. Molecular cytogenetics 17 (1) (2024)
Yan Jiang, Yang Xue Xiao, Jiao Jiao Xiong, Victor Wei Zhang, Chang Dong, Lei Xu, Fang Liu
Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review. Molecular cytogenetics 17 (1) (2024)