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Molecular Cytogenetics

IF1.4
论文数43
被引数869
期刊论文 43
发表时间
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Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 5p13.3p13.2 microduplication in a Chinese family父系遗传的5p13.3p13.2微重复在中国家庭中的产前诊断与遗传咨询
deleteMolecular Cytogenetics
IF1.4
delete2026-05-17
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PREAI
deleteWang, Wei; Zhan, Lin; Xu, Lu; Leng, Pei
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Chromosomal abnormalities and copy number variations in fetuses with ventriculomegaly: a multicenter retrospective study胎儿脑室扩张患儿的染色体异常及拷贝数变异：一项多中心回顾性研究
deleteMolecular Cytogenetics
IF1.4
delete2026-05-01
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PREAI
deleteNguyen, Anh Huu Duc; Tran, Phan Duc; Dinh, Phuc Hong; Dao, Trang Thi; Nguyen, Ngoc Thi Minh; Luong, Anh Thi Lan; Hoang, Lan Thi Ngoc; Doan, Phuong Thi Kim; Mai, Hung Trong; Dinh, Linh Thuy; Pham, Vuong The; Phan, Giang Thi Thu; Bui, Thang Duc; Tran, Linh Thuy; Tran, Cuong Danh
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Optical genome mapping uncovers disease-defining variants in an adult T-lymphoblastic leukemia and impacts prognosis光学基因组图谱揭示成人T淋巴母细胞白血病的疾病定义变异并影响预后
deleteMolecular Cytogenetics
IF1.4
delete2026-05-01
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PREAI
deleteMaxfield, Amanda M.; Bickford, Michelle A.; Tonseth, Kyle A.; Bao, Jing; Murad, Farzana; Wilson, Devon N.; Wainman, Lauren M.; Hill, John M.; Donnelly, Liam L.; Kaur, Prabhjot; Tafe, Laura J.; Karrs, Jeremiah X.; Khan, Wahab A.
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A ten-year follow up case report on monochorionic dizygotic twins with confined blood chimerism of 47,XY,+21/46,XX对具有47,XY,+21/46,XX限制性血嵌合体的单绒毛膜双胎的十年随访病例报告
deleteMolecular Cytogenetics
IF1.4
delete2026-04-28
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PREAI
deleteShen, Mengjie; Ren, Huaying; Chen, Ting; Chen, Ke
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Prenatal diagnosis, genetic analysis, and pregnancy outcomes of fetuses with mosaic isodicentric Y chromosomes产前诊断、基因分析与嵌合型串联Y染色体胎儿的妊娠结局
deleteMolecular Cytogenetics
IF1.4
delete2026-04-27
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deleteGao, Tieli; Wei, Hua; Zheng, Yawen; Xiao, Ying; Zheng, Moling; Hong, Shurong
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Disheveled associated activator of morphogenesis 2 variants may produce alport-like changes: a case report失序相关形态发生激活剂2变体可能产生阿尔波特样改变：病例报告
deleteMolecular Cytogenetics
IF1.4
delete2026-04-24
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deleteYang, Danhua; Chen, Han; Fan, Zhenliang; Fan, Junfen
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Antenatal discovery of mosaic trisomy 14 in an early-onset malformative syndrome产前发现早期发病畸形综合征中的嵌合体14号染色体三体
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IF1.4
delete2026-04-24
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deleteMartineau, Romain; Fuchs, Florent; Lamouroux, Audrey; Ganne, Benjamin; Wells, Constance
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Prenatal diagnosis and follow-up of a child with mosaic tetrasomy 9p without obvious abnormal clinical manifestations产前诊断及随访：一例嵌合体9p四体症且无明显临床异常表现患儿
deleteMolecular Cytogenetics
IF1.4
delete2026-04-15
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deleteZhang, Lifang; Qian, Feiyan; Chen, Weiping; Fan, Jiaming; Zeng, Yan; Luo, Tingting; Che, Ming; Yu, Bin; Zhang, Tao
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Discrepant findings of prenatal diagnostics in a case of fetal partial trisomy 21 and fetoplacental mosaicism产前诊断在胎儿部分三体21和胎-胎盘嵌合症一例中的不一致发现
deleteMolecular Cytogenetics
IF1.4
delete2026-04-11
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deleteDittrich, T.; Wenzel, R.; Beck, A.; Dahlum, S.; Siebert, R.; Friebe-Hoffmann, U.; Bens, S.
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Genome-wide copy-number analysis improves detection of pathogenic AZFc and autosomal variants in idiopathic non-obstructive azoospermia全基因组拷贝数分析提高了对特发性非梗阻性无精子症中致病性AZFc和常染色体变异的检测
deleteMolecular Cytogenetics
IF1.4
delete2026-04-09
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deleteZagorac, Andreja; Kozar, Nejc; Zagradisnik, Boris; Reljic, Milan; Vokac, Nadja Kokalj
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Acquired pericentric inversion of der(9) with BCR and ABL1 codeletion in chronic myeloid leukemia: a rare cytogenetic finding from Mali慢性髓性白血病中der(9)伴BCR和ABL1共缺失的获得性着丝粒倒位：来自马里的罕见细胞遗传学发现
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delete2026-04-01
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deleteSamassekou, Oumar; Goita, Modibo K.; Ly, Madani; Bathily, Moussa; Ongoiba, Christine; Landoure, Guida; Traore, Mahamadou
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Identification a rare chromosomal translocation 45,X, der(Y;15)(q11.2;q11.2) in an azoospermic patient using C-MoKa使用C-MoKa技术鉴定一名无精子症患者中罕见的染色体易位 45,X, der(Y;15)(q11.2;q11.2)
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IF1.4
delete2026-03-01
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deleteDeng, Jia; Liu, Min; Liu, Xiaowen; Meng, Xianghe; Yang, Yuxia; Wang, Yimin; Zhou, Liyuan; Deng, Aimin; Liu, Jinhao
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Cytogenetic patterns of hematologic malignancies before, during and after the COVID-19 pandemic: a single-center retrospective study in Thailand血液恶性肿瘤在COVID-19大流行前后及期间的细胞遗传学模式：一项来自泰国的单中心回顾性研究
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delete2026-03-01
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deleteTansatit, Montakarn; Jongpornchai, Nutcharee; Songchart, Suwannee; Krajokpap, Kittipornpan; Da-oh, Hudadini
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Application of chromosomal microarray analysis for fetuses with nasal bone agenesis or hypoplasia对伴有鼻骨发育异常或发育不全胎儿的染色体微阵列分析应用
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delete2026-03-01
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deleteJin, Keqin; Xu, Xiayuan; Zhang, Jun; Qian, Yue; Yang, Yanfen; Shen, Shuangshuang; Hu, Min; Luo, Jianfeng; Li, Na
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Clinical and molecular characterization of 18p deletion syndrome and a novel case with reproductive disorder18p缺失综合征的临床与分子特征分析及1例伴有生殖障碍的新型病例
deleteMolecular Cytogenetics
IF1.4
delete2026-02-23
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deleteCheng, Xia; Xu, Liang; Wu, Jiatao; Zhang, Li; Wei, Xueting; Min, Shengping; Liao, Yaping
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Optical genome mapping reveals a recurrent translocation, t(14;16), in T/myeloid mixed phenotype acute leukemia: report of two cases光学基因组图谱揭示T/髓系混合表型急性白血病中存在t(14;16)易位：2例报告
deleteMolecular Cytogenetics
IF1.4
delete2026-02-22
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PREAI
deleteLum, Joanna; Anderson-Calleja, Jessica; Van Dine, Kimberly; Manion, Emily; Xiao, Hong; Perry, Anamarija M.; Boyer, Daniel; Shao, Lina
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A case report on atypical chromosomal variations in Turner syndrome特纳综合征中非典型染色体变异的病例报告
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IF1.4
delete2026-02-19
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deleteAliazami, Farnoush; Farhud, Dariush D.; Zarif-Yeganeh, Marjan; Shahmoradi, Shahrzad Sadat; Tajik, Bahareh; Jaryani, Somayeh
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Comprehensive analysis of copy number variations in congenital heart defects Tunisian patients: chromosomal microarray analysis insights先天性心脏病突尼斯患者拷贝数变异的全面分析：染色体微阵列分析的见解
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delete2026-02-14
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deleteKhelifi, Rim; Othmane, Houcemeddine; Ajmi, Houda; Slimani, Wafa; Bennour, Ayda; Dardour, Leila; Soyeh, Najla; Benzarti, Amira; Rjiba, Khouloud; Abdallah, Hamza Hadj; Rassass, Ahmed; Kooli, Rim; Mghirbi, Oussama; Kammoun, Molka; Khelifa, Hela Ben; Bahri, Farouk; Hayet, Mkaddem; Ammar, Aouina; Ghanmi, Sahbi; Mathlouthi, Jihene; Ben Hamida, Hayet; Habboul, Zakia; Kemis, Tarek; Kharrat, Habib; Hassine, Nadia; Tej, Amel; Bellalah, Manel; Chouikh, Fatma; Houssine, Mejaouel; Mahdhaoui, Abdallah; Kortas, Chokri; Guith, Aida; Maatouk, Faouzi; Naffeti, Elies; Soua, Habib; Gribaa, Moez; Saad, Ali; Mougou-Zerelli, Soumaya
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Clinical diagnosis and genetic analysis of a rare case of Duchenne muscular dystrophy and spinal muscular atrophy杜氏肌营养不良和脊髓性肌萎缩症一例罕见病例的临床诊断与遗传分析
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delete2026-02-14
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deleteLiu, Yingwen; Wang, Minmin; Zhang, Keji; Yan, Lulu; Chen, Changshui; Li, Haibo
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Prenatal diagnosis of distal Xq28 duplication syndrome: case reports and literature reviewXq28远端重复综合征的产前诊断：病例报告及文献综述
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delete2026-02-01
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deleteZhang, Yuanyuan; Yue, Fagui; Liu, Ruizhi
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