Works matching IS 17558166 AND DT 2018 AND VI 11

Results: 62

Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0410-4

By:

Schnabel, Franziska;
Smogavec, Mateja;
Pauli, Silke;
Burfeind, Peter;
Bartels, Iris;
Funke, Rudolf

Publication type:

Article

The decision on the embryo to transfer after Preimplantation Genetic Diagnosis for X-autosome reciprocal translocation in male carrier.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0409-x

By:

Chamayou, Sandrine;
Sicali, Maria;
Lombardo, Debora;
Alecci, Carmelita;
Guglielmino, Antonino

Publication type:

Article

VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0412-2

By:

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

Publication type:

Article

Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report.

Published in:

2018

By:

Kerr, Elizabeth R.;
Stuhlmiller, Gary M.;
Maha, George C.;
Ladd, Mark A.;
Koester, Ruth P.;
Mikhail, Fady M.;
Hurst, Anna C. E.

Publication type:

Case Study

The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0407-z

By:

Li, Hongge;
Lei, Yu;
Zhu, Hui;
Luo, Yuqin;
Qian, Yeqing;
Chen, Min;
Sun, Yixi;
Yan, Kai;
Yang, Yanmei;
Liu, Bei;
Wang, Liya;
Huang, Yingzhi;
Hu, Junjie;
Xu, Jianyun;
Dong, Minyue

Publication type:

Article

Chromosomal abnormalities and copy number variations in fetal ventricular septal defects.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0408-y

By:

Cai, Meiying;
Huang, Hailong;
Su, Linjuan;
Lin, Na;
Wu, Xiaoqing;
Xie, Xiaorui;
An, Gang;
Li, Ying;
Lin, Yuan;
Xu, Liangpu;
Cao, Hua

Publication type:

Article

Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation.

Published in:

2018

By:

Mohamed, A. M.;
El-Bassyouni, H. T.;
El-Gerzawy, A. M.;
Hammad, S. A.;
Helmy, N. A.;
Kamel, A. K.;
Ismail, S. I.;
Issa, M. Y.;
Eid, O.;
Zaki, M. S.

Publication type:

Case Study

Rare gene fusion rearrangement SPTNB1-PDGFRB in an atypical myeloproliferative neoplasm.

Published in:

2018

By:

Furtado, Vanessa Fiorini;
Saini, Neeraj Y.;
Walsh, William;
Bathini, Venu;
Miron, Patricia M.

Publication type:

Case Study

Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0402-4

By:

Citli, Senol;
Ceylan, Ahmet Cevdet;
Erdem, Haktan Bagis;
Sahin, Ibrahim;
Acar Arslan, Elif;
Erdogan, Murat

Publication type:

Article

13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature.

Published in:

2018

By:

Bestetti, Ilaria;
Sironi, Alessandra;
Catusi, Ilaria;
Mariani, Milena;
Giardino, Daniela;
Manoukian, Siranoush;
Milani, Donatella;
Larizza, Lidia;
Castronovo, Chiara;
Finelli, Palma

Publication type:

Case Study

Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases.

Published in:

2018

By:

Conconi, Donatella;
Villa, Nicoletta;
Redaelli, Serena;
Sala, Elena;
Crosti, Francesca;
Maitz, Silva;
Rigoldi, Miriam;
Parini, Rossella;
Dalprà, Leda;
Lavitrano, Marialuisa;
Roversi, Gaia

Publication type:

Case Study

Chromosomes of Asian cyprinid fishes: cytogenetic analysis of two representatives of small paleotetraploid tribe Probarbini.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0399-8

By:

Saenjundaeng, Pasakorn;
de Bello Cioffi, Marcelo;
de Oliveira, Ezequiel Aguiar;
Tanomtong, Alongklod;
Supiwong, Weerayuth;
Phimphan, Sumalee;
Collares-Pereira, Maria João;
Sember, Alexandr;
Bertollo, Luiz Antonio Carlos;
Liehr, Thomas;
Yano, Cassia Fernanda;
Hatanaka, Terumi;
Ráb, Petr

Publication type:

Article

Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0394-0

By:

Sabatini, Peter J. B.;
Ejaz, Resham;
Stavropoulos, Dimitri J.;
Mendoza-Londono, Roberto;
Joseph-George, Ann M.

Publication type:

Article

Analysis of the accuracy of Z-scores of non-invasive prenatal testing for fetal Trisomies 13, 18, and 21 that employs the ion proton semiconductor sequencing platform.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0397-x

By:

Tian, Yuan;
Zhang, Linlin;
Tian, Weifang;
Gao, Jinshuang;
Jia, Liting;
Cui, Shihong

Publication type:

Article

CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year study.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0398-9

By:

García-Acero, Mary;
Suárez-Obando, Fernando;
Gómez-Gutiérrez, Alberto

Publication type:

Article

Recombinant chromosome 4 in two fetuses - case report and literature review.

Published in:

2018

By:

Wu, Yi;
Wang, Yanlin;
Wen, Shi Wu;
Zhao, Xinrong;
Hu, Wenjing;
Liu, Chunmin;
Gao, Li;
Zhang, Yan;
Wang, Shan;
Yang, Xingyu;
He, Biwei;
Cheng, Weiwei

Publication type:

Case Study

Performance of non-invasive prenatal testing for trisomies 21 and 18 in twin pregnancies.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0392-2

By:

Yang, Jiexia;
Qi, Yiming;
Hou, Yaping;
Guo, Fangfang;
Peng, Haishan;
Wang, Dongmei;
Haoxin, O. Y.;
Wang, Yixia;
Huang, Huajie;
Yin, Aihua

Publication type:

Article

Application of chromosomal microarray analysis in products of miscarriage.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0396-y

By:

Zhu, Xiangyu;
Li, Jie;
Zhu, Yujie;
Wang, Wanjun;
Wu, Xing;
Yang, Ying;
Gu, Leilei;
Gu, Yuanyuan;
Hu, Yali

Publication type:

Article

Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0395-z

By:

Karaman, Birsen;
Kayserili, Hülya;
Ghanbari, Asadollah;
Uyguner, Zehra Oya;
Toksoy, Güven;
Altunoglu, Umut;
Basaran, Seher

Publication type:

Article

Investigation of copy number variations on chromosome 21 detected by comparative genomic hybridization (CGH) microarray in patients with congenital anomalies.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0391-3

By:

Li, Wenfu;
Wang, Xianfu;
Li, Shibo

Publication type:

Article

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0390-4

By:

Su, Meng;
Benke, Paul J.;
Bademci, Guney;
Cengiz, Filiz Basak;
Ouyang, Xiaomei;
Peng, Jinghong;
Casas, Carmen E.;
Tekin, Mustafa;
Fan, Yao-Shan

Publication type:

Article

Submicroscopic chromosomal imbalances contribute to early abortion.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0386-0

By:

Li, Haibo;
Liu, Minjuan;
Xie, Min;
Zhang, Qin;
Xiang, Jingjing;
Duan, Chengying;
Ding, Yang;
Liu, Yinghua;
Mao, Jun;
Wang, Ting;
Li, Hong

Publication type:

Article

An uncommon t(9;11)(p24;q22) with monoallelic loss of <italic>ATM</italic> and <italic>KMT2A</italic> genes in a child with myelodysplastic syndrome/acute myeloid leukemia who evolved from Fanconi anemia.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0389-x

By:

Lovatel, Viviane Lamim;
de Souza, Daiane Corrêa;
Alvarenga, Tatiana Fonseca;
Capela de Matos, Roberto R.;
Diniz, Claudia;
Schramm, Marcia Trindade;
Llerena Júnior, Juan Clinton;
Silva, Maria Luiza Macedo;
Abdelhay, Eliana;
de Souza Fernandez, Teresa

Publication type:

Article

Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability.

Published in:

2018

By:

Lovrecic, Luca;
Gnan, Chiara;
Baldan, Federica;
Franzoni, Alessandra;
Bertok, Sara;
Damante, Giuseppe;
Isidor, Bertrand;
Peterlin, Borut

Publication type:

Case Study

Publisher Correction: Is DNA methylation the new guardian of the genome?

Published in:

2018

By:

Hoffman, Robert M.

Publication type:

Correction Notice

Yuri B. Yurov (1951-2017).

Published in:

2018

By:

Iourov, Ivan Y.;
Vorsanova, Svetlana G.

Publication type:

Obituary

A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3).

Published in:

2018

By:

Chen, Jun-Kun;
Liu, Ping;
Hu, Li-Qin;
Xie, Qing;
Huang, Quan-Fei;
Liu, Hai-Liang

Publication type:

Case Study

Characterization of chromosome composition of sugarcane in nobilization by using genomic in situ hybridization.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0387-z

By:

Yu, Fan;
Wang, Ping;
Li, Xueting;
Huang, Yongji;
Wang, Qinnan;
Luo, Ling;
Jing, Yanfen;
Liu, Xinlong;
Deng, Zuhu;
Wu, Jiayun;
Yang, Yongqing;
Chen, Rukai;
Zhang, Muqing;
Xu, Liangnian

Publication type:

Article

Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0384-2

By:

Aristidou, Constantia;
Theodosiou, Athina;
Ketoni, Andria;
Bak, Mads;
Mehrjouy, Mana M.;
Tommerup, Niels;
Sismani, Carolina

Publication type:

Article

Application of chromosomal microarray to investigate genetic causes of isolated fetal growth restriction.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0382-4

By:

An, Gang;
Lin, Yuan;
Xu, Liang Pu;
Huang, Hai Long;
Liu, Si Ping;
Yu, Yan Hong;
Yang, Fang

Publication type:

Article

An improved method for inducing prometaphase chromosomes in plants.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0380-6

By:

Setiawan, Agus Budi;
Teo, Chee How;
Kikuchi, Shinji;
Sassa, Hidenori;
Koba, Takato

Publication type:

Article

Understanding aneuploidy in cancer through the lens of system inheritance, fuzzy inheritance and emergence of new genome systems.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0376-2

By:

Ye, Christine J.;
Regan, Sarah;
Liu, Guo;
Alemara, Sarah;
Heng, Henry H.

Publication type:

Article

A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy – case report and review of the literature.

Published in:

2018

By:

Tesner, Pavel;
Drabova, Jana;
Stolfa, Miroslav;
Kudr, Martin;
Kyncl, Martin;
Moslerova, Veronika;
Novotna, Drahuse;
Kremlikova Pourova, Radka;
Kocarek, Eduard;
Rasplickova, Tereza;
Sedlacek, Zdenek;
Vlckova, Marketa

Publication type:

Case Study

Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics.

Published in:

2018

By:

Yokoyama, Emiy;
Del Castillo, Victoria;
Sánchez, Silvia;
Ramos, Sandra;
Molina, Bertha;
Torres, Leda;
Navarro, María José;
Avila, Silvia;
Castrillo, José Luis;
García-De Teresa, Benilde;
Asch, Bárbara;
Frías, Sara

Publication type:

Case Study

Loss of <italic>DMRT1</italic> gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0379-z

By:

Marsudi, Bagas A.;
Kartapradja, Hannie;
Paramayuda, Chrysantine;
Batubara, Jose R. L.;
Harahap, Alida R.;
Marzuki, Nanis S.

Publication type:

Article

Molecular cytogenetic identification of three rust-resistant wheat-<italic>Thinopyrum ponticum</italic> partial amphiploids.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0378-0

By:

Pei, Yanru;
Cui, Yu;
Zhang, Yanping;
Wang, Honggang;
Bao, Yinguang;
Li, Xingfeng

Publication type:

Article

Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22.

Published in:

2018

By:

Kashevarova, Anna A.;
Belyaeva, Elena O.;
Nikonov, Aleksandr M.;
Plotnikova, Olga V.;
Skryabin, Nikolay A.;
Nikitina, Tatyana V.;
Vasilyev, Stanislav A.;
Yakovleva, Yulia S.;
Babushkina, Nadezda P.;
Tolmacheva, Ekaterina N.;
Lopatkina, Mariya E.;
Savchenko, Renata R.;
Nazarenko, Lyudmila P.;
Lebedev, Igor N.

Publication type:

Case Study

Correction to: Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family.

Published in:

2018

By:

Zhang, Kaihui;
Huang, Yan;
Dong, Rui;
Yang, Yali;
Wang, Ying;
Zhang, Haiyan;
Zhang, Yufeng;
Gai, Zhongtao;
Liu, Yi

Publication type:

Correction Notice

Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings.

Published in:

2018

By:

Luo, Aixiang;
Li, Haiyu;
Cheng, Dehua;
Du, Juan;
Lin, Ge;
Tan, Yue-Qiu;
Yuan, Shimin;
Zhang, Yang;
Yang, Chuanchun;
Zhang, Wenyong

Publication type:

Case Study

Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0372-6

By:

Armstrong, Margaret E.;
Weaver, David D.;
Lah, Melissa D.;
Vance, Gail H.;
Landis, Benjamin J.;
Ware, Stephanie M.;
Helm, Benjamin M.

Publication type:

Article

Down syndrome associated childhood myeloid leukemia with yet unreported acquired chromosomal abnormalities and a new potential adverse marker: dup(1)(q25q44).

Published in:

2018

By:

Moassass, Faten;
Wafa, Abdulsamad;
Liehr, Thomas;
Al-Ablog, Ayman;
AL Achkar, Walid

Publication type:

Case Study

Parental origin of deletions and duplications – about the necessity to check for cryptic inversions.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0369-1

By:

Liehr, Thomas;
Schreyer, Isolde;
Kuechler, Alma;
Manolakos, Emmanouil;
Singer, Sylke;
Dufke, Andreas;
Wilhelm, Kathleen;
Jančušková, Tereza;
Čmejla, Radek;
Othman, Moneeb A. K.;
Al-Rikabi, Ahmed H.;
Mrasek, Kristin;
Ziegler, Monika;
Kankel, Stefanie;
Kreskowski, Katharina;
Weise, Anja

Publication type:

Article

3C and 3C-based techniques: the powerful tools for spatial genome organization deciphering.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0368-2

By:

Han, Jinlei;
Zhang, Zhiliang;
Wang, Kai

Publication type:

Article

Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0367-3

By:

Hu, Qiping;
Chai, Hongyan;
Shu, Wei;
Li, Peining

Publication type:

Article

Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-017-0349-x

By:

Kaihui, Zhang;
Yan, Huang;
Rui, Dong;
Yali, Yang;
Ying, Wang;
Haiyan, Zhang;
Yufeng, Zhang;
Zhongtao, Gai;
Yi, Liu

Publication type:

Article

Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0364-6

By:

Habib, Raneem;
Neitzel, Heidemarie;
Ernst, Aurelie;
Wong, John K. L.;
Goryluk-Kozakiewicz, Bozenna;
Gerlach, Antje;
Demuth, Ilja;
Sperling, Karl;
Chrzanowska, Krystyna

Publication type:

Article

Cytogenetics and stripe rust resistance of wheat–<italic>Thinopyrum elongatum</italic> hybrid derivatives.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0366-4

By:

Li, Daiyan;
Long, Dan;
Li, Tinghui;
Wu, Yanli;
Wang, Yi;
Zeng, Jian;
Xu, Lili;
Fan, Xing;
Sha, Lina;
Zhang, Haiqin;
Zhou, Yonghong;
Kang, Houyang

Publication type:

Article

Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature.

Published in:

2018

By:

Li, Haiyu;
Du, Juan;
Li, Wen;
Cheng, Dehua;
He, Wenbin;
Yi, Duo;
Xiong, Bo;
Yuan, Shimin;
Tu, Chaofeng;
Meng, Lanlan;
Luo, Aixiang;
Lin, Ge;
Lu, Guangxiu;
Tan, Yue-Qiu

Publication type:

Case Study

Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0363-7

By:

D’Angelo, Carla Sustek;
Varela, Monica Castro;
de Castro, Claudia Irene Emílio;
Otto, Paulo Alberto;
Perez, Ana Beatriz Alvarez;
Lourenço, Charles Marques;
Kim, Chong Ae;
Bertola, Debora Romeo;
Kok, Fernando;
Garcia-Alonso, Luis;
Koiffmann, Celia Priszkulnik

Publication type:

Article

Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia.

Published in:

Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0359-3

By:

Demir Eksi, Durkadin;
Shen, Yiping;
Erman, Munire;
Chorich, Lynn P.;
Sullivan, Megan E.;
Bilekdemir, Meric;
Yılmaz, Elanur;
Luleci, Guven;
Kim, Hyung-Goo;
Alper, Ozgul M.;
Layman, Lawrence C.

Publication type:

Article