Works matching IS 17558166 AND DT 2017 AND VI 10

Results: 47

The exon junction complex factor Y14 is dynamic in the nucleus of the beetle Tribolium castaneum during late oogenesis.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0342-4

By:

Kiselev, Artem M.;
Stepanova, Irina S.;
Adonin, Leonid S.;
Batalova, Florina M.;
Parfenov, Vladimir N.;
Bogolyubov, Dmitry S.;
Podgornaya, Olga I.

Publication type:

Article

Haploinsufficiency of BMP4 and OTX2 in the Foetus with an abnormal facial profile detected in the first trimester of pregnancy.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0351-3

By:

Capkova, Pavlina;
Santava, Alena;
Markova, Ivana;
Stefekova, Andrea;
Srovnal, Josef;
Staffova, Katerina;
Durdová, Veronika

Publication type:

Article

Mosaicism for structural non-centromeric autosomal rearrangement in prenatal diagnoses: evidence for sex-specific selection against chromosomal abnormalities.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0346-0

By:

Kovaleva, Natalia V.;
Cotter, Philip D.

Publication type:

Article

Unique amplification of BCR-ABL1 gene fusion in a case of T-cell acute lymphoblastic leukemia.

Published in:

2017

By:

Koka, Rima;
Bade, Najeebah A.;
Sausville, Edward A.;
Yi Ning;
Ying Zou

Publication type:

Case Study

Noninvasive prenatal diagnosis of fetal aneuploidy by circulating fetal nucleated red blood cells and extravillous trophoblasts using silicon-based nanostructured microfluidics.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0343-3

By:

Chung-Er Huang;
Gwo-Chin Ma;
Hei-Jen Jou;
Wen-Hsiang Lin;
Dong-Jay Lee;
Yi-Shing Lin;
Ginsberg, Norman A.;
Hsin-Fu Chen;
Frank Mau-Chung Chang;
Ming Chen

Publication type:

Article

7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype.

Published in:

2017

By:

Yokoyama, Emiy;
Smith-Pellegrin, Dennise Lesley;
Sánchez, Silvia;
Molina, Bertha;
Rodríguez, Alfredo;
Juárez, Rocío;
Lieberman, Esther;
Avila, Silvia;
Castrillo, José Luis;
del Castillo, Victoria;
Frías, Sara

Publication type:

Case Study

De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0347-z

By:

Qin Wang;
Qian Geng;
Qinghua Zhou;
Fuwei Luo;
Peining Li;
Jiansheng Xie

Publication type:

Article

A case of placental trisomy 18 mosaicism causing a false negative NIPT result.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0341-5

By:

Jiexia Yang;
Yiming Qi;
Fangfang Guo;
Yaping Hou;
Haishan Peng;
Dongmei Wang;
Haoxin OY;
Aihua Yin

Publication type:

Article

Meeting abstracts from the 11th European Cytogenetics Conference: late breaking abstracts.

Published in:: 2017
Publication type:: Abstract

X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report.

Published in:

2017

By:

Telepova, Alena S.;
Romanenko, Svetlana A.;
Lemskaya, Natalya A.;
Maksimova, Yulia V.;
Shorina, Asia R.;
Yudkin, Dmitry V.

Publication type:

Case Study

Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0339-z

By:

Tewari, Stuti;
Lubna, Naznin;
Shah, Raju;
Al-Rikabi, Ahmed B. H.;
Shah, Krati;
Sheth, Jayesh;
Sheth, Frenny

Publication type:

Article

CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, n. 1, p. 1, doi. 10.1186/s13039-017-0334-4

By:

Hemmat, Morteza;
Rumple, Melissa;
Mahon, Loretta;
Morrow, Melanie;
Zach, Tamara;
Anguiano, Arturo;
Elnaggar, Mohamed;
Wang, Boris;
Boyar, Fatih

Publication type:

Article

A de novo complex chromosome rearrangement associated with multisystematic abnormalities, a case report.

Published in:

2017

By:

Dan Li;
Liping Jiao;
Xuefeng Gao;
Chan Tian;
Ping Liu;
Jie Qiao

Publication type:

Case Study

A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0324-6

By:

Siying Liang;
Nan Jiang;
Shuo Li;
Xiaohu Jiang;
Dongyi Yu

Publication type:

Article

Comparative cytogenetics in three Sciaenid species (Teleostei, Perciformes): evidence of interspecific chromosomal diversification.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0338-0

By:

Dongdong Xu;
Franco Molina, Wagner;
Fernanda Yano, Cassia;
Yurong Zhang;
de Oliveira, Ezequiel Aguiar;
Bao Lou;
de Bello Cioffi, Marcelo

Publication type:

Article

Abstracts from the 3rd Conference on Aneuploidy and Cancer: Clinical and Experimental Aspects.

Published in:: 2017
Publication type:: Abstract

Mosaic UPD(7q)mat in a patient with silver Russell syndrome.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0337-1

By:

Jiasun Su;
Jin Wang;
Xin Fan;
Chunyun Fu;
ShuJie Zhang;
Yue Zhang;
Zailong Qin;
Hongdou Li;
Jingsi Luo;
Chuan Li;
Tingting Jiang;
Yiping Shen

Publication type:

Article

Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review.

Published in:

2017

By:

Jie Hu;
Zhishuo Ou;
Infante, Elena;
Kochmar, Sally J.;
Madan-Khetarpal, Suneeta;
Hoffner, Lori;
Parsazad, Shafagh;
Surti, Urvashi

Publication type:

Case Study

A unique set of complex chromosomal abnormalities in an infant with myeloid leukemia associated with Down syndrome.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0335-3

By:

Correa De Souza, Daiane;
Faria De Figueiredo, Amanda;
Ney Garcia, Daniela R.;
Sobral Da Costa, Elaine;
Othman, Moneeb A. K.;
Liehr, Thomas;
Abdelhay, Eliana;
Macedo Silva, Maria Luiza;
De Souza Fernandez, Teresa

Publication type:

Article

Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 region.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, n. 1, p. 1, doi. 10.1186/s13039-017-0336-2

By:

Poluha, Anna;
Bernaciak, Joanna;
Jaszczuk, Ilona;
Kędzior, Marta;
Nowakowska, Beata Anna

Publication type:

Article

Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0333-5

By:

Ruen Yao;
Cheng Zhang;
Tingting Yu;
Niu Li;
Xuyun Hu;
Xiumin Wang;
Jian Wang;
Yiping Shen

Publication type:

Article

Limited survivability of unbalanced progeny of carriers of a unique t(4;19)(p15.32;p13.3): a study in multiple generations.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0330-8

By:

Šumanović-Glamuzina, Darinka;
Lozić, Bernarda;
Iwanowski, Piotr S.;
Zemunik, Tatijana;
Bilinovac, Zeljka;
Stasiewicz-Jarocka, Beata;
Panasiuk, Barbara;
Midro, Alina T.

Publication type:

Article

A complete duplication of X chromosome resulting in a tricentric isochromosome originated by centromere repositioning.

Published in:

2017

By:

Villa, N.;
Conconi, D.;
Benussi, D. Gambel;
Tornese, G.;
Crosti, F.;
Sala, E.;
Dalprà, L.;
Pecile, V.

Publication type:

Case Study

A novel BCR-ABL1 fusion gene with genetic heterogeneity indicates a good prognosis in a chronic myeloid leukemia case.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0322-8

By:

Fen Zhou;
Runming Jin;
Yu Hu;
Heng Mei

Publication type:

Article

Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0329-1

By:

Chantot-Bastaraud, Sandra;
Stratmann, Svea;
Brioude, Frédéric;
Begemann, Matthias;
Elbracht, Miriam;
Graul-Neumann, Luitgard;
Harbison, Madeleine;
Netchine, Irène;
Eggermann, Thomas

Publication type:

Article

Optimization of proximity ligation assay (PLA) for detection of protein interactions and fusion proteins in non-adherent cells: application to pre-B lymphocytes.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0328-2

By:

Debaize, Lydie;
Jakobczyk, Hélène;
Rio, Anne-Gaëlle;
Gandemer, Virginie;
Troadec, Marie-Bérengère

Publication type:

Article

Combination of t(4;14), del(17p13), del(1p32) and 1q21 gain FISH probes identifies clonal heterogeneity and enhances the detection of adverse cytogenetic profiles in 233 newly diagnosed multiple myeloma.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0327-3

By:

Smol, Thomas;
Dufour, Annika;
Tricot, Sabine;
Wemeau, Mathieu;
Stalnikiewicz, Laure;
Bernardi, Franck;
Terré, Christine;
Ducourneau, Benoît;
Bisiau, Hervé;
Daudignon, Agnès

Publication type:

Article

Meeting abstracts from the 11th European Cytogenetics Conference.

Published in:: 2017
Publication type:: Abstract

Scattered genomic amplification in dedifferentiated liposarcoma.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0325-5

By:

Mandahl, Nils;
Magnusson, Linda;
Nilsson, Jenny;
Viklund, Björn;
Arbajian, Elsa;
von Steyern, Fredrik Vult;
Isaksson, Anders;
Mertens, Fredrik

Publication type:

Article

Mosaicism for structural non-centromeric autosomal rearrangements in disease-defined carriers: sex differences in the rearrangements profile and maternal age distributions.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0321-9

By:

Kovaleva, Natalia V.;
Cotter, Philip D.

Publication type:

Article

Clinicohematological and cytogenetic profile of myelodysplastic syndromes in Pakistan-compare and contrast.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0318-4

By:

Anwar, Nida;
Arshad, Aisha;
Nadeem, Muhammad;
Khurram, Sana;
Fatima, Naveena;
Sharif, Sumaira;
Shan, Saira;
Shamsi, Tahir

Publication type:

Article

Importance of biomarkers in glioblastomas patients receiving local BCNU wafer chemotherapy.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0317-5

By:

Urbschat, Steffi;
Sippl, Christoph;
Engelhardt, Jana;
Kammers, Kai;
Oertel, Joachim;
Ketter, Ralf

Publication type:

Article

A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0316-6

By:

Tomohiro Kohmoto;
Nana Okamoto;
Takuya Naruto;
Chie Murata;
Yuya Ouchi;
Naoko Fujita;
Hidehito Inagaki;
Shigeko Satomura;
Nobuhiko Okamoto;
Masako Saito;
Kiyoshi Masuda;
Hiroki Kurahashi;
Issei Imoto

Publication type:

Article

Identification of mosaic and segmental aneuploidies by next-generation sequencing in preimplantation genetic screening can improve clinical outcomes compared to array-comparative genomic hybridization.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0315-7

By:

Hsing-Hua Lai;
Tzu-Hsuan Chuang;
Lin-Kin Wong;
Meng-Ju Lee;
Chia-Lin Hsieh;
Huai-Lin Wang;
Shee-Uan Chen

Publication type:

Article

Genetic and epigenetic characterization of the tumors in a patient with a tongue primary tumor, a recurrence and a pharyngoesophageal second primary tumor.

Published in:

2017

By:

Ribeiro, Ilda P.;
Marques, Francisco;
Barroso, Leonor;
Miguéis, Jorge;
Caramelo, Francisco;
Santos, André;
Julião, Maria J.;
Melo, Joana B.;
Carreira, Isabel M.

Publication type:

Case Study

Efficient and cost-effective genetic analysis of products of conception and fetal tissues using a QF-PCR/array CGH strategy; five years of data.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0313-9

By:

Donaghue, Celia;
Davies, Nada;
Joo Wook Ahn;
Thomas, Helen;
Ogilvie, Caroline Mackie;
Mann, Kathy

Publication type:

Article

Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0312-x

By:

Stavber, Lana;
Bertok, Sara;
Kovač, Jernej;
Volk, Marija;
Lovrečić, Luca;
Battelino, Tadej;
Hovnik, Tinka

Publication type:

Article

Is DNA methylation the new guardian of the genome?

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0314-8

By:

Hoffman, Robert M.

Publication type:

Article

Isolation and characterization of chromosomal markers in Poa pratensis.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0307-7

By:

Yanyan Zhao;
Feng Yu;
Ruijuan Liu;
Quanwen Dou

Publication type:

Article

Identification of a novel DMD duplication identified by a combination of MLPA and targeted exome sequencing.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0301-0

By:

Beibei Wu;
Liying Wang;
Ting Dong;
Jiahui Jin;
Yili Lu;
Huiping Wu;
Yue Luo;
Xiaoou Shan

Publication type:

Article

Application of high-resolution genomic profiling in the differential diagnosis of liposarcoma.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0309-5

By:

Koczkowska, Magdalena;
Lipska-Ziętkiewicz, Beata Stefania;
Iliszko, Mariola;
Ryś, Janusz;
Miettinen, Markku;
Lasota, Jerzy;
Biernat, Wojciech;
Harazin-Lechowska, Agnieszka;
Kruczak, Anna;
Limon, Janusz

Publication type:

Article

Incidence of the 22q11.2 deletion in a large cohort of miscarriage samples.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0308-6

By:

Maisenbacher, Melissa K.;
Merrion, Katrina;
Pettersen, Barbara;
Young, Michael;
Paik, Kiyoung;
Iyengar, Sushma;
Kareht, Stephanie;
Sigurjonsson, Styrmir;
Demko, Zachary P.;
Martin, Kimberly A.

Publication type:

Article

Molecular cytogenetic characterisation of a novel de novo ring chromosome 6 involving a terminal 6p deletion and terminal 6q duplication in the different arms of the same chromosome.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0311-y

By:

Pace, Nikolai Paul;
Maggouta, Frideriki;
Twigden, Melissa;
Borg, Isabella

Publication type:

Article

Multiple MYO18A-PDGFRB fusion transcripts in a myeloproliferative neoplasm patient with t(5;17)(q32;q11).

Published in:

2017

By:

Guangying Sheng;
Zhao Zeng;
Jinlan Pan;
Linbing Kou;
Qinrong Wang;
Hong Yao;
Lijun Wen;
Liang Ma;
Depei Wu;
Huiying Qiu;
Suning Chen

Publication type:

Case Study

"Classical cytogenetics" is not equal to "banding cytogenetics".

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0305-9

By:

Liehr, Thomas

Publication type:

Article

MLPA analysis in a cohort of patients with autism.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0302-z

By:

Peixoto, Sara;
Melo, Joana B.;
Ferrão, José;
Pires, Luís M.;
Lavoura, Nuno;
Pinto, Marta;
Oliveira, Guiomar;
Carreira, Isabel M.

Publication type:

Article

Meiotic outcome in two carriers of Y autosome reciprocal translocations: selective elimination of certain segregants.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0303-y

By:

Ghevaria, Harita;
Naja, Roy;
SenGupta, Sioban;
Serhal, Paul;
Delhanty, Joy

Publication type:

Article