Works matching IS 17558166 AND DT 2015 AND VI 8

Results: 112

Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion.

Published in:

2015

By:

Kurtulgan, Hande Küçük;
Özer, Leyla;
Yıldırım, Malik Ejder;
Ünsal, Evrim;
Aktuna, Süleyman;
Baltacı, Volkan;
Akkuş, Nejmiye;
Sezgin, İlhan

Publication type:

Case Study

Segmental paleotetraploidy revealed in sterlet (Acipenser ruthenus) genome by chromosome painting.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, p. 1, doi. 10.1186/s13039-015-0194-8

By:

Romanenko, Svetlana A.;
Biltueva, Larisa S.;
Serdyukova, Natalya A.;
Kulemzina, Anastasia I.;
Beklemisheva, Violetta R.;
Gladkikh, Olga L.;
Lemskaya, Natalia A.;
Interesova, Elena A.;
Korentovich, Marina A.;
Vorobieva, Nadezhda V.;
Graphodatsky, Alexander S.;
Trifonov, Vladimir A.

Publication type:

Article

Association between sister chromatid exchange and double minute chromosomes in human tumor cells.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, p. 1, doi. 10.1186/s13039-015-0192-x

By:

Jie Xu;
Peng Liu;
Xiangning Meng;
Jing Bai;
Songbin Fu;
Rongwei Guan;
Wenjing Sun

Publication type:

Article

Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, p. 1, doi. 10.1186/s13039-015-0193-9

By:

Bonaglia, Maria Clara;
Zanotta, Nicoletta;
Giorda, Roberto;
D'Angelo, Grazia;
Zucca, Claudio

Publication type:

Article

De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, p. 1, doi. 10.1186/s13039-015-0191-y

By:

Ying Peng;
Ruiyu Ma;
Yingjie Zhou;
Yan Xia;
Juan Wen;
Yanghui Zhang;
Ruolan Guo;
Haoxian Li;
Qian Pan;
Rui Zhang;
Chengyuan Tang;
Desheng Liang;
Lingqian Wu

Publication type:

Article

First insights on the retroelement Rex1 in the cytogenetics of frogs.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, p. 1, doi. 10.1186/s13039-015-0189-5

By:

Nascimento, Juliana;
Baldo, Diego;
Lourenço, Luciana Bolsoni

Publication type:

Article

Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a lowfrequency noncoding RBM8A SNP: a new familial case.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, p. 1, doi. 10.1186/s13039-015-0188-6

By:

Tassano, Elisa;
Gimelli, Stefania;
Divizia, Maria Teresa;
Lerone, Margherita;
Vaccari, Carlotta;
Puliti, Aldamaria;
Gimelli, Giorgio

Publication type:

Article

Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or inherited disease-associated variations.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, p. 1, doi. 10.1186/s13039-015-0190-z

By:

WeiQiang Liu;
HuiMin Zhang;
Jian Wang;
GuoJiu Yu;
WenJun Qiu;
ZhiHua Li;
Min Chen;
Kwong Wai Choy;
XiaoFang Sun

Publication type:

Article

Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, p. 1, doi. 10.1186/s13039-015-0187-7

By:

Vrečar, Irena;
Rudolf, Gorazd;
Peterlin, Borut;
Lovrecic, Luca

Publication type:

Article

Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, p. 1, doi. 10.1186/s13039-015-0186-8

By:

Satoru Takahashi;
Ryosuke Tanaka;
Satomi Okano;
Akie Okayama;
Nao Suzuki;
Hiroshi Azuma

Publication type:

Article

3p22.1p21.31 microdeletion identifies CCK as Asperger syndrome candidate gene and shows the way for therapeutic strategies in chromosome imbalances.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, p. 1, doi. 10.1186/s13039-015-0185-9

By:

Iourov, Ivan Y.;
Vorsanova, Svetlana G.;
Voinova, Victoria Y.;
Yurov, Yuri B.

Publication type:

Article

Dynamics of Rex3 in the genomes of endangered Iberian Leuciscinae (Teleostei, Cyprinidae) and their natural hybrids.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, p. 1, doi. 10.1186/s13039-015-0180-1

By:

Pereira, Carla Sofia A.;
Pazian, Marlon F.;
Ráb, Petr;
Collares-Pereira, Maria João

Publication type:

Article

A modified method for preparing meiotic chromosomes based on digesting pollen mother cells in suspension.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, p. 1, doi. 10.1186/s13039-015-0184-x

By:

Jiangbo Dang;
Qian Zhao;
Xing Yang;
Zhi Chen;
Suqiong Xiang;
Guolu Liang

Publication type:

Article

Karyotype alteration generates the neoplastic phenotypes of SV40-infected human and rodent cells.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, p. 1, doi. 10.1186/s13039-015-0183-y

By:

Bloomfield, Mathew;
Duesberg, Peter

Publication type:

Article

Epidermal Growth Factor (EGFR) copy number aberrations in esophageal and gastro-esophageal junctional carcinoma.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, p. 1, doi. 10.1186/s13039-015-0181-0

By:

Dahle-Smith, Åsa;
Stevenson, David;
Massie, Doreen;
Murray, Graeme I.;
Dutton, Susan J.;
Roberts, Corran;
Ferry, David;
Osborne, Aileen;
Clark, Caroline;
Petty, Russell D.;
Miedzybrodzka, Zosia

Publication type:

Article

Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, p. 2, doi. 10.1186/s13039-015-0182-z

By:

Iourov, Ivan Y.;
Vorsanova, Svetlana G.;
Korostelev, Sergei A.;
Zelenova, Maria A.;
Yurov, Yuri B.

Publication type:

Article

A rare coincidence of different types of driver mutations among uterine leiomyomas (UL).

Published in:

2015

By:

Holzmann, Carsten;
Markowski, Dominique Nadine;
Bartnitzke, Sabine;
Koczan, Dirk;
Helmke, Burkhard Maria;
Bullerdiek, Jörn

Publication type:

Case Study

Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0179-7

By:

Alaimo, Joseph T.;
Mullegama, Sureni V.;
Thomas, Mary Ann;
Elsea, Sarah H.

Publication type:

Article

Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, p. 1, doi. 10.1186/s13039-015-0179-7

By:

Alaimo, Joseph T.;
Mullegama, Sureni V.;
Thomas, Mary Ann;
Elsea, Sarah H.

Publication type:

Article

Global DNA Methylation patterns on marsupial and devil facial tumour chromosomes.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0176-x

By:

Ingles, Emory D.;
Deakin, Janine E.

Publication type:

Article

Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.

Published in:: 2015
Publication type:: Correction Notice

An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.

Published in:

2015

By:

Selenti, Nikoletta;
Tzetis, Maria;
Braoudaki, Maria;
Giannikou, Krinio;
Kitsiou-Tzeli, Sofia;
Fryssira, Helen

Publication type:

Case Study

Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0178-8

By:

Ehret, Julia K.;
Engels, Hartmut;
Cremer, Kirsten;
Becker, Jessica;
Zimmermann, Johannes P.;
Wohlleber, Eva;
Grasshoff, Ute;
Rossier, Eva;
Bonin, Michael;
Mangold, Elisabeth;
Bevot, Andrea;
Schön, Stefanie;
Heilmann-Heimbach, Stefanie;
Dennert, Nicola;
Mathieu-Dramard, Michèle;
Lacaze, Elodie;
Plessis, Ghislaine;
de Broca, Alain;
Jedraszak, Guillaume;
Röthlisberger, Benno

Publication type:

Article

Interstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0175-y

By:

Papoulidis, Ioannis;
Paspaliaris, Vassilis;
Siomou, Elisavet;
Orru, Sandro;
Murru, Roberta;
Sifakis, Stavros;
Nikolaidis, Petros;
Garas, Antonios;
Sotiriou, Sotirios;
Thomaidis, Loretta;
Manolakos, Emmanouil

Publication type:

Article

An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0174-z

By:

Selenti, Nikoletta;
Tzetis, Maria;
Braoudaki, Maria;
Gianikou, Krinio;
Kitsiou-Tzeli, Sofia;
Fryssira, Helen

Publication type:

Article

A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0172-1

By:

Primerano, A.;
Colao, E.;
Villella, C.;
Nocera, M. D.;
Ciambrone, A.;
Luciano, E.;
D'Antona, L.;
Vismara, M. F. M.;
Loddo, S.;
Novelli, A.;
Perrotti, N.;
Malatesta, Paola

Publication type:

Article

A chromosomal rearrangement in a child with severe speech and language disorder separates FOXP2 from a functional enhancer.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0173-0

By:

Becker, Martin;
Devanna, Paolo;
Fisher, Simon E.;
Vernes, Sonja C.

Publication type:

Article

Double inv(3)(q21q26.2) in acute myeloid leukemia is resulted from an acquired copy neutral loss of heterozygosity of chromosome 3q and associated with disease progression.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0171-2

By:

Jun Gu;
Patel, Keyur P.;
Bai, Bing;
Ching-Hua Liu;
Guilin Tang;
Kantarjian, Hagop M.;
Zhenya Tang;
Abraham, Ronald;
Luthra, Rajyalakshmi;
Medeiros, L. Jeffrey;
Pei Lin;
Xinyan Lu

Publication type:

Article

De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0170-3

By:

Palumbo, Orazio;
Fischetto, Rita;
Palumbo, Pietro;
Nicastro, Francesco;
Papadia, Francesco;
Zelante, Leopoldo;
Carella, Massimo

Publication type:

Article

An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0169-9

By:

Selenti, Nikoletta;
Tzetis, Maria;
Braoudaki, Maria;
Gianikou, Krinio;
Kitsiou-Tzeli, Sofia;
Fryssira, Helen

Publication type:

Article

Aneusomy detection with Karyolite-Bac on Beads® is a cost-efficient and high throughput strategy in the molecular analyses of the early pregnancy conception losses.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0168-x

By:

Pérez-Durán, Javier;
Nájera, Zenyese;
Trujillo-Cabrera, Yanelly;
Martín-Saro, Mónica;
García-Latorre, Ethel;
Escarcega-Preciado, Jaime;
Nájera, Nayelli;
Martínez-Galaviz, Teresa;
Queipo, Gloria

Publication type:

Article

Molecular cytogenetic studies characterizing a novel complex karyotype with an uncommon 5q22 deletion in childhood acute myeloid leukemia.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0167-y

By:

de Figueiredo, Amanda Faria;
de Matos, Roberto Rodrigues Capela;
Othman, Moneeb A. K.;
Liehr, Thomas;
da Costa, Elaine Sobral;
Poirot Land, Marcelo Geradin;
Ribeiro, Raul C.;
Abdelhay, Eliana;
Macedo Silva, Maria Luiza

Publication type:

Article

Chromosome number and ploidy level of balm (Melissa officinalis).

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0166-z

By:

Kittler, J.;
Schrader, O.;
Kästner, U.

Publication type:

Article

Deletion 9p23 to 9p11.1 as sole additional abnormality in a Philadelphia positive chronic myeloid leukemia in blast crisis: a rare event.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0165-0

By:

Wafa, Abdulsamad;
Asa'ad, Manar;
Ikhtiar, Adnan;
Liehr, Thomas;
Al-Achkar, Walid

Publication type:

Article

Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0164-1

By:

Magini, Pamela;
Poscente, Monica;
Ferrari, Simona;
Vargiolu, Manuela;
Bacchelli, Elena;
Graziano, Claudio;
Wischmeijer, Anita;
Turchetti, Daniela;
Malaspina, Elisabetta;
Marchiani, Valentina;
Cordelli, Duccio Maria;
Franzoni, Emilio;
Romeo, Giovanni;
Seri, Marco

Publication type:

Article

Reversing chromatin accessibility differences that distinguish homologous mitotic metaphase chromosomes.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0159-y

By:

Khan, Wahab A.;
Rogan, Peter K.;
Knoll, Joan H. M.

Publication type:

Article

Observations of the genomic landscape beyond 1p19q deletions and EGFR amplification in glioma.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0156-1

By:

Paxton, Christian N.;
Rowe, Leslie R.;
South, Sarah T.

Publication type:

Article

Disomy 21 in spermatozoa and the paternal origin of trisomy 21 Down syndrome.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0155-2

By:

Iwarsson, Erik;
Kvist, Ulrik;
Hultén, Maj A.

Publication type:

Article

Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0163-2

By:

Sheth, Frenny;
Liehr, Thomas;
Shah, Krati;
Sheth, Jayesh

Publication type:

Article

Periventricular heterotopia and white matter abnormalities in a girl with mosaic ring chromosome 6.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0162-3

By:

Satsuki Nishigaki;
Takashi Hamazaki;
Mika Saito;
Toshiyuki Yamamoto;
Toshiyuki Seto;
Haruo Shintaku

Publication type:

Article

Comparative cytogenetics in the genus Hoplias (Characiformes, Erythrinidae) highlights contrasting karyotype evolution among congeneric species.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0161-4

By:

de Oliveira, Ezequiel Aguiar;
Bertollo, Luiz Antônio Carlos;
Yano, Cassia Fernanda;
Liehr, Thomas;
de Bello Cioffi, Marcelo

Publication type:

Article

Trisomy Xp and partial tetrasomy Xq resulting from gain of a rearranged X chromosome in a female fetus: pathogenic or not?

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0160-5

By:

Yiu, Maria;
Zhongxia Qi;
Ki, Anita;
Jingwei Yu

Publication type:

Article

Construction of BAC contig maps of homoeologous chromosomes A12 and D12 of Gossypium hirsutum L. acc. TM-1.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0158-z

By:

Yanhui Lv;
Dan Ma;
Wenhua Liang;
Yuanda Lv;
Wangzhen Guo;
Yan Hu;
Tianzhen Zhang

Publication type:

Article

A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0157-0

By:

Hladilkova, Eva;
Barøy, Tuva;
Fannemel, Madeleine;
Vallova, Vladimira;
Misceo, Doriana;
Bryn, Vesna;
Slamova, Iva;
Prasilova, Sarka;
Kuglik, Petr;
Frengen, Eirik

Publication type:

Article

Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0154-3

By:

Genesio, Rita;
Mormile, Angela;
Licenziati, Maria Rosaria;
De Brasi, Daniele;
Leone, Graziella;
Balzano, Sara;
Izzo, Antonella;
Bonfiglio, Ferdinando;
Conti, Anna;
Fioretti, Gennaro;
Lenta, Selvaggia;
Poggiano, Maria Rita;
Siani, Paolo;
Nitsch, Lucio

Publication type:

Article

Complex X chromosome rearrangement associated with multiorgan autoimmunity.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0152-5

By:

Haltrich, Irén;
Pikó, Henriett;
Pamjav, Horolma;
Somogyi, Anikó;
Völgyi, Antónia;
David, Dezső;
Beke, Artúr;
Garamvölgyi, Zoltán;
Kiss, Eszter;
Karcagi, Veronika;
Fekete, György

Publication type:

Article

Chromosome territory repositioning induced by PHA-activation of lymphocytes: A 2D and 3D appraisal.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0146-3

By:

Ioannou, Dimitrios;
Kandukuri, Lakshmi;
Simpson, Joe Leigh;
Tempest, Helen Ghislaine

Publication type:

Article

Assessment of copy number variations in the brain genome of schizophrenia patients.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0144-5

By:

Miwako Sakai;
Yuichiro Watanabe;
Toshiyuki Someya;
Kazuaki Araki;
Masako Shibuya;
Kazuhiro Niizato;
Kenichi Oshima;
Yasuto Kunii;
Hirooki Yabe;
Junya Matsumoto;
Akira Wada;
Mizuki Hino;
Takeshi Hashimoto;
Akitoyo Hishimoto;
Noboru Kitamura;
Shuji Iritani;
Osamu Shirakawa;
Kiyoshi Maeda;
Akinori Miyashita;
Shin-ichi Niwa

Publication type:

Article

Preimplantation genetic screening of blastocysts by multiplex qPCR followed by fresh embryo transfer: validation and verification.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0140-9

By:

Yu-Shih Yang;
Shun-Ping Chang;
Hsin-Fu Chen;
Gwo-Chin Ma;
Wen-Hsiang Lin;
Chi-Fang Lin;
Feng-Po Tsai;
Cheng-Hsuan Wu;
Horng-Der Tsai;
Tsung-Hsien Lee;
Ming Chen

Publication type:

Article

PAX5-KIAA1549L: a novel fusion gene in a case of pediatric B-cell precursor acute lymphoblastic leukemia.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0138-3

By:

Anderl, Stefanie;
König, Margit;
Attarbaschi, Andishe;
Strehl, Sabine

Publication type:

Article