Works matching IS 17558166 AND DT 2013 AND VI 6 AND IP 1

Results: 56

Chromosomal organization and evolutionary history of Mariner transposable elements in Scarabaeinae coleopterans.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-54

By:

Oliveira, Sarah G.;
Cabral-de-Mello, Diogo C.;
Moura, Rita C.;
Martins, Cesar

Publication type:

Article

Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-53

By:

Iourov, Ivan Y.;
Vorsanova, Svetlana G.;
Voinova, Victoria Y.;
Kurinnaia, Oxana S.;
Zelenova, Maria A.;
Demidova, Irina A.;
Yurov, Yuri B.

Publication type:

Article

A rare 3q13.31 microdeletion including GAP43 and LSAMP genes.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-52

By:

Gimelli, Stefania;
Leoni, Massimiliano;
Di Rocco, Maja;
Caridi, Gianluca;
Porta, Simona;
Cuoco, Cristina;
Gimelli, Giorgio;
Tassano, Elisa

Publication type:

Article

Karyotype and cytogenetic mapping of 9 classes of repetitive DNAs in the genome of the naked catfish Mystus bocourti (Siluriformes, Bagridae).

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-51

By:

Weerayuth Supiwong;
Thomas Liehr;
Cioffi, Marcelo B.;
Chaveerach, Arunrat;
Kosyakova, Nadezda;
Krit Pinthong;
Tawatchai Tanee;
Alongklod Tanomtong

Publication type:

Article

Myxoid liposarcoma in a 91-year-old patient.

Published in:

2013

By:

Sheffield, Brandon S.;
Nielsen, Torsten O.

Publication type:

Case Study

8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-49

By:

Baroncini, Anna;
Bertuzzo, Sara;
Quarantini, Rita;
Ricciardelli, Paolo;
Giorda, Roberto;
Bonaglia, Maria Clara

Publication type:

Article

Cytogenetic analysis in the neotropical fish Astyanax goyacensis Eigenmann, 1908 (Characidae, incertae sedis): karyotype description and occurrence of B microchromosomes.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-48

By:

Santos, Luana Pereira dos;
Castro, Jonathan Pena;
Francisco, Carine Mendonça de;
Vicari, Marcelo Ricardo;
Almeida, Mara Cristina de;
Goll, Leonardo Gusso;
Morelli, Sandra;
Artoni, Roberto Ferreira

Publication type:

Article

Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-47

By:

Manolakos, Emmanouil;
Kefalas, Konstantinos;
Vetro, Annalisa;
Oikonomidou, Eirini;
Daskalakis, George;
Psara, Natasa;
Siomou, Elisa;
Papageorgiou, Elena;
Sevastopoulou, Eirini;
Konstantinidou, Anastasia;
Vrachnis, Nikolaos;
Thomaidis, Loretta;
Zuffardi, Orsetta;
Papoulidis, Ioannis

Publication type:

Article

Complex small supernumerary marker chromosomes - an update.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-46

By:

Liehr, Thomas;
Cirkovic, Sanja;
Lalic, Tanja;
Guc-Scekic, Marija;
Almeida, Cynthia de;
Weimer, Jörg;
Iourov, Ivan;
Melaragno, Maria Isabel;
Guilherme, Roberta S.;
Stefanou, Eunice-Georgia G.;
Aktas, Dilek;
Kreskowski, Katharina;
Klein, Elisabeth;
Ziegler, Monika;
Kosyakova, Nadezda;
Volleth, Marianne;
Hamid, Ahmed B.

Publication type:

Article

Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-45

By:

Castronovo, Chiara;
Valtorta, Emanuele;
Crippa, Milena;
Tedoldi, Sara;
Romitti, Lorenza;
Amione, Maria Cristina;
Guerneri, Silvana;
Rusconi, Daniela;
Ballarati, Lucia;
Milani, Donatella;
Grosso, Enrico;
Cavalli, Pietro;
Giardino, Daniela;
Bonati, Maria Teresa;
Larizza, Lidia;
Finelli, Palma

Publication type:

Article

Individual karyotypes at the origins of cervical carcinomas.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-44

By:

McCormack, Amanda;
Jiang Lan Fan;
Duesberg, Max;
Bloomfield, Mathew;
Fiala, Christian;
Duesberg, Peter

Publication type:

Article

On the significance of germline cytogenetic rearrangements at MYCN locus in neuroblastoma.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-43

By:

Lipska, Beata S.;
Koczkowska, Magdalena;
Wierzba, Jolanta;
Ploszynska, Anna;
Iliszko, Mariola;
Izycka-Swieszewska, Ewa;
Adamkiewicz-Drozynska, Elzbieta;
Limon, Janusz

Publication type:

Article

A case of acute myeloid leukemia (AML) with an unreported combination of chromosomal abnormalities: gain of isochromosome 5p, tetrasomy 8 and unbalanced translocation der(19)t(17;19)(q23;p13).

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-40

By:

Paar, Christian;
Herber, Gabriele;
Voskova, Daniela;
Fridrik, Michael;
Stekel, Herbert;
Berg, Jörg

Publication type:

Article

Isochromosome Yp and jumping translocation of Yq resulting in five cell lines in an infertile male: a case report and review of the literature.

Published in:

2013

By:

Hemmat, Morteza;
Hemmat, Omid;
Boyar, Fatih Z.

Publication type:

Case Study

Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases.

Published in:

2013

By:

Horváth, Emese;
Horváth, Zsuzsanna;
Isaszegi, Dóra;
Gergev, Gyurgyinka;
Nagy, Nikoletta;
Szabó, János;
Sztriha, László;
Széll, Márta;
Endreffy, Emőke

Publication type:

Case Study

Characterization of a case of follicular lymphoma transformed into B-lymphoblastic leukemia.

Published in:

2013

By:

Yi Ning;
Foss, Aubry;
Kimball, Amy S.;
Neill, Nicholas;
Matz, Tricia;
Schultz, Roger

Publication type:

Case Study

Acquired del(9)(p22.3) in a primary plasma cell leukemia.

Published in:

2013

By:

Al Achkar, Walid;
Wafa, Abdulsamad;
Aljapawe, Abdulmunim;
Ak Othman, Moneeb;
Alhourani, Eyad;
Liehr, Thomas

Publication type:

Case Study

Selection of euploid blastocysts for cryopreservation with array comparative genomic hybridization (aCGH) results in increased implantation rates in subsequent frozen and thawed embryo transfer cycles.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-32

By:

Zhihong Yang;
Salem, Shala A.;
Xiaohong Liu;
Yanping Kuang;
Salem, Rifaat D.;
Jiaen Liu

Publication type:

Article

De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus.

Published in:

2013

By:

Ene-Choo Tan;
Lim, Eileen C. P.;
Seng-Teik Lee

Publication type:

Case Study

1q25.2-q31.3 Deletion in a female with mental retardation, clinodactyly, minor facial anomalies but no growth retardation.

Published in:

2013

By:

Ping Hu;
Yan Wang;
Lu-lu Meng;
Ling Qin;
Ding-yuan Ma;
Long Yi;
Zheng-feng Xu

Publication type:

Case Study

Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-29

By:

Genesio, Rita;
Ronga, Valentina;
Castelluccio, Pia;
Fioretti, Gennaro;
Mormile, Angela;
Leone, Graziella;
Conti, Anna;
Luigia Cavaliere, Maria;
Nitsch, Lucio

Publication type:

Article

Down-regulation of miR-181c in imatinib-resistant chronic myeloid leukemia.

Published in:

2013

By:

Mosakhani, Neda;
Mustjoki, Satu;
Knuutila, Sakari

Publication type:

Letter

Intragenic deletion of RBFOX1 associated with neurodevelopmental/neuropsychiatric disorders and possibly other clinical presentations.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-26

By:

Wei-Wei Zhao

Publication type:

Article

Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter.

Published in:

2013

By:

Sheth, Frenny;
Andrieux, Joris;
Tewari, Stuti;
Sheth, Harsh;
Desai, Manisha;
Kumari, Pritti;
Nanavaty, Nidhish;
Sheth, Jayesh

Publication type:

Case Study

Molecular Cytogenetics: the first impact factor (2.36).

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-28

By:

Liehr, Thomas;
Heng, Henry;
Yurov, Yuri;
Meloni-Ehrig, Aurelia;
Iourov, Ivan

Publication type:

Article

Distinct mechanism of formation of the 48, XXYY karyotype.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-25

By:

Balsera, Aránzazu Margallo;
Estévez, Manuela Núñez;
Beltrán, Emilia Balboa;
Sánchez-Giralt, Plácida;
García, Luz González;
Moreno, Trinidad Herrera;
De Cáceres, Mayte García;
Carbonell Pérez, José M.;
Gómez, Enrique Galán;
Rodríguez-López, Raquel

Publication type:

Article

Molecular topography of the MED12-deleted region in smooth muscle tumors: a possible link between non-B DNA structures and hypermutability.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-23

By:

Markowski, Dominique Nadine;
Nimzyk, Rolf;
Belge, Gazanfer;
Löning, Thomas;
Helmke, Burkhard Maria;
Bullerdiek, Jörn

Publication type:

Article

Comprehensive chromosome analysis of blastocysts before implantation using array CGH.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-22

By:

Mi Kyung Chung;
Hyeon Jeong Jeong;
Jung Hyun Lee;
Sang-Jin Park;
Hee-Doo Chung;
Ho-Young Kang

Publication type:

Article

The clinical application of array CGH for the detection of chromosomal defects in 20,126 unselected newborns.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-21

By:

Sang-Jin Park;
Eun Hye Jung;
Ran-Suk Ryu;
Hyun Woong Kang;
He Doo Chung;
Ho-Young Kang

Publication type:

Article

Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-19

By:

Hoppman, Nicole;
Aypar, Umut;
Brodersen, Pamela;
Brown, Neil;
Wilson, Justin;
Babovic-Vuksanovic, Dusica

Publication type:

Article

In memoriam: Prof. Dr. rer. nat. Dr. med. h.c. Lore Zech; 24.9.1923 - 13.3.2013: Honorary member of the European Society of Human Genetics, Honorary member of the German Society of Human Genetics, Doctor laureate, the University of Kiel, Germany.

Published in:

2013

By:

Schlegelberger, Brigitte

Publication type:

Obituary

A de novo acute myeloid leukemia (AML-M4) case with a complex karyotype and yet unreported breakpoints.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-18

By:

Al-achkar, Walid;
Aljapawe, Abdulmunim;
Kassem Othman, Moneeb Abdullah;
Wafa, Abdulsamad

Publication type:

Article

Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-17

By:

Hemmat, Morteza;
Hemmat, Omid;
Anguiano, Arturo;
Boyar, Fatih Z.;
El Naggar, Mohammed;
Jia-Chi Wang;
Wang, Borris T.;
Trilochan Sahoo;
Owen, Renius;
Haddadin, Mary

Publication type:

Article

Extending Barrett's esophagus cancer risk profile towards genetic abnormalities.

Published in:

2013

By:

Asari, Reza;
Riegler, Martin;
Schoppmann, Sebastian F.

Publication type:

Letter

Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years' clinical application for over 8,700 patients.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-16

By:

Ahn, Joo Wook;
Bint, Susan;
Bergbaum, Anne;
Mann, Kathy;
Hall, Richard P.;
Ogilvie, Caroline Mackie

Publication type:

Article

De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-15

By:

Yamamoto, Toshiyuki;
Matsuo, Mari;
Shimada, Shino;
Sangu, Noriko;
Shimojima, Keiko;
Aso, Seijiro;
Saito, Kayoko

Publication type:

Article

Heteromorphic variants of chromosome 9.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-14

By:

Kosyakova, Nadezda;
Grigorian, Ani;
Liehr, Thomas;
Manvelyan, Marina;
Simonyan, Isabella;
Mkrtchyan, Hasmik;
Aroutiounian, Rouben;
Polityko, Anna D.;
Kulpanovich, Anna I.;
Jaroshevich, Evgenia;
Frolova, Alla;
Shorokh, Natalia;
Naumchik, Irina V.;
Volleth, Marianne;
Schreyer, Isolde;
Nelle, Heike;
Stumm, Markus;
Wegner, Rolf-Dieter;
Reising-Ackermann, Gisela;
Merkas, Martina

Publication type:

Article

Cytogenetic analysis in three Bryconamericus species (Characiformes, Characidae): first description of the 5S rDNA-bearing chromosome pairs in the genus.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-13

By:

Piscor, Diovani;
Ribacinko-Piscor, Daniela Bocagini;
Fernandes, Carlos Alexandre;
Parise-Maltempi, Patricia Pasquali

Publication type:

Article

Chromosomal mapping of microsatellite repeats in the rock bream fish Oplegnathus fasciatus, with emphasis of their distribution in the neo-Y chromosome.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-12

By:

Dongdong Xu;
Lou, Bao;
Carlos Bertollo, Luiz Antonio;
de Bello Cioffi, Marcelo

Publication type:

Article

A rare de novo duplication of chromosome 21q22.12?q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-11

By:

Qingwei Qi;
Xiya Zhou;
Yulin Jiang;
Na Hao;
Jing Zhou;
Liang Zhang

Publication type:

Article

The utility of copy number variation (CNV) in studies of hypertension-related left ventricular hypertrophy (LVH): rationale, potential and challenges.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-8

By:

Hoh BoonPeng;
Yusoff, Khalid

Publication type:

Article

Multiplex ligation-dependent probe amplification workflow for the detection of submicroscopic chromosomal abnormalities in patients with developmental delay/intellectual disability.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-7

By:

Pohovski, Leona Morozin;
Dumic, Katja K.;
Odak, Ljubica;
Barisic, Ingeborg

Publication type:

Article

Atypical rearrangement involving 3'-IGH@ and a breakpoint at least 400 Kb upstream of an intact MYC in a CLL patient with an apparently balanced t(8;14)(q24.1;q32) and negative MYC expression.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-5

By:

Amarillo, Ina;
Bui, Peter H.;
Kantarci, Sibel;
Rao, Nagesh;
Shackley, Brit S.;
García, Rolando;
Tirado, Carlos A.

Publication type:

Article

Generation of multicolor banding probes for chromosomes of different species.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-6

By:

Kosyakova, Nadezda;
Basheer Hamid, Ahmed;
Chaveerach, Arunrat;
Pinthong, Krit;
Siripiyasing, Pornnarong;
Supiwong, Weerayuth;
Romanenko, Svetlana;
Trifonov, Vladimir;
Fan, Xiaobo

Publication type:

Article

6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-4

By:

Benedetto, Daniela Di;
Vita, Giuseppa Di;
Romano, Corrado;
Giudice, Mariangela Lo;
Vitello, Girolamo Aurelio;
Zingale, Marinella;
Grillo, Lucia;
Castiglia, Lucia;
Antonino Musumeci, Sebastiano;
Fichera, Marco

Publication type:

Article

Trisomy 8: a common finding in mouse embryonic stem (ES) cell lines.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-3

By:

Kim, Young Mi;
Ji-Yun Lee;
Lijun Xia;
Mulvihill, John J.;
Shibo Li

Publication type:

Article

Molecular cytogenetic analysis of Xq critical regions in premature ovarian failure.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-62

By:

Beke, Artur;
Piko, Henriett;
Haltrich, Iren;
Csomor, Judit;
Matolcsy, Andras;
Fekete, György;
Rigo Jr, Janos;
Karcagi, Veronika

Publication type:

Article

Body maps on the human genome.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-61

By:

Cherniak, Christopher;
Rodriguez-Esteban, Raul

Publication type:

Article

Karyotypic analysis and FISH mapping of microsatellite motifs reveal highly differentiated XX/XY sex chromosomes in the pink-tailed worm-lizard (Aprasia parapulchella, Pygopodidae, Squamata).

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-60

By:

Kazumi Matsubara;
Knopp, Theresa;
Sarre, Stephen D.;
Georges, Arthur;
Ezaz, Tariq

Publication type:

Article

Polyploidy in myelofibrosis: analysis by cytogenetic and SNP array indicates association with advancing disease.

Published in:

Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-59

By:

Singh, Nisha R.;
Morris, Christine M.;
Koleth, Mary;
Wong, Kelly;
Ward, Christopher M.;
Stevenson, William S.

Publication type:

Article