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Showing results for ISSN matching 1755-8166

Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array

JOURNAL ARTICLE published December 2021 in Molecular Cytogenetics

Research funded by The Medical and Health of Science and Technology Project of Zhejiang Province support plan (2018KY758) | National Key R&D Program of China (2018YFC1002704)

Authors: Lili Zhou | Zhaoke Zheng | Yunzhi Xu | Xiaoxiao Lv | Chenyang Xu | Xueqin Xu

https://doi.org/10.1186/s13039-021-00537-2 Actions

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

JOURNAL ARTICLE published December 2015 in Molecular Cytogenetics

Research funded by National Natural Science Foundation (Grant code:ID0E3JAE110) | the Natural Science Foundation in Jiangsu Province (Grant code:ID0EQMAE111) | the Priority Academic Program Development of Jiangsu Higher Education Institutions (Grant code:ID0EEPAE112) | 111 Project (Grant code:ID0EMQAE113)

Authors: Yanhui Lv | Dan Ma | Wenhua Liang | Yuanda Lv | Wangzhen Guo | Yan Hu | Tianzhen Zhang

https://doi.org/10.1186/s13039-015-0158-z Actions

Identification of NKX2-5 and GATA4 sequence variations in patients with cardiac septation defects

JOURNAL ARTICLE published 2014 in Molecular Cytogenetics

Authors: Yashvanthi Borkar | K Ranjan Shetty | K Krishnanand | Rajasekhar Moka

https://doi.org/10.1186/1755-8166-7-s1-p27 Actions

A case-control association study of K121Q and G/T Variants in ENPP1 and TCF7L2 gene with type 2 diabetes mellitus in North Indian Punjabi Population

JOURNAL ARTICLE published 2014 in Molecular Cytogenetics

Authors: Basanti Barna | Null Badaruddoza | Kawaljit Matharoo | Amarjeet Singh Bhanwer

https://doi.org/10.1186/1755-8166-7-s1-p115 Actions

Next generation sequence analysis of the transcriptional response to neonatal hyperoxia

JOURNAL ARTICLE published 2014 in Molecular Cytogenetics

Authors: Soumyaroop Bhattacharya | Zhongyang Zhou | Min Yee | Ashley Lopez | Valarie Lunger | Bradley Buczynski | Gloria Pryhuber | Thomas Mariani | Michael OReilly

https://doi.org/10.1186/1755-8166-7-s1-p85 Actions

Karyotypic evolutions of cancer species in rats during the long latent periods after injection of nitrosourea

JOURNAL ARTICLE published December 2014 in Molecular Cytogenetics

Authors: Mathew Bloomfield | Amanda McCormack | Daniele Mandrioli | Christian Fiala | C Marcelo Aldaz | Peter Duesberg

https://doi.org/10.1186/s13039-014-0071-x Actions

Frequency analysis of Spinocerebellar ataxia types 1, 2, 3 & 6 in patients with ataxia from Gujarat

JOURNAL ARTICLE published 2014 in Molecular Cytogenetics

Authors: Harsh Patel | Mehul Mistri | Chitra Ankleshwaria | Frenny Sheth | Jayesh Sheth

https://doi.org/10.1186/1755-8166-7-s1-p64 Actions

Distinct mechanism of formation of the 48, XXYY karyotype

JOURNAL ARTICLE published December 2013 in Molecular Cytogenetics

Authors: Aránzazu Margallo Balsera | Manuela Núñez Estévez | Emilia Balboa Beltrán | Plácida Sánchez-Giralt | Luz González García | Trinidad Herrera Moreno | Mayte García de Cáceres | José M Carbonell Pérez | Enrique Galán Gómez | Raquel Rodríguez-López

https://doi.org/10.1186/1755-8166-6-25 Actions

Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study

JOURNAL ARTICLE published 4 January 2024 in Molecular Cytogenetics

Research funded by National Natural Science Foundation of China (82001564) | Basic and Applied Basic Research Foundation of Guangdong Province (No.2021A1515110752)

Authors: Shaobin Lin | Shanshan Shi | Jian Lu | Zhiming He | Danlun Li | Linhuan Huang | Xuan Huang | Yi Zhou | Yanmin Luo

https://doi.org/10.1186/s13039-023-00664-y Actions

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

JOURNAL ARTICLE published December 2017 in Molecular Cytogenetics

Research funded by Japan Society for the Promotion of Science (26293304,16K15618,15K19620)

Authors: 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

https://doi.org/10.1186/s13039-017-0316-6 Actions

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

JOURNAL ARTICLE published December 2017 in Molecular Cytogenetics

Research funded by Consejo Nacional de Ciencia y Tecnología (MX) (FOSSIS-S0008-2008-C01-87792) | Fondos Federales 2013, Instituto Nacional de Pediatría (06/2009)

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

https://doi.org/10.1186/s13039-017-0345-1 Actions

In silico molecular cytogenetics: a bioinformatic approach to prioritization of candidate genes and copy number variations for basic and clinical genome research

JOURNAL ARTICLE published December 2014 in Molecular Cytogenetics

Authors: Ivan Y Iourov | Svetlana G Vorsanova | Yuri B Yurov

https://doi.org/10.1186/s13039-014-0098-z Actions

Coexistence of iAMP21 and ETV6-RUNX1 fusion in an adolescent with B cell acute lymphoblastic leukemia: literature review of six additional cases

JOURNAL ARTICLE published December 2016 in Molecular Cytogenetics

Authors: Jun Gu | Alexandra Reynolds | Lianghua Fang | Corrie DeGraffenreid | Kenneth Sterns | Keyur P. Patel | L. Jeffrey Medeiros | Pei Lin | Xinyan Lu

https://doi.org/10.1186/s13039-016-0294-0 Actions

Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report

JOURNAL ARTICLE published 2010 in Molecular Cytogenetics

Authors: Christel Eckmann-Scholz | Stefan Gesk | Inga Nagel | Andrea Haake | Susanne Bens | Simone Heidemann | Monika Kautza | Christian Timke | Reiner Siebert | Almuth Caliebe

https://doi.org/10.1186/1755-8166-3-16 Actions

Prenatal diagnosis of a novel 7q31.31q31.33 microduplication with a favorable outcome

JOURNAL ARTICLE published December 2022 in Molecular Cytogenetics

Authors: Huili Luo | Linlin Liu | Yuexiang Feng

https://doi.org/10.1186/s13039-022-00589-y Actions

Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion

JOURNAL ARTICLE published December 2019 in Molecular Cytogenetics

Authors: Liliana Fernández-Hernández | María José Navarro-Cobos | Miguel Angel Alcántara-Ortigoza | Sandra Elena Ramos-Ángeles | Bertha Molina-Álvarez | Sinhué Díaz-Cuéllar | Bárbara Asch-Daich | Ariadna González-del Angel

https://doi.org/10.1186/s13039-019-0438-0 Actions

Reviewer acknowledgement 2014

JOURNAL ARTICLE published 2014 in Molecular Cytogenetics

Authors: Thomas Liehr | Henry Heng | Yuri Yurov

https://doi.org/10.1186/1755-8166-7-11 Actions

Application of Chromosomal Microarray and Multiplex Ligation-dependent Probe Amplification in prenatal diagnosis

JOURNAL ARTICLE published 2014 in Molecular Cytogenetics

Authors: Pankaj Sharma | Madhumita Roy Chowdhury | Neerja Gupta | Rashmi Shukla | Shruthi Sudarshan | Manju Ghosh | Deepika Deka | Madhulika Kabra

https://doi.org/10.1186/1755-8166-7-s1-p127 Actions

Genomic packaging and epigenetic regulation of genes

JOURNAL ARTICLE published 2014 in Molecular Cytogenetics

Authors: Rakesh Mishra

https://doi.org/10.1186/1755-8166-7-s1-i25 Actions

Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples

JOURNAL ARTICLE published December 2019 in Molecular Cytogenetics

Authors: Ting Wang | Congmian Ren | Dan Chen | Jian Lu | Li Guo | Laiping Zheng | Yuan Liu | Hanbiao Chen

https://doi.org/10.1186/s13039-019-0449-x Actions
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