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Next generation diagnostics on cardiomyopathy

JOURNAL ARTICLE published 2014 in Molecular Cytogenetics

Authors: Jean-Louis Blouin | Jeremy Bevillard | Periklis Makrythanasis | Michel Guipponi | Federico Santoni | Stylianos E Antonarakis | Siv Fokstuen

Role of IL-6/JAK/STAT pathway in inducing vascular insulin resistance

JOURNAL ARTICLE published 2014 in Molecular Cytogenetics

Authors: Aswath Balakrishnan | Kapaettu Satyamoorthy | Manjunath B Joshi

Centromeric association of small supernumerary marker chromosomes with their sister-chromosomes detected by three dimensional molecular cytogenetics

JOURNAL ARTICLE published December 2012 in Molecular Cytogenetics

Authors: Elisabeth Klein | Marina Manvelyan | Isabella Simonyan | Ahmed B Hamid | Roberta Santos Guilherme | Thomas Liehr | Tatyana Karamysheva

Submicroscopic aberrations of chromosome 16 in prenatal diagnosis

JOURNAL ARTICLE published December 2019 in Molecular Cytogenetics

Research funded by Fujian Provincial Natural Science Foundation (No. 2017J01238)

Authors: Xiaoqing Wu | Liangpu Xu | Ying Li | Na Lin | Linjuan Su | Meiying Cai | Xiaorui Xie | Lin Zheng | Hailong Huang | Yuan Lin

GIN'n'CIN hypothesis of brain aging: deciphering the role of somatic genetic instabilities and neural aneuploidy during ontogeny

JOURNAL ARTICLE published 2009 in Molecular Cytogenetics

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

19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome

JOURNAL ARTICLE published December 2016 in Molecular Cytogenetics

Research funded by the National Natural Science Foundation of China (81470445,81370204)

Authors: Hai-Yun Dong | Hui Zeng | Yi-Qiao Hu | Li Xie | Jian Wang | Xiu-Ying Wang | Yi-Feng Yang | Zhi-Ping Tan

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

JOURNAL ARTICLE published December 2015 in Molecular Cytogenetics

Research funded by Javna Agencija za Raziskovalno Dejavnost RS (P3-0326)

Authors: Irena Vrečar | Gorazd Rudolf | Borut Peterlin | Luca Lovrecic

De novo 1Mb interstitial deletion of 8p22 in a patient with slight mental retardation and speech delay

JOURNAL ARTICLE published 2014 in Molecular Cytogenetics

Authors: Giovanna Piovani | Giulia Savio | Michele Traversa | Alba Pilotta | Giuseppina De Petro | Sergio Barlati | Chiara Magri

Head and neck cancer: searching for genomic and epigenetic biomarkers in body fluids – the state of art

JOURNAL ARTICLE published December 2019 in Molecular Cytogenetics

Research funded by HEALTHY AGING 2020 (CENTRO-01-0145-FEDER-000012)

Authors: Ilda Patrícia Ribeiro | Joana Barbosa de Melo | Isabel Marques Carreira

The paradox of longer sperm telomeres in older men’s testes: a birth-cohort effect caused by transgenerational telomere erosion in the female germline

JOURNAL ARTICLE published December 2016 in Molecular Cytogenetics

Authors: Reinhard Stindl

A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities

JOURNAL ARTICLE published December 2015 in Molecular Cytogenetics

Authors: Haiming Yuan | Lina Zhang | Mengfan Chen | Junping Zhu | Zhe Meng | Liyang Liang

The first patient with a pure 1p36 microtriplication associated with severe clinical phenotypes

JOURNAL ARTICLE published December 2014 in Molecular Cytogenetics

Authors: Fang Xu | Ya-Nan Zhang | De-Hua Cheng | Ke Tan | Chang-Gao Zhong | Guang-Xiu Lu | Ge Lin | Yue-Qiu Tan

Yuri B. Yurov (1951-2017)

JOURNAL ARTICLE published December 2018 in Molecular Cytogenetics

Authors: Ivan Y. Iourov | Svetlana G. Vorsanova

IL 10 gene -1082 G/A shows an associatoin with rheumatoid arthritis patients of South Indian Population

JOURNAL ARTICLE published 2014 in Molecular Cytogenetics

Authors: EK Priya | Moinak Banerjee | S Rajesh | K Sasikala

Role of miRNA binding site SNPs in candidate genes in a North Indian schizophrenia cohort

JOURNAL ARTICLE published 2014 in Molecular Cytogenetics

Authors: Jibin John | Smita N Deshpande | Vishwajit L Nimgaonkar | BK Thelma

Digital health, microfluidics, and bedside genetic testing

JOURNAL ARTICLE published 2014 in Molecular Cytogenetics

Authors: Syed Hashsham

Selection of suitable housekeeping genes for gene expression analysis in glioma using quantitative real-time PCR

JOURNAL ARTICLE published 2014 in Molecular Cytogenetics

Authors: Madhuri GS Aithal | Narayanappa Rajeswari

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

JOURNAL ARTICLE published December 2015 in Molecular Cytogenetics

Research funded by Changjiang Scholars and the Innovative Research Team in University (IRT1230) | International Science & Technology Cooperation Program of China (2013DFA31610) | National Natural Science Foundation of China (81372784)

Authors: Jie Xu | Peng Liu | Xiangning Meng | Jing Bai | Songbin Fu | Rongwei Guan | Wenjing Sun

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

JOURNAL ARTICLE published December 2018 in Molecular Cytogenetics

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

Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population – case report

JOURNAL ARTICLE published December 2020 in Molecular Cytogenetics

Authors: Anna Repczynska | Agata Pastorczak | Katarzyna Babol-Pokora | Jolanta Skalska-Sadowska | Malgorzata Drozniewska | Wojciech Mlynarski | Olga Haus