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Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family

JOURNAL ARTICLE published December 2022 in Molecular Cytogenetics

Authors: Wenjuan Tang | Guowei Chen | Jingshu Xia | Ying Zhang

Functional consequences of copy number variants in miscarriage

JOURNAL ARTICLE published December 2015 in Molecular Cytogenetics

Authors: Jiadi Wen | Courtney W Hanna | Sally Martell | Peter CK Leung | Suzanne ME Lewis | Wendy P Robinson | Mary D Stephenson | Evica Rajcan-Separovic

Genome wide noninvasive prenatal testing detects microduplication of the distal end of chromosome 15 in a fetus: a case report

JOURNAL ARTICLE published December 2022 in Molecular Cytogenetics

Authors: Hana Sahinbegovic | Stephanie Andres | Sabine Langer-Freitag | Aspasia Divane | Fotini Ieremiadou | Senad Mehmedbasic | Aida Catic

A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics

JOURNAL ARTICLE published December 2014 in Molecular Cytogenetics

Authors: Magdalini Lagou | Ioannis Papoulidis | Sandro Orru | Vasileios Papadopoulos | George Daskalakis | Maria Kontodiou | Eleftherios Anastasakis | Michael B Petersen | George Kitsos | Loretta Thomaidis | Emmanouil Manolakos

Microdeletion syndromes

JOURNAL ARTICLE published 2014 in Molecular Cytogenetics

Authors: Chaitanya Datar

A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man

JOURNAL ARTICLE published 2008 in Molecular Cytogenetics

Authors: Laura Rodríguez | Tomas Liehr | María Martínez-Fernández | Ana Lara | Antonio Torres | María Martínez-Frías

Retrospective analysis of the clinical features of 172 patients with BCR-ABL1-negative chronic myeloproliferative neoplasms

JOURNAL ARTICLE published December 2020 in Molecular Cytogenetics

Research funded by Joint Funds for the innovation of science and Technology (2018Y9036)

Authors: Xiaolan Lin | Huifang Huang | Ping Chen

An unusual T-cell childhood acute lymphoblastic leukemia harboring a yet unreported near-tetraploid karyotype

JOURNAL ARTICLE published December 2011 in Molecular Cytogenetics

Authors: Daniela RN Garcia | Samarth Bhatt | Marina Manvelyan | Mariana T de Souza | Renata Binato | Thais F Aguiar | Eliana Abdelhay | Maria Luiza M Silva

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

JOURNAL ARTICLE published December 2015 in Molecular Cytogenetics

Authors: Jiangbo Dang | Qian Zhao | Xing Yang | Zhi Chen | Suqiong Xiang | Guolu Liang

Gross genetic alterations and genetic heterogeneity in a periductal stromal tumor of the breast

JOURNAL ARTICLE published December 2020 in Molecular Cytogenetics

Authors: Carsten Holzmann | Burkhard Helmke | Joern Bullerdiek

Characterization of telomeric repeats in metaphase chromosomes and interphase nuclei of Syrian Hamster Fibroblasts

JOURNAL ARTICLE published December 2012 in Molecular Cytogenetics

Authors: Liudmila V Solovjeva | Sergey Ju Demin | Nadezhda M Pleskach | Maria O Kuznetsova | Maria P Svetlova

A Balanced Reciprocal Translocation T (X;20) in A Girl with Seizures and Intellectual Disability Disrupting ARHGEF9

JOURNAL ARTICLE published 2014 in Molecular Cytogenetics

Authors: Usha R Dutta | Vijaya Kumar Pidugu | Vera M Kalscheuer | Ashwin B Dalal

Prenatal diagnosis of mosaic trisomy 2 and literature review

JOURNAL ARTICLE published December 2020 in Molecular Cytogenetics

Authors: Ting Wang | Jufei Lian | Congmian Ren | Huamei Huang | Yanlin Huang | Ling Xu | Laiping Zheng | Chanhui Cai | Li Guo

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

JOURNAL ARTICLE published December 2017 in Molecular Cytogenetics

Authors: Lana Stavber | Sara Bertok | Jernej Kovač | Marija Volk | Luca Lovrečić | Tadej Battelino | Tinka Hovnik

Identification of mutations in bone morphogenetic protein 2, 4 and 7 in congenital heart disease patients from Indian population

JOURNAL ARTICLE published 2014 in Molecular Cytogenetics

Authors: Ritu Bhardwaj | Damyanti Agrawal | Ashok Kumar | Bhagyalaxmi Mohapatra

Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion

JOURNAL ARTICLE published December 2014 in Molecular Cytogenetics

Authors: Annalisa Vetro | Sara Pagani | Margherita Silengo | Mariasavina Severino | Elena Bozzola | Cristina Meazza | Orsetta Zuffardi | Mauro Bozzola

Genetic variation of ITGB3 is associated with Autism Spectrum Disorders (ASD) in South Indian children

JOURNAL ARTICLE published 2014 in Molecular Cytogenetics

Authors: Femina KMB Nair | PA Suresh | Moinak Banerjee

Molecular studies on ARX gene in syndromic and non-syndromic mental retardation

JOURNAL ARTICLE published 2014 in Molecular Cytogenetics

Authors: Gayatri Kulkarni | Suvidya Ranade

CD36 gene variants and their potential in determining T2DM susceptibility

JOURNAL ARTICLE published 2014 in Molecular Cytogenetics

Authors: Monisha Banerjee | Sunaina Gautam | CG Agrawal

Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases

JOURNAL ARTICLE published December 2018 in Molecular Cytogenetics

Authors: Donatella Conconi | Nicoletta Villa | Serena Redaelli | Elena Sala | Francesca Crosti | Silva Maitz | Miriam Rigoldi | Rossella Parini | Leda Dalprà | Marialuisa Lavitrano | Gaia Roversi