Results 201 to 210 of about 109,479 (290)

The assessing of clinical relevance of chromosomal microarray analysis in the prenatal diagnosis of fetal growth restriction. [PDF]

BMC Pregnancy Childbirth
Li P, Wu W, Zhang X, Li Y, Liu M, Wang Y, Man D, Wang F.   +7 more
europepmc   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, EarlyView.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

Phase Determination and Demonstration of Parental Mosaicism of Intragenic <i>PRKN</i> Deletions Initially Identified by Chromosomal Microarray Analysis. [PDF]

Genes (Basel)
Choate LA, Hoffman F, Newman JH, Runke C, Webley M, Hoppman NL, Thorland EC.   +6 more
europepmc   +1 more source

Monitoring of haematopoietic stem cell mobilization by targeted DNA methylation analysis for the British Journal of Haematology

British Journal of Haematology, EarlyView.
Wouter H. G. Hubens, Anke Diehlmann, Patrick Wuchter, Wolfgang Wagner   +3 more
wiley   +1 more source

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

Application of Chromosomal Karyotype Analysis Combined With Chromosomal Microarray Analysis in the Amniotic Fluid of Advanced Maternal Age. [PDF]

J Clin Lab Anal
Liu C, Lu Y, Zhang B, Yu L, He J, Ji Y.
europepmc   +1 more source

Causal subgroups and declining rates of cerebral palsy in Victoria, Australia

Developmental Medicine &Child Neurology, EarlyView.
In this population‐based study, the main contributors to declining rates of cerebral palsy in Victoria, Australia, were causal subgroups involving presumed perinatal brain insults in neonates born preterm and at term requiring higher nursery care.
Susan M. Reid, Gina L. Hinwood, Angela T. Guzys, Rod W. Hunt, Dinah S. Reddihough   +4 more
wiley   +1 more source

Evaluating Chromosomal Mosaicism in Prenatal Diagnosis: The Complementary Roles of Chromosomal Microarray Analysis and Karyotyping. [PDF]

J Clin Lab Anal
Xu C, Xiong Y, Wang D, Zhang S, Wu X, Li M.   +5 more
europepmc   +1 more source

Behind the scenes: how the EMILIN/Multimerin family shapes the cancer landscape

The FEBS Journal, EarlyView.
The EMILIN/Multimerin family members regulate key hallmarks of cancer—including apoptosis, angiogenesis, metastasis, and tumor microenvironment remodeling. As indicated, their function in immune evasion, drug resistance, and metabolic reprogramming remains largely unexplored.
Evelina Poletto, Naike Casagrande, Emanuele Di Siena, Greta Carobolante, Lucrezia Camicia, Giorgia Schinello, Samanta Muzzin, Enrica Timis, Paola Spessotto, Maurizio Mongiat   +9 more
wiley   +1 more source

Prenatal diagnosis and genetic assessment of fetuses with single umbilical artery using chromosomal microarray analysis: a seven-year single-center retrospective study. [PDF]

BMC Pregnancy Childbirth
Zhuang J, Huang N, Chen Y, Wu J, Ye X, Chen C.   +5 more
europepmc   +1 more source