Results 91 to 100 of about 27,023 (191)

The Incremental Yield of CMA Over Karyotype in Fetal Growth Restriction-A Systematic Review and Meta-Analysis. [PDF]

Prenat Diagn
Sapantzoglou I, Kontogeorgi E, Pergialiotis V, Tasias K, Rouvali A, Pegkou A, Theodora M, Daskalakis G, Antsaklis P.   +8 more
europepmc   +1 more source

Detection of chromosomal and gene abnormality with karyotyping, chromosomal microarray analysis and trio-based whole exome sequencing in pregnancies with fetal growth restriction: implications for precise prenatal diagnosis. [PDF]

BMC Pregnancy Childbirth
Chen Y, Cai M, Chen M, Pan X, Shen X, Song B, Cai X, Zhou L, Huang H.   +8 more
europepmc   +1 more source

Phenotypic Spectrum and Chromosomal Discordance in Alobar Holoprosencephaly: A Comparative Case Series from a Tertiary Referral Center. [PDF]

Int Med Case Rep J
Caropeboka MFA, Nisa AS, Pramatirta AY, Pribadi A, Mose JC.   +4 more
europepmc   +1 more source

Optical genome mapping detects cryptic high‐risk and targetable abnormalities in adult AML

British Journal of Haematology, EarlyView.
Summary Acute myeloid leukaemia (AML) risk stratification relies on cytogenetic and molecular abnormalities defined by European LeukemiaNet (ELN) 2022. Conventional cytogenetic techniques, including chromosomal banding analysis (CBA) and fluorescence in situ hybridization, have limited resolution and may miss cryptic events. Optical genome mapping (OGM)
Audrey Bidet, Elodie Laharanne, Manon Dos Santos, Anne‐Charlotte De Grande, Thibaut Leguay, Arnaud Pigneux, Eric Frison, Sandrine Achard, Stéphanie Dupont‐Moufakkir, Emilie Klein, Pierre‐Yves Dumas   +10 more
wiley   +1 more source

Comparative Diagnostic Assessment of Karyotyping, Microarray, and Whole Exome Sequencing in Genetically Associated Fetal Growth Restriction. [PDF]

Diagnostics (Basel)
Luo L, Chen C, Cheung CKY, Li Y, Dai X, Zeng T, Wang Y.   +6 more
europepmc   +1 more source

Case Report: Expanding the diagnostic spectrum of non-invasive prenatal testing to structural chromosomal abnormalities. [PDF]

Front Genet
Kim JC, Kim H, Jang H, Go M, Park JE, Ryu CS, Chin MU, Kim EH, Lee YJ, Shim SH, Cha DH.   +10 more
europepmc   +1 more source

Tracking karyotype dynamics by flow cytometry reveals de novo chromosome duplications in laboratory cultures of Macrostomum lignano. [PDF]

Biol Open
Mouton S, Glazenburg L, Berezikov E.
europepmc   +1 more source

Short and complex—Telomeres and genomes in CLL

British Journal of Haematology, EarlyView.
Chronic lymphocytic leukaemia (CLL) with complex karyotype (CK) represents a high‐risk subgroup, often associated with refractory disease. In a patient cohort enriched for CK CLL, short telomeres were found to be associated with poor‐risk characteristics such as unmutated immunoglobulin heavy chain variable region (IGHV), del(11q)/del(17p), CK/genomic ...
Billy Michael Chelliah Jebaraj, Stephan Stilgenbauer   +1 more
wiley   +1 more source

Kallmann Syndrome in a 30-Year-Old Female With Primary Infertility: A Case Report. [PDF]

Case Rep Obstet Gynecol
Soryadharma A, Ritonga MA, Permadi W.
europepmc   +1 more source

ABSTRACTS

Precision Radiation Oncology, EarlyView.
wiley   +1 more source