Results 111 to 120 of about 358,287 (205)

Genetic analysis of three familial cases of pure terminal 19p13.3 duplication caused by maternal balanced translocation t(19;21) (p13.3;p12). [PDF]

Front Genet
Chen JY, Cai MJ, Chen XL, Ge YS.
europepmc   +1 more source

TP53 Amplification, a Rare but Recurrent Alteration in Myeloid Neoplasms. [PDF]

Genes Chromosomes Cancer
Stengel A, Meggendorfer M, Haferlach T, Walter W.   +3 more
europepmc   +1 more source

Draft genome sequence of a human isolate of <i>Taiozyma onychis</i>. [PDF]

Microbiol Resour Announc
James SA, Baker DJ, Uyl C, Carding SR, Buscaino A.   +4 more
europepmc   +1 more source

Case Report: Prenatal genetic analysis of a rare fetus with 45, X/46, X, dic r (Y; Y)/46, X, r(Y) karyotype. [PDF]

Front Genet
Deng G, Liang X, Lai Y, Song J, Pan J, Lu Y, Li L, Liang Y.   +7 more
europepmc   +1 more source

Abnormal Ultrasonography Overcomes NIPT's Inherent Limitations: Revealing Two Cases of NIPT False Negatives Caused by Trisomy 21 Mosaicism and a Literature Review. [PDF]

Int J Womens Health
Mu Y, Jing Y, Liu X, Lin F, He Q, Li Y, Ming X, Chen G, Wang Y, Zhu T.   +9 more
europepmc   +1 more source

Automated karyotyping and structural anomaly detection through a hybrid multi-stage deep learning framework integrating chromosome detection, pairwise classification, and autoencoder-based analysis. [PDF]

Sci Rep
Rosas-Alatriste C, Rodríguez-Rodríguez NO, Argüelles-Cruz AJ, Rosas-Cabral A, Yáñez-Márquez C, Alarcón-Paredes A.   +5 more
europepmc   +1 more source

Complex Genomic Alterations in TP53-Mutated Myelodysplastic Syndrome and Acute Myeloid Leukemia Involving EPOR/JAK2 Amplification, ERG Copy Gains, and TCF3 Deletion. [PDF]

Genes Chromosomes Cancer
Gindina TL, Riumin SS, Barkhatov IM, Gracheva TY, Bug DS, Babenko EV, Morozova EV, Tsvetkov NY, Mamaev NN, Kulagin AD.   +9 more
europepmc   +1 more source

An integrated AI pipeline for automated cytogenetic analysis of bone marrow karyograms in hematological malignancies: A Pix2Pix enhancement and deep learning detection approach. [PDF]

J Pathol Inform
Alsubaie L, Alsobaie S, Alhammad N, Aldhubayi L, Al-Shaikh Y.   +4 more
europepmc   +1 more source

Baseline Frequency of Chromosomal Aberrations in Control Donors: A Significant Value for Population Monitoring During the Development of the Nuclear Energy Industry-Polish Dataset. [PDF]

Toxics
Sommer S, Buraczewska I, Korzeniowska-Sobczuk A, Sikorska K.   +3 more
europepmc   +1 more source

The Chromosomal Organization of Isleria hauxwelli and Its Meaning for the Karyotypic Evolution in Thamnophilidae (Passeriformes). [PDF]

Anim Genet
Ferreira PVM, Ribas TFA, Monteiro AN, de Silva Tembra LG, de Andrade Machado M, O'Brien PCM, Ferguson-Smith MA, Yang F, Nagamachi CY, Pieczarka JC.   +9 more
europepmc   +1 more source