Results 201 to 210 of about 44,278 (289)

From Genomic and Epigenomic Maps to Medicines in Adult T‐Cell Leukemia/Lymphoma

Cancer Science, EarlyView.
ABSTRACT Adult T‐cell leukemia/lymphoma (ATL) is an aggressive and refractory hematologic malignancy that is caused by human T‐cell leukemia virus type‐1 (HTLV‐1) retrovirus. ATL results from a combination of viral latency and the accumulation of abnormalities throughout the genome, epigenome, transcriptome, and signaling pathways.
Kako Suzuki, Makoto Yamagishi
wiley   +1 more source

Performance and clinical implications of non-invasive prenatal testing for rare chromosomal abnormalities: a retrospective study of 94,125 cases. [PDF]

Front Mol Biosci
Qi H, Chen H, Zhang Z, Gan J, Liu H, Yuan X, Luo F, Chen J, Shen S.   +8 more
europepmc   +1 more source

Mixed Gonadal Dysgenesis: A Comprehensive Review of Clinical Spectrum, Diagnostic Strategies, and Management Approaches

Clinical Endocrinology, EarlyView.
ABSTRACT Background Mixed gonadal dysgenesis (MGD) is a rare form of differences in sex development (DSD) typically associated with 45,X/46,XY mosaicism. The phenotypic presentation of MGD varies from atypical genitalia to typical male or female appearances often associated with Turner stigmata.
Dinesh Giri, Sushil Yewale, Hannah Hickingbotham, Cara Williams, Mohamed Shalaby, Julie Alderson, Julie Park   +6 more
wiley   +1 more source

Cancer: From a Genetic Disorder to a Systemic Disease. [PDF]

Adv Sci (Weinh)
Wong AH, Hu Y.
europepmc   +1 more source

Karyotypes of Four Rats (Rodentia: Muridae) from Sulawesi (Celebes), Indonesia

, 1976
John F. Duncan, HMC USN
openalex   +2 more sources

Monolobated megakaryocytes and ring sideroblasts: A morphological prelude to multihit TP53 and complex karyotype

British Journal of Haematology, EarlyView.
Javier Marco‐Ayala, Tzu Chen, Francisco José Ortuño, María Luisa Lozano   +3 more
wiley   +1 more source

Prenatal Diagnosis of MSL2‐Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication

Clinical Genetics, EarlyView.
We hereby report the first prenatal diagnosis of MSL2‐related pathology, namely ventriculomegaly. Favorable 11‐month follow‐up illustrates the challenges in predicting postnatal outcomes for genetic anomalies linked to recently characterized phenotypes with limited documented cases.
Omar Zgheib, Thomas Rio Frio, Jean‐Marie Pellegrinelli, Stefania Gimelli, Caterina Marconi, Delphine Le Mercier, Monica Rebollo Polo, Céline Habre, Joël Fluss, Russia Ha‐Vinh Leuchter, Marc Abramowicz, Rosalinda Giannini, Siv Fokstuen   +12 more
wiley   +1 more source

Deletion of the Mis12C-Binding Domain of CENP-C Promotes Chromosomal Aneuploidy in Cutaneous Squamous Cell Carcinoma. [PDF]

Cancer Sci
Saito M, Okumura K, Tokunaga Y, Tanaka S, Otoyama K, Hasegawa Y, Hara M, Hashimoto M, Fujimori T, Fukagawa T, Wakabayashi Y.   +10 more
europepmc   +1 more source

Chromosomes and Karyotype of the Indian Pangolin, Manis crassicaudata Gray(Pholidota-Mammalia).

, 2000
N. V. Aswathanarayana
openalex   +2 more sources

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source