Results 261 to 270 of about 162,657 (334)

Complete androgen insensitivity syndrome in a 15-year-old female with primary amenorrhea and undescended testes: a rare case report. [PDF]

Radiol Case Rep
Zerin F, Bhadra TK, Sadia R, Shahriar Z.
europepmc   +1 more source

Ring Y chromosome as an unusual cause of severe oligozoospermia. [PDF]

Endocrinol Diabetes Metab Case Rep
Chong S, Muir CA.
europepmc   +1 more source

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

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

Primary CD34+ cells of patients with vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic (VEXAS) syndrome are highly sensitive to targeted treatment with TAK‐243

British Journal of Haematology, EarlyView.
Daniel Nowak, Marie Demmerle, Alessa Klär, Alexander Streuer, Vladimir Riabov, Eva Altrock, Felicitas Rapp, Ann‐Christin Belzer, Teresa Klink, Meret Hahn, Franziska Hofmann, Verena Nowak, Nadine Weimer, Julia Obländer, Iris Palme, Melda Göl, Ali Darwich, Laurenz Steiner, Mohammed Abba, Georgia Metzgeroth, Wolf‐Karsten Hofmann, Nanni Schmitt   +21 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

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

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

A retrospective analysis of 38,652 amniotic fluid karyotype. [PDF]

Front Genet
Ren J, Guan X, Lv W, Yan Y, Si Y, Yang S, Yin C.   +6 more
europepmc   +1 more source

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

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