Results 151 to 160 of about 59,286 (281)

Gonadal Development–Related Genes and a Male‐Specific Genetic Marker Identified in the Endangered Sichuan Taimen (Hucho bleekeri)

Integrative Zoology, EarlyView.
Integrated transcriptomic and proteomic analyses were used to validate gonadal development–related genes and to identify a sex‐specific molecular marker in Hucho bleekeri. ABSTRACT Sex determination and differentiation represent fundamental topics in reproductive biology. Sichuan taimen (Hucho bleekeri), a first‐class national protected fish species in
Qinyao Wei, Hua Li, Yeyu Chen, Huanchao Yang, Jun Du, Zhaobin Song   +5 more
wiley   +1 more source

Application of chromosomal microarray analysis for fetuses with nasal bone agenesis or hypoplasia. [PDF]

Mol Cytogenet
Jin K, Xu X, Zhang J, Qian Y, Yang Y, Shen S, Hu M, Luo J, Li N.   +8 more
europepmc   +1 more source

Free Fetal DNA Testing to Guide Early Intervention in the Management of the Kell Alloimmunized Pregnancy

Prenatal Diagnosis, EarlyView.
Kenneth J. Moise Jr, Thomas Trevett, Stephanie Moench, Erin Moise   +3 more
wiley   +1 more source

Integrated Methylome–Transcriptome Analysis Reveals Epigenomic Remodeling and Rho GTPase–Linked Immune–Epithelial Crosstalk in Atopic Dermatitis

Allergy, EarlyView.
Integrated methylome–transcriptome–microbiome analysis of AD skin identified thousands of DMRs. Rho GTPase signaling and actin–junctional programs emerged as central hubs integrating immune, epithelial, and microbial interactions in the pathogenesis of atopic dermatitis.
Tiina Skoog, Ying Yang, Peter Olah, Shintaro Katayama, Piia Karisola, Catherine Smith, Stephan Weidinger, Jonathan Barker, Antti Lauerma, Björn Andersson, Bernhard Homey, Nanna Fyhrquist, Juha Kere, Harri Alenius, MAARS Consortium, Francesca Levi‐Schaffer, Dario Greco, Stefanie Prast‐Nielsen, Vassili Soumelis, Sophia Tsoka, Jens M. Schröder, Frank O. Nestle, Philippe Hupé   +22 more
wiley   +1 more source

Clinical Use of Chromosomal Microarray Analysis to Detect Chromosomal

, 2014
Week 2: Theme 1: The Clinic: Making Precision Medicine a Reality Through Genomics - Part 1: Chromosomal and Mendelian DisordersGenomic Medicine Gets Personal-GeorgetownX-MEDX202 ...
Haddad, Bassem
core  

Aniridia‐associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare genetic disorder primarily caused by pathogenic variants of the PAX6 gene. It leads to various panocular anomalies, including aniridia‐associated keratopathy (AAK). This review highlights recent insights into its pathogenesis, focusing on clinical staging, microstructural changes in the cornea and molecular ...
N. Szentmáry, S. Suiwal, M. Amini, F. N. Fries, A. Náray, L. Latta, Z. Li, S. Li, S. Liu, S. L. Hsu, S. Kundu, G. Tóth, S. Trusen, J. Zimmermann, B. Seitz, B. Käsmann‐Kellner, Z. Hoxha, A. Langenbucher, O. Stachs, M. Cortón‐Perez, K. Tory, A. Csorba, Z. Z. Nagy, M. C. Acosta, J. Gallar, M. Csidey, E. Maka, T. Stachon   +27 more
wiley   +1 more source

Genetic diagnosis in fetal hydronephrosis: assessment using chromosomal microarray analysis and whole-genome sequencing. [PDF]

Hum Genomics
Wang J, Zhao J, Wang W, Zhu X, Zhang B, Yu B.   +5 more
europepmc   +1 more source

A Novel PPP1R12A Splice‐Site Variant Identified in a Female Fetus With Perineal Hamartoma

Prenatal Diagnosis, EarlyView.
Shiyu Chen, Xi Tan
wiley   +1 more source

Optical genome mapping improves detection and characterisation of cytogenetic abnormalities in non‐Hodgkin lymphomas

British Journal of Haematology, EarlyView.
Optical genome mapping (OGM) is feasible on fresh and frozen tissue lymphoma samples and demonstrated its added value for accurate diagnostic classification. OGM surpasses karyotype and FISH in refining diagnoses of lymphoma, identifying class‐defining rearrangements along with prognostic markers.
Coura Fall, Agnès Daudignon, Séverine Valmary‐Degano, Julie Mondet, Lucile Bussot, Lysiane Molina, Simon Chevalier, Edouard Bonneville, Pierre Aubert, Sylvie Tondeur, Clémentine Legrand, Jean‐Baptiste Gaillard, Hélène Guermouche, Anouk Emadali, Sylvain Carras, Christine Lefebvre   +15 more
wiley   +1 more source

SNP-Based Chromosomal Microarray Analysis in the Era of Optical Genome Mapping: An Enriched Case-Series Evaluating Copy-Neutral Events. [PDF]

Cancers (Basel)
Marr AR, Gonzales PR, Golem S.
europepmc   +1 more source