Results 261 to 270 of about 113,215 (275)

Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance

Clinical Genetics, EarlyView.
This review primarily summarizes the genetic defects in Müllerian anomalies, the tools used to validate these genetic defects, and the future clinical significance of identifying the precise genetic etiology of Müllerian anomalies. ABSTRACT Müllerian anomalies are a collection of heterogeneous anatomical disorders of the female genital tract that ...
Jingfang Li, Xin Hou, Xiangyu Wang, Juan Li, Li Li, Xiangyi Ma   +5 more
wiley   +1 more source

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

Developmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future consultations. Method This retrospective diagnostic cohort study compared the imaging
Avi Shariv, Michal Gafner, Zvi Leibovitz, Letizia Schreiber, Dvora Kidron, Ayala Arad, Efrat Hadi, Stephanie Libzon, Liat Ben Sira, Maya Goldschmidt Manor, Dorit Lev, Tally Lerman‐Sagie, Liat Gindes   +12 more
wiley   +1 more source

Reproductive outcomes in couples with recurrent pregnancy loss after embryonic chromosomal microarray analysis. [PDF]

J Assist Reprod Genet
Li Y, Zhou R, Xia Z, Meng L, Huang M, Hu P, Xu Z, Wang Y.   +7 more
europepmc   +1 more source

Lennox–Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy‐insights from the Genoa International Workshop

Epilepsia, EarlyView.
Abstract Lennox–Gastaut syndrome (LGS) is one of the most severe, yet one of the most discussed, childhood‐onset developmental and epileptic encephalopathies (DEEs). Dissent among epileptologists on the definition and minimum set of electroclinical features derives from the high etiological heterogeneity within the syndrome, which could make its ...
Antonella Riva, Gianluca D'Onofrio, Elisabetta Amadori, Alexis Arzimanoglou, Stéphane Auvin, Irene Bagnasco, Paola Barabino, Valentina Biagioli, Isabella Brambilla, Giuliana Cangemi, Antonietta Coppola, Antonella De Lillo, Carlo Di Bonaventura, Giancarlo Di Gennaro, Edoardo Ferlazzo, Antonio Gil‐Nagel, Giuseppe Gobbi, Simona Lattanzi, Gerhard Kluger, Günter Krämer, Maria Margherita Mancardi, Carlo Minetti, Lino Nobili, Elisa Paravati, Milka Pringsheim, Erika Rebessi, Antonino Romeo, Angelo Russo, Emilio Russo, Katia Santoro, Susanne Schubert‐Bast, Laura Siri, Jo Sourbron, Maria Stella Vari, Alberto Verrotti, Flavio Villani, Maurizio Viri, Celina von Stülpnagel, Nelia Zamponi, Federico Zara, Pasquale Striano   +40 more
wiley   +1 more source

P772: Optimal amniotic fluid volume required for direct chromosomal microarray analysis

Genetics in Medicine Open
Lina Ibrahim, Elizabeth McCready, Stephanie Winsor   +2 more
doaj   +1 more source

CLEC18A interacts with sulfated glycosaminoglycans and controls clear cell renal cell carcinoma progression

The FEBS Journal, EarlyView.
CLEC18A is a previously poorly characterized C‐type lectin. We mapped the expression of CLEC18A to the proximal tubule of the kidney and found CLEC18A to interact with sulfated glycosaminoglycans on proteoglycans. Furthermore, we found that CLEC18A plays an important role in hindering the progression of clear cell renal cell carcinomas in humans and in
Gustav Jonsson, Maura Hofmann, Stefan Mereiter, Lauren Hartley‐Tassell, Masahiro Onji, Irma Sakic, Tiago Oliveira, David Hoffmann, Maria Novatchkova, Alexander Schleiffer, Josef M. Penninger   +10 more
wiley   +1 more source

Behind the scenes: how the EMILIN/Multimerin family shapes the cancer landscape

The FEBS Journal, EarlyView.
The EMILIN/Multimerin family members regulate key hallmarks of cancer—including apoptosis, angiogenesis, metastasis, and tumor microenvironment remodeling. As indicated, their function in immune evasion, drug resistance, and metabolic reprogramming remains largely unexplored.
Evelina Poletto, Naike Casagrande, Emanuele Di Siena, Greta Carobolante, Lucrezia Camicia, Giorgia Schinello, Samanta Muzzin, Enrica Timis, Paola Spessotto, Maurizio Mongiat   +9 more
wiley   +1 more source

Transcriptional regulation of human NMNAT2: insights from 3D genome sequencing and bioinformatics

The FEBS Journal, EarlyView.
NMNAT2 is a valuable drug target, as low levels increase the risk of neurodegeneration. We employed 4C‐seq to identify NMNAT2 regulatory regions in the human genome, revealing distinct interactomes of the NMNAT2 promoter in undifferentiated and neuron‐like SH‐SY5Y cells. Additionally, we uncovered NMNAT2‐associated genes and transcription factors. This
Yu Chen Chang, Sen Yang, Minyoung Cho, Kwangsik Nho, José‐Manuel Baizabal, Hui‐Chen Lu   +5 more
wiley   +1 more source

Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Sickle cell disease (SCD) is one of the most frequent monogenic diseases worldwide and a highly heterogeneous and complex disease. SCD care carries several challenges. This includes early and accurate diagnosis as well as optimal red blood cell transfusion matching in this population carrying a high risk of alloimmunization.
Thomas Pincez, Yves D. Pastore
wiley   +1 more source