Results 231 to 240 of about 164,447 (333)

Monolobated megakaryocytes and ring sideroblasts: A morphological prelude to multihit TP53 and complex karyotype. [PDF]

Br J Haematol
Marco-Ayala J, Chen T, Ortuño FJ, Lozano ML.   +3 more
europepmc   +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

Partial Monosomy 21q Due to De Novo t(15;21)(q26.3;q22.11): A Case Report with Clinical and Molecular Findings. [PDF]

Appl Clin Genet
Nojehdeh ST, Fattahi T, Arish S, Mokabber H, Nobakht R, Davarnia S, Davarnia B.   +6 more
europepmc   +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

Familial Xq27.1q28 duplication arising from a maternal interarm forward insertion of the X chromosome: a case report. [PDF]

Front Genet
Li X, Peng YM, Luo BW, Luo YD, Qin YR, Feng K, Li DR, Yang ZY, Zhu LL, Pan JJ, Song JJ, Liang J, Liu WW, Deng GS.   +13 more
europepmc   +1 more source

Venetoclax plus hypomethylating agents as effective bridge therapy to allogeneic stem cell transplant in relapsed/refractory acute myeloid leukaemia: A subanalysis of the AVALON study

British Journal of Haematology, EarlyView.
Elisabetta Petracci, Francesca Pavesi, Luca Castagna, Patrizia Zappasodi, Cristina Papayannidis, Calogero Vetro, Vincenzo Federico, Alessandro Cignetti, Erika Borlenghi, Nicola Fracchiolla, Luca Facchini, Luca Maurillo, Ernesta Audisio, Massimo Bernardi, Felicetto Ferrara, Francesco Lanza, Carmine Selleri, Ilenia Manfra, Claudio Cerchione, Jacopo Nanni, Andrea Davide Romagnoli, Giovanni Marconi, Chiara Zingaretti, Ivana Lotesoriere, Federica Gigli, Giovanni Martinelli, Elisabetta Todisco   +26 more
wiley   +1 more source

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies—30 Years' Experience From a Third Level Center

Clinical Genetics, EarlyView.
Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti, Erica Rosina, Camilla Meossi, Michela Mura, Lidia Pezzani, Angelo Selicorni, Maria Francesca Bedeschi, Romano Tenconi, Carlo Agostoni, Palma Finelli, Sara De Matteis, Elisabetta Di Fede, Valentina Massa, Laura Pezzoli, Cristina Gervasini, Maria Iascone, Donatella Milani   +16 more
wiley   +1 more source

Lycoris × xiui, a new wild nothospecies from Anhui, China, a hybrid between <i>L. longituba</i> and <i>L. sprengeri</i> (Amaryllidaceae). [PDF]

PhytoKeys
Hu YF, Xu ZZ, Zhu KR, Si XY, Shao JW, Zhang SY, Tang J.   +6 more
europepmc   +1 more source

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency

Clinical Genetics, EarlyView.
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou, Helen Turner, Deborah Shears, Fredrik Karpe   +3 more
wiley   +1 more source

Application of noninvasive prenatal testing-plus in fetal ultrasound cardiovascular abnormalities: An observational study. [PDF]

Medicine (Baltimore)
Jin K, Xu X, Shen S, Hu M, Luo J, Li N.
europepmc   +1 more source