Results 151 to 160 of about 2,581,325 (340)

Dissecting Pirtobrutinib Resistance in Mantle Cell Lymphoma Through Single‐Cell Multi‐Omics

American Journal of Hematology, EarlyView.
ABSTRACT Pirtobrutinib (PBN), a non‐covalent BTK inhibitor, has been approved by the FDA for relapsed/refractory mantle cell lymphoma (MCL); however, resistance to PBN has been observed. To dissect the molecular dynamics driving PBN resistance, we performed integrative single‐cell multi‐omic profiling (scRNA‐seq, scATAC‐seq, and scDNA‐seq) on ...
Fangfang Yan, Yang Liu, Heng‐Huan Lee, Wei Wang, Joseph McIntosh, Yijing Li, Jovanny Vargas, Yue Fei, Sairah Ahmed, Lukas M. Simon, Michael Wang   +10 more
wiley   +1 more source

Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first‐trimester screening for chromosomal abnormalities

Ultrasound in Obstetrics and Gynecology, 2017
A. Syngelaki, L. Guerra, I. Ceccacci, T. Efeturk, K. Nicolaides   +4 more
semanticscholar   +1 more source

Circulating Tumor Cells in Multiple Myeloma: From Peripheral Clues to Central Insights

American Journal of Hematology, EarlyView.
CTC offer a minimally invasive widow into systemic myeloma biology, overcoming the sampling bias of bone marrow biopsies. Their prognostic value at diagnosis, potential role in MRD monitoring, and ability to capture clonal evolution highlight them as actionable biomarkers for future precision medicine.
Benjamin Podvin, Bruno Paiva, Irene M. Ghobrial, Salomon Manier   +3 more
wiley   +1 more source

Prenatal diagnosis of fetuses with ultrasound soft markers

BMC Pregnancy and Childbirth
Objective This study aims to evaluate the association between ultrasound soft markers and fetal chromosomal abnormalities and to compare the diagnostic efficacy of karyotype analysis versus chromosomal microarray analysis (CMA) for prenatal testing ...
Qianzhu Jiang, Chang Tan, Lin Yuan, Aziz Ur Rehman Aziz, Haihua Yu, Xiliang Wang   +5 more
doaj   +1 more source

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Experience of copy number variation sequencing applied in spontaneous abortion

BMC Medical Genomics
Purpose We evaluated the value of copy number variation sequencing (CNV-seq) and quantitative fluorescence (QF)-PCR for analyzing chromosomal abnormalities (CA) in spontaneous abortion specimens.
Yi-Fang Dai, Xiao-Qing Wu, Hai-Long Huang, Shu-Qiong He, Dan-Hua Guo, Ying Li, Na Lin, Liang-Pu Xu   +7 more
doaj   +1 more source

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (NSD1) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay.
Sejin Kim, Jung Sook Ha, Jun Chul Byun
wiley   +1 more source

Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials.

Blood, 2010
D. Grimwade, R. Hills, A. Moorman, H. Walker, S. Chatters, A. Goldstone, K. Wheatley, C. Harrison, A. Burnett   +8 more
semanticscholar   +1 more source

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde, Jessica Klusek, Linda D. Ward, Diana Ivankovic, Nancy Powers, Vijay Shankar, Rachel A. Lyman, Trudy F. C. Mackay, William Bridges, Katy Phelan, Curtis Rogers, Luigi Boccuto, Sara M. Sarasua   +12 more
wiley   +1 more source