Results 191 to 200 of about 109,479 (290)

Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder. [PDF]

Mol Genet Genomic Med, 2023
Cucinotta F, Lintas C, Tomaiuolo P, Baccarin M, Picinelli C, Castronovo P, Sacco R, Piras IS, Turriziani L, Ricciardello A, Scattoni ML, Persico AM.   +11 more
europepmc   +1 more source

Enhancing antitumour response to proteasome inhibitors with inhibitors of insulin‐degrading enzyme, a new molecular vulnerability in multiple myeloma

British Journal of Pharmacology, EarlyView.
Inhibitors of insulin‐degrading enzyme boost PI cytotoxicity through an increased sensitivity of proteasome to PI inhibitors, induction of ISR, DNA damage and Myc down‐regulation. They overcome PI resistance in vitro and induce tumour regression in vivo.
Laetitia Lesire, Rebecca Deprez‐Poulain, Damien Bosc, Florence Leroux, Valerie Landry, Sarah Ourabah, Morgane Tardy, Clara Maillard, Ronan Gealageas, Julie Dumont, Adrien Herledan, Sandrine Warenghem, Manon Cruette, Celine Lenglart, Alexandre Biela, Catherine Piveteau, Eva De Smedt, Catharina Muylaert, Wenguang Liang, Elvira Garcia De Paco, Elina Alaterre, Sara Ovejero, Nicolas Robert, Fabien Delahaye, Wei‐Jen Tang, Peter van Endert, Elke De Bruyne, Jérôme Moreaux, Benoit Deprez   +28 more
wiley   +1 more source

Chromosomal Microarray Analysis as a Diagnostic Tool in Congenital Heart Diseases. [PDF]

Mol Syndromol
Esener Z, Ates K, Ozturk M, Karakurt C, Elkiran O, Tekedereli I.   +5 more
europepmc   +1 more source

Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis. [PDF]

Genes (Basel), 2023
Abarca-Barriga HH, Punil Luciano R, Vásquez Sotomayor F.   +2 more
europepmc   +1 more source

Craniofacial Dysmorphology Associated With Phelan–McDermid Syndrome Using Three‐Dimensional Morphometrics

Clinical Genetics, EarlyView.
Using 3D morphometrics quantifies genetic contribution to head and face development. ABSTRACT Phelan–McDermid syndrome (PMS) frequently presents with distinctive facial features, although a typical facial phenotype for this condition has not been well characterized.
Katherine Weisensee, Sara M. Sarasua, Lior Rennert, Curtis Rogers, Katy Phelan, Kara Powder, Luigi Boccuto   +6 more
wiley   +1 more source

A Prospective Evaluation of the Diagnostic Utility for Low-Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis. [PDF]

Prenat Diagn
Yin Y, He Y, Chen C, He Y, Wang J, Qin S, Wang H, Ma K, Hu D, Xiao R, Wang G, Wang X.   +11 more
europepmc   +1 more source

Exploring the Impact of RNU4‐2 Defects on Neurodevelopmental Disorders in a Korean Population

Clinical Genetics, EarlyView.
Among 15 450 Korean individuals, noncoding RNU4‐2 variants, primarily the recurrent de novo n.64_65insT, make up 0.72% of neurodevelopmental disorders. Modeling and RNA‐seq suggest U4/U6 disruption and abnormal 5′ splice‐site selection, supporting routine use of WGS analysis for reanalyzing unresolved cases. ABSTRACT Neurodevelopmental disorders (NDDs)
Juhyeon Hong, Seungbok Lee, Soo Yeon Kim, Taekeun Kim, Woong‐Hee Shin, Sesong Jang, Ji‐Hwan Park, Dongmin Jang, Gunwoo Park, Jong Ho Cha, Jae So Cho, Anna Cho, Hunmin Kim, Hyewon Woo, Jon Soo Kim, Byung Chan Lim, Ji Eun Lee, Myungshin Kim, Chong Kun Cheon, Jungmin Choi, Jong‐Hee Chae   +20 more
wiley   +1 more source

Non‐Isolated Dandy‐Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions

Clinical Genetics, EarlyView.
Exome sequencing identified a diagnosis in 35% of 91 individuals with non‐isolated Dandy Walker malformation (DWM+). Only 24%–55% of these diagnoses could be made using a gene panel. We then demonstrated that DWM is a feature of disorders associated with ANKRD11, C2CD3, COL4A1, KMT2D, KRAS, OPHN1, SHOC2, SMARCB1, and WDR73.
Sarah Araji, Xiaonan Zhao, Jill A. Rosenfeld, Seema R. Lalani, Daryl A. Scott   +4 more
wiley   +1 more source

Chromosomal Microarray Analysis and Karyotype Analysis for Prenatal Diagnosis of Fetuses With Abnormal Ultrasound Soft Markers. [PDF]

J Clin Lab Anal
Liu L, She L, Zheng Z, Huang S, Wu H.
europepmc   +1 more source

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith, Victor Faundes, Xiaonan Zhao, Bixia Zheng, Gang Zhang, Xiao Mao, Emily Danko, Jason Laufman, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Brynjar Örn Jensson, Telma S. Sulem, Patrick Sulem, Jill A. Rosenfeld, Daryl A. Scott   +15 more
wiley   +1 more source