Results 231 to 240 of about 379,249 (335)

A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD [PDF]

Tiago Fernando Chaves, Maristela Ocampos, Ingrid Tremel Barbato, Louise Lapagesse de Camargo Pinto, Gisele Rozone de Luca, Jorge Humberto Barbato Filho, P Bernardi, Yara Costa Netto Muniz, Angélica Francesca Maris   +8 more
openalex   +1 more source

A Statistical Mechanics Model to Decode Tissue Crosstalk During Graft Formation

Advanced Science, EarlyView.
We introduce a statistical mechanics framework to decode the genomic crosstalk governing plant grafting. By integrating evolutionary game theory with transcriptomics, we reconstruct idopNetworks (informative, dynamic, omnidirectional, and personalized networks) that map scion–rootstock interactions.
Ang Dong, Yihan Meng, Stephen Shing‐Toung Yau, Shing‐Tung Yau, Rongling Wu   +4 more
wiley   +1 more source

Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA. [PDF]

Genome Med
Zhang L, Hua R, Wu Y, Han X, Wu Y, Fei H, Zhao X, Chang C, Gao L, Chen Y, Xu H, Li N, Yang J, Wang Y, Wang J, Li S.   +15 more
europepmc   +1 more source

RanBALL: An Ensemble Machine Learning Framework for Accurate Subtype Identification of Pediatric B‐Cell Acute Lymphoblastic Leukemia

Advanced Intelligent Systems, EarlyView.
Here, we present RanBALL, an ensemble random projection‐based model for accurate and cost‐effective identification of B‐cell acute lymphoblastic leukemia subtypes is presented. By preserving patient‐to‐patient distance after dimension reduction by random projection and ensemble learning, RanBALL can facilitate the discovery of B‐ALL subtype‐specific ...
Lusheng Li, Hanyu Xiao, Xinchao Wu, Zhenya Tang, Joseph D. Khoury, Jieqiong Wang, Shibiao Wan   +6 more
wiley   +1 more source

Safety profiles of dasatinib in pediatric patients: a real-world pharmacovigilance assessment based on the FAERS database. [PDF]

Jpn J Clin Oncol
Yang Y, Ma W, Fu H, Zhou Y, Lin Y.
europepmc   +1 more source

Autosomal Dominant Erythrocytosis Caused by Non‐Renal Erythropoietin (EPO) Due to EPO c.‐136 G>A Germline Mutation

American Journal of Hematology, EarlyView.
A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova, Dusan Hrckulak, Veronika Zimolova, Felipe R. Lorenzo, Jihyun Song, Katerina Vecerkova, Olga Babosova, Linda Berkova, Vladimir Korinek, Steve Elliott, Josef T. Prchal   +10 more
wiley   +1 more source

Familial 22q11.2 Duplication/Deletion Syndrome: A Testament to the Long-Standing Clinical Utility of FISH. [PDF]

Clin Case Rep
Bryant LM, Hokanson R, Hickey SE, Zapanta B, Hunter J, Reshmi SC.   +5 more
europepmc   +1 more source

Growth Standards for Children With Smith–Magenis Syndrome (SMS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid‐1 (RAI1) gene either by a pathogenic sequence variant or deletion at chromosome 17p11.2 involving a portion or all of this gene.
Julie Hoover‐Fong, John McGready, Leah Fleming, Kerry Schulze, Folami Duncan, Alexis Leonard, Marie Christine de Blois Boucard, Danilo Moretti‐Ferreira, Andrea L. Gropman, Wendy J. Introne, Ann C. M. Smith   +10 more
wiley   +1 more source

Genome-wide analysis of self-reported risk-taking behaviour and cross-disorder genetic correlations in the UK Biobank cohort [PDF]

, 2018
Bierut, Laura, et al,, Hartz, Sarah, Horton, Amy   +3 more
core   +1 more source

A Systematic Review of Cutaneous Hypopigmentation Disorder Associated with Neurologic Involvement. [PDF]

Children (Basel)
Pavone P, Pappalardo XG, Scrofani F, Falsaperla R, Pizzo F, Polizzi A, Corsello A, Consentino MC, Parano E, Ruggieri M.   +9 more
europepmc   +1 more source