Results 171 to 180 of about 76,266 (294)

Disruption of protein-protein interaction hotspots in the C-terminal domain of MLH1 confers mismatch repair deficiency. [PDF]

NAR Cancer
Fishwick KM, Gomez Vieito D, Greco G, Collotta G, Gatti M, Kulik AA, Guérois R, Corbeski I, Phadte AS, Senoussi I, Cejka P, Pluciennik A, Porro A, Sartori AA.   +13 more
europepmc   +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

Malformation Pattern and Molecular Findings in the FGFR1-Related Hartsfield Syndrome Phenotype. [PDF]

Med Sci (Basel)
Gaudioso F, Pascolini G.
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

Efficient cellular transformation via protein delivery through the protrusion-derived extracellular vesicles. [PDF]

Nat Commun
Fujioka T, Nishimura T, Kawana H, Hirosawa KM, Yamakawa R, Sapili H, Oono-Yakura K, Nakagawa R, Inoue T, Nureki O, Suzuki KGN, Suetsugu S.   +11 more
europepmc   +1 more source

Comparison of Piezoelectric and High‐Speed Drills for Frontal Beak Osteotomy in Endoscopic Sinus Surgery—Exploratory Study

Clinical Otolaryngology, EarlyView.
ABSTRACT Introduction Frontal beak reduction is a critical and challenging step in endoscopic sinus surgery (ESS) for chronic rhinosinusitis (CRS). Traditional high‐speed drills can risk thermal injury and soft tissue trauma, whereas piezoelectric surgery uses ultrasonic vibrations for selective bone cutting and may improve surgical precision.
Łukasz Skrzypiec, Kornel Szczygielski, Agnieszka Brociek‐Piłczyńska, Dariusz Jurkiewicz, Marta Aleksandra Kwiatkowska   +4 more
wiley   +1 more source

Genetic background of infantile hypophosphatemia: a narrative review. [PDF]

Transl Pediatr
Zeng X, Hu L.
europepmc   +1 more source

Experiência de famílias e terapeutas com um programa de telessaúde para crianças e adolescentes com paralisia cerebral durante a pandemia de COVID‐19

Developmental Medicine &Child Neurology, EarlyView.
Experiências de pais de crianças com paralisia cerebral e terapeutas no programa individualizado. Resumo Objetivo Compreender as percepções das famílias e terapeutas sobre a sua participação em um programa domiciliar individualizado via telessaúde implementado para crianças e adolescentes com paralisia cerebral (PC) durante a pandemia da COVID‐19 no ...
Rachel Oliveira, Marisa Mancini, Priscilla Figueiredo, Katia Bueno, Andrew M. Gordon, Marina Brandão   +5 more
wiley   +1 more source

Recovery After Transcervical Fibroid Ablation Versus Minimally Invasive Myomectomy for Symptomatic Uterine Fibroids: A Randomised Controlled Trial. [PDF]

BJOG
Neis F, Kraemer B, Bauer A, Dijkstra T, Matovina S, Rohner A, Brucker SY.   +6 more
europepmc   +1 more source

Teplizumab in Stage 2 Type 1 Diabetes: Clinical Practice Experience on Feasibility in 3 Adult Patients

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aim To describe the first Italian experience with teplizumab administered under a compassionate use programme for adults with Stage 2 type 1 diabetes (T1D), and to evaluate its feasibility, safety and early metabolic outcomes in a real‐life clinical setting outside formal clinical trials.
V. Guarnotta, F. Pantò, E. Vigneri, G. Piombo, M. I. Mineo, L. Tomasello, G. Arnaldi   +6 more
wiley   +1 more source