Results 211 to 220 of about 672,718 (300)

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?

Clinical Genetics, EarlyView.
A nuclear family affected by distal arthrogryposis with novel biallelic MYH3 variants, which at the heterozygous state yield a subclinical phenotype, highlighting the complexity of MYH3‐related disorders and their inheritance modes. ABSTRACT Distal arthrogryposis constitutes a highly heterogeneous group of disorders with a critical need for clear ...
Omar Zgheib, Thomas Rio‐Frio, Michel Guipponi, Thierry Nouspikel, Siv Fokstuen, Marc Abramowicz, Philippe Khau Van Kien   +6 more
wiley   +1 more source

Whole exome sequencing in pediatric hyperammonemia: significant diagnostic yield and identification of three novel variants. [PDF]

BMC Med Genomics
Hajati R, Hashemian F, Salehpour S, Sayad A.   +3 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

Genetic architecture of cowpea domestication: QTL mapping and comparison shed new light on the dual domestication events. [PDF]

G3 (Bethesda)
Dramé D, Bodian A, Nguepjop JR, Tossim HA, Sambakhe D, Seye M, Djiboune YR, Badji R, Rami JF, Diouf D, Fonceka D.   +10 more
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

Design of a Nano-Refractive Index Sensor Based on a MIM Waveguide Coupled with a Cat-Faced Resonator for Temperature Detection and Biosensing Applications. [PDF]

Sensors (Basel)
Zheng J, Yan S, Chen C, Ding K, Cui Y, Wu T.   +5 more
europepmc   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, EarlyView.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

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

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

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

Med Sci (Basel)
Gaudioso F, Pascolini G.
europepmc   +1 more source