Results 151 to 160 of about 31,792 (268)

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

New record of Amblyomma dissimile in Caiman yacare in Southernmost Brazil: emerging risks of animal translocation. [PDF]

Rev Bras Parasitol Vet
Beheregaray CM, Tirelli LR, Nunes LB, Baggio-Souza V, Lima JDS, Driemeier D, Pavarini SP, Soares JF.   +7 more
europepmc   +1 more source

Dioctophyme renale in wandering dogs in Pelotas, South of Brasil. [PDF]

Rev Bras Parasitol Vet, 2022
Brunner CB, Scheid HV, Venancio FDR, Lima JLF, Faccini LS, Sallis ESV, Raffi MB.   +6 more
europepmc   +1 more source

Genetic Variation in ADHD‐Related Risk Genes in an Indigenous Population of the Amazon

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Attention‐Deficit/Hyperactivity Disorder (ADHD) is a highly heritable neurodevelopmental disorder; however, its genetic architecture remains poorly explored in Indigenous populations. This study aimed to analyze and characterize genetic variation in 11 genes (ADGRL3, CDH8, DCC, DUSP6, FOXP1, FOXP2, MEF2C, PCDH7, SEMA6D, SORCS3, and ST3GAL3 ...
Hirlesson Paixão de Matos, Natasha Monte, Kaio Evandro Cardoso Aguiar, Rita de Cássia Calderaro, Aline Pasquini Santos, Juliana Carla Gomes Rodrigues, André Maurício Ribeiro‐Dos‐Santos, Sandro José De Souza, Ândrea Ribeiro‐Dos‐Santos, João Farias Guerreiro, Sidney Emanuel Batista Dos Santos, Ney Pereira Carneiro Dos Santos   +11 more
wiley   +1 more source

Factors associated with fear of childbirth in pregnant women in a University Hospital in Southern Brazil. [PDF]

Rev Esc Enferm USP
Minioli PS, Castro MA, Ramos RA, Dal Moro APM, Crispim BC, Krul LFM, Rückl SCZ.   +6 more
europepmc   +1 more source

Feasibility for evaluating motor aspects of Parkinson's disease through video consultations in a resource-limited setting in Southern Brazil. [PDF]

Arq Neuropsiquiatr, 2023
Teixeira-Dos-Santos D, Camelo DMF, Strelow MZ, Silva MTS, Führ P, Marins LW, Schumacher Schuh AF.   +6 more
europepmc   +1 more source

The Role of Glutamatergic and Dopaminergic Genes in Resistant Schizophrenia: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Psychosis is a heterogeneous disorder, with approximately one‐third of patients experiencing treatment resistance, predominantly among individuals diagnosed with Schizophrenia. Treatment‐resistant schizophrenia (TRS) may stem from a distinct biological signature, involving abnormalities in the dopaminergic and glutamatergic systems.
Maria Teresa Moreno‐Calle, Silvia Iñiguez‐Barrio, Maria Aurora Arrue, Leire Erkoreka   +3 more
wiley   +1 more source

Prevalence of Systemic Arterial Hypertension and Associated Factors in Indigenous Treated at a Specialized Outpatient Clinic in Southern Brazil. [PDF]

Arq Bras Cardiol
Araújo JM, Tuzzin L, Borges DT, Polettini J, Rabello RDS, Acrani GO, Lindemann IL.   +6 more
europepmc   +1 more source

Musculoskeletal disorders and work ability of workers at a university campus in southern Brazil. [PDF]

Rev Bras Med Trab, 2023
da Silva JF, Vieira A, da Rosa BN, Candotti CT.   +3 more
europepmc   +1 more source

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source