Results 51 to 60 of about 168,585,035 (181)

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Sex differences in semantic categorization [PDF]

, 2011
Sex differences in certain cognitive abilities, including aspects of semantic processing, are well established. However, there have been no reports investigating a sex difference in semantic categorization.
V. L. Pasterski, Zwierzynska, Karolina, Pasterski, Vickie, Estes, Zachary, K. Zwierzynska, Zachary Estes, Vickie Pasterski, Karolina Zwierzynska   +7 more
core   +1 more source

Medial Quadriceps Tendon‐Femoral Ligament Reconstruction Offers Favorable Clinical Outcomes and Low Complication Rates for Recurrent Patellar Instability: A Systematic Review

Arthroscopy, EarlyView.
Abstract Purpose To evaluate the surgical methods, clinical outcomes, and complication profile of patients undergoing medial quadriceps tendon‐femoral ligament reconstruction (MQTFLR), either isolated or as medial patellofemoral complex reconstruction (MPFCR), for recurrent patellar instability.
Harjind Kahlon, Benjamin Blackman, Prushoth Vivekanantha, Anika Ranadive, Marc Daniel Bouchard, Darren de SA, Jeffrey Kay   +6 more
wiley   +1 more source

Sex-specific differences in zebrafish brains

, 2022
In this systematic review, we highlight the diferences between the male and female zebrafsh brains to understand their diferentiation and their use in studying sex-specifc neurological diseases.
BEREKETOĞLU, CEYHUN
core   +1 more source

Lower Urinary Tract Symptoms as Diagnostic Clues in Parkinsonism: A Practical Framework for Neurologists

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Lower urinary tract symptoms (LUTS) are among the most prevalent nonmotor complaints across the parkinsonian spectrum, yet they remain underutilized as diagnostic and management signals in neurology practice. Although prior reviews have characterized disease‐specific patterns of urinary dysfunction, and recent guidelines address ...
Saar Anis, Omer Anis, Abhishek Lenka, Junaid H. Siddiqui   +3 more
wiley   +1 more source

Exploring the underlying gene expression profiles of differences of sex development phenotypes through transcriptome analysis

Scientific Reports
Differences of sex development (DSD) comprise a heterogeneous group of conditions involving atypical chromosomal, gonadal, or anatomical sex. While genetic causes have been extensively studied, transcriptional programs underlying human gonadal ...
Helena Fabbri-Scallet, Verónica Calonga-Solís, Gil Guerra-Júnior, Maricilda Palandi de Mello, Andréa Trevas Maciel-Guerra, Márcio Lopes Miranda, Arthur Antolini-Tavares, Hauke Busch, Axel Künstner, Ralf Werner, Olaf Hiort   +10 more
doaj   +1 more source

Urodynamic Voiding Patterns in Multiple Sclerosis

Neurourology and Urodynamics, EarlyView.
ABSTRACT Aims This study aimed to describe urodynamic voiding patterns in patients with MS (PwMS) using standardized assessments, and to compare the performance of the available nomograms and indices for obstruction and bladder contractility. Methods PwMS and lower urinary tract symptoms underwent cystometry and pressure flow studies.
Camille Chesnel, Nicolas Turmel, Maelys Teng, Emilie Blouet, Gérard Amarenco, Claire Hentzen   +5 more
wiley   +1 more source

Sex-specific Mendelian randomisation to assess the causality of sex differences in the effects of risk factors and treatment: spotlight on hypertension [PDF]

, 2023
Hypertension is a key modifiable risk factor for cardiovascular disease. Several observational studies have found a stronger association of blood pressure and cardiovascular disease risk in women compared to men.
den Ruijter, Hester M, Peters, Sanne A E, de Ruiter, Sophie C, Schmidt, A Floriaan, Grobbee, Diederick E   +4 more
core  

Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort

Frontiers in Genetics, 2022
In a majority of individuals with disorders/differences of sex development (DSD) a genetic etiology is often elusive. However, new genes causing DSD are routinely reported and using the unbiased genomic approaches, such as whole exome sequencing (WES ...
Housna Zidoune, Housna Zidoune, Housna Zidoune, Asmahane Ladjouze, Djalila Chellat-Rezgoune, Djalila Chellat-Rezgoune, Asma Boukri, Scheher Aman Dib, Nassim Nouri, Meryem Tebibel, Karima Sifi, Noureddine Abadi, Dalila Satta, Dalila Satta, Yasmina Benelmadani, Joelle Bignon-Topalovic, Maeva El-Zaiat-Munsch, Anu Bashamboo, Ken McElreavey   +18 more
doaj   +1 more source

Pericapsular nerve group block with phenol for non‐operative hip fracture management in patients living with frailty: a prospective multicentre cohort study

Anaesthesia, EarlyView.
Summary Introduction The incidence of hip fractures is rising with the ageing population. For patients living with severe frailty and limited life expectancy, non‐operative management is increasingly considered after shared decision‐making. Given the limited availability of long‐term analgesic options, alternative techniques are needed.
Rachel J. H. Smits, Marte I. Lommerse, Hugo H. Wijnen, Lennart G. Wasmoeth, Glenn van de Vossenberg, Gezina T. M. L. Oei, Henk J. Schuijt, Kris C. P. Vissers, Hanna C. Willems, Jan Willem Kallewaard, Selina E. I. van der Wal, the Dutch‐PENG registry collaborators, Gert R. Roukema, Dawi Van der Stap, J.S.H.A. (Seppe) Koopman, Bart P.A. Spaetgens, Renée Brüggemann, Nicole Lefel, Manon Vugts, Nikki M.F. Noorda, Vincent Van Dongen, Hidde Krot, Nicole Grupa, Daisy Hoofwijk, Léon Timmerman   +24 more
wiley   +1 more source