Results 151 to 160 of about 86,060 (293)

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +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

A case with proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H) associated with urogenital anomalies

The Turkish Journal of Pediatrics, 2006
Malformations of the lower limbs are rare and heterogeneous anomalies. Some congenital anomalies involving face, gastrointestinal system, skeletal system, urogenital system, heart, lung and diaphragma associated with lower limb malformations have ...
Hacer Ergin, C Nur Semerci, Mevlüt Bican, Füsun Düzcan, A Baki Yagci, Kadri Murat Erdogan, A Cevik Tufan   +6 more
doaj  

Developmental stuttering with common and complex phenotypes

Developmental Medicine &Child Neurology, EarlyView.
Aim To describe the phenotypic spectrum associated with stuttering. Method Individuals with current or resolved developmental stuttering self‐referred. Surveys assessed stuttering characteristics (onset, negative impact, family history) and health (early development, other conditions). Speech and non‐verbal intelligence were assessed using conversation
Sarah E. Horton, Daisy A. Shepherd, Stephanie Siemers, Miya St John, Juliette Catherall, Ingrid E. Scheffer, Angela T. Morgan   +6 more
wiley   +1 more source

Development of the urogenital system is regulated via the 3'UTR of GDNF. [PDF]

Sci Rep, 2019
Li H, Jakobson M, Ola R, Gui Y, Kumar A, Sipilä P, Sariola H, Kuure S, Andressoo JO.   +8 more
europepmc   +1 more source

Downstream Treatment Burden and Health‐Care Utilization Following Initiation of GLP‐1 Receptor Agonists or SGLT2 Inhibitors in Type 2 Diabetes

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims Glucagon‐like peptide‐1 (GLP‐1) receptor agonists and sodium–glucose cotransporter 2 (SGLT2) inhibitors are widely used for the treatment of type 2 diabetes, yet their downstream consequences in routine clinical practice remain incompletely characterized.
Yazan Alhamdan, Jason C. Hsu, Christine Y. Lu   +2 more
wiley   +1 more source

Discontinuation of SGLT2i After a Urogenital Infection: A Population‐Based Matched Cohort Study of Patients With Type 2 Diabetes

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims Sodium‐glucose cotransporter 2 inhibitors (SGLT2is) improve glycaemic control and cardiorenal outcomes in Type 2 diabetes, particularly in patients at elevated cardiovascular and kidney risk, yet discontinuation following infections appears common.
Christine Ljungberg, Mette Nørgaard, Christina Vandenbroucke‐Grauls, Michael Dalager‐Pedersen, Henrik Toft Sørensen, Reimar Wernich Thomsen   +5 more
wiley   +1 more source

Higher Body Mass Index Is a Causal Risk Factor for Skin Infections: A Mendelian Randomisation Study Using UK Biobank and FinnGen

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims Infections remain a leading cause of mortality and morbidity globally. We aimed to evaluate the potential causal role of higher BMI on common bacterial, viral and fungal infections using Mendelian randomisation (MR). Material and Methods In UK Biobank (N = 502 131, N = 230 542 with linked GP records), we tested observational associations ...
Rhian Hopkins, Ethan de Villiers, Michael N. Weedon, Beverley M. Shields, John M. Dennis, Andrew P. McGovern, Harry D. Green   +6 more
wiley   +1 more source

Epidemiological and Clinical Characteristics of Urogenital System Cystic Echinococcosis: A Systematic Review. [PDF]

Balkan Med J
Elmaslar Mert HT, Solak M, Sarı Serin P, Şakru N.   +3 more
europepmc   +1 more source

L1CAM in the Early Enteric and Urogenital System. [PDF]

J Histochem Cytochem, 2017
Pechriggl EJ, Concin N, Blumer MJ, Bitsche M, Zwierzina M, Dudas J, Koziel K, Altevogt P, Zeimet AG, Fritsch H.   +9 more
europepmc   +1 more source