Results 181 to 190 of about 3,745,203 (292)

Expression Levels of miR-99a and miR-143 in Women Diagnosed with Recurrent Pregnancy Loss. [PDF]

J Clin Med
Kouvoutsaki K, Nazou E, Mavrogianni D, Liokari E, Anagnostaki I, Tzeli M, Arkoulis I, Stavros S, Rodolakis A, Drakakis P, Domali E.   +10 more
europepmc   +1 more source

Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha, Leticia Dinatto, Kirsten Meagher, Colleen Guimond, Jan M. Friedman, Peter C. Stirling, Millan S. Patel   +6 more
wiley   +1 more source

The Role of Immunological Bystander Reaction in Recurrent Pregnancy Loss. [PDF]

Cureus
Lakhno I.
europepmc   +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source

Artificial Intelligence in Recurrent Pregnancy Loss: From Risk Prediction to ART Translation. [PDF]

J Clin Med
Inoue D.
europepmc   +1 more source

Peripheral cytokines as candidate biomarkers for recurrent pregnancy loss. [PDF]

Reprod Fertil
Bagkou Dimakou D, Tamblyn J, Lissauer D, Richter A.   +3 more
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Where Imprisonment, Housing Instability and Wellbeing Intersect: Evidence From Over Two Decades of Data

Australian Journal of Social Issues, EarlyView.
ABSTRACT This study draws on life event data on housed former prisoners from the nationwide indefinite life panel, Household, Income and Labour Dynamics in Australia (HILDA) survey, spanning more than two decades. This study investigates, using panel data methods, if social connectedness mediates the association between incarceration and unstable ...
Christopher L. Ambrey, Renee Zahnow
wiley   +1 more source

Association between homocysteine level and unexplained recurrent pregnancy loss: a meta-analysis. [PDF]

Front Endocrinol (Lausanne)
Du H, Hu Y, Ye H, Di S, Yan H.
europepmc   +1 more source

Patient‐Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome

Annals of Neurology, EarlyView.
Objective Kearns–Sayre syndrome (KSS) is characterized by single large‐scale mitochondrial DNA deletions and by severe early‐onset clinical manifestations with neurological involvement. Reliable disease models, as well as validated biomarkers or effective treatments, are lacking.
Laura Valls‐Roca, Adrià Vilaseca‐Capel, Judith Cantó‐Santos, Ester Tobías, Félix Andújar‐Sánchez, Laia Farré‐Tarrats, Frederic Tort, Carles Rentero, Carlos Enrich, Virginia López, Juan R. Tejedor, Anna Esteve‐Codina, Cristina Núñez de Arenas, Pedro J. Moreno‐Lozano, José C. Milisenda, Mar O'Callaghan, Teresa García‐Silva, Montserrat Morales‐Conejo, Mario F. Fraga, Rafael Artuch, Miguel Á. Martín, José M. Cuezva, Ana Matas, Glòria Garrabou, Mariona Guitart‐Mampel   +24 more
wiley   +1 more source