Results 161 to 170 of about 64,247 (285)

Giant Choledochal Cyst in a Child With Spinocerebellar Ataxia: A Potential Molecular Link Through Aberrant Cytosolic Calcium Signaling

American Journal of Medical Genetics Part A, EarlyView.
Hiromi Sumitomo, Tomoyuki Akiyama, Tadashi Kaname, Toshiki Takenouchi   +3 more
wiley   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Immunotherapy and IVF Outcomes in Unexplained Recurrent Pregnancy Loss: A Systematic Review with Implications for Personalized Reproductive Medicine. [PDF]

J Pers Med
Incognito GG, Ettore C, D'Asta M, Gulino FA, Foti R, Tozzi R, De Tommasi O, Chieppa P, Di Michele S, Ettore G.   +9 more
europepmc   +1 more source

Does serum anti-nuclear antibody predict outcomes of pregnancy among women with a history of recurrent pregnancy loss, without coexisting anti-phospholipid antibody syndrome ? A systematic review and meta-analysis [PDF]

, 2019
Trenton L. Place, Karen M. Summers, Matt Regan, Patrick Ten Eyck, Yunshu Zhou, Brittany Bettendorf, Abey Eapen   +6 more
openalex   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Correction: Association of thyroid autoimmunity and pregnancy outcomes in unexplained recurrent pregnancy loss women: a prospective cohort study. [PDF]

Front Endocrinol (Lausanne)
Wang R, Liu L, Zhang W, Zhang J, Wang K, Wang F.   +5 more
europepmc   +1 more source

MNSFβ Regulates TNFα Production by Interacting with RC3H1 in Human Macrophages, and Dysfunction of MNSFβ in Decidual Macrophages Is Associated With Recurrent Pregnancy Loss

, 2021
Xing‐Xing Zhen, Long Yang, Yan Gu, Qian Yang, Wenwen Gu, Yaping He, Yanling Wang, Jian Wang   +7 more
openalex   +1 more source

National Disability Insurance Scheme and Quality of Life Among Carers of Children With Autism Spectrum Disorder in Australia: A Thematic Analysis

Australian Journal of Social Issues, EarlyView.
ABSTRACT Diagnoses of autism spectrum disorder in Australia have increased considerably in recent years. The current study investigated how the National Disability Insurance Scheme (NDIS) impacts quality of life (QoL) among carers of children with autism spectrum disorder.
Jesse Gerhard, Sharon L. Grant
wiley   +1 more source

Effectiveness of preimplantation genetic testing for aneuploidy in improving clinical and neonatal outcomes for patients with recurrent pregnancy loss. [PDF]

Front Endocrinol (Lausanne)
Li J, Li Z, Lin X, Ou Z, Huo J, Fang X, Du J, Lin X, Wen X.   +8 more
europepmc   +1 more source