Results 111 to 120 of about 64,359 (215)

IFN-γ+ NK cells as a potential predictor of pregnancy loss in unexplained recurrent pregnancy loss. [PDF]

Int J Med Sci
Yan N, Lee P, Jie H, Long L, Fu Y, Zhou C, Yuan Y.   +6 more
europepmc   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Analysis of copy number variations and candidate genes in recurrent pregnancy loss. [PDF]

PeerJ
Wang L, Yang L, Li S, Liu X, Tang P.
europepmc   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Progesterone in recurrent pregnancy loss: from controversial efficacy to mechanism-based patient stratification. [PDF]

Front Pharmacol
Wang CF, Zhang YF, Li JK, Jiao XF, Wei Q.   +4 more
europepmc   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

dNK3 cells in normal pregnancy and recurrent pregnancy loss: from molecular identity to functional imbalance. [PDF]

Front Immunol
Liu L, Zhang Z, Huang Q, Liu B, Wu H.
europepmc   +1 more source

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

Disrupted immune senescence in early pregnancy is associated with recurrent pregnancy loss. [PDF]

Front Immunol
Parvanov D, Ganeva R, Ruseva M, Handzhiyska M, Jelezarsky L, Safir J, Metodiev D, Stamenov G, Hadjidekova S.   +8 more
europepmc   +1 more source

Recurrent Pregnancy Loss Despite Therapeutic Anticoagulation in a Patient With May-Thurner Syndrome: A Case Report. [PDF]

Cureus
Lin F, Khan A, Mohammed H, Wise TF, Rawiji H.   +4 more
europepmc   +1 more source