Results 61 to 70 of about 28,714 (240)
American Journal of Medical Genetics Part A, Volume 197, Issue 9, September 2025.ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel +2 more
wiley +1 more source
Prenatal Diagnosis of Bartter Syndrome: Lessons From a Complex Diagnostic Procedure
Clinical Case Reports, Volume 13, Issue 9, September 2025.ABSTRACT Bartter syndrome is an idiopathic condition that may manifest antenatally, characterized by a spectrum of symptoms including maternal polyhydramnios, prematurity, polyuria, hypercalciuria, nephrocalcinosis, normomagnesemia, vomiting, growth retardation, and elevated renal synthesis and urinary excretion of prostaglandins.
Athina A. Samara +9 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 13, Issue 9, September 2025.We reported a 5‐generation family with autosomal dominant Waardenburg syndrome and identified a heterozygous variant of the SOX10 gene by exome sequencing and Sanger sequencing. In addition, we performed prenatal diagnosis for family related individual.
Fei Hou +5 more
wiley +1 more source
Pregnancy, Volume 1, Issue 5, September 2025.Abstract Introduction Red cell alloimmunization in pregnancy occurs when a pregnant person develops antibodies against red blood cell antigens that are foreign to her. These antibodies can cross the placenta and cause hemolytic disease in the fetus and newborn (HDFN), which can lead to complications ranging from anemia and hyperbilirubinemia to ...
Brittany J. Arkerson +6 more
wiley +1 more source
Midtrimester genetic amniocentesis in eastern Ontario: a review from 1970 to 1985. [PDF]
, 1987 Alasdair G. W. Hunter +2 more
openalex +1 more source
Clinical Genetics, Volume 108, Issue 3, Page 266-278, September 2025.Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl +15 more
wiley +1 more source
Dermatoglyphics of two fetuses with trisomy 21 diagnosed by amniocentesis [PDF]
, 1981 M Okajima +2 more
openalex +1 more source
The fetal neurologist: Strategies to improve training, practice, and clinical care
Developmental Medicine &Child Neurology, Volume 67, Issue 9, Page 1118-1129, September 2025.Abstract Fetal neurology addresses counselling parents on the clinical significance of brain anomalies encountered in their fetus, including disruptive lesions (i.e. stroke, periventricular haemorrhagic infarction, and infection), and genetically based cortical (i.e.
Tally Lerman‐Sagie, Anthony R. Hart
wiley +1 more source
Learning From a Missed Diagnosis: Complete Agenesis of the Corpus Callosum With Benign Hydrocephalus
Clinical Case Reports, Volume 13, Issue 8, August 2025.ABSTRACT In agenesis of the corpus callosum, ventriculomegaly without evidence of cerebrospinal fluid obstruction often requires no surgical intervention. Regular follow‐up every 3–6 months, then annually, is essential to monitor for signs of raised intracranial pressure or neurological decline—prompting advanced imaging and consideration of surgical ...
J. E. Samaranayake +6 more
wiley +1 more source