Results 61 to 70 of about 2,525 (203)
Prenatal Diagnosis, Volume 45, Issue 3, Page 326-347, March 2025.ABSTRACT Objective The study aimed to evaluate the frequency of pathogenic copy number variants (CNVs) classified as incidental findings (IFs) in prenatal diagnosis and to develop consensus recommendations for standardizing their reporting across six centers within the Catalan public health system (XIGENICS network).
Irene Mademont‐Soler +12 more
wiley +1 more source
Incontinentia pigmenti – clinical cases in 3 generations [PDF]
, 2016 Generalităţi. Incontinentia pigmenti sau sindromul Bloch-Sulzberger este o afecţiune genetică, cu transmitere dominant X-lincată, caracterizată prin leziuni cutanate cu evoluţie stadială, asociate cu anomalii ale sistemului nervos central, oft almologice,
Tincu, Diana +2 more
core
Journal of Paediatrics and Child Health, Volume 61, Issue 3, Page 472-481, March 2025.ABSTRACT Aim Angiostrongylus cantonensis, the leading cause of eosinophilic meningoencephalitis, is well established in eastern Australia. Prolonged wet weather in Queensland during 2021–2022 coincided with anecdotal reports of increased neuroangiostrongyliasis cases, prompting an evaluation of paediatric cases from 2013 to 2022.
Nadia Hasan +5 more
wiley +1 more source
Incontinentia pigmenti in a father and daughter [PDF]
, 2016 Incontinentia pigmenti (IP) is a rare multi-system X-linked dominant genetic disorder caused by mutations in IKBKG, encoding inhibitor of nuclear factor kappa-B kinase subunit gamma (IKK- γ).
McGrath, John Alexander +5 more
core +1 more source
Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement
JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley +1 more source
ACR Open Rheumatology, Volume 7, Issue 2, February 2025.The aim of this study was to explore the impact of rare and ultra‐rare genetic variants on the understanding and treatment of autoimmune and autoinflammatory diseases with a focus on systemic lupus erythematosus (SLE) and Behçet syndrome. This review summarizes current research on the monogenic causes of SLE and Behçet syndrome, highlighting the ...
Alexandre Belot +5 more
wiley +1 more source
, 2009 Heart-type fatty acid binding-protein (H-FABP) has been reported to be a potential novel biochemical marker for the early diagnosis of acute myocardial infarction (AMI). The presence of H-FABP in the liver has not been reported. The aim of this study was
William, Brent +2 more
core
Electron Microscopy of Incontinentia Pigmenti
, 1973 Electron microscopic examination revealed common features, although to varying extent, in all three stages of incontinentia pigmenti. All three stages showed (1) dyskeratosis; (2) phagocytosis of dyskeratotic cells and of melanosomes by macrophages; and (
Lever, Walter F. +1 more
core +1 more source
Incontinentia Pigmenti Misdiagnosed as Neonatal Herpes Simplex Virus Infection
Case Reports in Pediatrics, 2018 Incontinentia pigmenti (IP) is an X-linked dominant neurocutaneous syndrome with ophthalmologic, neurologic, cutaneous, and dental manifestations and in most cases antenatally lethal in boys.
Fahimeh Abdollahimajd +5 more
doaj +1 more source
Case Reports in Dentistry, Volume 2025, Issue 1, 2025.Introduction: Gemination and fusion are rare developmental anomalies that can present significant diagnostic challenges. Due to the complexity of distinguishing between these conditions, the term “double tooth” is commonly employed in clinical practice.
Matteo Pellegrini +6 more
wiley +1 more source