Results 51 to 60 of about 3,858 (212)
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
I pigmenti inorganici: definizioni, caratteristiche e classificazioni
, 2003 In questo capitolo sono valutate le principali caratteristiche dei pigmenti inorganici utilizzati per la colorazione dei materiali ...
BONDIOLI, Federica
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Incontinentia pigmenti presenting as hypodontia in a 3-year-old girl: a case report
Journal of Medical Case Reports, 2009 Introduction Incontinentia pigmenti or Bloch-Sulzberger syndrome is a rare X-linked dominant disease that mainly affects the skin, eyes, hair, central nervous system and teeth. The disease is predominant among women.
Kitakawa Dárcio +4 more
doaj +1 more source
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
, 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
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Sporadic case of incontinentia pigmenti in identical twins
Indian Journal of Paediatric Dermatology, 2017 Incontinentia pigmenti (IP) is a rare genodermatoses with multisystem involvement. Monochorionic diamniotic twins are presented with characteristic skin manifestation and ocular and neurological involvement.
Shekhar Neema +2 more
doaj +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
Pulmonary hypertension and vasculopathy in incontinentia pigmenti: a case report
, 2017 Abduljabbar Alshenqiti,1 Marwan Nashabat,1 Hissah AlGhoraibi,1 Omar Tamimi,2 Majid Alfadhel1 1Division of Genetics, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz Uiversity for Health Sciences ...
Alshenqiti A +4 more
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Refractory myasthenia gravis treated with autologous hematopoietic stem cell transplantation
Annals of Clinical and Translational Neurology, Volume 12, Issue 1, Page 56-68, January 2025.Abstract Objectives Patients with refractory myasthenia gravis (MG) have few treatment options. Autologous hematopoietic stem cell transplantation (HSCT) has been used to treat immune diseases; however, its use in the treatment of MG is not broadly considered. Our objective is to report on the efficacy and safety of HSCT in refractory MG.
Benjamin Beland +12 more
wiley +1 more source