Results 81 to 90 of about 41,808 (221)
Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens +3 more
wiley +1 more source
Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management [PDF]
, 2007 Craniometaphyseal and craniodiaphyseal dysplasia are rare genetic disorders of bone due to modelling errors of long bones and skull bones. These syndromes present with multiple ENT symptomatology from an early age.
Bailey, CM +3 more
core +1 more source
Systemic lupus erythematosus complicated with Fanconi syndrome: a case report and literature review
Frontiers in PediatricsBackgroundSystemic lupus erythematosus is an autoimmune disease with diverse clinical manifestations. The symptoms of SLE in children are more atypical than adults. Childhood SLE complicated with Fanconi syndrome is extremely rare and even more difficult
Lili Lou +4 more
doaj +1 more source
British Journal of Haematology, Volume 208, Issue 4, Page 1407-1418, April 2026.Summary Inherited bone marrow failure syndromes (IBMFSs) are genetically heterogeneous with an expanding spectrum of causative genes. Recent molecular advances are thought to have contributed to genetic identification, yet the true gain in diagnostic yield remains unclear.
Ye Jee Shim +21 more
wiley +1 more source
A consensus statement on the renal monitoring of Australian patients receiving tenofovir based antiviral therapy for HIV/HBV infection [PDF]
, 2014 A number of antiviral agents used against Human Immunodeficiency Virus (HIV) infection and hepatitis B virus (HBV) mono or co-infection have been associated with real nephrotoxicity (including tenofovir disoproxil fumarate (TDF), atazanavir, indinavir ...
Abbas, R. +9 more
core +3 more sources
Fanconi anemia manifesting as a squamous cell carcinoma of the hard palate: a case report [PDF]
, 2006 Fanconi Anemia is a rare autosomal recessive disorder characterized by various congenital malformations, progressive bone marrow failure at a very young age and of solid tumors development.
Giulio Gasparini +22 more
core +3 more sources
Type I glycogenosis with renal tubular dysfunction (presentation of two cases)
The Turkish Journal of Pediatrics, 1993 Two patients with hepatic glycogenosis associated with Fanconi syndrome are presented. Both patients were treated with a neutral phosphorus solution, an oral alkaline solution, cholecalciferol and uncooked cornstarch.
A Yüce +5 more
doaj
Drug-induced metabolic acidosis [PDF]
, 2017 Summary: Drug causes of metabolic acidosis are numerous and their mechanisms are diverse. Broadly, they can cause metabolic acidosis with either a normal anion gap (e.g. drug-induced renal tubular acidosis) or an elevated anion gap (e.g.
Boton +33 more
core +1 more source
Haematologica, 2009 Fanconi anemia is a severe bone marrow failure syndrome resulting from inactivating mutations of Fanconi anemia pathway genes. Gene and cell therapy trials using hematopoietic stem cells and progenitors have been hampered by poor mobilization of HSC to ...
Michael D. Milsom +3 more
doaj +1 more source
p53 mediates failure of human definitive hematopoiesis in dyskeratosis congenita [PDF]
, 2017 Summary: Dyskeratosis congenita (DC) is a bone marrow failure syndrome associated with telomere dysfunction. The progression and molecular determinants of hematopoietic failure in DC remain poorly understood.
Batista, Luis Francisco Zirnberger +5 more
core +3 more sources