Results 241 to 250 of about 645,542 (342)

Antenatal Presentation of MRPS22‐Related Mitochondrial Disease Confirmed With Rapid Proteomics

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT MRPS22‐related mitochondrial disease (MIM#611719) is a rare autosomal recessive disorder caused by defects in the mitochondrial ribosomal protein S22, a component of the small mitoribosomal subunit essential for mitochondrial translation. Of the few reported cases, most present antenatally with a severe phenotype, conveying a poor prognosis ...
Liana N. Semcesen, Megan Ball, Daniella H. Hock, Juliet Kaye, Aimee Woods, Lucas De Jong, MitoMDT Diagnostic Network for Genomics and Omics, David R. Thorburn, Aleksandra Filipovska, Michael T. Ryan, David A. Stroud, Diana Stojanovski, David Coman, Sean Murray, Ryan L. Davis, John Christodoulou, Suzanne C. E. H. Sallevelt, Roula Ghaoui, Cas Simons, Stefan J. Siira, Shanti Balasubramaniam, Alison G. Compton, Daniel G. MacArthur, Nicole J. Lake, Drago Bratkovic, Joy Lee, Maina Kava, Amanda Samarasinghe, Yoni Elbaum, Catherine Atthow, Pauline McGrath, Tegan Stait, Rocio Rius, Liana N. Semcesen, Megan Ball, Daniella Hock, Luke E. Formosa, Ellenore M. Martin, Madeleine Harris, John Christodoulou, David R. Thorburn, Alison G. Compton, David A. Stroud, Jan Liebelt   +43 more
wiley   +1 more source

The Importance of Molecular Testing in the Diagnosis of Genetic Syndromes with Chronic Kidney Disease: Genotype-Phenotype Correlations. [PDF]

Int J Mol Sci
Butnariu LI, Russu R, Babici RG, Băgiag A, Trandafir LM, Țarcă E, Popovici P, Gimiga N, Starcea IM.   +8 more
europepmc   +1 more source

Identification of a Novel De Novo Heterozygous SEC61A1 Variant in a Patient With Severe Congenital Neutropenia

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
Severe congenital neutropenia can be caused by rare SEC61A1 variants. We report a child with SCN showing granulocytic maturation arrest and abnormal immunophenotype, carrying a novel de novo SEC61A1 p.Trp379Arg variant, expanding the phenotypic and genetic spectrum of SEC61A1‐associated SCN.
Zixuan Wang, Hui Jing, Yuhan Chen, Ling Zhong, Jiyun Yang   +4 more
wiley   +1 more source

Rare Combination of PKD and precocious puberty in a HNF1B mutated little girl. [PDF]

Urol Case Rep
Nigro E, D'Arcangelo R, Pisani A, Malgieri G, Daniele A.   +4 more
europepmc   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Unilateral Multicystic Dysplastic Kidney in a Fetus Associated With Parental Genetic and Environmental Risk Factors: A Case Report. [PDF]

Cureus
Khan Z, Jafri M, Lambroussis CG.
europepmc   +1 more source

Successful Management of Septic Splenitis in an Abyssinian Cat

Veterinary Medicine and Science, Volume 12, Issue 3, May 2026.
A 3.5‐year‐old female neutered Abyssinian with pyrexia of unknown origin and splenomegaly was diagnosed with septic splenitis. Complete resolution of clinical signs followed splenectomy and antibiotic treatment with pradofloxacin. Septic splenitis, although uncommon, should be considered as a differential diagnosis in patients with splenomegaly and ...
Martina Vecín Sancho, Perrine Henry, Mica Taylor, Catherine Davidson, María Lázaro Muñoz, Efa Llewellyn, Maša Vilfan, Paola Cazzini, Linda Morrison, Kelly Blacklock, Danièlle Gunn‐Moore   +10 more
wiley   +1 more source

Genetics of CAKUT. [PDF]

Med Genet
Hilger AC, Westland R, Hoefele J.
europepmc   +1 more source

Presumptive Congenital Unilateral Renal Agenesis With Contralateral Dysplasia/Hypoplasia in a Golden Retriever

Veterinary Medicine and Science, Volume 12, Issue 3, May 2026.
A 4‐year‐old Golden Retriever presented with polyuria, polydipsia and severe azotaemia, with multimodal imaging revealing complete presumptive left renal agenesis with a small dysplastic remnant and severe presumptive right renal dysplasia/hypoplasia with loss of normal corticomedullary architecture. To the authors’ knowledge, this represents the first
Hyewon Moon
wiley   +1 more source