Results 71 to 80 of about 1,877 (178)
Pediatric Transplantation, Volume 30, Issue 1, January 2026.AB0‐incompatible kidney transplantation in children can be performed with excellent results. Midterm outcome of AB0 incompatible KTx was not inferior to that of AB0 compatible KTx. Graft survival and graft function were comparably good in both groups. There was no increase in infectious complications or malignancies with AB0i KTx.
Christina Taylan +4 more
wiley +1 more source
MyGene2 automated match report: NPHP1
, 2017 MyGene2.org is free, public, searchable & browsable website. Families with rare genetic conditions, clinicians, and researchers families who are interested in sharing health and genetic information can create MyGene2 profiles and use these to connect with other families, clinicians, and researchers who may have or be studying the same condition. If
openaire +1 more source
, 2023 Background: Nephronophthisis (NPH) is the most common genetic cause of end-stage renal disease (ESRD) in childhood, and NPHP1 is the major pathogenic gene.
Xiaoya Wei (631327) +12 more
core +1 more source
, 2023 Background: Nephronophthisis (NPH) is the most common genetic cause of end-stage renal disease (ESRD) in childhood, and NPHP1 is the major pathogenic gene.
Xiaoya Wei (631327) +12 more
core +1 more source
Urinary renal epithelial cells can be used for NPHP1 phenotyping and a personalized therapeutic strategy [PDF]
\ua9 2025. Published by The Company of Biologists. Nephronophthisis (NPHP) is a recessive tubulointerstitial nephropathy and a leading genetic cause of kidney failure in children and young adults. The most common genetic cause is a homozygous deletion of
Mabillard H +10 more
core +3 more sources
Genetic testing for Senior-Loken syndrome
The EuroBiotech Journal, 2017 We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Senior- Loken syndrome (SLSN).
Abeshi Andi +5 more
doaj +1 more source
Whole‐Genome Data to Investigate Recent and Historical Dog Introgression Patterns in Italian Wolves
Ecology and Evolution, Volume 15, Issue 12, December 2025.We analyzed whole‐genome data from Italian wolves and dogs to assess the extent, timing, and functional relevance of dog introgression in the Italian wolf. Five wolves showed recent admixture within the last 3–7 generations, while historical introgressions under selection dated to the Bronze and Middle Ages involved genes linked to neuronal plasticity,
D. Battilani +8 more
wiley +1 more source
, 2023 Background: Nephronophthisis (NPH) is the most common genetic cause of end-stage renal disease (ESRD) in childhood, and NPHP1 is the major pathogenic gene.
Xiaoya Wei (631327) +12 more
core +1 more source
Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling. [PDF]
PLoS Genetics, 2015 Mutations in genes encoding cilia proteins cause human ciliopathies, diverse disorders affecting many tissues. Individual genes can be linked to ciliopathies with dramatically different phenotypes, suggesting that genetic modifiers may participate in ...
Laura E Yee +8 more
doaj +1 more source
Rare Case of Laurence–Moon–Bardet–Biedl Syndrome With Pulmonary Hypertension: A Case Report
Clinical Case Reports, Volume 13, Issue 8, August 2025.ABSTRACT Laurence‐Moon‐Bardet‐Biedl Syndrome is a complicated polygenic disorder that can have lethal manifestations such as pulmonary hypertension. Early recognition, comprehensive medical treatment, and psychological intervention for the family are crucial, but survival is usually short in those with a poor functional status and increasingly impaired
Areeba Mariam Mehmood +7 more
wiley +1 more source