Results 91 to 100 of about 1,877 (178)
BMC Medical Genetics, 2017 Background Joubert syndrome and related disorders (JSRD) is a clinically and genetically heterogeneous condition with autosomal recessive or X-linked inheritance, which share a distinctive neuroradiological hallmark, the so-called molar tooth sign.
Shingo Koyama +5 more
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, 2022 Nephronophthisis (NPH) is an autosomal recessive renal disorder which is characterized by massive fibrosis and progressive loss of functional nephrons.
Serafin, Alice
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Proceedings, 2018 Ewing sarcoma is a bone and soft tissue tumor either neuroectodermal or mesenchymal originated and affecting children and adolescents. In the present study, we aimed to find out prognostic and predictive biomarkers for Ewing sarcoma.
Burçin Baran +7 more
doaj +1 more source
Identifizierung und Charakterisierung einer murinen Nphp1 cDNA
, 2002 Es wurde im Rahmen dieser Dissertation eine zur humanen komplementären Nphp1 cDNA in einer cDNA Genbank identifiziert und charakterisiert.
Schätzle, Silvia
core
, 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
Signe de àla dent molaire à: aspect caractéristique en IRM du syndrome de Joubert
The Pan African Medical Journal, 2015 Le syndrome de Joubert est une affection génétique rare, de transmission autosomique récessive, caractérisé par une malformation congénitale du tronc cérébral et une agénésie ou une hypoplasie du vermis cérébelleux entraînant des troubles respiratoires ...
Manel Jellouli, Tahar Gargah
doaj +1 more source
Genomics, 1998 A gene for the autosomal recessive kidney disorder juvenile nephronophthisis (NPH) is located on chromosome 2q between markers D2S1893 and D2S1888. Recently, the presence of large homozygous deletions was described in the majority of NPH patients. We constructed an integrated YAC/PAC contig of 54 markers and 30 PAC clones that encompasses this deletion
Nothwang, Hans Gerd +9 more
openaire +3 more sources
, 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
Additional file 1 of A case report of NPHP1 deletion in Chinese twins with nephronophthisis
, 2020 Additional file 1.
Chen, Feng +6 more
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Copy number analysis of genomic sequences flanking NPHP1 in primates.
, 2016 A. UCSC Genome Browser tracks showing the diagram of 358 kb LCRs and 45 kb LCRs on the proximal side of NPHP1 (Chr2: 110430525–110962639, hg19). Blue and red arrows, one copy of the 358 kb LCRs and 45 kb LCRs for illustration purpose (the copy number of ...
David C. Schwartz (256989) +12 more
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