Results 91 to 100 of about 930 (131)

Síndrome de Jeune tipo II clínico y enfermedad renal crónica terminal: .Reporte de caso

Las ciliopatías abarcan numerosas entidades clínicas originadas por anomalías de estructura o función de cilios primarios. Entre ellas se describe el Síndrome de Jeune (SJ) displasia esquelética poco frecuente con sus variantes: tipo I de corta sobrevida
Barros, María Isabel, Aralde, Adriana, Analía Fernández, Silvia, Correa, Clemencia, Montanari, Daniela   +4 more
core  

A Role for Genetic Modifiers in Tubulointerstitial Kidney Diseases. [PDF]

Genes (Basel), 2023
Leggatt GP, Seaby EG, Veighey K, Gast C, Gilbert RD, Ennis S.   +5 more
europepmc   +1 more source

Global profiling of protein lactylation in pancreatic ductal adenocarcinoma. [PDF]

Sci Rep
Toledo D, Oluwole SA, Owiredu S, Carr G, Agatemor C.   +4 more
europepmc   +1 more source

Rod-cone dystrophy with myriad systemic manifestations. [PDF]

Oman J Ophthalmol
Patil G, Pandarasamy P, Reddy NVSK, Ganne P.   +3 more
europepmc   +1 more source

Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype. [PDF]

Mol Syndromol
Nair P, Bizzari S, Mehawej C, Chouery E, Audi P, Corbani S, Korban R, Mahfoud D, Superti-Furga A, El-Hayek S, Megarbane A.   +10 more
europepmc   +1 more source

Thin Glomerular Basement Membrane Phenotypes With No Identified Pathogenic <i>COL4A3/A4/A5</i> Variant. [PDF]

Kidney Int Rep
Riella CV, Colombo DA, Rennke HG, Weins A, Rosen S, Lin MH, Suhas T, Stillman IE, Heher YK, Bianchi G, Zivna M, Bleyer AJ, Kmoch S, Lu W, Miner JH, Czarnecki PG.   +15 more
europepmc   +1 more source

A case of giant renal angiomyolipoma and diabetic nephropathy with abnormalities in the genes TSC2 and HNF1B. [PDF]

CEN Case Rep
Sugimoto H, Sawa N, Oba Y, Mizuno H, Sekine A, Yamanouchi M, Tanaka K, Hasegawa E, Suwabe T, Wada T, Yokoyama T, Miki K, Nakamura Y, Ishii Y, Kono K, Ohashi K, Takazawa Y, Fujimaru T, Mori T, Sohara E, Ubara Y.   +20 more
europepmc   +1 more source

Inhibition of Hedgehog signaling does not mitigate polycystic kidney disease severity in a Pkd1 mutant mouse model. [PDF]

J Cell Sci
Gombart SK, Houghtaling S, Ho TH, Beier DR.   +3 more
europepmc   +1 more source

Whole exome sequencing, clinical exome or targeted gene panels: what to choose for suspected lethal skeletal dysplasia (short rib thoracic dysplasia type IV). [PDF]

BMJ Case Rep, 2022
Das S, Sharma C, Gothwal M, Tada N.
europepmc   +1 more source

Report of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome) [PDF]

Turk J Ophthalmol
Aksoy B, Tigrel G.
europepmc   +1 more source