Results 191 to 200 of about 308,350 (333)

Organ‐sparing strategies in patients with MSI/dMMR tumors including Lynch syndrome: Current state of the art and future perspectives for clinical decision‐making

International Journal of Cancer, EarlyView.
Abstract Deficiency in DNA mismatch repair (dMMR) is a common pathway of carcinogenesis across different tumor types and confers a characteristic microsatellite instability‐high (MSI‐H) molecular phenotype. The MSI‐H/dMMR phenotype may arise from an inherited pathogenic variant in the context of Lynch syndrome and is most frequently observed in ...
Martin Duval, Antoine Dardenne, Thomas Samaille, Leo Mas, Jérémie H. Lefèvre, Xavier Dray, Mathilde Wagner, Romain Cohen, Thierry André   +8 more
wiley   +1 more source

The Clinical Association of Autosomal Dominant Polycystic Kidney Disease and renal cell Carcinoma

, 2011
W W Lane, Evan Lacefield, Ruc Tran, Werner de Riese   +3 more
openalex   +2 more sources

Autosomal dominant polycystic kidney disease—type 2. Ultrasound, genetic and clinical correlations [PDF]

, 2000
Kyproulla Demetriou, Chrysa Tziakouri, Kristiana Anninou, Andri Eleftheriou, Michalis Koptides, Alexia Nicolaou, Constantinos Deltas, Alkis Pierides   +7 more
openalex   +1 more source

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf–Yang Syndrome and the Importance of Paternal Allele Confirmation

Journal of Clinical Laboratory Analysis, EarlyView.
This study reports a de novo MAGEL2 pathogenic variant in a patient with Schaaf–Yang syndrome, confirmed through methylation‐sensitive analysis. Combining genomic sequencing with methylation assays helps accurately determine the parental origin of MAGEL2 mutations.
Youn‐Ji Hong, Misun Yang, Hyeon Jeong Kwon, Jooyoung Cha, Ja‐Hyun Jang, Sung Eun Wang, Eun Sun Lee, Mi‐Ae Jang   +7 more
wiley   +1 more source

Autosomal Dominant Polycystic Kidney Disease

Saudi Journal of Kidney Diseases and Transplantation, 1999
Schwenger Vedat, Zeier Martin
doaj  

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

A Novel N-Terminal <i>PRPF6</i> Variant in Autosomal Dominant Retinitis Pigmentosa. [PDF]

Clin Case Rep
Li N, Dang Y.
europepmc   +1 more source

Mucin-1 Gene Mutation and the Kidney: The Link between Autosomal Dominant Tubulointerstitial Kidney Disease and Focal and Segmental Glomerulosclerosis [PDF]

, 2018
Hernán Trimarchi, Matías Paulero, Tatiana Rengel, Ivan González-Hoyos, Mariano Forrester, Fernando Lombi, Vanesa Pomeranz, Romina Iriarte, Alejandro Iotti   +8 more
openalex   +1 more source

Maralixibat for the treatment of severe xanthomas in two children with Alagille syndrome: Case reports

JPGN Reports, EarlyView.
Abstract Alagille syndrome (ALGS) is a rare, autosomal dominant disorder which presents with a broad range of clinical manifestations, including cholestatic pruritus. A unique manifestation of ALGS is the presence of xanthomas in 24%–42% of patients, which can lead to liver transplantation.
Geetanjali Bora, Ruben E. Quiros‐Tejeira, Bernadette Vitola   +2 more
wiley   +1 more source

Autosomal dominant Weill-Marchesani-like syndrome in a Chinese family due to novel haplotypic mutations in LTBP2

Juan Chen, Jifeng Wan, Jiayi Jin, Guangming Jin, Yongxin Zheng, Danying Zheng, Liuxueying Zhong   +6 more
openalex   +1 more source