Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles

Autor: Korbinian Maria Riedhammer, Corinna Siegel, Bader Alhaddad, Carmen Montoya, Reka Kovacs-Nagy, Matias Wagner, Thomas Meitinger, Julia Hoefele

Publikováno v: Frontiers in Pediatrics, Vol 5 (2017)

IntroductionCongenital anomalies of the kidney and urinary tract (CAKUT) represent the primary cause of chronic kidney disease in children. Many genes have been attributed to the genesis of this disorder. Recently, haploinsufficiency of PBX1 caused b

Externí odkaz: https://doaj.org/article/4c07d947c4734fa6b0bc5f84ae90d60e

Prenatal diagnosis of fetal multicystic dysplastic kidney in the era of three-dimensional ultrasound: 10-year experience

Autor: Pei-Yang Hsu, Chen-Hsiang Yu, Kang Lin, Yueh-Chin Cheng, Chiung-Hsin Chang, Fong-Ming Chang

Publikováno v: Taiwanese Journal of Obstetrics & Gynecology, Vol 51, Iss 4, Pp 596-602 (2012)

Objective: To demonstrate the usefulness of three-dimensional (3D) ultrasound in prenatal diagnosis of fetal multicystic dysplastic kidney (MCDK) disease. Methods: In our previous study, we demonstrated that using 3D ultrasound in conjunction with tr

Externí odkaz: https://doaj.org/article/bcac0a06b7f04096a4b772bbe2fb7054

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Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations

Autor: Jill E. Urquhart, Jenny Higgs, William G. Newman, Elizabeth A Martindale, Glenda M. Beaman, Bronwyn Kerr, Gauri Batra, Rajesh Madhu, Adrian S. Woolf, Naz Khan, Jill Clayton-Smith, Tracy A Briggs, Kate Chandler, James O'Sullivan

Publikováno v: Madhu, R, Beaman, G M, Chandler, K E, O'Sullivan, J, Urquhart, J E, Khan, N, Martindale, E, Briggs, T A, Clayton-Smith, J, Higgs, J, Batra, G, Kerr, B, Woolf, A S & Newman, W G 2020, ' Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations ', European journal of medical genetics, vol. 63, no. 9, 103974 . https://doi.org/10.1016/j.ejmg.2020.103974
European Journal of Medical Genetics

Ligase IV (LIG4) syndrome is a rare disorder of DNA damage repair caused by biallelic, pathogenic variants in LIG4. This is a phenotypically heterogeneous condition with clinical presentation varying from lymphoreticular malignancies in developmental

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85544d79fa1a40cee580ec40c14945c4
http://www.scopus.com/inward/record.url?scp=85086659359&partnerID=8YFLogxK

MP71-13 CONTRALATERAL HYPERTROPHY IN PATIENTS WITH MULTICYSTIC DYSPLASTIC KIDNEYS AFTER NEPHRECTOMY

Autor: Thomas W. Gaither, Steven E. Lerman, Jorge Ballon, Jonathan Bergman

Publikováno v: The Journal of Urology. 203:e1068-e1069

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::aa05a4205704d54ee0b3f8b5a994776e
https://doi.org/10.1097/ju.0000000000000951.013