Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

Autor: Elke de Boer, Burcu Yaldiz, Anne-Sophie Denommé-Pichon, Leslie Matalonga, Steve Laurie, Wouter Steyaert, Rick de Reuver, Christian Gilissen, Michael Kwint, Rolph Pfundt, Alain Verloes, Michèl A.A.P. Willemsen, Bert B.A. de Vries, A. Vitobello, Tjitske Kleefstra, Lisenka E.L.M. Vissers, Enzo Cohen, Isabel Cuesta, Daniel Danis, Fei Gao, Rita Horvath, Mridul Johari, Lennart Johanson, Shuang Li, Heba Morsy, Isabelle Nelson, Ida Paramonov, Iris B.A.W. te Paske, Peter Robinson, Marco Savarese, Ana Töpf, Aurélien Trimouille, Joeri K. van der Velde, Jana Vandrovcova, Antonio Vitobello, Birte Zurek, Kristin M. Abbot, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, Kornelia Ellwanger, Laurence Faivre, Holm Graessner, Tobias B. Haack, Anna Hammarsjö, Marketa Havlovicova, Alexander Hoischen, Anne Hugon, Adam Jackson, Mieke Kerstjens, Anna Lindstrand, Estrella López Martín, Milan Macek, Isabelle Maystadt, Manuela Morleo, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Michele Pinelli, Simone Pizzi, Manuel Posada, Francesca C. Radio, Alessandra Renieri, Caroline Rooryck, Lukas Ryba, Gijs W.E. Santen, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Lisenka Vissers, Pavel Votypka, Klea Vyshka, Kristina Zguro

Publikováno v: European Journal of Medical Genetics, 65(1). ELSEVIER
European Journal of Medical Genetics, 65
European Journal of Medical Genetics, 65, 1

Almost half of all individuals affected by intellectual disability (ID) remain undiagnosed. In the Solve-RD project, exome sequencing (ES) datasets from unresolved individuals with (syndromic) ID (n = 1,472 probands) are systematically reanalyzed, st

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04ccb6aa76dc6f5b62a530f310d30c92
https://pubmed.ncbi.nlm.nih.gov/34863918

[Stenosis of the rectum. A rare complication of prostatic cancer]

Autor: F, Radesa, A, Fidison, C, Radio, A, Zafy

Publikováno v: Journal d'urologie. 97(3)

A case of stenosis of the rectum, a very rare complication of prostate cancer, is reported. One year after operation for an authentic histologically confirmed adenoma of the prostate gland, the patient progressively developed stenosis of the rectum.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4fac53fc05c13234a96487e468474d78
https://pubmed.ncbi.nlm.nih.gov/1834748

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[Left renocolic fistula. Report of a case discovered following diarrheal episodes (proceedings)].

Autor: Radesa F, Radio C, Zafy A

Publikováno v: Journal d'urologie et de nephrologie [J Urol Nephrol (Paris)] 1978 Jun; Vol. 84 (6), pp. 484-8.