Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype

Autor: Izzi, C., Dordoni, C., Delbarba, E., Mazza, C., Savoldi, G., Econimo, L., Cortinovis, R., Zeni, L., Martin, E., Alberici, F., Scolari, F.

Publikováno v: Kidney International Reports. 7:895-898

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d4949d478654511731249ed37362fef
https://doi.org/10.1016/j.ekir.2021.12.027

Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis.

Autor: Ahram DF; Department of Medicine, Division of Nephrology, Columbia University, New York, New York., Lim TY; Department of Medicine, Division of Nephrology, Columbia University, New York, New York., Ke J; Department of Medicine, Division of Nephrology, Columbia University, New York, New York., Jin G; Department of Medicine, Division of Nephrology, Columbia University, New York, New York., Verbitsky M; Department of Medicine, Division of Nephrology, Columbia University, New York, New York., Bodria M; Division of Nephrology and Renal Transplantation, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Kil BH; Department of Medicine, Division of Nephrology, Columbia University, New York, New York., Chatterjee D; Department of Medicine, Division of Nephrology, Columbia University, New York, New York., Piva SE; Department of Medicine, Division of Nephrology, Columbia University, New York, New York., Marasa M; Department of Medicine, Division of Nephrology, Columbia University, New York, New York., Zhang JY; Department of Medicine, Division of Nephrology, Columbia University, New York, New York., Cocchi E; Department of Medicine, Division of Nephrology, Columbia University, New York, New York., Caridi G; Division of Nephrology and Renal Transplantation, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Laboratory on Molecular Nephrology, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Gucev Z; Medical Faculty of Skopje, University Children's Hospital, Skopje, Macedonia., Lozanovski VJ; Medical Faculty of Skopje, University Children's Hospital, Skopje, Macedonia.; Department of General, Visceral and Transplant Surgery, University Hospital Heidelberg, Heidelberg, Germany., Pisani I; Unità Operativa Nefrologia, Azienda Ospedaliero-Universitaria di Parma, Dipartimento di Medicina e Chirurgia, Università di Parma, Parma, Italy., Izzi C; Division of Nephrology, Department of Obstetrics and Gynecology, ASST Spedali Civili of Brescia, Brescia, Italy., Savoldi G; Medical Genetics Laboratory, ASST-Spedali Civili, Brescia, Italy., Gnutti B; Medical Genetics Laboratory, ASST-Spedali Civili, Brescia, Italy., Capone VP; Department of Medicine, Division of Nephrology, Columbia University, New York, New York.; Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy., Morello W; Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy., Guarino S; Department of Woman and Child and of General and Specialized Surgery, Università degli Studi della Campania 'Luigi Vanvitelli,' Naples, Italy., Esposito P; Department of Internal Medicine, University of Genoa, Genova, Italy.; Unit of Nephrology, IRCCS San Martino Polyclinic Hospital, Genoa, Italy., Lambert S; Yale School of Medicine/Yale New Haven Health System, New Haven, Connecticut., Radhakrishnan J; Department of Medicine, Division of Nephrology, Columbia University, New York, New York., Appel GB; Department of Medicine, Division of Nephrology, Columbia University, New York, New York., Uy NS; Division of Pediatric Nephrology, Department of Pediatric, NewYork-Presbyterian Morgan Stanley Children's Hospital, Columbia University Irving Medical Center, New York, New York., Rao MK; Department of Medicine, Division of Nephrology, Columbia University, New York, New York., Canetta PA; Department of Medicine, Division of Nephrology, Columbia University, New York, New York., Bomback AS; Department of Medicine, Division of Nephrology, Columbia University, New York, New York., Nestor JG; Department of Medicine, Division of Nephrology, Columbia University, New York, New York., Hays T; Department of Pediatrics, Division of Neonatology, Columbia University, New York, New York., Cohen DJ; Department of Medicine, Division of Nephrology, Columbia University, New York, New York., Finale C; Nephrology, Dialysis and Renal Transplantation Unit, Azienda Ospedaliera Universitaria Ospedali Riuniti Umberto I, Lancisi, Salesi of Ancona, Ancona, Italy., Wijk JAEV; Department of Pediatric Nephrology, Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands., La Scola C; Nephrology and Dialysis Unit, Department of Pediatrics, Azienda Ospedaliero Universitaria Sant'Orsola-Malpighi, Bologna, Italy., Baraldi O; Nephrology, Dialysis and Renal Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Tondolo F; Nephrology, Dialysis and Renal Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Di Renzo D; 'Spirito Santo' Hospital of Pescara, Pediatric Surgery of 'G. d'Annunzio' University of Chieti-Pescara, Chieti, Italy., Jamry-Dziurla A; Polish Registry of Congenital Malformations, Chair and Department of Medical Genetics, University of Medical Sciences, Poznan, Poland., Pezzutto A; Nephrology and Dialysis Unit, Department of Medicine, SS Annunziata Hospital, 'G. d'Annunzio' University, Chieti, Italy., Manca V; Department of Pediatric Urology, Azienda Ospedaliera Brotzu, Cagliari, Italy., Mitrotti A; Department of Medicine, Division of Nephrology, Columbia University, New York, New York.; Section of Nephrology, Department of Emergency and Organ Transplantation, University of Bari, Bari, Italy., Santoro D; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Conti G; Department of Pediatric Nephrology, Azienda Ospedaliera Universitaria 'G. Martino,' Messina, Italy., Martino M; Pediatric Nephrology and Dialysis Unit, Pediatric Hospital 'Giovanni XXIII,' Bari, Italy., Giordano M; Pediatric Nephrology and Dialysis Unit, Pediatric Hospital 'Giovanni XXIII,' Bari, Italy., Gesualdo L; Section of Nephrology, Department of Emergency and Organ Transplantation, University of Bari, Bari, Italy., Zibar L; Department of Nephrology, University Hospital Merkur, Zagreb, Croatia.; Faculty of Medicine, University Josip Juraj Strossmayer in Osijek, Osijek, Croatia., Masnata G; Department of Pediatric Urology, Azienda Ospedaliera Brotzu, Cagliari, Italy., Bonomini M; Nephrology and Dialysis Unit, Department of Medicine, SS Annunziata Hospital, 'G. d'Annunzio' University, Chieti, Italy., Alberti D; Pediatric Surgery, University of Brescia, Brescia, Italy., La Manna G; IRCCS Azienda Ospedaliera di Bologna, Nephrology, Dialysis and Kidney Transplant Unit, St. Orsola University Hospital, Bologna, Italy., Caliskan Y; Division of Nephrology, Saint Louis University School of Medicine, Saint Louis, Missouri., Ranghino A; Nephrology, Dialysis and Renal Transplantation Unit, Azienda Ospedaliera Universitaria Ospedali Riuniti Umberto I, Lancisi, Salesi of Ancona, Ancona, Italy., Marzuillo P; Department of Woman and Child and of General and Specialized Surgery, Università degli Studi della Campania 'Luigi Vanvitelli,' Naples, Italy., Kiryluk K; Department of Medicine, Division of Nephrology, Columbia University, New York, New York., Krzemień G; Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw, Poland., Miklaszewska M; Department of Pediatric Nephrology and Hypertension, Jagiellonian University Medical College, Krakow, Poland., Lin F; Division of Pediatric Nephrology, Department of Pediatric, NewYork-Presbyterian Morgan Stanley Children's Hospital, Columbia University Irving Medical Center, New York, New York., Montini G; Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.; Department of Clinical Sciences and Community Health, Giuliana and Bernardo Caprotti Chair of Pediatrics, University of Milano, Milano, Italy., Scolari F; Division of Nephrology and Dialysis, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia and ASST Spedali Civili of Brescia, Brescia, Italy., Fiaccadori E; Unità Operativa Nefrologia, Azienda Ospedaliero-Universitaria di Parma, Dipartimento di Medicina e Chirurgia, Università di Parma, Parma, Italy., Arapović A; Department of Pediatrics, University Hospital of Split, Split, Croatia.; School of Medicine, University of Split, Split, Croatia., Saraga M; Department of Pediatrics, University Hospital of Split, Split, Croatia.; School of Medicine, University of Split, Split, Croatia., McKiernan J; Department of Urology, Columbia University Irving Medical Center, New York, New York., Alam S; Department of Urology, Columbia University Irving Medical Center, New York, New York.; Division of Pediatric Urology, MUSC Health-University Medical Center, Charleston, South Carolina., Zaniew M; Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland., Szczepańska M; Department of Pediatrics, FMS in Zabrze, Medical University of Silesia, Katowice, Poland., Szmigielska A; Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw, Poland., Sikora P; Department of Pediatric Nephrology, Medical University of Lublin, Lublin, Poland., Drożdż D; Department of Pediatric Nephrology and Hypertension, Jagiellonian University Medical College, Krakow, Poland., Mizerska-Wasiak M; Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw, Poland., Mane S; Yale Center for Mendelian Genomics (YCMG), New Haven, Connecticut., Lifton RP; Yale Center for Mendelian Genomics (YCMG), New Haven, Connecticut., Tasic V; Medical Faculty of Skopje, University Children's Hospital, Skopje, Macedonia., Latos-Bielenska A; Polish Registry of Congenital Malformations, Chair and Department of Medical Genetics, University of Medical Sciences, Poznan, Poland., Gharavi AG; Department of Medicine, Division of Nephrology, Columbia University, New York, New York., Ghiggeri GM; Division of Nephrology and Renal Transplantation, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Laboratory on Molecular Nephrology, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Materna-Kiryluk A; Polish Registry of Congenital Malformations, Chair and Department of Medical Genetics, University of Medical Sciences, Poznan, Poland., Westland R; Department of Pediatric Nephrology, Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands., Sanna-Cherchi S; Department of Medicine, Division of Nephrology, Columbia University, New York, New York.

Publikováno v: Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2023 Jun 01; Vol. 34 (6), pp. 1105-1119. Date of Electronic Publication: 2023 Mar 30.

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Familial Exudative Vitreoretinopathy caused by a Homozygous Mutation in TSPAN12 in a Cystic Fibrosis Infant

Autor: Savarese M, Spinelli E, Gandolfo F, Lemma V, Di Fruscio G, Padoan R, Morescalchi F, D'Agostino M, Savoldi G, Semeraro F, Bonatti S., NIGRO, Vincenzo

Familial exudative vitreoretinopathy (FEVR) is a genetic disease affecting the vascularization of the peripheral retina. The clinical manifestations are very heterogeneous, ranging from mildly affected patients, who could present no visual defects, t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3977::89e3693719195c8d334dd4b2a4a44eca
http://hdl.handle.net/11591/236246

Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease.

Autor: Izzi C; Division of Nephrology and Dialysis, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia and ASST Spedali Civili of Brescia, Brescia Italy.; Prenatal Diagnosis Unit, Department of Obstetrics and Gynecology, ASST Spedali Civili, Brescia, Italy., Dordoni C; Division of Nephrology and Dialysis, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia and ASST Spedali Civili of Brescia, Brescia Italy.; Prenatal Diagnosis Unit, Department of Obstetrics and Gynecology, ASST Spedali Civili, Brescia, Italy., Econimo L; Division of Nephrology and Dialysis, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia and ASST Spedali Civili of Brescia, Brescia Italy., Delbarba E; Division of Nephrology and Dialysis, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia and ASST Spedali Civili of Brescia, Brescia Italy., Grati FR; Cytogenetics and Medical Genetics Unit TOMA Advanced Biomedical Assays (Impact Lab Group), Busto Arsizio, Italy., Martin E; Radiology Unit, Montichiari Hospital, ASST Spedali Civili, Brescia, Italy., Mazza C; Medical Genetics Laboratory, ASST-Spedali Civili, Brescia, Italy., Savoldi G; Medical Genetics Laboratory, ASST-Spedali Civili, Brescia, Italy., Rampoldi L; Molecular Genetics of Renal Disorders, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy., Alberici F; Division of Nephrology and Dialysis, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia and ASST Spedali Civili of Brescia, Brescia Italy., Scolari F; Division of Nephrology and Dialysis, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia and ASST Spedali Civili of Brescia, Brescia Italy.

Publikováno v: Kidney international reports [Kidney Int Rep] 2020 Oct 07; Vol. 5 (12), pp. 2341-2350. Date of Electronic Publication: 2020 Oct 07 (Print Publication: 2020).