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Newsletter articlesFull Text
INTERNATIONAL PATENT: MENDEZ ZARATE, YURI FILES APPLICATION FOR "DYNAMIC FIN ALIGNMENT SYSTEM"
Publisher:Washington, D.C: HT Digital Streams Limited
Journal title:US Fed News Service, Including US State News, 2022
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ArticlesPeer ReviewedFull Text
Using facial analysis technology in a typical genetic clinic: experience from 30 individuals from a single institution
Author / Creator:Zarate, Yuri A ; Bosanko, Katherine A ; Gripp, Karen W
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2019-12, Vol.64 (12), p.1243-1245
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ArticlesPeer ReviewedFull Text
Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review
Author / Creator:Szabo, Shelagh M ; Tomazos, Ioannis C ; Petryk, Anna ; Powell, Lauren C ; Donato, Bonnie M K ; Zarate, Yuri A ; Tiulpakov, Anatoly ; Martos-Moreno, Gabriel Ángel
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2019-04, Vol.14 (1), p.85-85, Article 85
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ArticlesPeer ReviewedFull Text
Managing Sleep and Behavioral Problems in a Preschooler with SATB2-Associated Syndrome
Author / Creator:Kumar, Nihit ; Zarate, Yuri A.
Publisher:Cairo, Egypt: Hindawi Publishing Corporation
Journal title:Case reports in genetics, 2020-07, Vol.2020 (2020), p.1-4
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ArticlesPeer ReviewedFull Text
Lysosomal Storage Disease 3: Fabry's disease
Author / Creator:Zarate, Yuri A ; Hopkin, Robert J
Publisher:London: Elsevier Limited
Journal title:The Lancet (British edition), 2008-10, Vol.372 (9647), p.1427
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ArticlesPeer ReviewedFull Text
Fabry's disease
Author / Creator:Zarate, Yuri A, MD ; Hopkin, Robert J, Dr
Publisher:London: Elsevier Ltd
Journal title:The Lancet (British edition), 2008-10, Vol.372 (9647), p.1427-1435
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ArticlesPeer ReviewedFull Text
A case of minimal change disease in a Fabry patient
Author / Creator:Zarate, Yuri A. ; Patterson, Larry ; Yin, Hong ; Hopkin, Robert J.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Pediatric nephrology (Berlin, West), 2010-03, Vol.25 (3), p.553-556
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ArticlesPeer ReviewedFull Text
Prevalence and Outcomes of Primary Left Ventricular Dysfunction in Marfan Syndrome
Author / Creator:Connor, Brynn S. ; Algaze, Claudia A. ; Narkevičiūtė, Aistė ; Anguiano, Beatriz ; Pariani, Mitchel ; Zarate, Yuri A. ; Collins, R. Thomas
Publisher:United States: Elsevier Inc
Journal title:The American journal of cardiology, 2022-07, Vol.175, p.119-126
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ArticlesPeer ReviewedFull Text
Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes
Author / Creator:Joery den Hoed ; Hashimoto, Hirokazu ; Khan, Mubeen ; Semmekrot, Fleur ; Bosanko, Katherine A ; Abe-Hatano, Chihiro ; Nakagawa, Eiji ; Venselaar, Hanka ; Quercia, Nada ; Chad, Lauren ; Kurosaka, Hiroshi ; Rondeau, Stephane ; Fisher, Simon E ; Yamamoto, Shinya ; Zarate, Yuri A
Publisher:London: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2024-11, p.jmg-2024-110015
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ArticlesPeer ReviewedFull Text
Description of the First Case of Adenomyomatosis of the Gallbladder in an Infant
Author / Creator:Vengoechea, Jaime ; Bosanko, Katherine A. ; Jarasvaraparn, Chaowapong ; McDonough, Elizabeth M. ; Zarate, Yuri A.
Publisher:Cairo, Egypt: Hindawi Puplishing Corporation
Journal title:Case reports in pediatrics, 2014-01, Vol.2014 (2014), p.1-3
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ArticlesPeer ReviewedFull Text
Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome
Author / Creator:Zarate, Yuri A. ; Bosanko, Katherine ; Kannan, Amrit ; Thomason, Ashlen ; Nutt, Beth ; Kumar, Nihit ; Simmons, Kirt ; Hiegert, Aaron ; Hartzell, Larry ; Johnson, Adam ; Prater, Tabitha ; Pérez-Palma, Eduardo ; Brünger, Tobias ; Stefanski, Arthur ; Lal, Dennis ; Caffrey, Aisling R.
Publisher:Hoboken: Hindawi
Journal title:Human mutation, 2023-04, Vol.2023, p.1-9
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ArticlesPeer ReviewedFull Text
Lessons from a pair of siblings with BPAN
Author / Creator:Zarate, Yuri A ; Jones, Julie R ; Jones, Melanie A ; Millan, Francisca ; Juusola, Jane ; Vertino-Bell, Annette ; Schaefer, G Bradley ; Kruer, Michael C
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-07, Vol.24 (7), p.1080-1083
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ArticlesPeer ReviewedFull Text
Aortic Geometry in Patients with Duplication 7q11.23 Compared to Healthy Controls
Author / Creator:Lechich, Kirstie M. ; Zarate, Yuri A. ; Daily, Joshua A . ; Collins, R. Thomas
Publisher:New York: Springer US
Journal title:Pediatric cardiology, 2020-08, Vol.41 (6), p.1199-1205
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ArticlesPeer ReviewedFull Text
Dental radiographic findings in 18 individuals with SATB2-associated syndrome
Author / Creator:Scott, John ; Adams, Chad ; Simmons, Kirt ; Feather, Andrea ; Jones, John ; Hartzell, Larry ; Wesley, Lucia ; Johnson, Adam ; Fish, Jennifer ; Bosanko, Katherine ; Beetstra, Stephen ; Zarate, Yuri A.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Clinical oral investigations, 2018-11, Vol.22 (8), p.2947-2951
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ArticlesPeer ReviewedFull Text
Radioulnar Synostosis and Brain Abnormalities in a Patient with 17q21.31 Microdeletion Involving EFTUD2
Author / Creator:Zarate, Yuri A. ; Bell, Carla ; Schaefer, G. Bradley
Publisher:Los Angeles, CA: SAGE Publications
Journal title:The Cleft palate-craniofacial journal, 2015-03, Vol.52 (2), p.237-239
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ArticlesPeer ReviewedFull Text
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants
Author / Creator:Zarate, Yuri A. ; Uehara, Tomoko ; Abe, Kota ; Oginuma, Masayuki ; Harako, Sora ; Ishitani, Shizuka ; Lehesjoki, Anna-Elina ; Bierhals, Tatjana ; Kloth, Katja ; Ehmke, Nadja ; Horn, Denise ; Holtgrewe, Manuel ; Anderson, Katherine ; Viskochil, David ; Edgar-Zarate, Courtney L. ; Sacoto, Maria J. Guillen ; Schnur, Rhonda E. ; Morrow, Michelle M. ; Sanchez-Valle, Amarilis ; Pappas, John ; Rabin, Rachel ; Muona, Mikko ; Anttonen, Anna-Kaisa ; Platzer, Konrad ; Luppe, Johannes ; Gburek-Augustat, Janina ; Kaname, Tadashi ; Okamoto, Nobuhiko ; Mizuno, Seiji ; Kaido, Yusaku ; Ohkuma, Yoshiaki ; Hirose, Yutaka ; Ishitani, Tohru ; Kosaki, Kenjiro
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-06, Vol.23 (6), p.1050-1057
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ArticlesPeer ReviewedFull Text
Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations
Author / Creator:Zarate, Yuri A. ; Örsell, Jenny-Li ; Bosanko, Katherine ; Srikanth, Sujata ; Cascio, Lauren ; Pauly, Rini ; Boccuto, Luigi
Publisher:New York: Springer US
Journal title:Metabolic brain disease, 2021-06, Vol.36 (5), p.1049-1056
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ArticlesPeer ReviewedFull Text
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
Author / Creator:Verberne, Eline A. ; Goh, Shuxiang ; England, Jade ; van Ginkel, Manon ; Rafael-Croes, Louise ; Maas, Saskia ; Polstra, Abeltje ; Zarate, Yuri A. ; Bosanko, Katherine A. ; Pechter, Kieran B. ; Bedoukian, Emma ; Izumi, Kosuke ; Chaudhry, Ayeshah ; Robin, Nathaniel H. ; Boothe, Megan ; Lippa, Natalie C. ; Aggarwal, Vimla ; De Vivo, Darryl C. ; Lehman, Anna ; Study, Causes ; Stockler, Sylvia ; Bruel, Ange-Line ; Isidor, Bertrand ; Lemons, Jennifer ; Rodriguez-Buritica, David F. ; Richmond, Christopher M. ; Stark, Zornitza ; Agrawal, Pankaj B. ; Kooy, R. Frank ; Meuwissen, Marije E. C. ; Koolen, David A. ; Pfundt, Rolf ; Lieden, Agne ; Anderlid, Britt-Marie ; Glatz, Dagmar ; Mannens, Marcel M. A. M. ; Bakshi, Madhura ; Mallette, Frédérick A. ; van Haelst, Mieke M. ; Campeau, Philippe M.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2021-02, Vol.23 (2), p.374-383
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ArticlesPeer ReviewedFull Text
Molecular and Cytogenetic Evaluation of a Patient with Ring Chromosome 13 and Discordant Results
Author / Creator:Kaylor, Julie ; Alfaro, Maria ; Ishwar, Arjun ; Sailey, Charles ; Sawyer, Jeffrey ; Zarate, Yuri A.
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Cytogenetic and genome research, 2014-01, Vol.144 (2), p.104-108
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ArticlesPeer ReviewedFull Text
Aortic dilation in pediatric patients
Author / Creator:Zarate, Yuri A. ; Sellars, Elizabeth ; Lepard, Tiffany ; Carlo, Waldemar F. ; Tang, Xinyu ; Collins, R. Thomas
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:European journal of pediatrics, 2015-12, Vol.174 (12), p.1585-1592
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Showing 1 to 20 of 36 results

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INTERNATIONAL PATENT: MENDEZ ZARATE, YURI FILES APPLICATION FOR "DYNAMIC FIN ALIGNMENT SYSTEM"

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Using facial analysis technology in a typical genetic clinic: experience from 30 individuals from a single institution

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Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review

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Managing Sleep and Behavioral Problems in a Preschooler with SATB2-Associated Syndrome

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Lysosomal Storage Disease 3: Fabry's disease

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Fabry's disease

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A case of minimal change disease in a Fabry patient

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Prevalence and Outcomes of Primary Left Ventricular Dysfunction in Marfan Syndrome

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Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes

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Description of the First Case of Adenomyomatosis of the Gallbladder in an Infant

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Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome

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Lessons from a pair of siblings with BPAN

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Aortic Geometry in Patients with Duplication 7q11.23 Compared to Healthy Controls

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Dental radiographic findings in 18 individuals with SATB2-associated syndrome

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Radioulnar Synostosis and Brain Abnormalities in a Patient with 17q21.31 Microdeletion Involving EFTUD2

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CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

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Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations

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JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

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Molecular and Cytogenetic Evaluation of a Patient with Ring Chromosome 13 and Discordant Results

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Aortic dilation in pediatric patients

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