Publications by authors named "Roberto T Zori"

15Publications

Maternal phenylketonuria syndrome: studies in mice suggest a potential approach to a continuing problem.

Pediatr Res 2018 04 31;83(4):889-896. Epub 2018 Jan 31.

Department of Biochemistry and Molecular Biology, University of Florida College of Medicine, University of Florida Academic Health Center, Gainesville, Florida.

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April 2018

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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January 2017

Neonatal diabetes mellitus and congenital diaphragmatic hernia: coincidence or concurrent etiology?

Int J Pediatr Endocrinol 2012 Jul 10;2012(1):21. Epub 2012 Jul 10.

University of Florida, Department of Pediatrics, Division of Endocrinology, PO Box 100296, Gainesville, FL, 32610, USA.

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July 2012

Facial dysmorphism and digit anomalies in three siblings with severe developmental delay.

Clin Dysmorphol 2011 Apr;20(2):92-4

R.C. Philips Unit, Division of Genetics and Metabolism, Department of Pediatrics, University of Florida, Gainesville, USA.

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April 2011

Chromosome painting in the manatee supports Afrotheria and Paenungulata.

BMC Evol Biol 2007 Jan 23;7. Epub 2007 Jan 23.

College of Veterinary Medicine, University of Florida, PO BOX 100245, Gainesville, FL 32610-0245, USA.

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January 2007

Diagnosis of an early precursor-B-ALL presenting with hypereosinophilia using FISH on immunomagnetically selected CD19+ cells.

Clin Adv Hematol Oncol 2005 Jan;3(1):62-4

Division of Hematology/Oncology, University of Florida, Gainesville, FL 32610, USA.

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January 2005

A molecular diagnosis of hyperparathyroidism-jaw tumor syndrome in an adolescent with recurrent kidney stones.

J Pediatr 2004 Oct;145(4):567

Kolling Institute of Medical Research, Royal North Shore Hospital and Department of Molecular Medicine, University of Sydney NSW, Australia.

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October 2004

Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype.

Am J Med Genet A 2003 Jan;116A(2):176-8

Raymond C. Philips Unit and Division of Pediatric Genetics, University of Florida, Gainesville, USA.

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January 2003