Human molecular cytogenetics: from cells to nucleotides

by Riegel,Mariluce
Published 2014

Integrated analysis of the critical region 5p15.3–p15.2 associated with cri-du-chat syndrome

by Corrêa,Thiago, Feltes,Bruno César, Riegel,Mariluce
Published 2019

Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances

by Dorfman,Luiza Emy, Leite,Júlio César L., Giugliani,Roberto, Riegel,Mariluce
Published 2015

Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory

by Giugliani,Roberto, Federhen,Andressa, Michelin-Tirelli,Kristiane, Riegel,Mariluce, Burin,Maira
Published 2017

A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect

by De Molfetta,Greice Andreotti, Felix,Temis Maria, Riegel,Mariluce, Ferraz,Victor Evangelista de Faria, Pina Neto,João Monteiro de
Published 2002

A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity

by Artigalás,Osvaldo, Paskulin,Giorgio, Riegel,Mariluce, Burin,Maira, Saraiva-Pereira,Maria Luiza, Maluf,Sharbel, Kiss,Andrea, Schwartz,Ida Vanessa D.
Published 2012

HEMOPHAGOCYTOSIS BY BLASTS IN A CHILD WITH ACUTE MONOCYTIC LEUKEMIA AFTER CHEMOTHERAPY

by Farias,Mariela Granero, Freitas,Priscila Aparecida Correa, Spagnol,Fabiane, Souza,Meriene Viquetti de, Alegretti,Ana Paula, Riegel,Mariluce, Taniguchi,Adriano Nori Rodrigues, Daudt,Liane Esteves
Published 2021

Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases

by Vieira,Taiane Alves, Trapp,Franciele Barbosa, Souza,Carolina Fischinger Moura de, Faccini,Lavínia Schuler, Jardim,Laura Bannach, Schwartz,Ida Vanessa Doederlein, Riegel,Mariluce, Vargas,Carmen Regla, Burin,Maira Graeff, Leistner-Segal,Sandra, Ashton-Prolla,Patrícia, Giugliani,Roberto
Published 2019

New microdeletion and microduplication syndromes: a comprehensive review

by Nevado,Julián, Mergener,Rafaella, Palomares-Bralo,María, Souza,Karen Regina, Vallespín,Elena, Mena,Rocío, Martínez-Glez,Víctor, Mori,María Ángeles, Santos,Fernando, García-Miñaur,Sixto, García-Santiago,Fé, Mansilla,Elena, Fernández,Luis, Torres,María Luisa de, Riegel,Mariluce, Lapunzina,Pablo
Published 2014

Population medical genetics: translating science to the community

by Giugliani,Roberto, Bender,Fernanda, Couto,Rowena, Bochernitsan,Aline, Brusius-Facchin,Ana Carolina, Burin,Maira, Amorim,Tatiana, Acosta,Angelina Xavier, Purificação,Antônio, Leistner-Segal,Sandra, Saraiva-Pereira,Maria Luiza, Jardim,Laura Bannach, Matte,Ursula, Riegel,Mariluce, Cardoso-dos-Santos,Augusto César, Rodrigues,Graziella, Oliveira,Marcelo Zagonel de, Tagliani-Ribeiro,Alice, Heck,Selia, Dresch,Vanusa, Schuler-Faccini,Lavínia, Kubaski,Francyne
Published 2019