Human molecular cytogenetics: From cells to nucleotides

Por Riegel, Mariluce
Publicado em 2014

Citogenética humana /

Por Maluf, Sharbel Weidner., Riegel, Mariluce.
Publicado em 2011

Citogenética humana /

Por Maluf, Sharbel Weidner., Riegel, Mariluce
Publicado em 2011.

Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients

Por Espirito Santo, Layla Damasceno, Moreira, Lília Maria Azevedo, Riegel, Mariluce
Publicado no Biomed Res Int (2016)

Novel duplication on chromosome 16 (q12.1-q21) associated with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case report

Por Odak, Ljubica, Barišić, Ingeborg, Morožin Pohovski, Leona, Riegel, Mariluce, Schinzel, Albert
Publicado em 2011

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

Por Giugliani, Roberto, Federhen, Andressa, Michelin-Tirelli, Kristiane, Riegel, Mariluce, Burin, Maira
Publicado no Genet Mol Biol (2017)

Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects

Por de Souza, Karen Regina, Mergener, Rafaella, Huber, Janaina, Campos Pellanda, Lucia, Riegel, Mariluce
Publicado no Biomed Res Int (2015)

An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidies

Por Steiner, Bernhard, Masood, Rahim, Rufibach, Kaspar, Niedrist, Dunja, Kundert, Oliver, Riegel, Mariluce, Schinzel, Albert
Publicado no Eur J Hum Genet (2015)

Interstitial 14q24.3 to q31.3 deletion in a 6-year-old boy with a non-specific dysmorphic phenotype

Por Riegel, Mariluce, Moreira, Lilia MA, Espirito Santo, Layla D, Toralles, Maria Betânia P, Schinzel, Albert
Publicado no Mol Cytogenet (2014)

Diagnostic and treatment strategies in mucopolysaccharidosis VI

Por Vairo, Filippo, Federhen, Andressa, Baldo, Guilherme, Riegel, Mariluce, Burin, Maira, Leistner-Segal, Sandra, Giugliani, Roberto
Publicado no Appl Clin Genet (2015)

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

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

Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism

Por Giugliani, Roberto, Vairo, Filippo P., Riegel, Mariluce, de Souza, Carolina F. M., Schwartz, Ida V. D., Pena, Sérgio D. J.
Publicado no Orphanet J Rare Dis (2016)

Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome

Por Corrêa, Thiago, Mergener, Rafaella, Leite, Júlio César Loguercio, Galera, Marcial Francis, Moreira, Lilia Maria de Azevedo, Vargas, José Eduardo, Riegel, Mariluce
Publicado no Biomed Res Int (2018)

Genetic causes of intellectual disability in a birth cohort: A population‐based study

Por Karam, Simone M., Riegel, Mariluce, Segal, Sandra L., Félix, Têmis M., Barros, Aluísio J. D., Santos, Iná S., Matijasevich, Alicia, Giugliani, Roberto, Black, Maureen
Publicado no Am J Med Genet A (2015)

Intellectual Disability in a Birth Cohort: Prevalence, Etiology, and Determinants at the Age of 4 Years

Por Karam, Simone M., Barros, Aluísio J.D., Matijasevich, Alícia, dos Santos, Iná S., Anselmi, Luciana, Barros, Fernando, Leistner-Segal, Sandra, Félix, Têmis M., Riegel, Mariluce, Maluf, Sharbel W., Giugliani, Roberto, Black, Maureen M.
Publicado no Public Health Genomics (2016)

New microdeletion and microduplication syndromes: A comprehensive review

Por 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, de Torres, María Luisa, Riegel, Mariluce, Lapunzina, Pablo
Publicado em 2014