M. Soares

Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype.

M. I. Melaragno, D. Brunoni, D. Christofolini, 2012, Gene.

Inactivation of AMMECR1 is associated with growth, bone, and heart alterations

Denise L. Perry, J. Rosenfeld, A. Reymond, 2018, Human mutation.

Multicentric Carpotarsal Osteolysis Syndrome in a Mother and Daughter with a MAFB Missense Variant and Natural History of the Disease

M. I. Melaragno, V. A. Meloni, Kelin Chen, 2021, Molecular Syndromology.

Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review

Eduardo Perrone, T. Cavole, M. G. Oliveira, 2020, Genetics and molecular biology.

Congenital afibrinogenemia in a patient with vascular abnormalities and a novel variant: clinical-molecular description and literature review.

F. Milanezi, Eduardo Perrone, L. A. Virmond, 2019, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

Gomez–López–Hernández syndrome: A case report with clinical and molecular evaluation and literature review

M. Cernach, V. D’Almeida, N. L. de Macena Sobreira, 2020, American journal of medical genetics. Part A.

Miller-Dieker Syndrome due to a 5.5-Mb 17p Deletion in a 17;Y Pseudodicentric Chromosome

M. I. Melaragno, F. T. Bellucco, M. F. Soares, 2017, Cytogenetic and Genome Research.

Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype

C. Kim, A. G. Dantas, M. Colovati, 2016, Cytogenetic and Genome Research.

Novel homozygous ALX4 mutation causing frontonasal dysplasia‐2 in a patient with meningoencephalocele

M. I. Melaragno, M. Dias-da-Silva, V. A. Meloni, 2015, Clinical genetics.

Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype.

D. Brunoni, D. Christofolini, F. Piazzon, 2012, Gene.