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Fingerprint Dive into the research topics where Maria Chiara Manzini is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 1 Similar Profiles
Mutation Medicine & Life Sciences
Walker-Warburg Syndrome Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Genes Medicine & Life Sciences
Muscular Dystrophies Medicine & Life Sciences
Autistic Disorder Medicine & Life Sciences
Brain Medicine & Life Sciences
Dystroglycans Medicine & Life Sciences

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Projects 2011 2024

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Muscular Dystrophies
Molecular Biology
Muscles
Brain
Sex Characteristics
Cognition
Cyclic AMP Response Element-Binding Protein
Intellectual Disability
Knockout Mice
Human Development
Intellectual Disability
Cognition
Hope
Phenotype

Research Output 1998 2019

  • 1232 Citations
  • 17 h-Index
  • 34 Article
  • 1 Chapter
  • 1 Short survey
  • 1 Review article

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay

Lee, S., Chen, D. Y., Zaki, M. S., Maroofian, R., Houlden, H., Di Donato, N., Abdin, D., Morsy, H., Mirzaa, G. M., Dobyns, W. B., McEvoy-Venneri, J., Stanley, V., James, K. N., Mancini, G. M. S., Schot, R., Kalayci, T., Altunoglu, U., Karimiani, E. G., Brick, L., Kozenko, M. & 4 others, Jamshidi, Y., Manzini, M. C., Beiraghi Toosi, M. & Gleeson, J. G., Oct 3 2019, In : American Journal of Human Genetics. 105, 4, p. 844-853 10 p.

Research output: Contribution to journalArticle

Lissencephaly
Loss of Heterozygosity
adenomatous polyposis coli protein 2
Catenins
Occipital Lobe
1 Citation (Scopus)

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

Nabais Sá, M. J., Jensik, P. J., McGee, S. R., Parker, M. J., Lahiri, N., McNeil, E. P., Kroes, H. Y., Hagerman, R. J., Harrison, R. E., Montgomery, T., Splitt, M., Palmer, E. E., Sachdev, R. K., Mefford, H. C., Scott, A. A., Martinez-Agosto, J. A., Lorenz, R., Orenstein, N., Berg, J. N., Amiel, J. & 18 others, Heron, D., Keren, B., Cobben, J. M., Menke, L. A., Marco, E. J., Graham, J. M., Pierson, T. M., Karimiani, E. G., Maroofian, R., Manzini, M. C., Cauley, E. S., Colombo, R., Odent, S., Dubourg, C., Phornphutkul, C., de Brouwer, A. P. M., de Vries, B. B. A. & Vulto-vanSilfhout, A. T., Sep 1 2019, In : Genetics in Medicine. 21, 9, p. 2059-2069 11 p.

Research output: Contribution to journalArticle

Language Development Disorders
Phenotype
Inheritance Patterns
Microcephaly
Pain Threshold
3 Citations (Scopus)

Male-Specific cAMP Signaling in the Hippocampus Controls Spatial Memory Deficits in a Mouse Model of Autism and Intellectual Disability

Zamarbide, M., Mossa, A., Muñoz-Llancao, P., Wilkinson, M. K., Pond, H. L., Oaks, A. W. & Manzini, M. C., May 1 2019, In : Biological Psychiatry. 85, 9, p. 760-768 9 p.

Research output: Contribution to journalArticle

Memory Disorders
Autistic Disorder
Intellectual Disability
Cyclic AMP
Hippocampus
11 Citations (Scopus)

Microsampling Capillary Electrophoresis Mass Spectrometry Enables Single-Cell Proteomics in Complex Tissues: Developing Cell Clones in Live Xenopus laevis and Zebrafish Embryos

Lombard-Banek, C., Moody, S. A., Manzini, M. C. & Nemes, P., Apr 2 2019, In : Analytical Chemistry. 91, 7, p. 4797-4805 9 p.

Research output: Contribution to journalArticle

Clone cells
Capillary electrophoresis
Mass spectrometry
Tissue
Labels

Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556

Cauley, E. S., Hamed, A., Mohamed, I. N., Elseed, M., Martinez, S., Yahia, A., Abozar, F., Abubakr, R., Koko, M., Elsayed, L., Piao, X., Salih, M. A. & Manzini, M. C., May 8 2019, In : Neurogenetics. 20, 2, p. 91-98 8 p.

Research output: Contribution to journalArticle

Hydrocephalus
Mutation
Brain
Exome
Phenotype