Sakkubai Naidu

Professor Emeritus

1978 …2019
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Fingerprint Dive into the research topics where Sakkubai Naidu is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 3 Similar Profiles
Rett Syndrome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Adrenoleukodystrophy Medicine & Life Sciences
Leukoencephalopathies Medicine & Life Sciences
Brain Medicine & Life Sciences
Methyl-CpG-Binding Protein 2 Medicine & Life Sciences
Alexander Disease Medicine & Life Sciences
Phenotype Medicine & Life Sciences

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Research Output 1978 2019

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

Kim, H. G., Rosenfeld, J. A., Scott, D. A., Bénédicte, G., Labonne, J. D., Brown, J., McGuire, M., Mahida, S., Naidu, S., Gutierrez, J., Lesca, G., Des Portes, V., Bruel, A. L., Sorlin, A., Xia, F., Capri, Y., Muller, E., McKnight, D., Torti, E., Rüschendorf, F. & 8 others, Hummel, O., Islam, Z., Kolatkar, P. R., Layman, L. C., Ryu, D., Kong, I. K., Madan-Khetarpal, S. & Kim, C. H., Oct 22 2019, In : Molecular Autism. 10, 1, 35.

Research output: Contribution to journalArticle

Open Access
Muscle Hypotonia
Autistic Disorder
Intellectual Disability
Epilepsy
Haploinsufficiency

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Undiagnosed Diseases Network, Jan 3 2019, In : American Journal of Human Genetics. 104, 1, p. 164-178 15 p.

Research output: Contribution to journalArticle

Intellectual Disability
Hypertrichosis
Genes
Exome
Eyebrows

Expansion of the clinical spectrum associated with AARS2-related disorders

Srivastava, S., Butala, A., Mahida, S., Richter, J., Mu, W., Poretti, A., Vernon, H. J., VanGerpen, J., Atwal, P. S., Middlebrooks, E. H., Zee, D. S. & Naidu, S., Jan 1 2019, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Leukoencephalopathies
Tremor
Ataxia
Psychiatry
Alanine-tRNA Ligase

Mutation update for the SATB2 gene

Zarate, Y. A., Bosanko, K. A., Caffrey, A. R., Bernstein, J. A., Martin, D. M., Williams, M. S., Berry-Kravis, E. M., Mark, P. R., Manning, M. A., Bhambhani, V., Vargas, M., Seeley, A. H., Estrada-Veras, J. I., van Dooren, M. F., Schwab, M., Vanderver, A., Melis, D., Alsadah, A., Sadler, L., Van Esch, H. & 28 others, Callewaert, B., Oostra, A., Maclean, J., Dentici, M. L., Orlando, V., Lipson, M., Sparagana, S. P., Maarup, T. J., Alsters, S. I. M., Brautbar, A., Kovitch, E., Naidu, S., Lees, M., Smith, D. M., Turner, L., Raggio, V., Spangenberg, L., Garcia-Miñaúr, S., Roeder, E. R., Littlejohn, R. O., Grange, D., Pfotenhauer, J., Jones, M. C., Balasubramanian, M., Martinez-Monseny, A., Blok, L. S., Gavrilova, R. & Fish, J. L., Jan 1 2019, In : Human mutation. 40, 8, p. 1013-1029 17 p.

Research output: Contribution to journalArticle

Genetic Association Studies
Nucleotides
Mutation
Nonsense Codon
Genes

Are dopamine receptor and transporter changes in Rett syndrome reflected in Mecp2-deficient mice?

Wong, D. F., Blue, M. E., Brasic, J. R., Nandi, A., Valentine, H., Stansfield, K. H., Rousset, O., Bibat, G. M., Yablonski, M. E., Johnston, M. V., Gjedde, A. & Naidu, S., Sep 1 2018, In : Experimental Neurology. 307, p. 74-81 8 p.

Research output: Contribution to journalArticle

Rett Syndrome
Dopamine Plasma Membrane Transport Proteins
Dopamine Receptors
Positron-Emission Tomography
Autoradiography