Dr Ofelia Pinto de Carvalho

University position
Research Associate
Departments
Department of Medical Genetics
Institutes
Cambridge Institute for Medical Research (CIMR)
Home page
http://www.cimr.cam.ac.uk/investi...
Research Themes
Interests
We identify novel genes involved in either Primary Microcephaly or in Pain sensing disfunctions in human patients.
Research Focus
Keywordsgenetics primary microcephaly pain human |
Clinical conditionsGenetic disorders Hereditary Sensory Autonomic Neuropathies Recessive Primary Microcephaly |
Equipment
Behavioural analysis
Cell culture
Confocal microscopy
Immunohistochemistry
Microscopy
molecular biology techniques (PCR, cloning)
Recombinant protein expression
Collaborators
No collaborators listed
Publications
2011
Bakircioglu M, Carvalho OP, Khurshid M, Cox JJ, Tuysuz B, Barak T, Yilmaz S, Caglayan O, Dincer A, Nicholas AK, Quarrell O, Springell K, Karbani G, Malik S, Gannon C, Sheridan E, Crosier M, Lisgo SN, Lindsay S, Bilguvar K, Gergely F, Gunel M, Woods CG (2011), “The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis.” Am J Hum Genet 88(5):523-35 Details
Carvalho OP, Thornton GK, Hertecant J, Houlden H, Nicholas AK, Cox JJ, Rielly M, Al-Gazali L, Woods CG (2011), “A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy.” J Med Genet 48(2):131-5 Details
2010
Kobayashi S, Pinto de Carvalho O, Schultz W (2010), “Adaptation of reward sensitivity in orbitofrontal neurons.” J Neurosci 30(2):534-44 Details
Nicholas AK, Khurshid M, Désir J, Carvalho OP, Cox JJ, Thornton G, Kausar R, Ansar M, Ahmad W, Verloes A, Passemard S, Misson JP, Lindsay S, Gergely F, Dobyns WB, Roberts E, Abramowicz M, Woods CG (2010), “WDR62 is associated with the spindle pole and is mutated in human microcephaly.” Nat Genet 42(11):1010-4 Details
2009
Bowsher D, Geoffrey Woods C, Nicholas AK, Carvalho OM, Haggett CE, Tedman B, Mackenzie JM, Crooks D, Mahmood N, Twomey JA, Hann S, Jones D, Wymer JP, Albrecht PJ, Argoff CE, Rice FL (2009), “Absence of pain with hyperhidrosis: a new syndrome where vascular afferents may mediate cutaneous sensation.” Pain 147(1-3):287-98 Details
2002
Elgersma Y, Fedorov NB, Ikonen S, Choi ES, Elgersma M, Carvalho OM, Giese KP, Silva AJ (2002), “Inhibitory autophosphorylation of CaMKII controls PSD association, plasticity, and learning.” Neuron 36(3):493-505 Details
2001
Carvalho OM, Silva AJ, Balleine BW (2001), “Evidence of Selective Learning Deficits on Tests of Pavlovian and Instrumental Conditioning in -CaMKIIT286A Mutant Mice.” . International Journal of Comparative Psychology 14(3-4): 161-174


