The genetic basis of non-syndromic intellectual disability: a review

Por Kaufman, Liana, Ayub, Muhammad, Vincent, John B.
Publicado em 2010

The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability

Por Harripaul, Ricardo, Noor, Abdul, Ayub, Muhammad, Vincent, John B.
Publicado no Cold Spring Harb Perspect Med (2017)

A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient

Por Sheikh, Taimoor I, Mittal, Kirti, Willis, Mary J, Vincent, John B
Publicado em 2013

Paramagnetic (19)F NMR and Electrospray Ionization Mass Spectrometric Studies of Substituted Pyridine Complexes of Chromium(III): Models for Potential Use of (19)F NMR to Probe Cr(...

Por Rhodes, Nicholas R., Belmore, Ken, Cassady, Carolyn J., Vincent, John B.
Publicado em 2013

Forest carbon in lowland Papua New Guinea: Local variation and the importance of small trees

Por Vincent, John B, Henning, Bridget, Saulei, Simon, Sosanika, Gibson, Weiblen, George D
Publicado no Austral Ecol (2015)

Nutritional supplement chromium picolinate causes sterility and lethal mutations in Drosophila melanogaster

Por Hepburn, Dion D. D., Xiao, Jiarong, Bindom, Sharell, Vincent, John B., O'Donnell, Janis
Publicado em 2003

Association of α4β2 nicotinic receptor and heavy smoking in schizophrenia

Por Voineskos, Sophocles, Luca, Vincenzo De, Mensah, Albert, Vincent, John B., Potapova, Natalia, Kennedy, James L.
Publicado em 2007

Characterization of the Organic Component of Low-Molecular-Weight Chromium-Binding Substance and Its Binding of Chromium(2)

Por Chen, Yuan, Watson, Heather M., Gao, Junjie, Sinha, Sarmistha Halder, Cassady, Carolyn J., Vincent, John B.
Publicado em 2011

A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability

Por Khan, Muzammil Ahmad, Rafiq, Muhammad Arshad, Noor, Abdul, Ali, Nadir, Ali, Ghazanfar, Vincent, John B, Ansar, Muhammad
Publicado em 2011

Quantitative leukocyte BDNF promoter methylation analysis in bipolar disorder

Por Strauss, John S, Khare, Tarang, De Luca, Vincenzo, Jeremian, Richie, Kennedy, James L, Vincent, John B, Petronis, Arturas
Publicado em 2013

Identification of a Novel Gene on Chromosome 7q31 That Is Interrupted by a Translocation Breakpoint in an Autistic Individual

Por Vincent, John B., Herbrick, Jo-Anne, Gurling, Hugh M. D., Bolton, Patrick F., Roberts, Wendy, Scherer, Stephen W.
Publicado em 2000

Disruption of a Novel Gene (IMMP2L) by a Breakpoint in 7q31 Associated with Tourette Syndrome

Por Petek, Erwin, Windpassinger, Christian, Vincent, John B., Cheung, Joseph, Boright, Andrew P., Scherer, Stephen W., Kroisel, Peter M., Wagner, Klaus
Publicado em 2001

Oligodontia Is Caused by Mutation in LTBP3, the Gene Encoding Latent TGF-β Binding Protein 3

Por Noor, Abdul, Windpassinger, Christian, Vitcu, Irina, Orlic, Marija, Arshad Rafiq, Muhammad, Khalid, Mahwish, Nasir Malik, Mahmood, Ayub, Muhammad, Alman, Benjamin, Vincent, John B.
Publicado em 2009

Long-term exposure to [Cr(3)O(O(2)CCH(2)CH(3))(6)(H(2)O)(3)](+) in Wistar rats fed normal or high-fat diets does not alter glucose metabolism

Por Herring, Betty J., Logsdon, Amanda L., Lockard, Jarrett E., Miller, Brittany M., Kim, Hanna, Calderon, Eric A., Vincent, John B., Bailey, Melissa M.
Publicado em 2012

Over-Expression of Either MECP2_e1 or MECP2_e2 in Neuronally Differentiated Cells Results in Different Patterns of Gene Expression

Por Orlic-Milacic, Marija, Kaufman, Liana, Mikhailov, Anna, Cheung, Aaron Y. L., Mahmood, Huda, Ellis, James, Gianakopoulos, Peter J., Minassian, Berge A., Vincent, John B.
Publicado em 2014

From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2

Por Sheikh, Taimoor I., Ausió, Juan, Faghfoury, Hannah, Silver, Josh, Lane, Jane B., Eubanks, James H., MacLeod, Patrick, Percy, Alan K., Vincent, John B.
Publicado no Sci Rep (2016)

CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa

Por Noor, Abdul, Windpassinger, Christian, Patel, Megha, Stachowiak, Beata, Mikhailov, Anna, Azam, Matloob, Irfan, Muhammad, Paterson, Andrew D., Lutufullah, Muhammad, Doherty, Dan, Vincent, John B., Ayub, Muhammad
Publicado em 2008

CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa

Por Noor, Abdul, Windpassinger, Christian, Patel, Megha, Stachowiak, Beata, Mikhailov, Anna, Azam, Matloob, Irfan, Muhammad, Siddiqui, Zahid Kamal, Naeem, Farooq, Paterson, Andrew D., Lutfullah, Muhammad, Vincent, John B., Ayub, Muhammad
Publicado em 2008

An X-Linked Myopathy with Postural Muscle Atrophy and Generalized Hypertrophy, Termed XMPMA, Is Caused by Mutations in FHL1

Por Windpassinger, Christian, Schoser, Benedikt, Straub, Volker, Hochmeister, Sonja, Noor, Abdul, Lohberger, Birgit, Farra, Natalie, Petek, Erwin, Schwarzbraun, Thomas, Ofner, Lisa, Löscher, Wolfgang N., Wagner, Klaus, Lochmüller, Hanns, Vincent, John B., Quasthoff, Stefan
Publicado em 2008

Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome

Por Yasui, Dag H., Gonzales, Michael L., Aflatooni, Justin O., Crary, Florence K., Hu, Daniel J., Gavino, Bryant J., Golub, Mari S., Vincent, John B., Carolyn Schanen, N., Olson, Carl O., Rastegar, Mojgan, Lasalle, Janine M.
Publicado em 2014