Resultados de procura - Pagnamenta, Alistair

MichelaNglo: sculpting protein views on web pages without coding por Ferla, Matteo P, Pagnamenta, Alistair T, Damerell, David, Taylor, Jenny C, Marsden, Brian D

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods por Shields, Adrian M., Pagnamenta, Alistair T., Pollard, Andrew J., Taylor, Jenny C., Allroggen, Holger, Patel, Smita Y.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Frequent retrotransposition of endogenous genes in ERCC2-deficient cells derived from a patient with xeroderma pigmentosum por Aoto, Saki, Katagiri, Saki, Wang, Yi, Pagnamenta, Alistair T., Sakamoto-Abutani, Rie, Toyoda, Masashi, Umezawa, Akihiro, Okamura, Kohji

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Activation of an exonic splice‐donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities por Pagnamenta, Alistair T., Howard, Malcolm F., Knight, Samantha J. L., Keays, David A., Quaghebeur, Gerardine, Taylor, Jenny C., Kini, Usha

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion por Elpeleg, Orly, Miller, Chaya, Hershkovitz, Eli, Bitner-Glindzicz, Maria, Bondi-Rubinstein, Gili, Rahman, Shamima, Pagnamenta, Alistair, Eshhar, Sharon, Saada, Ann

Ligazón do recurso Ligazón do recurso

A homozygous variant disrupting the PIGH start‐codon is associated with developmental delay, epilepsy, and microcephaly por Pagnamenta, Alistair T., Murakami, Yoshiko, Anzilotti, Consuelo, Titheradge, Hannah, Oates, Adam J., Morton, Jenny, Kinoshita, Taroh, Kini, Usha, Taylor, Jenny C.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing por Stevenson, Mark, Pagnamenta, Alistair T, Mack, Heather G, Savige, Judith, Giacopuzzi, Edoardo, Lines, Kate E, Taylor, Jenny C, Thakker, Rajesh V

Ligazón do recurso Ligazón do recurso Ligazón do recurso

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3 por Pagnamenta, Alistair T., Holt, Richard, Yusuf, Mohammed, Pinto, Dalila, Wing, Kirsty, Betancur, Catalina, Scherer, Stephen W., Volpi, Emanuela V., Monaco, Anthony P.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia por Stevenson, Mark, Pagnamenta, Alistair T., Reichart, Silvia, Philpott, Charlotte, Lines, Kate E., Gorvin, Caroline M., Lhotta, Karl, Taylor, Jenny C., Thakker, Rajesh V.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

CNVs leading to fusion transcripts in individuals with autism spectrum disorder por Holt, Richard, Sykes, Nuala H, Conceição, Inês C, Cazier, Jean-Baptiste, Anney, Richard JL, Oliveira, Guiomar, Gallagher, Louise, Vicente, Astrid, Monaco, Anthony P, Pagnamenta, Alistair T

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection por Sykes, Nuala H, Toma, Claudio, Wilson, Natalie, Volpi, Emanuela V, Sousa, Inês, Pagnamenta, Alistair T, Tancredi, Raffaella, Battaglia, Agatino, Maestrini, Elena, Bailey, Anthony J, Monaco, Anthony P

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism por Vieland, Veronica J., Hallmayer, Joachim, Huang, Yungui, Pagnamenta, Alistair T., Pinto, Dalila, Khan, Hameed, Monaco, Anthony P., Paterson, Andrew D., Scherer, Stephen W., Sutcliffe, James S., Szatmari, Peter

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Human induced pluripotent stem cell derived erythroblasts can undergo definitive erythropoiesis and co-express gamma and beta globins por Yang, Cheng-Tao, French, Anna, Goh, Pollyanna Agnes, Pagnamenta, Alistair, Mettananda, Sachith, Taylor, Jenny, Knight, Sam, Nathwani, Amit, Roberts, David J, Watt, Suzanne M, Carpenter, Lee

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry por Sousa, Inês, Clark, Taane G, Holt, Richard, Pagnamenta, Alistair T, Mulder, Erik J, Minderaa, Ruud B, Bailey, Anthony J, Battaglia, Agatino, Klauck, Sabine M, Poustka, Fritz, Monaco, Anthony P

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis por Pagnamenta, Alistair T., Howard, Malcolm F., Wisniewski, Eva, Popitsch, Niko, Knight, Samantha J.L., Keays, David A., Quaghebeur, Gerardine, Cox, Helen, Cox, Phillip, Balla, Tamas, Taylor, Jenny C., Kini, Usha

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation por Bolton, Chrissy, Burch, Nicola, Morgan, James, Harrison, Beth, Pandey, Sumeet, Pagnamenta, Alistair T, Taylor, Jenny C, Taylor, John M, Marsh, Judith C W, Potter, Victoria, Travis, Simon, Uhlig, Holm H

Ligazón do recurso Ligazón do recurso Ligazón do recurso

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy por Fassone, Elisa, Duncan, Andrew J., Taanman, Jan-Willem, Pagnamenta, Alistair T., Sadowski, Michael I., Holand, Tatjana, Qasim, Waseem, Rutland, Paul, Calvo, Sarah E., Mootha, Vamsi K., Bitner-Glindzicz, Maria, Rahman, Shamima

Ligazón do recurso Ligazón do recurso Ligazón do recurso

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy por Fassone, Elisa, Duncan, Andrew J., Taanman, Jan-Willem, Pagnamenta, Alistair T., Sadowski, Michael I., Holand, Tatjana, Qasim, Waseem, Rutland, Paul, Calvo, Sarah E., Mootha, Vamsi K., Bitner-Glindzicz, Maria, Rahman, Shamima

Ligazón do recurso Ligazón do recurso Ligazón do recurso

A 15q13.3 microdeletion segregating with autism por Pagnamenta, Alistair T, Wing, Kirsty, Akha, Elham Sadighi, Knight, Samantha JL, Bölte, Sven, Schmötzer, Gabriele, Duketis, Eftichia, Poustka, Fritz, Klauck, Sabine M, Poustka, Annemarie, Ragoussis, Jiannis, Bailey, Anthony J, Monaco, Anthony P

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation por Ragoussis, Vassilis, Pagnamenta, Alistair T, Haines, Rebecca L, Giacopuzzi, Edoardo, McClatchey, Martin A, Sampson, Julian R, Suri, Mohnish, Gardham, Alice, Cobben, Jan-Maarten, Osio, Deborah, Fry, Andrew E, Taylor, Jenny C

Ligazón do recurso Ligazón do recurso Ligazón do recurso