Snippet Search

Searching 11,557,552 documents.
Discover how a particular term or phrase is used in scientific literature

Showing 1 to 25 of 4284 matching articles

Results per page:

... disease course in patients with a  homozygous 
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations
Eggens, Veerle RC; Barth, Peter G; Niermeijer, Jikke-Mien F; Berg, Jonathan N; Darin, Niklas; Dixit, Abhijit; Fluss, Joel; Foulds, Nicola; Fowler, Darren; Hortobágyi, Tibor; Jacques, Thomas; King, Mary D; Makrythanasis, Periklis; Máté, Adrienn; Nicoll, James AR; O’Rourke, Declan; Price, Sue; Williams, Andrew N; Wilson, Louise; Suri, Mohnish; Sztriha, Laszlo; Dijns-de Wissel, Marit B; van Meegen, Mia T; van Ruissen, Fred; Aronica, Eleonora; Troost, Dirk; Majoie, Charles BLM; Marquering, Henk A; Poll-Thé, Bwee Tien; Baas, Frank
p.D132A mutation. ...
... heterogeneity of ASD. Our strategy,  homozygous 
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
Casey, Jillian P.; Magalhaes, Tiago; Conroy, Judith M.; Regan, Regina; Shah, Naisha; Anney, Richard; Shields, Denis C.; Abrahams, Brett S.; Almeida, Joana; Bacchelli, Elena; Bailey, Anthony J.; Baird, Gillian; Battaglia, Agatino; Berney, Tom; Bolshakova, Nadia; Bolton, Patrick F.; Bourgeron, Thomas; Brennan, Sean; Cali, Phil; Correia, Catarina; Corsello, Christina; Coutanche, Marc; Dawson, Geraldine; Jonge, Maretha; Delorme, Richard; Duketis, Eftichia; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridget A.; Folstein, Susan E.; Foley, Suzanne; Fombonne, Eric; Freitag, Christine M.; Gilbert, John; Gillberg, Christopher; Glessner, Joseph T.; Green, Jonathan; Guter, Stephen J.; Hakonarson, Hakon; Holt, Richard; Hughes, Gillian; Hus, Vanessa; Igliozzi, Roberta; Kim, Cecilia; Klauck, Sabine M.; Kolevzon, Alexander; Lamb, Janine A.; Leboyer, Marion; Couteur, Ann; Leventhal, Bennett L.; Lord, Catherine; Lund, Sabata C.; Maestrini, Elena; Mantoulan, Carine; Marshall, Christian R.; McConachie, Helen; McDougle, Christopher J.; McGrath, Jane; McMahon, William M.; Merikangas, Alison; Miller, Judith; Minopoli, Fiorella; Mirza, Ghazala K.; Munson, Jeff; Nelson, Stanley F.; Nygren, Gudrun; Oliveira, Guiomar; Pagnamenta, Alistair T.; Papanikolaou, Katerina; Parr, Jeremy R.; Parrini, Barbara; Pickles, Andrew; Pinto, Dalila; Piven, Joseph; Posey, David J.; Poustka, Annemarie; Poustka, Fritz; Ragoussis, Jiannis; Roge, Bernadette; Rutter, Michael L.; Sequeira, Ana F.; Soorya, Latha; Sousa, Inês; Sykes, Nuala; Stoppioni, Vera; Tancredi, Raffaella; Tauber, Maïté; Thompson, Ann P.; Thomson, Susanne; Tsiantis, John; Engeland, Herman; Vincent, John B.; Volkmar, Fred; Vorstman, Jacob A. S.; Wallace, Simon; Wang, Kai; Wassink, Thomas H.; White, Kathy; Wing, Kirsty; Wittemeyer, Kerstin; Yaspan, Brian L.; Zwaigenbaum, Lonnie; Betancur, Catalina; Buxbaum, Joseph D.; Cantor, Rita M.; Cook, Edwin H.; Coon, Hilary; Cuccaro, Michael L.; Geschwind, Daniel H.; Haines, Jonathan L.; Hallmayer, Joachim; Monaco, Anthony P.; Nurnberger, John I., Jr.; Pericak-Vance, Margaret A.; Schellenberg, Gerard D.; Scherer, Stephen W.; Sutcliffe, James S.; Szatmari, Peter; Vieland, Veronica J.; Wijsman, Ellen M.; Green, Andrew; Gill, Michael; Gallagher, Louise; Vicente, Astrid; Ennis, Sean
haplotype (HH) mapping, aims to detect ...
... expressing the transgene in hemizygous and  homozygous 
Relative transgene expression frequencies in homozygous versus hemizygous transgenic mice
Relative transgene expression frequencies in homozygous versus hemizygous transgenic mice
Chang, Su-Ping; Opsahl, Margaret L.; Whitelaw, C. Bruce A.; Morley, Steven D.; West, John D.
mosaic 21OH/LacZ mouse adrenals and mosaic ...
... We now report the first description of a  homozygous 
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
Fratta, Pietro; Poulter, Mark; Lashley, Tammaryn; Rohrer, Jonathan D.; Polke, James M.; Beck, Jon; Ryan, Natalie; Hensman, Davina; Mizielinska, Sarah; Waite, Adrian J.; Lai, Mang-Ching; Gendron, Tania F.; Petrucelli, Leonard; Fisher, Elizabeth M. C.; Revesz, Tamas; Warren, Jason D.; Collinge, John; Isaacs, Adrian M.; Mead, Simon
patient and compare it to a series of ...
... within families or, in the case of  homozygous 
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort
Davidson, G. L.; Murphy, S. M.; Polke, J. M.; Laura, M.; Salih, M. A. M.; Muntoni, F.; Blake, J.; Brandner, S.; Davies, N.; Horvath, R.; Price, S.; Donaghy, M.; Roberts, M.; Foulds, N.; Ramdharry, G.; Soler, D.; Lunn, M. P.; Manji, H.; Davis, M. B.; Houlden, H.; Reilly, M. M.
variants, if unaffected parents were ...
... apparent), 8 of 50 dogs were found to be  homozygous 
A retrospective study of the prevalence of the canine degenerative myelopathy associated superoxide dismutase 1 mutation (SOD1:c.118G > A) in a referral population of German Shepherd dogs from the UK
A retrospective study of the prevalence of the canine degenerative myelopathy associated superoxide dismutase 1 mutation (SOD1:c.118G > A) in a referral population of German Shepherd dogs from the UK
Holder, Angela L; Price, James A; Adams, Jamie P; Volk, Holger A; Catchpole, Brian
and a further 19 were heterozygous for the ...
... disease signs when compared to mice  homozygous 
Spir2; a novel QTL on chromosome 4 contributes to susceptibility to pneumococcal infection in mice
Spir2; a novel QTL on chromosome 4 contributes to susceptibility to pneumococcal infection in mice
Wisby, Laura; Fernandes, Vitor E; Neill, Daniel R; Kadioglu, Aras; Andrew, Peter W; Denny, Paul
for BALB/c (p = 0.01) or CBA/Ca (p = ...
... we identify 27 genes that have  homozygous 
Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing
Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing
Jansen, Iris E.; Ye, Hui; Heetveld, Sasja; Lechler, Marie C.; Michels, Helen; Seinstra, Renée I.; Lubbe, Steven J.; Drouet, Valérie; Lesage, Suzanne; Majounie, Elisa; Gibbs, J. Raphael; Nalls, Mike A.; Ryten, Mina; Botia, Juan A.; Vandrovcova, Jana; Simon-Sanchez, Javier; Castillo-Lizardo, Melissa; Rizzu, Patrizia; Blauwendraat, Cornelis; Chouhan, Amit K.; Li, Yarong; Yogi, Puja; Amin, Najaf; van Duijn, Cornelia M.; Morris, Huw R.; Brice, Alexis; Singleton, Andrew B.; David, Della C.; Nollen, Ellen A.; Jain, Shushant; Shulman, Joshua M.; Heutink, Peter; International Parkinson’s Disease Genetics Consortium (IPGDC)
or compound heterozygous loss-of-function ...
... in 72 %. These include two novel  homozygous 
Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia
Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia
Senniappan, Senthil; Sadeghizadeh, Atefeh; Flanagan, Sarah E; Ellard, Sian; Hashemipour, Mahin; Hosseinzadeh, Majid; Salehi, Mansour; Hussain, Khalid
ABCC8 mutations. ...
... into the T2 generation when Cas9-free  homozygous 
CRISPR-Cas9 and CRISPR-Cpf1 mediated targeting of a stomatal developmental gene EPFL9 in rice
CRISPR-Cas9 and CRISPR-Cpf1 mediated targeting of a stomatal developmental gene EPFL9 in rice
Yin, Xiaojia; Biswal, Akshaya K.; Dionora, Jacqueline; Perdigon, Kristel M.; Balahadia, Christian P.; Mazumdar, Shamik; Chater, Caspar; Lin, Hsiang-Chun; Coe, Robert A.; Kretzschmar, Tobias; Gray, Julie E.; Quick, Paul W.; Bandyopadhyay, Anindya
mutants were obtained. ...
... hepatocellular carcinoma patients who are  homozygous 
Hepatocellular carcinoma and the penetrance of HFEC282Y mutations: a cross sectional study
Hepatocellular carcinoma and the penetrance of HFEC282Y mutations: a cross sectional study
Willis, Gavin; Bardsley, Vicky; Fellows, Ian W; Lonsdale, Ray; Wimperis, Jennie Z; Jennings, Barbara A
for the HFE C282Y mutation; and to ...
... to chromosome 19, we identified a  homozygous 
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome
McKie, Arthur B; Alsaedi, Atif; Vogt, Julie; Stuurman, Kyra E; Weiss, Marjan M; Shakeel, Hassan; Tee, Louise; Morgan, Neil V; Nikkels, Peter G J; van Haaften, Gijs; Park, Soo-Mi; van der Smagt, Jasper J; Bugiani, Marianna; Maher, Eamonn R
null mutation in the RYR1 gene in a ...
... syndrome in addition to SURF1 disease (  homozygous 
SURF1 deficiency: a multi-centre natural history study
SURF1 deficiency: a multi-centre natural history study
Wedatilake, Yehani; Brown, Ruth M; McFarland, Robert; Yaplito-Lee, Joy; Morris, Andrew A M; Champion, Mike; Jardine, Phillip E; Clarke, Antonia; Thorburn, David R; Taylor, Robert W; Land, John M; Forrest, Katharine; Dobbie, Angus; Simmons, Louise; Aasheim, Erlend T; Ketteridge, David; Hanrahan, Donncha; Chakrapani, Anupam; Brown, Garry K; Rahman, Shamima
c.799_800delCT) and was excluded from ...
... 11, 12 [20], and case 13, which has a  homozygous 
C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci
C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci
Mizielinska, Sarah; Lashley, Tammaryn; Norona, Frances E.; Clayton, Emma L.; Ridler, Charlotte E.; Fratta, Pietro; Isaacs, Adrian M.
repeat expansion [12]). ...
... allele that we have named chuzhoi (chz).  Homozygous 
The novel mouse mutant, chuzhoi, has disruption of Ptk7 protein and exhibits defects in neural tube, heart and lung development and abnormal planar cell polarity in the ear
The novel mouse mutant, chuzhoi, has disruption of Ptk7 protein and exhibits defects in neural tube, heart and lung development and abnormal planar cell polarity in the ear
Paudyal, Anju; Damrau, Christine; Patterson, Victoria L; Ermakov, Alexander; Formstone, Caroline; Lalanne, Zuzanna; Wells, Sara; Lu, Xiaowei; Norris, Dominic P; Dean, Charlotte H; Henderson, Deborah J; Murdoch, Jennifer N
chuzhoi mutants exhibit ...
... N-acyl transferase. The patient was  homozygous 
Bile acid-CoA ligase deficiency—a new inborn error of bile acid metabolism
Bile acid-CoA ligase deficiency—a new inborn error of bile acid metabolism
Chong, Catherine P. K.; Mills, Philippa B.; McClean, Patricia; Gissen, Paul; Bruce, Christopher; Stahlschmidt, Jens; Knisely, A. S.; Clayton, Peter T.
for the missense mutation c.1012C > T in ...
... achieved in recessively-inherited CHI with  homozygous 
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time
Salomon-Estebanez, Maria; Flanagan, Sarah E.; Ellard, Sian; Rigby, Lindsey; Bowden, Louise; Mohamed, Zainab; Nicholson, Jacqueline; Skae, Mars; Hall, Caroline; Craigie, Ross; Padidela, Raja; Murphy, Nuala; Randell, Tabitha; Cosgrove, Karen E.; Dunne, Mark J.; Banerjee, Indraneel
(n = 3), compound heterozygous (n = 2) and ...
... requiring neurosurgical intervention were  homozygous 
Paediatric and adult vascular intracranial complications of sickle-cell disease
Paediatric and adult vascular intracranial complications of sickle-cell disease
Liaquat, Imran; Murphy, Mary; Bassi, Sanjeev; Bullock, Peter R.
for SCD. ...
... significantly increased in Phf11 mutant  homozygous 
Functional analysis of a novel ENU-induced PHD finger 11 (Phf11) mouse mutant
Functional analysis of a novel ENU-induced PHD finger 11 (Phf11) mouse mutant
Zhang, Youming; Dean, Charlotte; Chessum, Lauren; Nguyen, Dao; Stewart, Michelle; Taylor, Martin; Cookson, William O.; Moffatt, Miriam F.
lungs compared to control littermates. ...
... were measured on isolated islets. Results  Homozygous 
A mutation in KCNJ11 causing human hyperinsulinism (Y12X) results in a glucose-intolerant phenotype in the mouse
A mutation in KCNJ11 causing human hyperinsulinism (Y12X) results in a glucose-intolerant phenotype in the mouse
Hugill, A.; Shimomura, K.; Ashcroft, F. M.; Cox, R. D.
male and female adult Kcnj11 Y12STOP mice ...
... deletion 0 0% 10 28% 162 72% 172 64%    Homozygous 
Prognostic and predictive markers in recurrent high grade glioma; results from the BR12 randomised trial
Prognostic and predictive markers in recurrent high grade glioma; results from the BR12 randomised trial
Collins, Vincent Peter; Ichimura, Koichi; Di, Ying; Pearson, Danita; Chan, Ray; Thompson, Lindsay C; Gabe, Rhian; Brada, Michael; Stenning, Sally P
deletion 0 0% 0 0% 9 4% 9 3% MGMT  Normal ...
... controls. In our analyses, we identify one  homozygous 
Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer’s disease
Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer’s disease
Nalls, M. A.; Guerreiro, R. J.; Simon-Sanchez, J.; Bras, J. T.; Traynor, B. J.; Gibbs, J. R.; Launer, L.; Hardy, J.; Singleton, A. B.
region on chromosome 8 that is ...
... are evident on the human chromosome. D-G.  Homozygous 
A mouse chromosome 4 balancer ENU-mutagenesis screen isolates eleven lethal lines
A mouse chromosome 4 balancer ENU-mutagenesis screen isolates eleven lethal lines
Boles, Melissa K; Wilkinson, Bonney M; Maxwell, Andrea; Lai, Lihua; Mills, Alea A; Nishijima, Ichiko; Salinger, Andrew P; Moskowitz, Ivan; Hirschi, Karen K; Liu, Bin; Bradley, Allan; Justice, Monica J
mutants, heterozygous balancer animals, ...
... (wt) mice as well as in hemizygous and  homozygous 
Reduced secretagogin expression in the hippocampus of P301L tau transgenic mice
Reduced secretagogin expression in the hippocampus of P301L tau transgenic mice
Attems, Johannes; Ittner, Arne; Jellinger, Kurt; Nitsch, Roger M.; Maj, Magdalena; Wagner, Ludwig; Götz, Jürgen; Heikenwalder, Mathias
P301L tau transgenic (tg) mice, which show ...
... allele vs the non-e4 carriers and the e3  homozygous 
Modulating effect of apolipoprotein E polymorphisms on secondary brain insult and outcome after childhood brain trauma
Modulating effect of apolipoprotein E polymorphisms on secondary brain insult and outcome after childhood brain trauma
Lo, T. Y. M.; Jones, P. A.; Chambers, I. R.; Beattie, T. F.; Forsyth, R.; Mendelow, A. D.; Minns, R. A.
vs the non-e3 ...