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Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome.
Published in:
EMBO Molecular Medicine, 2014, v. 6, n. 8, p. 1003, doi. 10.15252/emmm.201404044
By:
- Camarena, Vladimir;
- Cao, Lei;
- Abad, Clemer;
- Abrams, Alexander;
- Toledo, Yaima;
- Araki, Kimi;
- Araki, Masatake;
- Walz, Katherina;
- Young, Juan I
Publication type:
Article
SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 9, p. 3131, doi. 10.1093/brain/awae079
By:
- Rebelo, Adriana P;
- Abad, Clemer;
- Dohrn, Maike F;
- Li, Jian J;
- Tieu, Ethan K;
- Medina, Jessica;
- Yanick, Christopher;
- Huang, Jingyu;
- Zotter, Brendan;
- Young, Juan I;
- Saporta, Mario;
- Scherer, Steven S;
- Walz, Katherina;
- Zuchner, Stephan
Publication type:
Article
Gatad2b, associated with the neurodevelopmental syndrome GAND, plays a critical role in neurodevelopment and cortical patterning.
Published in:
Translational Psychiatry, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41398-023-02678-x
By:
- Abad, Clemer;
- Robayo, Maria C.;
- Muñiz-Moreno, Maria del Mar;
- Bernardi, Maria T.;
- Otero, Maria G.;
- Kosanovic, Christina;
- Griswold, Anthony J.;
- Pierson, Tyler Mark;
- Walz, Katherina;
- Young, Juan I.
Publication type:
Article
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.
Published in:
Human Genetics, 2018, v. 137, n. 6/7, p. 479, doi. 10.1007/s00439-018-1901-4
By:
- Bademci, Guney;
- Abad, Clemer;
- Incesulu, Armagan;
- Rad, Abolfazl;
- Alper, Ozgul;
- Kolb, Susanne M.;
- Cengiz, Filiz B.;
- Diaz-Horta, Oscar;
- Silan, Fatma;
- Mihci, Ercan;
- Ocak, Emre;
- Najafi, Maryam;
- Maroofian, Reza;
- Yilmaz, Elanur;
- Nur, Banu G.;
- Duman, Duygu;
- Guo, Shengru;
- Sant, David W.;
- Wang, Gaofeng;
- Monje, Paula V.
Publication type:
Article
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.
Published in:
Human Genetics, 2015, v. 134, n. 2, p. 181, doi. 10.1007/s00439-014-1509-2
By:
- Walz, Katherina;
- Brancati, Francesco;
- Cohen, Devon;
- Foster, Joseph;
- Abad, Clemer;
- Lei, Cao;
- Zhang, Lily;
- Diaz-Horta, Oscar;
- Young, Juan;
- Tekin, Mustafa;
- Neilsen, Paul;
- Callen, David;
- Demir, Korcan;
- Fisher, Richard;
- Moffat, Michelle;
- Verbeek, Nienke;
- Bjørgo, Kathrine;
- Lo Castro, Adriana;
- Curatolo, Paolo;
- Novelli, Giuseppe
Publication type:
Article
Fatal septicemia in 2 South American camelids with caudal C3-pyloric-duodenal adenocarcinoma.
Published in:
2024
By:
- Abad, Clemer;
- Fritz, Heather;
- Gonzales-Viera, Omar
Publication type:
Case Study
Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development.
Published in:
2020
By:
- Bademci, Guney;
- Abad, Clemer;
- Cengiz, Filiz B.;
- Seyhan, Serhat;
- Incesulu, Armagan;
- Guo, Shengru;
- Fitoz, Suat;
- Atli, Emine Ikbal;
- Gosstola, Nicholas C.;
- Demir, Selma;
- Colbert, Brett M.;
- Seyhan, Gozde Cosar;
- Sineni, Claire J.;
- Duman, Duygu;
- Gurkan, Hakan;
- Morton, Cynthia C.;
- Dykxhoorn, Derek M.;
- Walz, Katherina;
- Tekin, Mustafa
Publication type:
journal article
A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.
Published in:
Biology (2079-7737), 2018, v. 7, n. 2, p. 31, doi. 10.3390/biology7020031
By:
- Abad, Clemer;
- Cook, Melissa M.;
- Cao, Lei;
- Jones, Julie R.;
- Rao, Nalini R.;
- Dukes-Rimsky, Lynn;
- Pauly, Rini;
- Skinner, Cindy;
- Wang, Yunsheng;
- Luo, Feng;
- Stevenson, Roger E.;
- Walz, Katherina;
- Srivastava, Anand K.
Publication type:
Article
Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice.
Published in:
Biology (2079-7737), 2017, v. 6, n. 2, p. 25, doi. 10.3390/biology6020025
By:
- Rao, Nalini R.;
- Abad, Clemer;
- Perez, Irene C.;
- Srivastava, Anand K.;
- Young, Juan I.;
- Walz, Katherina
Publication type:
Article
Generation and characterization of a P2rx2 V60L mouse model for DFNA41.
Published in:
Human Molecular Genetics, 2021, v. 30, n. 11, p. 985, doi. 10.1093/hmg/ddab077
By:
- Chen, Xiaoya;
- Abad, Clemer;
- Chen, Zheng-yi;
- Young, Juan I;
- Gurumurthy, Channabasavaiah B;
- Walz, Katherina;
- Liu, Xue Zhong
Publication type:
Article
FOXF2 is required for cochlear development in humans and mice.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 8, p. 1286, doi. 10.1093/hmg/ddy431
By:
- Bademci, Guney;
- Abad, Clemer;
- Incesulu, Armagan;
- Elian, Fahed;
- Reyahi, Azadeh;
- Diaz-Horta, Oscar;
- Cengiz, Filiz B;
- Sineni, Claire J;
- Seyhan, Serhat;
- Atli, Emine Ikbal;
- Basmak, Hikmet;
- Demir, Selma;
- Nik, Ali Moussavi;
- Footz, Tim;
- Guo, Shengru;
- Duman, Duygu;
- Fitoz, Suat;
- Gurkan, Hakan;
- Blanton, Susan H;
- Walter, Michael A
Publication type:
Article
Correct developmental expression level of Rai1 in forebrain neurons is required for control of body weight, activity levels and learning and memory.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 7, p. 1771, doi. 10.1093/hmg/ddt568
By:
- Cao, Lei;
- Molina, Jessica;
- Abad, Clemer;
- Carmona-Mora, Paulina;
- Cárdenas Oyarzo, Areli;
- Young, Juan I.;
- Walz, Katherina
Publication type:
Article
Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation.
Published in:
Journal of Molecular Medicine, 2018, v. 96, n. 11, p. 1227, doi. 10.1007/s00109-018-1694-x
By:
- Diaz-Horta, Oscar;
- Abad, Clemer;
- Cengiz, Filiz Basak;
- Bademci, Guney;
- Blackwelder, Pat;
- Walz, Katherina;
- Tekin, Mustafa
Publication type:
Article
Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons.
Published in:
Molecular Autism, 2020, v. 11, n. 1, p. 1, doi. 10.1186/s13229-020-00354-1
By:
- Seabra, Catarina M.;
- Aneichyk, Tatsiana;
- Erdin, Serkan;
- Tai, Derek J. C.;
- De Esch, Celine E. F.;
- Razaz, Parisa;
- An, Yu;
- Manavalan, Poornima;
- Ragavendran, Ashok;
- Stortchevoi, Alexei;
- Abad, Clemer;
- Young, Juan I.;
- Maciel, Patricia;
- Talkowski, Michael E.;
- Gusella, James F.
Publication type:
Article

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