Works by Beaudet, Arthur L.

Results: 99

Release Factor Translation of RNA Phage Terminator Codons.

Published in:

Nature, 1970, v. 227, n. 5253, p. 38, doi. 10.1038/227038a0

By:

BEAUDET, ARTHUR L.;
CASKEY, C. THOMAS

Publication type:

Article

Production of helper-dependent adenovirus vector relies on helper virus structure and complementing.

Published in:

Journal of Gene Medicine, 2002, v. 4, n. 5, p. 498, doi. 10.1002/jgm.301

By:

Zhou, Heshan Sam;
Zhao, Tiejun;
Rao, X. Mei;
Beaudet, Arthur L.

Publication type:

Article

The MTHFR 677C→T polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations.

Published in:

Autism Research: Official Journal of the International Society for Autism Research, 2009, v. 2, n. 2, p. 98, doi. 10.1002/aur.70

By:

Goin-Kochel, Robin P.;
Porter, Anne E.;
Peters, Sarika U.;
Shinawi, Marwan;
Sahoo, Trilochan;
Beaudet, Arthur L.

Publication type:

Article

Requirement of Nicotinic Acetylcholine Receptor Subunit β2 in the Maintenance of Spiral Ganglion Neurons during Aging.

Published in:

Journal of Neuroscience, 2005, v. 25, n. 12, p. 3041, doi. 10.1523/JNEUROSCI.5277-04.2005

By:

Jianxin Bao;
Lei, Debin;
Yafei Du;
Ohlemiller, Kevin K.;
Beaudet, Arthur L.;
Role, Lorna W.

Publication type:

Article

Derangements of Hippocampal Calcium/Calmodulin-Dependent Protein Kinase II in a Mouse Model for Angelman Mental Retardation Syndrome.

Published in:

Journal of Neuroscience, 2003, v. 23, n. 7, p. 2634, doi. 10.1523/JNEUROSCI.23-07-02634.2003

By:

Weeber, Edwin J.;
Yong-Hui Jiang;
Elgersma, Ype;
Varga, Andrew W.;
Carrasquillo, Yarimar;
Brown, Sarah E.;
Christian, Jill M.;
Mirnikjoo, Banefisheh;
Silva, Alcino;
Beaudet, Arthur L.;
Sweatt, J. David

Publication type:

Article

Creatine metabolism in combined methylmalonic aciduria and homocystinuria.

Published in:

Annals of Neurology, 2005, v. 57, n. 4, p. 557

By:

Olaf A. Bodamer;
Trilochan Sahoo;
Arthur L. Beaudet;
William E. O'Brien;
Teodoro Bottiglieri;
Sylvia Stöckler‐Ipsiroglu;
Conrad Wagner;
Fernando Scaglia

Publication type:

Article

Angelman syndrome: Drugs to awaken a paternal gene.

Published in:

Nature, 2012, v. 481, n. 7380, p. 150, doi. 10.1038/nature10784

By:

Beaudet, Arthur L.

Publication type:

Article

Which way for genetic-test regulation? Leave test interpretation to specialists.

Published in:

2010

By:

Beaudet, Arthur L.

Publication type:

Opinion

Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study.

Published in:

Global Pediatric Health, 2019, v. 6, p. 1, doi. 10.1177/2333794X19830696

By:

Goin-Kochel, Robin P.;
Scaglia, Fernando;
Schaaf, Christian P.;
Berry, Leandra N.;
Dang, Dianne;
Nowel, Kerri P.;
Laakman, Anna L.;
Dowell, Lauren R.;
Minard, Charles G.;
Loh, Alvin;
Beaudet, Arthur L.

Publication type:

Article

Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study.

Published in:

Global Pediatric Health, 2019, v. 6, p. N.PAG, doi. 10.1177/2333794X19830696

By:

Goin-Kochel, Robin P.;
Scaglia, Fernando;
Schaaf, Christian P.;
Berry, Leandra N.;
Dang, Dianne;
Nowel, Kerri P.;
Laakman, Anna L.;
Dowell, Lauren R.;
Minard, Charles G.;
Loh, Alvin;
Beaudet, Arthur L.

Publication type:

Article

Ornithine transcarbamylase deficiency: long-term survival.

Published in:

Clinical Genetics, 1982, v. 22, n. 4, p. 211, doi. 10.1111/j.1399-0004.1982.tb01435.x

By:

Michels, Virginia V.;
Potts, Elaine;
Walser, Mackenzie;
Beaudet, Arthur L.

Publication type:

Article

Glycogen storage disease: long-term follow-up of nocturnal intragastric feeding.

Published in:

Clinical Genetics, 1982, v. 21, n. 2, p. 136, doi. 10.1111/j.1399-0004.1982.tb00750.x

By:

Michels, Virginia V.;
Beaudet, Arthur L.;
Potts, V. Elaine;
Montandon, Corinne M.

Publication type:

Article

Hemorrhagic pancreatitis in a patient with glycogen storage disease type I.

Published in:

Clinical Genetics, 1980, v. 17, n. 3, p. 220, doi. 10.1111/j.1399-0004.1980.tb00136.x

By:

Michels, Virginia V.;
Beaudet, Arthur L.

Publication type:

Article

Detection of Fabry's disease heterozygotes by hair root analysis.

Published in:

Clinical Genetics, 1978, v. 13, n. 3, p. 251, doi. 10.1111/j.1399-0004.1978.tb01178.x

By:

Beaudet, Arthur L.;
Caskey, C. Thomas

Publication type:

Article

Arginase deficiency in multiple tissues in argininemia.

Published in:

Clinical Genetics, 1978, v. 13, n. 1, p. 61, doi. 10.1111/j.1399-0004.1978.tb04128.x

By:

Michels, Virginia V.;
Beaudet, Arthur L.

Publication type:

Article

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.

Published in:

Nature Genetics, 2008, v. 40, n. 6, p. 719, doi. 10.1038/ng.158

By:

Sahoo, Trilochan;
del Gaudio, Daniela;
German, Jennifer R.;
Shinawi, Marwan;
Peters, Sarika U.;
Person, Richard E.;
Garnica, Adolfo;
Cheung, Sau Wai;
Beaudet, Arthur L.

Publication type:

Article

Complex imprinting.

Published in:

Nature Genetics, 2004, v. 36, n. 8, p. 793, doi. 10.1038/ng0804-793

By:

Beaudet, Arthur L.

Publication type:

Article

The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice.

Published in:

Nature Genetics, 2001, v. 28, n. 3, p. 232, doi. 10.1038/90067

By:

Bressler, Jan;
Tsai, Ting-Fen;
Wu, Mei-Yi;
Tsai, Shih-Feng;
Ramirez, Maricela A.;
Armstrong, Dawna;
Beaudet, Arthur L.

Publication type:

Article

Necdin-deficient mice do not show lethality or the obesity and infertility of Prader-Willi syndrome.

Published in:

Nature Genetics, 1999, v. 22, n. 1, p. 15, doi. 10.1038/8722

By:

Tsai, Ting-Fen;
Armstrong, Dawna;
Beaudet, Arthur L.

Publication type:

Article

DNA microarrays.

Published in:

Contemporary OB/GYN, 2007, v. 52, p. 32

By:

Van den Veyner, Ignatia B.;
Simpson, Joe Leigh;
Beaudet, Arthur L.

Publication type:

Article

A suggested nomenclature for designating mutations.

Published in:

Human Mutation, 1993, v. 2, n. 4, p. 245, doi. 10.1002/humu.1380020402

By:

Beaudet, Arthur L.;
Tsui, Lap-Chee

Publication type:

Article

Identification of chromatin remodeling genes Arid4a and Arid4b as leukemia suppressor genes.

Published in:

2008

By:

Wu M;
Eldin KW;
Beaudet AL;
Wu, Mei-Yi;
Eldin, Karen W;
Beaudet, Arthur L

Publication type:

journal article

Identification of Chromatin Remodeling Genes Arid4a and Arid4b as Leukemia Suppressor Genes.

Published in:

JNCI: Journal of the National Cancer Institute, 2008, v. 100, n. 17, p. 1247

By:

Mei-Yi Wu;
Eldin, Karen W.;
Beaudet, Arthur L.

Publication type:

Article

Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis.

Published in:

BioEssays, 2017, v. 39, n. 8, p. n/a, doi. 10.1002/bies.201700012

By:

Beaudet, Arthur L.

Publication type:

Article

Autism: highly heritable but not inherited.

Published in:

Nature Medicine, 2007, v. 13, n. 5, p. 534, doi. 10.1038/nm0507-534

By:

Beaudet, Arthur L.

Publication type:

Article

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

Published in:

Human Mutation, 2010, v. 31, n. 7, p. 840, doi. 10.1002/humu.21284

By:

Szafranski, Przemyslaw;
Schaaf, Christian P.;
Person, Richard E.;
Gibson, Ian B.;
Xia, Zhilian;
Mahadevan, Sangeetha;
Wiszniewska, Joanna;
Bacino, Carlos A.;
Lalani, Seema;
Potocki, Lorraine;
Kang, Sung-Hae;
Patel, Ankita;
Cheung, Sau Wai;
Probst, Frank J.;
Graham, Brett H.;
Shinawi, Marwan;
Beaudet, Arthur L.;
Stankiewicz, Pawel

Publication type:

Article

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.

Published in:

Human Mutation, 2008, v. 29, n. 9, p. 1100, doi. 10.1002/humu.20841

By:

Gaudio, Daniela del;
Yang, Yaping;
Boggs, Barbara A.;
Schmitt, Eric S.;
Lee, Jennifer A.;
Sahoo, Trilochan;
Pham, Hoang T.;
Wiszniewska, Joanna;
Craig Chinault, A.;
Beaudet, Arthur L.;
Eng, Christine M.

Publication type:

Article

Advantages of RT-PCR and denaturing gradient gel electrophoresis for analysis of genomic imprinting: Detection of new mouse and human expressed polymorphisms.

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 144, doi. 10.1002/(SICI)1098-1004(1996)7:2<144::AID-HUMU8>3.0.CO;2-C

By:

Nakao, Mitsuyoshi;
Sutcliffe, James S.;
Beaudet, Arthur L.

Publication type:

Article

Simultaneous analysis of mutant and normal alleles for multiple cystic fibrosis mutations by the ligase chain reaction.

Published in:

Human Mutation, 1995, v. 6, n. 2, p. 144, doi. 10.1002/humu.1380060207

By:

Fang, Ping;
Bouma, Stanley;
Jou, Cynthia;
Gordon, Julian;
Beaudet, Arthur L.

Publication type:

Article

A robotics-assisted procedure for large scale cystic fibrosis mutation analysis.

Published in:

Human Mutation, 1994, v. 4, n. 4, p. 281, doi. 10.1002/humu.1380040409

By:

DeMarchi, Jean M.;
Richards, C. Sue;
Fenwick, Raymond G.;
Pace, Robert;
Beaudet, Arthur L.

Publication type:

Article

Towards a therapy for Angelman syndrome by targeting a long non-coding RNA.

Published in:

Nature, 2015, v. 518, n. 7539, p. 409, doi. 10.1038/nature13975

By:

Meng, Linyan;
Ward, Amanda J.;
Chun, Seung;
Bennett, C. Frank;
Beaudet, Arthur L.;
Rigo, Frank

Publication type:

Article

Leukocyte Migration in Adipose Tissue of Mice Null for ICAM-1 and Mac-1 Adhesion Receptors<sup>**</sup>.

Published in:

Obesity (19307381), 2004, v. 12, n. 6, p. 936, doi. 10.1038/oby.2004.114

By:

Robker, Rebecca L.;
Collins, Robert G.;
Beaudet, Arthur L.;
Mersmann, Harry J.;
Smith, C. Wayne

Publication type:

Article

Mouse imprinting defect mutations that model Angelman syndrome.

Published in:

Genesis: The Journal of Genetics & Development, 2006, v. 44, n. 1, p. 12

By:

Mei‐Yi Wu;
Ken‐Shiung Chen;
Jan Bressler;
Aihua Hou;
Ting‐Fen Tsai;
Arthur L. Beaudet

Publication type:

Article

Disruption of the genomic imprint in trans with homologous recombination at Snrpn in ES cells.

Published in:

Genesis: The Journal of Genetics & Development, 2003, v. 37, n. 4, p. 151, doi. 10.1002/gene.10237

By:

Ting-Fen Tsai;
Jan Bressler;
Yong-hui Jiang;
Arthur L. Beaudet

Publication type:

Article

Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women.

Published in:

2016

By:

Kølvraa, Steen;
Singh, Ripudaman;
Normand, Elizabeth A.;
Qdaisat, Sadeem;
Veyver, Ignatia B.;
Jackson, Laird;
Hatt, Lotte;
Schelde, Palle;
Uldbjerg, Niels;
Vestergaard, Else Marie;
Zhao, Li;
Chen, Rui;
Shaw, Chad A.;
Breman, Amy M.;
Beaudet, Arthur L.

Publication type:

journal article

Detection of ≥1 Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.

Published in:

Prenatal Diagnosis, 2012, v. 32, n. 1, p. 10, doi. 10.1002/pd.2855

By:

Bi, Weimin;
Breman, Amy;
Shaw, Chad A.;
Stankiewicz, Pawel;
Gambin, Tomasz;
Lu, Xinyan;
Cheung, Sau Wai;
Jackson, Laird G.;
Lupski, James R.;
Veyver, Ignatia B. Van;
Beaudet, Arthur L.

Publication type:

Article

Current controversies in prenatal diagnosis 3: for prenatal diagnosis, should we offer less or more than metaphase karyotyping?

Published in:

2009

By:

Ogilvie, Caroline M.;
Yaron, Yuval;
Beaudet, Arthur L.

Publication type:

Other

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.

Published in:

Prenatal Diagnosis, 2009, v. 29, n. 1, p. 29, doi. 10.1002/pd.2127

By:

Van den Veyver, Ignatia B.;
Patel, Ankita;
Shaw, Chad A.;
Pursley, Amber N.;
Kang, Sung-Hae L.;
Simovich, Marcia J.;
Ward, Patricia A.;
Darilek, Sandra;
Johnson, Anthony;
Neill, Sarah E.;
Bi, Weimin;
White, Lisa D.;
Eng, Christine M.;
Lupski, James R.;
Cheung, Sau Wai;
Beaudet, Arthur L.

Publication type:

Article

Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH.

Published in:

Prenatal Diagnosis, 2008, v. 28, n. 10, p. 943, doi. 10.1002/pd.2087

By:

Bi, Weimin;
Breman, Amy M.;
Venable, Susan F.;
Eng, Patricia A.;
Sahoo, Trilochan;
Lu, Xin-Yan;
Patel, Ankita;
Beaudet, Arthur L.;
Cheung, Sau Wai;
White, Lisa D.

Publication type:

Article

Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndrome.

Published in:

eLife, 2023, p. 1, doi. 10.7554/eLife.81892

By:

Dongwon Lee;
Wu Chen;
Kaku, Heet Naresh;
Xinming Zhuo;
Chao, Eugene S.;
Soriano, Armand;
Kuncheria, Allen;
Flores, Stephanie;
Joo Hyun Kim;
Rivera, Armando;
Rigo, Frank;
Jafar-nejad, Paymaan;
Beaudet, Arthur L.;
Caudill, Matthew S.;
Mingshan Xue

Publication type:

Article

Using fetal cells for prenatal diagnosis: History and recent progress.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 123, doi. 10.1002/ajmg.c.31487

By:

Beaudet, Arthur L.

Publication type:

Article

Prenatal diagnosis of citrullinaemia: Review of a 10-year experience including recent use of DNA analysis.

Published in:

Prenatal Diagnosis, 1990, v. 10, n. 12, p. 771, doi. 10.1002/pd.1970101203

By:

Northrup, Hope;
Beaudet, Arthur L.;
O'Brien, William E.

Publication type:

Article

Correction to: The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation.

Published in:

2019

By:

Muñoz-Fuentes, Violeta;
Cacheiro, Pilar;
Meehan, Terrence F.;
Aguilar-Pimentel, Juan Antonio;
Beaudet, Arthur L.;
Brown, Steve D. M.;
Dickinson, Mary E.;
Flenniken, Ann M.;
Flicek, Paul;
Galli, Antonella;
Mashhadi, Hamed Haseli;
Heaney, Jason D.;
Hrabě de Angelis, Martin;
Kim, Jong Kyoung;
Lloyd, K. C. Kent;
McKerlie, Colin;
Morgan, Hugh;
Murray, Stephen A.;
Nutter, Lauryl M. J.;
Reilly, Patrick T.

Publication type:

Correction Notice

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.

Published in:

Nucleic Acids Research, 2017, v. 45, n. 4, p. 1633, doi. 10.1093/nar/gkw1237

By:

Gambin, Tomasz;
Akdemir, Zeynep C.;
Bo Yuan;
Shen Gu;
Chiang, Theodore;
Carvalho, Claudia M. B.;
Shaw, Chad;
Jhangiani, Shalini;
Boone, Philip M.;
Eldomery, Mohammad K.;
Karaca, Ender;
Bayram, Yavuz;
Stray-Pedersen, Asbjørg;
Muzny, Donna;
Wu-Lin Charng;
Bahrambeigi, Vahid;
Belmont, John W.;
Boerwinkle, Eric;
Beaudet, Arthur L.;
Gibbs, Richard A.

Publication type:

Article

Prevalence of sexual dimorphism in mammalian phenotypic traits.

Published in:

Nature Communications, 2017, v. 8, n. 6, p. 15475, doi. 10.1038/ncomms15475

By:

Karp, Natasha A.;
Mason, Jeremy;
Beaudet, Arthur L.;
Benjamini, Yoav;
Bower, Lynette;
Braun, Robert E.;
Brown, Steve D.M.;
Chesler, Elissa J.;
Dickinson, Mary E.;
Flenniken, Ann M.;
Fuchs, Helmut;
Angelis, Martin Hrabe de;
Gao, Xiang;
Guo, Shiying;
Greenaway, Simon;
Heller, Ruth;
Herault, Yann;
Justice, Monica J.;
Kurbatova, Natalja;
Lelliott, Christopher J.

Publication type:

Article

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 1, p. 79, doi. 10.1038/ejhg.2013.77

By:

Wiszniewska, Joanna;
Bi, Weimin;
Shaw, Chad;
Stankiewicz, Pawel;
Kang, Sung-Hae L;
Pursley, Amber N;
Lalani, Seema;
Hixson, Patricia;
Gambin, Tomasz;
Tsai, Chun-hui;
Bock, Hans-Georg;
Descartes, Maria;
Probst, Frank J;
Scaglia, Fernando;
Beaudet, Arthur L;
Lupski, James R;
Eng, Christine;
Wai Cheung, Sau;
Bacino, Carlos;
Patel, Ankita

Publication type:

Article

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 2, p. 173, doi. 10.1038/ejhg.2012.155

By:

Lalani, Seema R;
Shaw, Chad;
Wang, Xueqing;
Patel, Ankita;
Patterson, Lance W;
Kolodziejska, Katarzyna;
Szafranski, Przemyslaw;
Ou, Zhishuo;
Tian, Qi;
Kang, Sung-Hae L;
Jinnah, Amina;
Ali, Sophia;
Malik, Aamir;
Hixson, Patricia;
Potocki, Lorraine;
Lupski, James R;
Stankiewicz, Pawel;
Bacino, Carlos A;
Dawson, Brian;
Beaudet, Arthur L

Publication type:

Article

Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 3, p. 283, doi. 10.1038/ejhg.2011.187

By:

Kim, Soo-Jeong;
Miller, Jennifer L;
Kuipers, Paul J;
German, Jennifer Ruth;
Beaudet, Arthur L;
Sahoo, Trilochan;
Driscoll, Daniel J

Publication type:

Article

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 9, p. 943, doi. 10.1038/sj.ejhg.5201859

By:

Sahoo, Trilochan;
Bacino, Carlos A.;
German, Jennifer R.;
Shaw, Chad A.;
Bird, Lynne M.;
Kimonis, Virginia;
Anselm, Irinia;
Waisbren, Susan;
Beaudet, Arthur L.;
Peters, Sarika U.

Publication type:

Article

Gene-targeting pharmaceuticals for single-gene disorders.

Published in:

Human Molecular Genetics, 2016, v. 25, n. R1, p. R18, doi. 10.1093/hmg/ddv476

By:

Beaudet, Arthur L.;
Linyan Meng

Publication type:

Article