Works matching AU Beaudet, Arthur L.

Results: 99

Functional polymorphisms in the human β4 subunit of nicotinic acetylcholine receptors.

Published in:

Neurogenetics, 2005, v. 6, n. 1, p. 37, doi. 10.1007/s10048-004-0199-7

By:

Yong Liang;
Salas, Ramiro;
Marubio, Lisa;
Bercovich, Dani;
De Biasi, Mariella;
Beaudet, Arthur L.;
Dani, John A.

Publication type:

Article

Noninvasive single‐cell‐based prenatal genetic testing: A proof of concept clinical study.

Published in:

Prenatal Diagnosis, 2024, v. 44, n. 3, p. 304, doi. 10.1002/pd.6529

By:

Bellair, Michelle;
Amaral, Elisabete;
Ouren, Mason;
Roark, Cameron;
Kim, Jaeweon;
O'Connor, April;
Soriano, Adrianna;
Schindler, Margaret L.;
Wapner, Ronald J.;
Stone, Joanne L.;
Tavella, Nicola;
Merriam, Audrey;
Perley, Lauren;
Breman, Amy M.;
Beaudet, Arthur L.

Publication type:

Article

The effect of maternal body mass index and gestational age on circulating trophoblast yield in cell‐based noninvasive prenatal testing.

Published in:

Prenatal Diagnosis, 2020, v. 40, n. 11, p. 1383, doi. 10.1002/pd.5755

By:

Panchalee, Tachjaree;
Vossaert, Liesbeth;
Wang, Qun;
Crovetti, Brielle R.;
McCombs, Anne K.;
Wapner, Ronald J.;
Van den Veyver, Ignatia B.;
Beaudet, Arthur L.

Publication type:

Article

Obituary: Laird Jackson.

Published in:

2020

By:

Wapner, Ronald J.;
Van den Veyver, Ignatia B.;
Beaudet, Arthur L.

Publication type:

Editorial

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

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

The Deep Genome Project.

Published in:

2020

By:

Lloyd, K. C. Kent;
Adams, David J.;
Baynam, Gareth;
Beaudet, Arthur L.;
Bosch, Fatima;
Boycott, Kym M.;
Braun, Robert E.;
Caulfield, Mark;
Cohn, Ronald;
Dickinson, Mary E.;
Dobbie, Michael S.;
Flenniken, Ann M.;
Flicek, Paul;
Galande, Sanjeev;
Gao, Xiang;
Grobler, Anne;
Heaney, Jason D.;
Herault, Yann;
de Angelis, Martin Hrabě;
Lupski, James R.

Publication type:

Editorial

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

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

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

Reaching a CNV milestone.

Published in:

Nature Genetics, 2014, v. 46, n. 10, p. 1046, doi. 10.1038/ng.3106

By:

Beaudet, Arthur L

Publication type:

Article

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.

Published in:

Nature Genetics, 2013, v. 45, n. 11, p. 1405, doi. 10.1038/ng.2776

By:

Schaaf, Christian P;
Gonzalez-Garay, Manuel L;
Xia, Fan;
Potocki, Lorraine;
Gripp, Karen W;
Zhang, Baili;
Peters, Brock A;
McElwain, Mark A;
Drmanac, Radoje;
Beaudet, Arthur L;
Caskey, C Thomas;
Yang, Yaping

Publication type:

Article

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.

Published in:

Nature Genetics, 2009, v. 41, n. 12, p. 1269, doi. 10.1038/ng.481

By:

Shinawi, Marwan;
Schaaf, Christian P.;
Bhatt, Samarth S.;
Zhilian Xia;
Patel, Ankita;
Sau Wai Cheung;
Lanpher, Brendan;
Nagl, Sandra;
Herding, Heinrich Stephan;
Nevinny-Stickel, Claudia;
Immken, LaDonna L.;
Patel, Gayle Simpson;
German, Jennifer Ruth;
Beaudet, Arthur L.;
Stankiewicz, Pawel

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

Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region.

Published in:

BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-50

By:

Yong-hui Jiang;
Wauki, Kekio;
Qian Liu;
Bressler, Jan;
Yanzhen Pan;
Kashork, Catherine D.;
Shaffer, Lisa G.;
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. 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

An Unexpected Function of the Prader-Willi Syndrome Imprinting Center in Maternal Imprinting in Mice.

Published in:

PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0034348

By:

Wu, Mei-Yi;
Jiang, Ming;
Zhai, Xiaodong;
Beaudet, Arthur L.;
Wu, Ray-Chang

Publication type:

Article

Altered Ultrasonic Vocalization and Impaired Learning and Memory in Angelman Syndrome Mouse Model with a Large Maternal Deletion from Ube3a to Gabrb3.

Published in:

PLoS ONE, 2010, v. 5, n. 8, p. 1, doi. 10.1371/journal.pone.0012278

By:

Yong-hui Jiang;
Yanzhen Pan;
Li Zhu;
Landa, Luis;
Jong Yoo;
Spencer, Corinne;
Lorenzo, Isabel;
Brilliant, Murray;
Noebels, Jeffrey;
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

Spinocerebellar ataxia: Variable age of onset and linkage to human leukocyte antigen in a large kindred.

Published in:

Annals of Neurology, 1988, v. 23, n. 6, p. 580, doi. 10.1002/ana.410230609

By:

Zoghbi, Huda Y.;
Pollack, Marilyn S.;
Lyons, Leslie A.;
Ferrell, Robert E.;
Daiger, Stephen P.;
Beaudet, Arthur L.

Publication type:

Article

Atypical presentation and neuropathological studies in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Published in:

Annals of Neurology, 1986, v. 20, n. 3, p. 367, doi. 10.1002/ana.410200318

By:

Zoghbi, Huda Y.;
Spence, J. Edward;
Beaudet, Arthur L.;
O'Brien, William E.;
Goodman, Clay J.;
Gibson, Kenneth M.

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

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

Corrigendum to 'Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation'.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2496, doi. 10.1002/ajmg.a.37192

By:

Ziats, Mark N.;
Comeaux, Matthew S.;
Yang, Yaping;
Scaglia, Fernando;
Elsea, Sarah H.;
Sun, Qin;
Beaudet, Arthur L.;
Schaaf, Christian P.

Publication type:

Article

Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2162, doi. 10.1002/ajmg.a.37144

By:

Ziats, Mark N.;
Comeaux, Mathew S.;
Yang, Yaping;
Scaglia, Fernando;
Elsea, Sarah H.;
Sun, Qin;
Beaudet, Arthur L.;
Schaaf, Christian P.

Publication type:

Article

Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2602, doi. 10.1002/ajmg.a.35566

By:

Schroer, Richard J.;
Beaudet, Arthur L.;
Shinawi, Marwan;
Sahoo, Trilochan;
Patel, Ankita;
Sun, Qin;
Skinner, Cindy;
Stevenson, Roger E.

Publication type:

Article

Aneuploidy as a mechanism for stress-induced liver adaptation.

Published in:

Journal of Clinical Investigation, 2012, v. 122, n. 9, p. 3307, doi. 10.1172/JCI64026

By:

Duncan, Andrew W.;
Newell, Amy E. Hanlon;
Bi, Weimin;
Finegold, Milton J.;
Olson, Susan B.;
Beaudet, Arthur L.;
Grompe, Markus

Publication type:

Article

E-selectin ligand-1 regulates growth plate homeostasis in mice by inhibiting the intracellular processing and secretion of mature TGF-beta.

Published in:

2010

By:

Tao Yang;
Mendoza-Londono, Roberto;
Huifang Lu;
Jianning Tao;
Kaiyi Li;
Keller, Bettina;
Ming Ming Jiang;
Shah, Rina;
Yuqing Chen;
Bertin, Terry K.;
Engin, Feyza;
Dabovic, Branka;
Rifkin, Daniel B.;
Hicks, John;
Jamrich, Milan;
Beaudet, Arthur L.;
Lee, Brendan;
Yang, Tao;
Lu, Huifang;
Tao, Jianning

Publication type:

journal article

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

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

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

The spectrum of mutations in UBE3A causing Angelman syndrome.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 1, p. 129, doi. 10.1093/hmg/8.1.129

By:

Fang, Ping;
Lev-Lehman, Efrat;
Tsai, Ting-Fen;
Matsuura, Toshinobu;
Benton, Claudia S.;
Sutcliffe, James S.;
Christian, Susan L.;
Kubota, Takeo;
Halley, Dicky J.;
Meijers-Heijboer, Hanne;
Langlois, Sylvie;
Graham Jr, John M.;
Beuten, Joke;
Willems, Patrick J.;
Ledbetter, David H.;
Beaudet, Arthur L.

Publication type:

Article

X-Linked Glycerol Kinase Deficiency in the Mouse Leads to Growth Retardation, Altered Fat Metabolism, Autonomous Glucocorticoid Secretion and Neonatal Death.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1803, doi. 10.1093/hmg/6.11.1803

By:

Mahbubul Huq, A. H. M.;
Lovell, Rhonda S.;
Ou, Ching-Nan;
Beaudet, Arthur L.;
Craigen, William J.

Publication type:

Article

Imprinting analysis of three genes in the Prader — Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).

Published in:

Human Molecular Genetics, 1994, v. 3, n. 2, p. 309

By:

Nakao, Mltsuyoshl;
Sutcliffe, James S.;
Durtschl, Becky;
Mutlrangura, Aplwat;
Ledbetter, David H.;
Beaudet, Arthur L.

Publication type:

Article

A severe phenotype in mice with a duplication of exon 3 in the cystic fibrosis locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 10, p. 1561

By:

O'Neal, Wanda K.;
Hasty, Paul;
McCray, Paul B.;
Casey, Brett;
RiveraPérez, Jalme;
Welsh, Michael J.;
Beaudet, Arthur L.;
Bradley, Allan

Publication type:

Article

Retroviral mediated expression of CD18 in normal and deficient human bone marrow progenitor cells.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 9, p. 1443

By:

Yorlfujl, Tohru;
W.Wilson, Raymond;
Beaudet, Arthur L.

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

The NIH Roadmap Epigenomics Mapping Consortium.

Published in:

Nature Biotechnology, 2010, v. 28, n. 10, p. 1045, doi. 10.1038/nbt1010-1045

By:

Bernstein, Bradley E.;
Stamatoyannopoulos, John A.;
Costello, Joseph F.;
Ren, Bing;
Milosavljevic, Aleksandar;
Meissner, Alexander;
Kellis, Manolis;
Marra, Marco A.;
Beaudet, Arthur L.;
Ecker, Joseph R.;
Farnham, Peggy J.;
Hirst, Martin;
Lander, Eric S.;
Mikkelsen, Tarjei S.;
Thomson, James A.

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

Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 13, p. 3001, doi. 10.1093/hmg/dds130

By:

Meng, Linyan;
Person, Richard E.;
Beaudet, Arthur L.

Publication type:

Article

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 22, p. 4360, doi. 10.1093/hmg/ddr363

By:

Celestino-Soper, Patricia B.S.;
Shaw, Chad A.;
Sanders, Stephan J.;
Li, Jian;
Murtha, Michael T.;
Ercan-Sencicek, A. Gulhan;
Davis, Lea;
Thomson, Susanne;
Gambin, Tomasz;
Chinault, A. Craig;
Ou, Zhishuo;
German, Jennifer R.;
Milosavljevic, Aleksandar;
Sutcliffe, James S.;
Cook, Edwin H.;
Stankiewicz, Pawel;
State, Matthew W.;
Beaudet, Arthur L.

Publication type:

Article