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Arthur Beaudet

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Physiology

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Chromosomes, Human, Pair 15

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Chromosome Mapping

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Publications

TOP 3
Dindot Scott V; Person Richard; Strivens Mark; Garcia Rejinaldo; Beaudet Arthur L
Epigenetic profiling at mouse imprinted gene clusters reveals novel epigenetic and genetic features at differentially methylated regions.
Ben-Shachar S; Lanpher B; German J R; Qasaymeh M; Potocki L; Nagamani S C Sreenath; Franco L M; Malphrus A; Bottenfield G W; Spence J E; Amato S; Rousseau J A; Moghaddam B; Skinner C; Skinner S A; Bernes S; Armstrong N; Shinawi M; Stankiewicz P; Patel A; Cheung S-W; Lupski J R; Beaudet A L; Sahoo T
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
Yatsenko Svetlana A; Shaw Chad A; Ou Zhishuo; Pursley Amber N; Patel Ankita; Bi Weimin; Cheung Sau Wai; Lupski James R; Chinault A Craig; Beaudet Arthur L
Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA.

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All Publications

2009: Dindot Scott V; Person Richard; Strivens Mark; Garcia Rejinaldo; Beaudet Arthur L
Epigenetic profiling at mouse imprinted gene clusters reveals novel epigenetic and genetic features at differentially methylated regions.
Genome research 2009;19(8):1374-83.
2009: Ben-Shachar S; Lanpher B; German J R; Qasaymeh M; Potocki L; Nagamani S C Sreenath; Franco L M; Malphrus A; Bottenfield G W; Spence J E; Amato S; Rousseau J A; Moghaddam B; Skinner C; Skinner S A; Bernes S; Armstrong N; Shinawi M; Stankiewicz P; Patel A; Cheung S-W; Lupski J R; Beaudet A L; Sahoo T
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
Journal of medical genetics 2009;46(6):382-8.
2009: Yatsenko Svetlana A; Shaw Chad A; Ou Zhishuo; Pursley Amber N; Patel Ankita; Bi Weimin; Cheung Sau Wai; Lupski James R; Chinault A Craig; Beaudet Arthur L
Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA.
The Journal of molecular diagnostics : JMD 2009;11(3):226-37.
2009: Goin-Kochel Robin P; Porter Anne E; Peters Sarika U; Shinawi Marwan; Sahoo Trilochan; Beaudet Arthur L
The MTHFR 677C-->T polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations.
Autism research : official journal of the International Society for Autism Research 2009;2(2):98-108.
2009: Bi Weimin; Sapir Tamar; Shchelochkov Oleg A; Zhang Feng; Withers Marjorie A; Hunter Jill V; Levy Talia; Shinder Vera; Peiffer Daniel A; Gunderson Kevin L; Nezarati Marjan M; Shotts Vern Ann; Amato Stephen S; Savage Sarah K; Harris David J; Day-Salvatore Debra-Lynn; Horner Michele; Lu Xin-Yan; Sahoo Trilochan; Yanagawa Yuchio; Beaudet Arthur L; Cheung Sau Wai; Martinez Salvador; Lupski James R; Reiner Orly
Increased LIS1 expression affects human and mouse brain development.
Nature genetics 2009;41(2):168-77.
2009: Brunetti-Pierri Nicola; Stapleton Gary E; Law Mark; Breinholt John; Palmer Donna J; Zuo Yu; Grove Nathan C; Finegold Milton J; Rice Karen; Beaudet Arthur L; Mullins Charles E; Ng Philip
Efficient, long-term hepatic gene transfer using clinically relevant HDAd doses by balloon occlusion catheter delivery in nonhuman primates.
Molecular therapy : the journal of the American Society of Gene Therapy 2009;17(2):327-33.
2009: 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
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.
Prenatal diagnosis 2009;29(1):29-39.
2008: Lu Xin-Yan; Phung Mai T; Shaw Chad A; Pham Kim; Neil Sarah E; Patel Ankita; Sahoo Trilochan; Bacino Carlos A; Stankiewicz Pawel; Kang Sung-Hae Lee; Lalani Seema; Chinault A Craig; Lupski James R; Cheung Sau W; Beaudet Arthur L
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.
Pediatrics 2008;122(6):1310-8.
2008: 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
Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH.
Prenatal diagnosis 2008;28(10):943-9.
2008: del Gaudio Daniela; Yang Yaping; Boggs Barbara A; Schmitt Eric S; Lee Jennifer A; Sahoo Trilochan; Pham Hoang T; Wiszniewska Joanna; Chinault A Craig; Beaudet Arthur L; Eng Christine M
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.
Human mutation 2008;29(9):1100-7.
2008: Wu Mei-Yi; Eldin Karen W; Beaudet Arthur L
Identification of chromatin remodeling genes Arid4a and Arid4b as leukemia suppressor genes.
Journal of the National Cancer Institute 2008;100(17):1247-59.
2008: Shao Lina; Shaw Chad A; Lu Xin-Yan; Sahoo Trilochan; Bacino Carlos A; Lalani Seema R; Stankiewicz Pawel; Yatsenko Svetlana A; Li Yinfeng; Neill Sarah; Pursley Amber N; Chinault A Craig; Patel Ankita; Beaudet Arthur L; Lupski James R; Cheung Sau W
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.
American journal of medical genetics. Part A 2008;146A(17):2242-51.
2008: Sahoo Trilochan; del Gaudio Daniela; German Jennifer R; Shinawi Marwan; Peters Sarika U; Person Richard E; Garnica Adolfo; Cheung Sau Wai; Beaudet Arthur L
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.
Nature genetics 2008;40(6):719-21.
2008: Beaudet Arthur L
Allan Award lecture: Rare patients leading to epigenetics and back to genetics.
American journal of human genetics 2008;82(5):1034-8.
2008: Ou Zhishuo; Kang Sung-Hae L; Shaw Chad A; Carmack Condie E; White Lisa D; Patel Ankita; Beaudet Arthur L; Cheung Sau Wai; Chinault A Craig
Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(4):278-89.
2008: Beaudet Arthur L
Epigenetics and complex human disease: is there a role in IBD?
Journal of pediatric gastroenterology and nutrition 2008;46 Suppl 1():E2.
2008: Jiang Yong-Hui; Wauki Kekio; Liu Qian; Bressler Jan; Pan Yanzhen; Kashork Catherine D; Shaffer Lisa G; Beaudet Arthur L
Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region.
BMC genomics 2008;9():50.
2008: Beaudet Arthur L; Belmont John W
Array-based DNA diagnostics: let the revolution begin.
Annual review of medicine 2008;59():113-29.
2007: 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
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.
European journal of human genetics : EJHG 2007;15(9):943-9.
2007: Cheung Sau W; Shaw Chad A; Scott Daryl A; Patel Ankita; Sahoo Trilochan; Bacino Carlos A; Pursley Amber; Li Jiangzhen; Erickson Robert; Gropman Andrea L; Miller David T; Seashore Margretta R; Summers Anne M; Stankiewicz Pawel; Chinault A Craig; Lupski James R; Beaudet Arthur L; Sutton V Reid
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics.
American journal of medical genetics. Part A 2007;143A(15):1679-86.
2007: Berg Jonathan S; Brunetti-Pierri Nicola; Peters Sarika U; Kang Sung-Hae L; Fong Chin-to; Salamone Jessica; Freedenberg Debra; Hannig Vickie L; Prock Lisa Albers; Miller David T; Raffalli Peter; Harris David J; Erickson Robert P; Cunniff Christopher; Clark Gary D; Blazo Maria A; Peiffer Daniel A; Gunderson Kevin L; Sahoo Trilochan; Patel Ankita; Lupski James R; Beaudet Arthur L; Cheung Sau Wai
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(7):427-41.
2007: Stankiewicz Pawel; Beaudet Arthur L
Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation.
Current opinion in genetics & development 2007;17(3):182-92.
2007: Brunetti-Pierri Nicola; Stapleton Gary E; Palmer Donna J; Zuo Yu; Mane Viraj P; Finegold Milton J; Beaudet Arthur L; Leland Michelle M; Mullins Charles E; Ng Philip
Pseudo-hydrodynamic delivery of helper-dependent adenoviral vectors into non-human primates for liver-directed gene therapy.
Molecular therapy : the journal of the American Society of Gene Therapy 2007;15(4):732-40.
2007: Bullard Daniel C; Hu Xianzhen; Schoeb Trenton R; Collins Robert G; Beaudet Arthur L; Barnum Scott R
Intercellular adhesion molecule-1 expression is required on multiple cell types for the development of experimental autoimmune encephalomyelitis.
Journal of immunology (Baltimore, Md. : 1950) 2007;178(2):851-7.
2007: Lu Xinyan; Shaw Chad A; Patel Ankita; Li Jiangzhen; Cooper M Lance; Wells William R; Sullivan Cathy M; Sahoo Trilochan; Yatsenko Svetlana A; Bacino Carlos A; Stankiewicz Pawel; Ou Zhishu; Chinault A Craig; Beaudet Arthur L; Lupski James R; Cheung Sau W; Ward Patricia A
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.
PloS one 2007;2(3):e327.
2006: del Gaudio Daniela; Fang Ping; Scaglia Fernando; Ward Patricia A; Craigen William J; Glaze Daniel G; Neul Jeffrey L; Patel Ankita; Lee Jennifer A; Irons Mira; Berry Susan A; Pursley Amber A; Grebe Theresa A; Freedenberg Debra; Martin Rick A; Hsich Gary E; Khera Jena R; Friedman Neil R; Zoghbi Huda Y; Eng Christine M; Lupski James R; Beaudet Arthur L; Cheung Sau Wai; Roa Benjamin B
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(12):784-92.
2006: Sahoo Trilochan; Cheung Sau Wai; Ward Patricia; Darilek Sandra; Patel Ankita; del Gaudio Daniela; Kang Sung Hae L; Lalani Seema R; Li Jiangzhen; McAdoo Sallie; Burke Audrey; Shaw Chad A; Stankiewicz Pawel; Chinault A Craig; Van den Veyver Ignatia B; Roa Benjamin B; Beaudet Arthur L; Eng Christine M
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(11):719-27.
2006: Wu Mei-Yi; Tsai Ting-Fen; Beaudet Arthur L
Deficiency of Rbbp1/Arid4a and Rbbp1l1/Arid4b alters epigenetic modifications and suppresses an imprinting defect in the PWS/AS domain.
Genes & development 2006;20(20):2859-70.
2006: Miller Jennifer; Kranzler John; Liu Yijun; Schmalfuss Ilona; Theriaque Douglas W; Shuster Jonathan J; Hatfield Ann; Mueller O Thomas; Goldstone Anthony P; Sahoo Trilochan; Beaudet Arthur L; Driscoll Daniel J
Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity.
The Journal of pediatrics 2006;149(2):192-8.
2006: Sahoo T; Peters S U; Madduri N S; Glaze D G; German J R; Bird L M; Barbieri-Welge R; Bichell T J; Beaudet A L; Bacino C A
Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations.
Journal of medical genetics 2006;43(6):512-6.
2006: Brunetti-Pierri Nicola; Ng Thomas; Iannitti David A; Palmer Donna J; Beaudet Arthur L; Finegold Milton J; Carey K Dee; Cioffi William G; Ng Philip
Improved hepatic transduction, reduced systemic vector dissemination, and long-term transgene expression by delivering helper-dependent adenoviral vectors into the surgically isolated liver of nonhuman primates.
Human gene therapy 2006;17(4):391-404.
2006: Van den Veyver Ignatia B; Beaudet Arthur L
Comparative genomic hybridization and prenatal diagnosis.
Current opinion in obstetrics & gynecology 2006;18(2):185-91.
2006: Williams Charles A; Beaudet Arthur L; Clayton-Smith Jill; Knoll Joan H; Kyllerman Martin; Laan Laura A; Magenis R Ellen; Moncla Ann; Schinzel Albert A; Summers Jane A; Wagstaff Joseph
Angelman syndrome 2005: updated consensus for diagnostic criteria.
American journal of medical genetics. Part A 2006;140(5):413-8.
2006: Wu Mei-Yi; Chen Ken-Shiung; Bressler Jan; Hou Aihua; Tsai Ting-Fen; Beaudet Arthur L
Mouse imprinting defect mutations that model Angelman syndrome.
Genesis (New York, N.Y. : 2000) 2006;44(1):12-22.
2005: Sahoo Trilochan; Shaw Chad A; Young Andrew S; Whitehouse Nathan L; Schroer Richard J; Stevenson Roger E; Beaudet Arthur L
Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements.
American journal of medical genetics. Part A 2005;139A(2):106-13.
2005: Cheung Sau W; Shaw Chad A; Yu Wei; Li Jiangzham; Ou Zhishuo; Patel Ankita; Yatsenko Svetlana A; Cooper Mitchell L; Furman Patti; Stankiewicz Pawel; Lupski James R; Chinault A Craig; Beaudet Arthur L
Development and validation of a CGH microarray for clinical cytogenetic diagnosis.
Genetics in medicine : official journal of the American College of Medical Genetics 2005;7(6):422-32.
2005: Brunetti-Pierri Nicola; Nichols Timothy C; McCorquodale Stephanie; Merricks Elizabeth; Palmer Donna J; Beaudet Arthur L; Ng Philip
Sustained phenotypic correction of canine hemophilia B after systemic administration of helper-dependent adenoviral vector.
Human gene therapy 2005;16(7):811-20.
2005: Brunetti-Pierri Nicola; Palmer Donna J; Mane Viraj; Finegold Milton; Beaudet Arthur L; Ng Philip
Increased hepatic transduction with reduced systemic dissemination and proinflammatory cytokines following hydrodynamic injection of helper-dependent adenoviral vectors.
Molecular therapy : the journal of the American Society of Gene Therapy 2005;12(1):99-106.
2005: Bodamer Olaf A; Sahoo Trilochan; Beaudet Arthur L; O'Brien William E; Bottiglieri Teodoro; Stöckler-Ipsiroglu Sylvia; Wagner Conrad; Scaglia Fernando
Creatine metabolism in combined methylmalonic aciduria and homocystinuria.
Annals of neurology 2005;57(4):557-60.
2005: Toietta Gabriele; Mane Viraj P; Norona Wilma S; Finegold Milton J; Ng Philip; McDonagh Antony F; Beaudet Arthur L; Lee Brendan
Lifelong elimination of hyperbilirubinemia in the Gunn rat with a single injection of helper-dependent adenoviral vector.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(11):3930-5.
2005: Liang Yong; Salas Ramiro; Marubio Lisa; Bercovich Dani; De Biasi Mariella; Beaudet Arthur L; Dani John A
Functional polymorphisms in the human beta4 subunit of nicotinic acetylcholine receptors.
Neurogenetics 2005;6(1):37-44.
2004: Peters S U; Beaudet A L; Madduri N; Bacino C A
Autism in Angelman syndrome: implications for autism research.
Clinical genetics 2004;66(6):530-6.
2004: Jiang Yong-Hui; Sahoo Trilochan; Michaelis Ron C; Bercovich Dani; Bressler Jan; Kashork Catherine D; Liu Qian; Shaffer Lisa G; Schroer Richard J; Stockton David W; Spielman Richard S; Stevenson Roger E; Beaudet Arthur L
A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A.
American journal of medical genetics. Part A 2004;131(1):1-10.
2004: Mian Asad; McCormack W Michael; Mane Viraj; Kleppe Soledad; Ng Philip; Finegold Milton; O'Brien William E; Rodgers John R; Beaudet Arthur L; Lee Brendan
Long-term correction of ornithine transcarbamylase deficiency by WPRE-mediated overexpression using a helper-dependent adenovirus.
Molecular therapy : the journal of the American Society of Gene Therapy 2004;10(3):492-9.
2004: Jiang Yong-hui; Beaudet Arthur L
Human disorders of ubiquitination and proteasomal degradation.
Current opinion in pediatrics 2004;16(4):419-26.
2004: Peters Sarika U; Goddard-Finegold Jan; Beaudet Arthur L; Madduri Niru; Turcich Marie; Bacino Carlos A
Cognitive and adaptive behavior profiles of children with Angelman syndrome.
American journal of medical genetics. Part A 2004;128A(2):110-3.
2004: Robker Rebecca L; Collins Robert G; Beaudet Arthur L; Mersmann Harry J; Smith C Wayne
Leukocyte migration in adipose tissue of mice null for ICAM-1 and Mac-1 adhesion receptors.
Obesity research 2004;12(6):936-40.
2004: Pastore Lucio; Belalcazar L Maria; Oka Kazuhiro; Cela Racel; Lee Brendan; Chan Lawrence; Beaudet Arthur L
Helper-dependent adenoviral vector-mediated long-term expression of human apolipoprotein A-I reduces atherosclerosis in apo E-deficient mice.
Gene 2004;327(2):153-60.
2004: Shaw C J; Shaw C A; Yu W; Stankiewicz P; White L D; Beaudet A L; Lupski J R
Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.
Journal of medical genetics 2004;41(2):113-9.
2004: Brunetti-Pierri Nicola; Palmer Donna J; Beaudet Arthur L; Carey K Dee; Finegold Milton; Ng Philip
Acute toxicity after high-dose systemic injection of helper-dependent adenoviral vectors into nonhuman primates.
Human gene therapy 2004;15(1):35-46.
2004: Jiang Yong-Hui; Bressler Jan; Beaudet Arthur L
Epigenetics and human disease.
Annual review of genomics and human genetics 2004;5():479-510.
2003: Tsai Ting-Fen; Bressler Jan; Jiang Yong-Hui; Beaudet Arthur L
Disruption of the genomic imprint in trans with homologous recombination at Snrpn in ES cells.
Genesis (New York, N.Y. : 2000) 2003;37(4):151-61.
2003: Dunne Jessica L; Collins Robert G; Beaudet Arthur L; Ballantyne Christie M; Ley Klaus
Mac-1, but not LFA-1, uses intercellular adhesion molecule-1 to mediate slow leukocyte rolling in TNF-alpha-induced inflammation.
Journal of immunology (Baltimore, Md. : 1950) 2003;171(11):6105-11.
2003: Lee Seung-Hyo; Prince Joseph E; Rais Muhammad; Kheradmand Farrah; Shardonofsky Felix; Lu Huifang; Beaudet Arthur L; Smith C Wayne; Soong Lynn; Corry David B
Differential requirement for CD18 in T-helper effector homing.
Nature medicine 2003;9(10):1281-6.
2003: Yu Wei; Ballif Blake C; Kashork Catherine D; Heilstedt Heidi A; Howard Leslie A; Cai Wei-Wen; White Lisa D; Liu Wenbin; Beaudet Arthur L; Bejjani Bassem A; Shaw Chad A; Shaffer Lisa G
Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.
Human molecular genetics 2003;12(17):2145-52.
2003: Toietta Gabriele; Koehler David R; Finegold Milton J; Lee Brendan; Hu Jim; Beaudet Arthur L
Reduced inflammation and improved airway expression using helper-dependent adenoviral vectors with a K18 promoter.
Molecular therapy : the journal of the American Society of Gene Therapy 2003;7(5 Pt 1):649-58.
2003: Weeber Edwin J; Jiang Yong-Hui; Elgersma Ype; Varga Andrew W; Carrasquillo Yarimar; Brown Sarah E; Christian Jill M; Mirnikjoo Banefsheh; Silva Alcino; Beaudet Arthur L; Sweatt J David
Derangements of hippocampal calcium/calmodulin-dependent protein kinase II in a mouse model for Angelman mental retardation syndrome.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2003;23(7):2634-44.
2003: Bercovich D; Beaudet A L
Denaturing high-performance liquid chromatography for the detection of mutations and polymorphisms in UBE3A.
Genetic testing 2003;7(3):189-94.
2002: Li Kaiyi; Ramirez Maricela A; Rose Esmie; Beaudet Arthur L
A gene fusion method to screen for regulatory effects on gene expression: application to the LDL receptor.
Human molecular genetics 2002;11(26):3257-65.
2002: Bodamer Olaf A; Bercovich Dan; Schlabach Michael; Ballantyne Christie; Zoch Danièle; Beaudet Arthur L
Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia.
Clinical chemistry 2002;48(11):1913-8.
2002: Beaudet Arthur L
Is medical genetics neglecting epigenetics?
Genetics in medicine : official journal of the American College of Medical Genetics 2002;4(5):399-402.
2002: Zhou Heshan Sam; Zhao Tiejun; Rao X Mei; Beaudet Arthur L
Production of helper-dependent adenovirus vector relies on helper virus structure and complementing.
The journal of gene medicine 2002;4(5):498-509.
2002: Tsai Ting-Fen; Chen Ken-Shiung; Weber John S; Justice Monica J; Beaudet Arthur L
Evidence for translational regulation of the imprinted Snurf-Snrpn locus in mice.
Human molecular genetics 2002;11(14):1659-68.
2002: Beaudet Arthur L; Jiang Yong-Hui
A rheostat model for a rapid and reversible form of imprinting-dependent evolution.
American journal of human genetics 2002;70(6):1389-97.
2002: Toietta Gabriele; Pastore Lucio; Cerullo Vincenzo; Finegold Milton; Beaudet Arthur L; Lee Brendan
Generation of helper-dependent adenoviral vectors by homologous recombination.
Molecular therapy : the journal of the American Society of Gene Therapy 2002;5(2):204-10.
2002: Morral Núria; O'Neal Wanda K; Rice Karen; Leland M Michelle; Piedra Pedro A; Aguilar-Córdova Estuardo; Carey K Dee; Beaudet Arthur L; Langston Claire
Lethal toxicity, severe endothelial injury, and a threshold effect with high doses of an adenoviral vector in baboons.
Human gene therapy 2002;13(1):143-54.
2002: Smith Carolyn L; DeVera Darryll G; Lamb Dolores J; Nawaz Zafar; Jiang Yong-Hui; Beaudet Arthur L; O'Malley Bert W
Genetic ablation of the steroid receptor coactivator-ubiquitin ligase, E6-AP, results in tissue-selective steroid hormone resistance and defects in reproduction.
Molecular and cellular biology 2002;22(2):525-35.
2002: Dunne Jessica L; Ballantyne Christie M; Beaudet Arthur L; Ley Klaus
Control of leukocyte rolling velocity in TNF-alpha-induced inflammation by LFA-1 and Mac-1.
Blood 2002;99(1):336-41.
2002: Zhou Heshan; Pastore Lucio; Beaudet Arthur L
Helper-dependent adenoviral vectors.
Methods in enzymology 2002;346():177-98.
2001: Collins R G; Jung U; Ramirez M; Bullard D C; Hicks M J; Smith C W; Ley K; Beaudet A L
Dermal and pulmonary inflammatory disease in E-selectin and P-selectin double-null mice is reduced in triple-selectin-null mice.
Blood 2001;98(3):727-35.
2001: Bressler J; Tsai T F; Wu M Y; Tsai S F; Ramirez M A; Armstrong D; Beaudet A L
The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice.
Nature genetics 2001;28(3):232-40.
2001: Bodamer O A; Rosenblatt D S; Appel S H; Beaudet A L
Adult-onset combined methylmalonic aciduria and homocystinuria (cblC).
Neurology 2001;56(8):1113.
2001: Zhou H; Zhao T; Pastore L; Nageh M; Zheng W; Rao X M; Beaudet A L
A Cre-expressing cell line and an E1/E2a double-deleted virus for preparation of helper-dependent adenovirus vector.
Molecular therapy : the journal of the American Society of Gene Therapy 2001;3(4):613-22.
2001: Davis R J; Shen W; Sandler Y I; Amoui M; Purcell P; Maas R; Ou C N; Vogel H; Beaudet A L; Mardon G
Dach1 mutant mice bear no gross abnormalities in eye, limb, and brain development and exhibit postnatal lethality.
Molecular and cellular biology 2001;21(5):1484-90.
2001: Manka D; Collins R G; Ley K; Beaudet A L; Sarembock I J
Absence of p-selectin, but not intercellular adhesion molecule-1, attenuates neointimal growth after arterial injury in apolipoprotein e-deficient mice.
Circulation 2001;103(7):1000-5.
2001: Lev-Lehman E; Bercovich D; Xu W; Stockton D W; Beaudet A L
Characterization of the human beta4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4.
Journal of human genetics 2001;46(7):362-6.
2000: O'Neal W K; Rose E; Zhou H; Langston C; Rice K; Carey D; Beaudet A L
Multiple advantages of alpha-fetoprotein as a marker for in vivo gene transfer.
Molecular therapy : the journal of the American Society of Gene Therapy 2000;2(6):640-8.
2000: Forlow S B; White E J; Barlow S C; Feldman S H; Lu H; Bagby G J; Beaudet A L; Bullard D C; Ley K
Severe inflammatory defect and reduced viability in CD18 and E-selectin double-mutant mice.
The Journal of clinical investigation 2000;106(12):1457-66.
2000: Zhou H; Beaudet A L
A new vector system with inducible E2a cell line for production of higher titer and safer adenoviral vectors.
Virology 2000;275(2):348-57.
2000: Franceschini D; Orr-Urtreger A; Yu W; Mackey L Y; Bond R A; Armstrong D; Patrick J W; Beaudet A L; De Biasi M
Altered baroreflex responses in alpha7 deficient mice.
Behavioural brain research 2000;113(1-2):3-10.
2000: Lee B; Yu H; Jahoor F; O'Brien W; Beaudet A L; Reeds P
In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle.
Proceedings of the National Academy of Sciences of the United States of America 2000;97(14):8021-6.
2000: Orr-Urtreger A; Broide R S; Kasten M R; Dang H; Dani J A; Beaudet A L; Patrick J W
Mice homozygous for the L250T mutation in the alpha7 nicotinic acetylcholine receptor show increased neuronal apoptosis and die within 1 day of birth.
Journal of neurochemistry 2000;74(5):2154-66.
2000: O'Neal W K; Zhou H; Morral N; Langston C; Parks R J; Graham F L; Kochanek S; Beaudet A L
Toxicity associated with repeated administration of first-generation adenovirus vectors does not occur with a helper-dependent vector.
Molecular medicine (Cambridge, Mass.) 2000;6(3):179-95.
2000: Collins R G; Velji R; Guevara N V; Hicks M J; Chan L; Beaudet A L
P-Selectin or intercellular adhesion molecule (ICAM)-1 deficiency substantially protects against atherosclerosis in apolipoprotein E-deficient mice.
The Journal of experimental medicine 2000;191(1):189-94.
1999: Cummings C J; Reinstein E; Sun Y; Antalffy B; Jiang Y; Ciechanover A; Orr H T; Beaudet A L; Zoghbi H Y
Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice.
Neuron 1999;24(4):879-92.
1999: Xu W; Orr-Urtreger A; Nigro F; Gelber S; Sutcliffe C B; Armstrong D; Patrick J W; Role L W; Beaudet A L; De Biasi M
Multiorgan autonomic dysfunction in mice lacking the beta2 and the beta4 subunits of neuronal nicotinic acetylcholine receptors.
The Journal of neuroscience : the official journal of the Society for Neuroscience 1999;19(21):9298-305.
1999: Morral N; O'Neal W; Rice K; Leland M; Kaplan J; Piedra P A; Zhou H; Parks R J; Velji R; Aguilar-Córdova E; Wadsworth S; Graham F L; Kochanek S; Carey K D; Beaudet A L
Administration of helper-dependent adenoviral vectors and sequential delivery of different vector serotype for long-term liver-directed gene transfer in baboons.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(22):12816-21.
1999: Tsai T F; Jiang Y H; Bressler J; Armstrong D; Beaudet A L
Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome.
Human molecular genetics 1999;8(8):1357-64.
1999: Pastore L; Morral N; Zhou H; Garcia R; Parks R J; Kochanek S; Graham F L; Lee B; Beaudet A L
Use of a liver-specific promoter reduces immune response to the transgene in adenoviral vectors.
Human gene therapy 1999;10(11):1773-81.
1999: Jiang Y; Lev-Lehman E; Bressler J; Tsai T F; Beaudet A L
Genetics of Angelman syndrome.
American journal of human genetics 1999;65(1):1-6.
1999: Xu W; Gelber S; Orr-Urtreger A; Armstrong D; Lewis R A; Ou C N; Patrick J; Role L; De Biasi M; Beaudet A L
Megacystis, mydriasis, and ion channel defect in mice lacking the alpha3 neuronal nicotinic acetylcholine receptor.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(10):5746-51.
1999: Lee B; Dennis J A; Healy P J; Mull B; Pastore L; Yu H; Aguilar-Cordova E; O'Brien W; Reeds P; Beaudet A L
Hepatocyte gene therapy in a large animal: a neonatal bovine model of citrullinemia.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(7):3981-6.
1999: Beaudet A L
1998 ASHG presidential address. Making genomic medicine a reality.
American journal of human genetics 1999;64(1):1-13.
1999: Fang P; Lev-Lehman E; Tsai T F; Matsuura T; Benton C S; Sutcliffe J S; Christian S L; Kubota T; Halley D J; Meijers-Heijboer H; Langlois S; Graham J M; Beuten J; Willems P J; Ledbetter D H; Beaudet A L
The spectrum of mutations in UBE3A causing Angelman syndrome.
Human molecular genetics 1999;8(1):129-35.
1998: Morral N; Parks R J; Zhou H; Langston C; Schiedner G; Quinones J; Graham F L; Kochanek S; Beaudet A L
High doses of a helper-dependent adenoviral vector yield supraphysiological levels of alpha1-antitrypsin with negligible toxicity.
Human gene therapy 1998;9(18):2709-16.
1998: Jiang Y H; Armstrong D; Albrecht U; Atkins C M; Noebels J L; Eichele G; Sweatt J D; Beaudet A L
Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation.
Neuron 1998;21(4):799-811.
1998: Jung U; Norman K E; Scharffetter-Kochanek K; Beaudet A L; Ley K
Transit time of leukocytes rolling through venules controls cytokine-induced inflammatory cell recruitment in vivo.
The Journal of clinical investigation 1998;102(8):1526-33.
1998: O'Neal W K; Zhou H; Morral N; Aguilar-Cordova E; Pestaner J; Langston C; Mull B; Wang Y; Beaudet A L; Lee B
Toxicological comparison of E2a-deleted and first-generation adenoviral vectors expressing alpha1-antitrypsin after systemic delivery.
Human gene therapy 1998;9(11):1587-98.
1998: Scharffetter-Kochanek K; Lu H; Norman K; van Nood N; Munoz F; Grabbe S; McArthur M; Lorenzo I; Kaplan S; Ley K; Smith C W; Montgomery C A; Rich S; Beaudet A L
Spontaneous skin ulceration and defective T cell function in CD18 null mice.
The Journal of experimental medicine 1998;188(1):119-31.
1998: Jiang Y; Tsai T F; Bressler J; Beaudet A L
Imprinting in Angelman and Prader-Willi syndromes.
Current opinion in genetics & development 1998;8(3):334-42.
1998: Christian S L; Bhatt N K; Martin S A; Sutcliffe J S; Kubota T; Huang B; Mutirangura A; Chinault A C; Beaudet A L; Ledbetter D H
Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb.
Genome research 1998;8(2):146-57.
1998: Schiedner G; Morral N; Parks R J; Wu Y; Koopmans S C; Langston C; Graham F L; Beaudet A L; Kochanek S
Genomic DNA transfer with a high-capacity adenovirus vector results in improved in vivo gene expression and decreased toxicity.
Nature genetics 1998;18(2):180-3.
1998: Patejunas G; Lee B; Dennis J A; Healy P J; Reeds P J; Yu H; Frazer M; Mull B; Warman A W; Beaudet A L; O'Brien W E
Evaluation of gene therapy for citrullinaemia using murine and bovine models.
Journal of inherited metabolic disease 1998;21 Suppl 1():138-50.
1997: Orr-Urtreger A; Göldner F M; Saeki M; Lorenzo I; Goldberg L; De Biasi M; Dani J A; Patrick J W; Beaudet A L
Mice deficient in the alpha7 neuronal nicotinic acetylcholine receptor lack alpha-bungarotoxin binding sites and hippocampal fast nicotinic currents.
The Journal of neuroscience : the official journal of the Society for Neuroscience 1997;17(23):9165-71.
1997: Munoz F M; Hawkins E P; Bullard D C; Beaudet A L; Kaplan S L
Host defense against systemic infection with Streptococcus pneumoniae is impaired in E-, P-, and E-/P-selectin-deficient mice.
The Journal of clinical investigation 1997;100(8):2099-106.
1997: Huq A H; Lovell R S; Ou C N; Beaudet A L; Craigen W J
X-linked glycerol kinase deficiency in the mouse leads to growth retardation, altered fat metabolism, autonomous glucocorticoid secretion and neonatal death.
Human molecular genetics 1997;6(11):1803-9.
1997: Albrecht U; Sutcliffe J S; Cattanach B M; Beechey C V; Armstrong D; Eichele G; Beaudet A L
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons.
Nature genetics 1997;17(1):75-8.
1997: Nageh M F; Sandberg E T; Marotti K R; Lin A H; Melchior E P; Bullard D C; Beaudet A L
Deficiency of inflammatory cell adhesion molecules protects against atherosclerosis in mice.
Arteriosclerosis, thrombosis, and vascular biology 1997;17(8):1517-20.
1997: Bullard D C; King P D; Hicks M J; Dupont B; Beaudet A L; Elkon K B
Intercellular adhesion molecule-1 deficiency protects MRL/MpJ-Fas(lpr) mice from early lethality.
Journal of immunology (Baltimore, Md. : 1950) 1997;159(4):2058-67.
1997: Ligon A H; Beaudet A L; Shaffer L G
Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation.
American journal of human genetics 1997;61(1):51-9.
1997: Sutcliffe J S; Jiang Y H; Galijaard R J; Matsuura T; Fang P; Kubota T; Christian S L; Bressler J; Cattanach B; Ledbetter D H; Beaudet A L
The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region.
Genome research 1997;7(4):368-77.
1997: Lu H; Smith C W; Perrard J; Bullard D; Tang L; Shappell S B; Entman M L; Beaudet A L; Ballantyne C M
LFA-1 is sufficient in mediating neutrophil emigration in Mac-1-deficient mice.
The Journal of clinical investigation 1997;99(6):1340-50.
1997: Matsuura T; Sutcliffe J S; Fang P; Galjaard R J; Jiang Y H; Benton C S; Rommens J M; Beaudet A L
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.
Nature genetics 1997;15(1):74-7.
1996: Kubota T; Sutcliffe J S; Aradhya S; Gillessen-Kaesbach G; Christian S L; Horsthemke B; Beaudet A L; Ledbetter D H
Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome.
American journal of medical genetics 1996;66(1):77-80.
1996: Qin L; Quinlan W M; Doyle N A; Graham L; Sligh J E; Takei F; Beaudet A L; Doerschuk C M
The roles of CD11/CD18 and ICAM-1 in acute Pseudomonas aeruginosa-induced pneumonia in mice.
Journal of immunology (Baltimore, Md. : 1950) 1996;157(11):5016-21.
1996: Doerschuk C M; Quinlan W M; Doyle N A; Bullard D C; Vestweber D; Jones M L; Takei F; Ward P A; Beaudet A L
The role of P-selectin and ICAM-1 in acute lung injury as determined using blocking antibodies and mutant mice.
Journal of immunology (Baltimore, Md. : 1950) 1996;157(10):4609-14.
1996: Staite N D; Justen J M; Sly L M; Beaudet A L; Bullard D C
Inhibition of delayed-type contact hypersensitivity in mice deficient in both E-selectin and P-selectin.
Blood 1996;88(8):2973-9.
1996: Bullard D C; Hurley L A; Lorenzo I; Sly L M; Beaudet A L; Staite N D
Reduced susceptibility to collagen-induced arthritis in mice deficient in intercellular adhesion molecule-1.
Journal of immunology (Baltimore, Md. : 1950) 1996;157(7):3153-8.
1996: Zhou H; O'Neal W; Morral N; Beaudet A L
Development of a complementing cell line and a system for construction of adenovirus vectors with E1 and E2a deleted.
Journal of virology 1996;70(10):7030-8.
1996: Mizgerd J P; Meek B B; Kutkoski G J; Bullard D C; Beaudet A L; Doerschuk C M
Selectins and neutrophil traffic: margination and Streptococcus pneumoniae-induced emigration in murine lungs.
The Journal of experimental medicine 1996;184(2):639-45.
1996: Beuten J; Sutcliffe J S; Casey B M; Beaudet A L; Hennekam R C; Willems P J
Detection of imprinting mutations in Angelman syndrome using a probe for exon alpha of SNRPN.
American journal of medical genetics 1996;63(2):414-5.
1996: Bullard D C; Kunkel E J; Kubo H; Hicks M J; Lorenzo I; Doyle N A; Doerschuk C M; Ley K; Beaudet A L
Infectious susceptibility and severe deficiency of leukocyte rolling and recruitment in E-selectin and P-selectin double mutant mice.
The Journal of experimental medicine 1996;183(5):2329-36.
1996: Beuten J; Hennekam R C; Van Roy B; Mangelschots K; Sutcliffe J S; Halley D J; Hennekam F A; Beaudet A L; Willems P J
Angelman syndrome in an inbred family.
Human genetics 1996;97(3):294-8.
1996: Bullard D C; Scharffetter-Kochanek K; McArthur M J; Chosay J G; McBride M E; Montgomery C A; Beaudet A L
A polygenic mouse model of psoriasiform skin disease in CD18-deficient mice.
Proceedings of the National Academy of Sciences of the United States of America 1996;93(5):2116-21.
1996: Kunkel E J; Jung U; Bullard D C; Norman K E; Wolitzky B A; Vestweber D; Beaudet A L; Ley K
Absence of trauma-induced leukocyte rolling in mice deficient in both P-selectin and intercellular adhesion molecule 1.
The Journal of experimental medicine 1996;183(1):57-65.
1996: Nakao M; Sutcliffe J S; Beaudet A L
Advantages of RT-PCR and denaturing gradient gel electrophoresis for analysis of genomic imprinting: detection of new mouse and human expressed polymorphisms.
Human mutation 1996;7(2):144-8.
1995: Katkin J P; Gilbert B E; Langston C; French K; Beaudet A L
Aerosol delivery of a beta-galactosidase adenoviral vector to the lungs of rodents.
Human gene therapy 1995;6(8):985-95.
1995: Hasty P; O'Neal W K; Liu K Q; Morris A P; Bebok Z; Shumyatsky G B; Jilling T; Sorscher E J; Bradley A; Beaudet A L
Severe phenotype in mice with termination mutation in exon 2 of cystic fibrosis gene.
Somatic cell and molecular genetics 1995;21(3):177-87.
1995: Bullard D C; Qin L; Lorenzo I; Quinlin W M; Doyle N A; Bosse R; Vestweber D; Doerschuk C M; Beaudet A L
P-selectin/ICAM-1 double mutant mice: acute emigration of neutrophils into the peritoneum is completely absent but is normal into pulmonary alveoli.
The Journal of clinical investigation 1995;95(4):1782-8.
1995: Orr-Urtreger A; Seldin M F; Baldini A; Beaudet A L
Cloning and mapping of the mouse alpha 7-neuronal nicotinic acetylcholine receptor.
Genomics 1995;26(2):399-402.
1995: Ley K; Bullard D C; Arbonés M L; Bosse R; Vestweber D; Tedder T F; Beaudet A L
Sequential contribution of L- and P-selectin to leukocyte rolling in vivo.
The Journal of experimental medicine 1995;181(2):669-75.
1995: Fang P; Bouma S; Jou C; Gordon J; Beaudet A L
Simultaneous analysis of mutant and normal alleles for multiple cystic fibrosis mutations by the ligase chain reaction.
Human mutation 1995;6(2):144-51.
1995: Bullard D C; Sandberg E T; Scharffetter-Kochanek K; Beaudet A L
Gene targeting for inflammatory cell adhesion molecules.
Agents and actions. Supplements 1995;47():143-54.
1994: Sutcliffe J S; Nakao M; Christian S; Orstavik K H; Tommerup N; Ledbetter D H; Beaudet A L
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region.
Nature genetics 1994;8(1):52-8.
1994: Vora D K; Rosenbloom C L; Beaudet A L; Cottingham R W
Polymorphisms and linkage analysis for ICAM-1 and the selectin gene cluster.
Genomics 1994;21(3):473-7.
1994: Nakao M; Sutcliffe J S; Durtschi B; Mutirangura A; Ledbetter D H; Beaudet A L
Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).
Human molecular genetics 1994;3(2):309-15.
1994: DeMarchi J M; Beaudet A L; Caskey C T; Richards C S
Experience of an academic reference laboratory using automation for analysis of cystic fibrosis mutations.
Archives of pathology & laboratory medicine 1994;118(1):26-32.
1994: Patejunas G; Bradley A; Beaudet A L; O'Brien W E
Generation of a mouse model for citrullinemia by targeted disruption of the argininosuccinate synthetase gene.
Somatic cell and molecular genetics 1994;20(1):55-60.
1994: DeMarchi J M; Richards C S; Fenwick R G; Pace R; Beaudet A L
A robotics-assisted procedure for large scale cystic fibrosis mutation analysis.
Human mutation 1994;4(4):281-90.
1994: O'Neal W K; Beaudet A L
Somatic gene therapy for cystic fibrosis.
Human molecular genetics 1994;3 Spec No():1497-502.
1993: Mutirangura A; Jayakumar A; Sutcliffe J S; Nakao M; McKinney M J; Buiting K; Horsthemke B; Beaudet A L; Chinault A C; Ledbetter D H
A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.
Genomics 1993;18(3):546-52.
1993: O'Neal W K; Hasty P; McCray P B; Casey B; Rivera-Pérez J; Welsh M J; Beaudet A L; Bradley A
A severe phenotype in mice with a duplication of exon 3 in the cystic fibrosis locus.
Human molecular genetics 1993;2(10):1561-9.
1993: Sligh J E; Ballantyne C M; Rich S S; Hawkins H K; Smith C W; Bradley A; Beaudet A L
Inflammatory and immune responses are impaired in mice deficient in intercellular adhesion molecule 1.
Proceedings of the National Academy of Sciences of the United States of America 1993;90(18):8529-33.
1993: Yorifuji T; Wilson R W; Beaudet A L
Retroviral mediated expression of CD18 in normal and deficient human bone marrow progenitor cells.
Human molecular genetics 1993;2(9):1443-8.
1993: Wilson R W; Ballantyne C M; Smith C W; Montgomery C; Bradley A; O'Brien W E; Beaudet A L
Gene targeting yields a CD18-mutant mouse for study of inflammation.
Journal of immunology (Baltimore, Md. : 1950) 1993;151(3):1571-8.
1993: Orr H T; Chung M Y; Banfi S; Kwiatkowski T J; Servadio A; Beaudet A L; McCall A E; Duvick L A; Ranum L P; Zoghbi H Y
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
Nature genetics 1993;4(3):221-6.
1993: Wilson R W; Yorifuji T; Lorenzo I; Smith W; Anderson D C; Belmont J W; Beaudet A L
Expression of human CD18 in murine granulocytes and improved efficiency for infection of deficient human lymphoblasts.
Human gene therapy 1993;4(1):25-34.
1993: Beaudet A L; Tsui L C
A suggested nomenclature for designating mutations.
Human mutation 1993;2(4):245-8.
1992: Ballantyne C M; Sligh J E; Dai X Y; Beaudet A L
Characterization of the murine Icam-1 gene.
Genomics 1992;14(4):1076-80.
1992: Eng C M; Durtschi B A; Zoghbi H Y; Beaudet A L
Isolation, mapping, and characterization of two cDNA clones expressed in the cerebellum.
Genomics 1992;14(3):813-5.
1992: Sanders W E; Wilson R W; Ballantyne C M; Beaudet A L
Molecular cloning and analysis of in vivo expression of murine P-selectin.
Blood 1992;80(3):795-800.
1992: Beaudet A L
Genetic testing for cystic fibrosis.
Pediatric clinics of North America 1992;39(2):213-28.
1992: Demarquoy J; Herman G E; Lorenzo I; Trentin J; Beaudet A L; O'Brien W E
Long-term expression of human argininosuccinate synthetase in mice following bone marrow transplantation with retrovirus-transduced hematopoietic stem cells.
Human gene therapy 1992;3(1):3-10.
1992: Sligh J E; Hurwitz M Y; Zhu C M; Anderson D C; Beaudet A L
An initiation codon mutation in CD18 in association with the moderate phenotype of leukocyte adhesion deficiency.
The Journal of biological chemistry 1992;267(2):714-8.
1991: Smith C W; Entman M L; Lane C L; Beaudet A L; Ty T I; Youker K; Hawkins H K; Anderson D C
Adherence of neutrophils to canine cardiac myocytes in vitro is dependent on intercellular adhesion molecule-1.
The Journal of clinical investigation 1991;88(4):1216-23.
1991: Ng I S; Pace R; Richard M V; Kobayashi K; Kerem B; Tsui L C; Beaudet A L
Methods for analysis of multiple cystic fibrosis mutations.
Human genetics 1991;87(5):613-7.
1991: Kwiatkowski T J; Beaudet A L; Trask B J; Zoghbi H Y
Linkage mapping and fluorescence in situ hybridization of TCTE1 on human chromosome 6p: analysis of dinucleotide polymorphisms on native gels.
Genomics 1991;10(4):921-6.
1991: Yorifuji T; Lemna W K; Ballard C F; Rosenbloom C L; Rozmahel R; Plavsic N; Tsui L C; Beaudet A L
Molecular cloning and sequence analysis of the murine cDNA for the cystic fibrosis transmembrane conductance regulator.
Genomics 1991;10(3):547-50.
1991: Surh L C; Beaudet A L; O'Brien W E
Molecular characterization of the murine argininosuccinate synthetase locus.
Gene 1991;99(2):181-9.
1991: Ballantyne C M; Kozak C A; O'Brien W E; Beaudet A L
Assignment of the gene for intercellular adhesion molecule-1 (Icam-1) to proximal mouse chromosome 9.
Genomics 1991;9(3):547-50.
1991: Eng C M; Kozak C A; Beaudet A L; Zoghbi H Y
Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse.
Genomics 1991;9(2):278-82.
1991: Kobayashi K; Rosenbloom C; Beaudet A L; O'Brien W E
Additional mutations in argininosuccinate synthetase causing citrullinemia.
Molecular biology & medicine 1991;8(1):95-100.
1991: Beaudet A L; Feldman G L; Kobayashi K; Lemna W K; Fernbach S D; Knowles M R; Boucher R C; O'Brien W E
Mutation analysis for cystic fibrosis in a North American population.
Advances in experimental medicine and biology 1991;290():53-4.
1990: Northrup H; Beaudet A L; O'Brien W E
Prenatal diagnosis of citrullinaemia: review of a 10-year experience including recent use of DNA analysis.
Prenatal diagnosis 1990;10(12):771-9.
1990: Beaudet A L
Carrier screening for cystic fibrosis.
American journal of human genetics 1990;47(4):603-5.
1990: Kobayashi K; Knowles M R; Boucher R C; O'Brien W E; Beaudet A L
Benign missense variations in the cystic fibrosis gene.
American journal of human genetics 1990;47(4):611-5.
1990: Kobayashi K; Jackson M J; Tick D B; O'Brien W E; Beaudet A L
Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.
The Journal of biological chemistry 1990;265(19):11361-7.
1990: Jackson M J; Surh L C; O'Brien W E; Beaudet A L
Assignment of the structural gene for argininosuccinate synthetase to proximal mouse chromosome 2.
Genomics 1990;6(3):545-7.
1990: Lemna W K; Feldman G L; Kerem B; Fernbach S D; Zevkovich E P; O'Brien W E; Riordan J R; Collins F S; Tsui L C; Beaudet A L
Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis.
The New England journal of medicine 1990;322(5):291-6.
1990: Zoghbi H Y; Ballantyne C M; O'Brien W E; McCall A E; Kwiatkowski T J; Ledbetter S A; Beaudet A L
Deletion and linkage mapping of eight markers from the proximal short arm of chromosome 6.
Genomics 1990;6(2):352-7.
1989: Dennis J A; Healy P J; Beaudet A L; O'Brien W E
Molecular definition of bovine argininosuccinate synthetase deficiency.
Proceedings of the National Academy of Sciences of the United States of America 1989;86(20):7947-51.
1989: Northrup H; Lathrop M; Lu S Y; Daiger S P; Beaudet A L; O'Brien W E
Multilocus linkage analysis with the human argininosuccinate synthetase gene.
Genomics 1989;5(3):442-4.
1989: Rosenbloom C L; Kerem B S; Rommens J M; Tsui L C; Wainwright B; Williamson R; O'Brien W E; Beaudet A L
DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis.
Nucleic acids research 1989;17(17):7117.
1989: Ballantyne C M; O'Brien W E; Beaudet A L
Nucleotide sequence of the cDNA for murine intercellular adhesion molecule-1 (ICAM-1).
Nucleic acids research 1989;17(14):5853.
1989: Herman G E; Jaskoski B; Wood P A; Trentin J J; O'Brien W E; Beaudet A L
Expression of human argininosuccinate synthetase in murine hematopoietic cells in vivo.
Somatic cell and molecular genetics 1989;15(4):289-96.
1989: Wilson R W; O'Brien W E; Beaudet A L
Nucleotide sequence of the cDNA from the mouse leukocyte adhesion protein CD18.
Nucleic acids research 1989;17(13):5397.
1989: Feldman G L; Lewiston N; Fernbach S D; O'Brien W E; Williamson R; Wainwright B J; Beaudet A L
Prenatal diagnosis of cystic fibrosis by using linked DNA markers in 138 pregnancies at 1-in-4 risk.
American journal of medical genetics 1989;33(2):238-41.
1989: Jackson M J; Kobayashi K; Beaudet A L; O'Brien W E
Analysis of deletions at the human argininosuccinate synthetase locus.
Molecular biology & medicine 1989;6(2):179-86.
1989: Spence J E; Maddalena A; O'Brien W E; Fernbach S D; Batshaw M L; Leonard C O; Beaudet A L
Prenatal diagnosis and heterozygote detection by DNA analysis in ornithine transcarbamylase deficiency.
The Journal of pediatrics 1989;114(4 Pt 1):582-8.
1989: Beaudet A L; Feldman G L; Fernbach S D; Buffone G J; O'Brien W E
Linkage disequilibrium, cystic fibrosis, and genetic counseling.
American journal of human genetics 1989;44(3):319-26.
1989: Northrup H; Rosenbloom C; O'Brien W E; Beaudet A L
Additional polymorphism for D7S8 linked to cystic fibrosis including detection by DNA amplification.
Nucleic acids research 1989;17(4):1784.
1989: Zoghbi H Y; Sandkuyl L A; Ott J; Daiger S P; Pollack M; O'Brien W E; Beaudet A L
Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis.
American journal of human genetics 1989;44(2):255-63.
1988: Jackson M J; Allen S J; Beaudet A L; O'Brien W E
Metabolite regulation of argininosuccinate synthetase in cultured human cells.
The Journal of biological chemistry 1988;263(31):16388-94.
1988: Surh L C; Morris S M; O'Brien W E; Beaudet A L
Nucleotide sequence of the cDNA encoding the rat argininosuccinate synthetase.
Nucleic acids research 1988;16(19):9352.
1988: Zoghbi H Y; Pollack M S; Lyons L A; Ferrell R E; Daiger S P; Beaudet A L
Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred.
Annals of neurology 1988;23(6):580-4.
1988: Zoghbi H Y; Daiger S P; McCall A; O'Brien W E; Beaudet A L
Extensive DNA polymorphism at the factor XIIIa (F13A) locus and linkage to HLA.
American journal of human genetics 1988;42(6):877-83.
1988: Buffone G J; Spence J E; Fernbach S D; Curry M R; O'Brien W E; Beaudet A L
Prenatal diagnosis of cystic fibrosis: microvillar enzymes and DNA analysis compared.
Clinical chemistry 1988;34(5):933-7.
1988: Ballantyne C M; Zoghbi H Y; Grzeschik K H; O'Brien W E; Beaudet A L
A human single copy DNA probe (ZB6-1) detects multiple polymorphisms on 6q.
Nucleic acids research 1988;16(4):1650.
1988: Spence J E; Perciaccante R G; Greig G M; Willard H F; Ledbetter D H; Hejtmancik J F; Pollack M S; O'Brien W E; Beaudet A L
Uniparental disomy as a mechanism for human genetic disease.
American journal of human genetics 1988;42(2):217-26.
1987: Spence J E; Buffone G J; Rosenbloom C L; Fernbach S D; Curry M R; Carpenter R J; Ledbetter D H; O'Brien W E; Beaudet A L
Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis.
Human genetics 1987;76(1):5-10.
1986: Spence J E; Rosenbloom C L; O'Brien W E; Seilheimer D K; Cole S; Ferrell R E; Stern R C; Beaudet A L
Linkage of DNA markers to cystic fibrosis in 26 families.
American journal of human genetics 1986;39(6):729-34.

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