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Arthur Beaudet

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Chromosomes, Human, Pair 15

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Seema R Lalani; Chumei Li; James R Lupski; Aamir Malik; Zhishuo Ou; Ankita Patel; Lance W Patterson; Daniel J Penny; Lorraine Potocki; Chad Shaw; Pawel Stankiewicz; Przemyslaw Szafranski; Qi Tian; Xueqing Wang; Stephanie M Ware; Runako Whittaker; Fatima M Boricha; Sau Wai Cheung; Brian Dawson; Patricia Hixson; John Lynn Jefferies; Amina Jinnah; Sung-Hae L Kang; Katarzyna Kolodziejska; Sophia Ali; Carlos A Bacino; Arthur L Beaudet; John W Belmont
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
Arthur L Beaudet
The utility of chromosomal microarray analysis in developmental and behavioral pediatrics.
Philip M Boone; Ian M Campbell; Sau Wai Cheung; Amy L McGuire; Ankita Patel; Sharon E Plon; Chad A Shaw; Zachry T Soens; Pawel Stankiewicz; Arthur L Beaudet; James R Lupski
Incidental copy-number variants identified by routine genome testing in a clinical population.

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All Publications

2013: Seema R Lalani; Chumei Li; James R Lupski; Aamir Malik; Zhishuo Ou; Ankita Patel; Lance W Patterson; Daniel J Penny; Lorraine Potocki; Chad Shaw; Pawel Stankiewicz; Przemyslaw Szafranski; Qi Tian; Xueqing Wang; Stephanie M Ware; Runako Whittaker; Fatima M Boricha; Sau Wai Cheung; Brian Dawson; Patricia Hixson; John Lynn Jefferies; Amina Jinnah; Sung-Hae L Kang; Katarzyna Kolodziejska; Sophia Ali; Carlos A Bacino; Arthur L Beaudet; John W Belmont
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
European journal of human genetics : EJHG 2013;21(2):173-81.
2013: Arthur L Beaudet
The utility of chromosomal microarray analysis in developmental and behavioral pediatrics.
Child development 2013;84(1):121-32.
2013: Philip M Boone; Ian M Campbell; Sau Wai Cheung; Amy L McGuire; Ankita Patel; Sharon E Plon; Chad A Shaw; Zachry T Soens; Pawel Stankiewicz; Arthur L Beaudet; James R Lupski
Incidental copy-number variants identified by routine genome testing in a clinical population.
Genetics in medicine : official journal of the American College of Medical Genetics 2013;15(1):45-54.
2012: Arthur L Beaudet
Neuroscience. Preventable forms of autism?
Science (New York, N.Y.) 2012;338(6105):342-3.
2012: Soo-Jeong Kim; Paul J Kuipers; Jennifer L Miller; Trilochan Sahoo; Arthur L Beaudet; Jennifer Ruth German; Daniel J Driscoll
Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes.
European journal of human genetics : EJHG 2012;20(3):283-90.
2012: Arthur L Beaudet
Angelman syndrome: Drugs to awaken a paternal gene.
Nature 2012;481(7380):150-2.
2012: Mei-Yi Wu; Arthur L Beaudet; Ming Jiang; Xiaodong Zhai; Ray-Chang Wu
An unexpected function of the Prader-Willi syndrome imprinting center in maternal imprinting in mice.
PloS one 2012;7(4):e34348.
2012: Patrícia Bs Celestino-Soper; Sau Wai Cheung; Donna Cushing; Patricia Eng; Ladonna Immken; Sung-Hae L Kang; Reuben Matalon; Malgorzata Mj Nowaczyk; Gayle S Patel; Jill A Rosenfeld; Richard Schroer; Jayant Shenai; Cindy Skinner; Roger E Stevenson; Deborah Terespolsky; Alecia Willis; Joanna Wiszniewska; Arthur L Beaudet; Pawel Stankiewicz
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.
Molecular cytogenetics 2012;5():17.
2012: Weimin Bi; Amy Breman; Sau Wai Cheung; Tomasz Gambin; Laird G Jackson; Xinyan Lu; James R Lupski; Chad A Shaw; Pawel Stankiewicz; Ignatia B Van den Veyver; Arthur L Beaudet
Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.
Prenatal diagnosis 2012;32(1):10-20.
2011: Lynne M Bird; Jennifer K Gentile; Daniel G Glaze; Lucia T Horowitz; K Naga Mohan; Mark P Nespeca; Sarika U Peters; Trilochan Sahoo; Dean Sarco; Steven A Skinner; Wen-Hann Tan; Susan E Waisbren; Irina Anselm; Carlos A Bacino; Rene Barbieri-Welge; Astrid Bauer-Carlin; Arthur L Beaudet
A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome.
American journal of medical genetics. Part A 2011;155A(12):2956-63.
2011: Patricia B S Celestino-Soper; A Craig Chinault; Edwin H Cook; Lea Davis; A Gulhan Ercan-Sencicek; Tomasz Gambin; Jennifer R German; Jian Li; Aleksandar Milosavljevic; Michael T Murtha; Zhishuo Ou; Stephan Sanders; Chad A Shaw; Pawel Stankiewicz; Sate Matthew; James S Sutcliffe; Susanne Thomson; Arthur L Beaudet
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Human molecular genetics 2011;20(22):4360-70.
2011: Christian P Schaaf; Joanna Wiszniewska; Arthur L Beaudet
Copy number and SNP arrays in clinical diagnostics.
Annual review of genomics and human genetics 2011;12():25-51.
2011: Xiaoming Wang; Richard J Weinberg; William C Wetsel; Gangyi Wu; Arthur L Beaudet; Janet Berrios; Danielle Bousquet-Moore; Jennifer S Colvin; Michael D Ehlers; H Shawn Je; Caroline J Kim; Isabel Lorenzo; Portia A McCoy; Yanzhen Pan; Benjamin D Philpot; Adam C Roberts; Ramona M Rodriguiz; Yong-Hui Jiang
Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3.
Human molecular genetics 2011;20(15):3093-108.
2011: Stephan Sanders; Chad A Shaw; Michael Sheldon; Youeun Song; James S Sutcliffe; Susanne A Thomson; Jay A Tischfield; Christopher Walsh; Qi Wang; Brian L Yaspan; Timothy W Yu; Ilana R Yurkiewicz; Nicole R Davis Wright; Arthur L Beaudet; Kaya Bilguvar; Andrew I Brooks; Rita M Cantor; Patricia B S Celestino-Soper; Murim Choi; Su H Chu; Edwin H Cook; Emily L Crawford; Martin Curland; Lea Davis; Bernie Devlin; Rahul M Dhodapkar; Michael DiCola; Nicholas M DiLullo; A Gulhan Ercan-Sencicek; Thomas V Fernandez; Vikram Fielding-Singh; Daniel O Fishman; Eric Fombonne; Stephanie Frahm; Rouben Garagaloyan; Daniel Geschwind; Gerald S Goh; Dorothy E Grice; Murat Günel; Abha R Gupta; Vanessa Hus; Sindhuja Kammela; Lambertus Klei; David Ledbetter; Richard P Lifton; Catherine Lord; Jennifer K Lowe; Sabata C Lund; Rui Luo; Shrikant M Mane; Christa Lese Martin; Donna M Martin; Christopher E Mason; Anna D McGrew; Kyle A Meyer; William J Moffat; Michael P Moreau; Daniel Moreno-De-Luca; Eric M Morrow; John D Murdoch; Michael T Murtha; Gordon T Ober; Brian J O'Roak; Rebecca S Pottenger; Melanie J Raubeson; Kathryn Roeder; Sate Matthew
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Neuron 2011;70(5):863-85.
2011: Marwan Shinawi; Trilochan Sahoo; Bruno Maranda; S A Skinner; Cindy Skinner; Craig Chinault; Roxanne Zascavage; Sarika U Peters; Ankita Patel; Roger E Stevenson; Arthur L Beaudet
11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity.
American journal of medical genetics. Part A 2011;155A(6):1272-80.
2011: Arthur L Beaudet
Progress toward noninvasive prenatal diagnosis.
Clinical chemistry 2011;57(6):802-4.
2011: David Dimmock; Nicola Brunetti-Pierri; Donna J Palmer; Arthur L Beaudet; Philip Ng
Correction of hyperbilirubinemia in gunn rats using clinically relevant low doses of helper-dependent adenoviral vectors.
Human gene therapy 2011;22(4):483-8.
2011: C P Schaaf; D A Scott; J Wiszniewska; Arthur L Beaudet
Identification of incestuous parental relationships by SNP-based DNA microarrays.
Lancet 2011;377(9765):555-6.
2011: Larissa R Stewart; Sung-Hae L Kang; April L Hall; Chad A Shaw; Arthur L Beaudet
High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy.
BMC medical genetics 2011;12():154.
2011: Wen-Hann Tan; Carlos A Bacino; Steven A Skinner; Irina Anselm; Rene Barbieri-Welge; Astrid Bauer-Carlin; Arthur L Beaudet; Terry Jo Bichell; Jennifer K Gentile; Daniel G Glaze; Lucia T Horowitz; Sanjeev V Kothare; Hye-Seung Lee; Mark P Nespeca; Sarika U Peters; Trilochan Sahoo; Dean Sarco; Susan E Waisbren; Lynne M Bird
Angelman syndrome: Mutations influence features in early childhood.
American journal of medical genetics. Part A 2011;155A(1):81-90.
2010: Arthur L Beaudet; Robin Page Goin-Kochel
Some, but not complete, reassurance on the safety of folic acid fortification.
The American journal of clinical nutrition 2010;92(6):1287-8.
2010: Philip M Boone; Carlos A Bacino; Chad A Shaw; Patricia A Eng; Patricia M Hixson; Amber N Pursley; Sung-Hae L Kang; Yaping Yang; Joanna Wiszniewska; Beata A Nowakowska; Daniela del Gaudio; Zhilian Xia; Gayle Simpson-Patel; LaDonna L Immken; James B Gibson; Anne C-H Tsai; Jennifer A Bowers; Tyler E Reimschisel; Christian P Schaaf; Lorraine Potocki; Fernando Scaglia; Tomasz Gambin; Maciej Sykulski; Magdalena Bartnik; Katarzyna Derwinska; Barbara Wisniowiecka-Kowalnik; Seema R Lalani; Frank J Probst; Weimin Bi; Arthur L Beaudet; Ankita Patel; James R Lupski; Sau Wai Cheung; Pawel Stankiewicz
Detection of clinically relevant exonic copy-number changes by array CGH.
Human mutation 2010;31(12):1326-42.
2010: Bradley E Bernstein; John A Stamatoyannopoulos; Joseph F Costello; Bing Ren; Aleksandar Milosavljevic; Alexander Meissner; Manolis Kellis; Marco A Marra; Arthur L Beaudet; Joseph R Ecker; Peggy J Farnham; Martin Hirst; Eric S Lander; Tarjei S Mikkelsen; James A Thomson
The NIH Roadmap Epigenomics Mapping Consortium.
Nature biotechnology 2010;28(10):1045-8.
2010: Jennifer K Gentile; Wen-Hann Tan; Lucia T Horowitz; Carlos A Bacino; Steven A Skinner; Rene Barbieri-Welge; Astrid Bauer-Carlin; Arthur L Beaudet; Terry Jo Bichell; Hye-Seung Lee; Trilochan Sahoo; Susan E Waisbren; Lynne M Bird; Sarika U Peters
A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations.
Journal of developmental and behavioral pediatrics : JDBP 2010;31(7):592-601.
2010: Arthur L Beaudet
Which way for genetic-test regulation? Leave test interpretation to specialists.
Nature 2010;466(7308):816-7.
2010: Sarika U Peters; Lynne M Bird; Virginia E Kimonis; Daniel G Glaze; Lina M Shinawi; Terry Jo Bichell; Rene Barbieri-Welge; Mark Nespeca; Irina Anselm; Susan E Waisbren; Erica Sanborn; Qin Sun; William E O'Brien; Arthur L Beaudet; Carlos A Bacino
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.
American journal of medical genetics. Part A 2010;152A(8):1994-2001.
2010: Tao Yang; Roberto Mendoza-Londono; Huifang Lu; Jianning Tao; Kaiyi Li; Bettina Keller; Ming Ming Jiang; Rina Shah; Yuqing Chen; Terry K Bertin; Feyza Engin; Branka Dabovic; Daniel B Rifkin; John Hicks; Milan Jamrich; Arthur L Beaudet; Brendan Lee
E-selectin ligand-1 regulates growth plate homeostasis in mice by inhibiting the intracellular processing and secretion of mature TGF-beta.
The Journal of clinical investigation 2010;120(7):2474-85.
2010: Przemyslaw Szafranski; Christian P Schaaf; Richard E Person; Ian B Gibson; Zhilian Xia; Sangeetha Mahadevan; Joanna Wiszniewska; Carlos A Bacino; Seema R Lalani; Lorraine Potocki; Sung-Hae Kang; Ankita Patel; Sau Wai Cheung; Frank J Probst; Brett H Graham; Marwan Shinawi; Arthur L Beaudet; Pawel Stankiewicz
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
Human mutation 2010;31(7):840-50.
2010: Marwan Shinawi; Pengfei Liu; Sung-Hae L Kang; Joseph Shen; John W Belmont; Daryl A Scott; Frank J Probst; William J Craigen; Brett H Graham; Amber Pursley; Gary Clark; Jennifer Lee; Monica Proud; Amber Stocco; Diana L Rodriguez; Beth A Kozel; Steven P Sparagana; Elizabeth R Roeder; Susan G McGrew; Thaddeus W Kurczynski; Leslie J Allison; Stephen Amato; Sarah Savage; Ankita Patel; Pawel Stankiewicz; Arthur L Beaudet; Sau Wai Cheung; James R Lupski
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
Journal of medical genetics 2010;47(5):332-41.
2010: S U Dhar; Daniela del Gaudio; J R German; Sarika U Peters; Zhishuo Ou; P I Bader; Jonathan S Berg; Maria Blazo; Chester W Brown; Brett H Graham; T A Grebe; Seema R Lalani; Mira Irons; Steven P Sparagana; M Williams; J A Phillips; Arthur L Beaudet; Pawel Stankiewicz; Ankita Patel; Sau Wai Cheung; T Sahoo
22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.
American journal of medical genetics. Part A 2010;152A(3):573-81.
2010: Yong-Hui Jiang; Yanzhen Pan; Li Zhu; Luis Landa; Jong Yoo; Corinne Spencer; Isabel Lorenzo; Murray Brilliant; Jeffrey Noebels; Arthur L Beaudet
Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.
PloS one 2010;5(8):e12278.
2010: Arthur L Beaudet
Ethical issues raised by common copy number variants and single nucleotide polymorphisms of certain and uncertain significance in general medical practice.
Genome medicine 2010;2(7):42.
2010: Timothy Buie; Daniel B Campbell; George J Fuchs; Glenn T Furuta; Joseph Levy; Judith A van de Water; Agnes H Whitaker; Dan Atkins; Margaret L Bauman; Arthur L Beaudet; Edward G Carr; Michael D Gershon; Susan L Hyman; Pipop Jirapinyo; Harumi Jyonouchi; Koorosh Kooros; Rafail Kushak; Pat Levitt; Susan E Levy; Jeffery D Lewis; Katherine F Murray; Marvin R Natowicz; Aderbal Sabra; Barry K Wershil; Sharon C Weston; Lonnie Zeltzer; Harland Winter
Evaluation, diagnosis, and treatment of gastrointestinal disorders in individuals with ASDs: a consensus report.
Pediatrics 2010;125 Suppl 1():S1-18.
2009: Marwan Shinawi; Christian P Schaaf; samarth Bhatt; Zhilian Xia; Ankita Patel; Sau Wai Cheung; Brendan Lanpher; Sandra Nagl; Heinrich Stephan Herding; Claudia Nevinny-Stickel; LaDonna L Immken; Gayle Simpson Patel; Jennifer Ruth German; Arthur L Beaudet; Pawel Stankiewicz
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.
Nature genetics 2009;41(12):1269-71.
2009: Scott V Dindot; Richard Person; Mark A Strivens; Rejinaldo Garcia; Arthur L Beaudet
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: S Ben-Shachar; B Lanpher; J R German; M Qasaymeh; Lorraine Potocki; S C Sreenath Nagamani; L M Franco; A Malphrus; G W Bottenfield; J E Spence; S Amato; J A Rousseau; B Moghaddam; C Skinner; S A Skinner; S Bernes; N Armstrong; Marwan Shinawi; Pawel Stankiewicz; Ankita Patel; Sau Wai Cheung; James R Lupski; Arthur L Beaudet; Trilochan Sahoo
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: Svetlana A Yatsenko; Chad A Shaw; Zhishuo Ou; Amber N Pursley; Ankita Patel; Weimin Bi; Sau Wai Cheung; James R Lupski; A Craig Chinault; Arthur L Beaudet
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: Robin Page Goin-Kochel; Anne E Porter; Sarika U Peters; Marwan Shinawi; Trilochan Sahoo; Arthur L Beaudet
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: Weimin Bi; Tamar Sapir; Oleg A Shchelochkov; Feng Zhang; Marjorie Withers; Jill V Hunter; Talia Levy; Vera Shinder; Daniel A Peiffer; Kevin L Gunderson; Marjan M Nezarati; Vern Ann Shotts; Stephen S Amato; Sarah K Savage; David J Harris; Debra-Lynn Day-Salvatore; Michele Horner; Xin-Yan Lu; Trilochan Sahoo; Yuchio Yanagawa; Arthur L Beaudet; Sau Wai Cheung; Salvador Martinez; James R Lupski; Orly Reiner
Increased LIS1 expression affects human and mouse brain development.
Nature genetics 2009;41(2):168-77.
2009: Nicola Brunetti-Pierri; Gary E Stapleton; Mark Law; John Breinholt; Donna J Palmer; Yu Zuo; Nathan C Grove; Milton J Finegold; Karen Rice; Arthur L Beaudet; Charles E Mullins; Philip Ng
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: Ignatia B Van den Veyver; Ankita Patel; Chad A Shaw; Amber N Pursley; Sung-Hae L Kang; Marcia J Simovich; Patricia A Ward; Sandra Darilek; Anthony Johnson; Sarah E Neill; Weimin Bi; Lisa D White; Christine M Eng; James R Lupski; Sau Wai Cheung; Arthur L Beaudet
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.
Prenatal diagnosis 2009;29(1):29-39.
2009: Caroline M Ogilvie; Yuval Yaron; Arthur L Beaudet
Current controversies in prenatal diagnosis 3: For prenatal diagnosis, should we offer less or more than metaphase karyotyping?
Prenatal diagnosis 2009;29(1):11-4.
2008: Xin-Yan Lu; Mai T Phung; Chad A Shaw; Kim Pham; Sarah E Neil; Ankita Patel; Trilochan Sahoo; Carlos A Bacino; Pawel Stankiewicz; Sung-Hae Lee Kang; Seema R Lalani; A Craig Chinault; James R Lupski; Sau Wai Cheung; Arthur L Beaudet
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.
Pediatrics 2008;122(6):1310-8.
2008: Weimin Bi; Amy M Breman; Susan F Venable; Patricia A Eng; Trilochan Sahoo; Xin-Yan Lu; Ankita Patel; Arthur L Beaudet; Sau Wai Cheung; Lisa D White
Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH.
Prenatal diagnosis 2008;28(10):943-9.
2008: Mei-Yi Wu; Karen W Eldin; Arthur L Beaudet
Identification of chromatin remodeling genes Arid4a and Arid4b as leukemia suppressor genes.
Journal of the National Cancer Institute 2008;100(17):1247-59.
2008: Daniela del Gaudio; Yaping Yang; Barbara A Boggs; Eric S Schmitt; Jennifer A Lee; Trilochan Sahoo; Hoang T Pham; Joanna Wiszniewska; A Craig Chinault; Arthur L Beaudet; Christine M Eng
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: Lina Shao; Chad A Shaw; Xin-Yan Lu; Trilochan Sahoo; Carlos A Bacino; Seema R Lalani; Pawel Stankiewicz; Svetlana A Yatsenko; Yinfeng Li; Sarah Neill; Amber N Pursley; A Craig Chinault; Ankita Patel; Arthur L Beaudet; James R Lupski; Sau Wai Cheung
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: Sergio Fanella; Joanne Embree; Bhawana Arora; Saurabh Goel; Sauraby Goel; Frank J Probst; Ankita Patel; Arthur L Beaudet
Index of suspicion.
Pediatrics in review / American Academy of Pediatrics 2008;29(8):281-7.
2008: Trilochan Sahoo; Daniela del Gaudio; Jennifer R German; Marwan Shinawi; Sarika U Peters; Richard E Person; Adolfo Garnica; Sau Wai Cheung; Arthur L Beaudet
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: Arthur L Beaudet
Allan Award lecture: Rare patients leading to epigenetics and back to genetics.
American journal of human genetics 2008;82(5):1034-8.
2008: Zhishuo Ou; Sung-Hae L Kang; Chad A Shaw; Condie E Carmack; Lisa D White; Ankita Patel; Arthur L Beaudet; Sau Wai Cheung; A Craig Chinault
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: Arthur L Beaudet
Epigenetics and complex human disease: is there a role in IBD?
Journal of pediatric gastroenterology and nutrition 2008;46 Suppl 1():E2.
2008: Yong-Hui Jiang; Kekio Wauki; Qian Liu; Jan Bressler; Yanzhen Pan; Catherine D Kashork; Lisa Shaffer; Arthur L Beaudet
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: Arthur L Beaudet; John W Belmont
Array-based DNA diagnostics: let the revolution begin.
Annual review of medicine 2008;59():113-29.
2008: Scott V Dindot; Barbara Antalffy; Meenakshi B Bhattacharjee; Arthur L Beaudet
The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology.
Human molecular genetics 2008;17(1):111-8.
2007: Lisa Shaffer; Arthur L Beaudet; Arthur R Brothman; Betsy Hirsch; Brynn Levy; Christa Lese Martin; James T Mascarello; Kathleen W Rao
Microarray analysis for constitutional cytogenetic abnormalities.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(9):654-62.
2007: Trilochan Sahoo; Carlos A Bacino; Jennifer R German; Chad A Shaw; Lynne M Bird; Virginia E Kimonis; Irinia Anselm; Susan E Waisbren; Arthur L Beaudet; Sarika U Peters
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: Sau Wai Cheung; Chad A Shaw; Daryl A Scott; Ankita Patel; Trilochan Sahoo; Carlos A Bacino; Amber Pursley; Jiangzhen Li; Robert Erickson; Andrea Gropman; David T Miller; Margretta R Seashore; Anne M Summers; Pawel Stankiewicz; A Craig Chinault; James R Lupski; Arthur L Beaudet; V Reid Sutton
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics.
American journal of medical genetics. Part A 2007;143A(15):1679-86.
2007: Jonathan S Berg; Nicola Brunetti-Pierri; Sarika U Peters; Sung-Hae L Kang; Chin-To Fong; Jessica Salamone; Debra Freedenberg; Vickie L Hannig; Lisa Albers Prock; David T Miller; Peter Raffalli; David J Harris; Robert P Erickson; Christopher Cunniff; Gary D Clark; Maria A Blazo; Daniel A Peiffer; Kevin L Gunderson; Trilochan Sahoo; Ankita Patel; James R Lupski; Arthur L Beaudet; Sau Wai Cheung
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: Pawel Stankiewicz; Arthur L Beaudet
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: Arthur L Beaudet
Autism: highly heritable but not inherited.
Nature medicine 2007;13(5):534-6.
2007: Nicola Brunetti-Pierri; Gary E Stapleton; Donna J Palmer; Yu Zuo; Viraj Mane; Milton J Finegold; Arthur L Beaudet; M Michelle Leland; Charles E Mullins; Philip Ng
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: Daniel C Bullard; Xianzhen Hu; Trenton R Schoeb; Robert G Collins; Arthur L Beaudet; Scott R Barnum
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: Xinyan Lu; Chad A Shaw; Ankita Patel; Jiangzhen Li; M Lance Cooper; William R Wells; Cathy M Sullivan; Trilochan Sahoo; Svetlana A Yatsenko; Carlos A Bacino; Pawel Stankiewicz; Zhishuo Ou; A Craig Chinault; Arthur L Beaudet; James R Lupski; Sau Wai Cheung; Patricia A Ward
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.
PloS one 2007;2(3):e327.
2006: Daniela del Gaudio; Ping Fang; Fernando Scaglia; Patricia A Ward; William J Craigen; Daniel G Glaze; Jeffrey L Neul; Ankita Patel; Jennifer A Lee; Mira Irons; Susan A Berry; Amber Pursley; Theresa A Grebe; Debra Freedenberg; Rick A Martin; Gary E Hsich; Jena R Khera; Neil R Friedman; Huda Y Zoghbi; Christine M Eng; James R Lupski; Arthur L Beaudet; Sau Wai Cheung; Benjamin B Roa
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: Trilochan Sahoo; Sau Wai Cheung; Patricia Ward; Sandra Darilek; Ankita Patel; Daniela del Gaudio; Sung-Hae L Kang; Seema R Lalani; Jiangzhen Li; Sallie McAdoo; Audrey Burke; Chad A Shaw; Pawel Stankiewicz; A Craig Chinault; Ignatia B Van den Veyver; Benjamin B Roa; Arthur L Beaudet; Christine M Eng
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: Mei-Yi Wu; Ting-Fen Tsai; Arthur L Beaudet
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: Jennifer Miller; John Kranzler; Yijun Liu; Ilona M Schmalfuss; Douglas W Theriaque; Jonathan J Shuster; Ann Hatfield; O Thomas Mueller; Anthony P Goldstone; Trilochan Sahoo; Arthur L Beaudet; Daniel J Driscoll
Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity.
The Journal of pediatrics 2006;149(2):192-8.
2006: Trilochan Sahoo; Sarika U Peters; Niru Madduri; Daniel G Glaze; J R German; Lynne M Bird; R Barbieri-Welge; T J Bichell; Arthur L Beaudet; Carlos A Bacino
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: Nicola Brunetti-Pierri; Thomas Ng; David A Iannitti; Donna J Palmer; Arthur L Beaudet; Milton J Finegold; K Dee Carey; William G Cioffi; Philip Ng
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: Ignatia B Van den Veyver; Arthur L Beaudet
Comparative genomic hybridization and prenatal diagnosis.
Current opinion in obstetrics & gynecology 2006;18(2):185-91.
2006: Charles A Williams; Arthur L Beaudet; Jill Clayton-Smith; Joan H Knoll; Martin Kyllerman; Laura A Laan; R Ellen Magenis; Anne Moncla; Albert A Schinzel; Jane A Summers; Joseph Wagstaff
Angelman syndrome 2005: updated consensus for diagnostic criteria.
American journal of medical genetics. Part A 2006;140(5):413-8.
2006: Mei-Yi Wu; Ken-Shiung Chen; Jan Bressler; Aihua Hou; Ting-Fen Tsai; Arthur L Beaudet
Mouse imprinting defect mutations that model Angelman syndrome.
Genesis (New York, N.Y. : 2000) 2006;44(1):12-22.
2005: Trilochan Sahoo; Chad A Shaw; Andrew S Young; Nathan L Whitehouse; Richard J Schroer; Roger E Stevenson; Arthur L Beaudet
Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements.
American journal of medical genetics. Part A 2005;139A(2):106-13.
2005: Sara L Farmen; Philip H Karp; Philip Ng; Donna J Palmer; David R Koehler; Jim Hu; Arthur L Beaudet; Joseph Zabner; Michael J Welsh
Gene transfer of CFTR to airway epithelia: low levels of expression are sufficient to correct Cl- transport and overexpression can generate basolateral CFTR.
American journal of physiology. Lung cellular and molecular physiology 2005;289(6):L1123-30.
2005: Sau Wai Cheung; Chad A Shaw; Wei Yu; Jiangzham Li; Zhishuo Ou; Ankita Patel; Svetlana A Yatsenko; M Lance Cooper; Patti Furman; Pawel Stankiewicz; Pawal Stankiewicz; James R Lupski; A Craig Chinault; Arthur L Beaudet
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: Nicola Brunetti-Pierri; Timothy C Nichols; Stephanie McCorquodale; Elizabeth P Merricks; Donna J Palmer; Arthur L Beaudet; Philip Ng
Sustained phenotypic correction of canine hemophilia B after systemic administration of helper-dependent adenoviral vector.
Human gene therapy 2005;16(7):811-20.
2005: Nicola Brunetti-Pierri; Donna J Palmer; Viraj Mane; Milton Finegold; Arthur L Beaudet; Philip Ng
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: Olaf Bodamer; Trilochan Sahoo; Arthur L Beaudet; William E O'Brien; Teodoro Bottiglieri; Sylvia Stöckler-Ipsiroglu; Conrad Wagner; Fernando Scaglia
Creatine metabolism in combined methylmalonic aciduria and homocystinuria.
Annals of neurology 2005;57(4):557-60.
2005: Maria A Croyle; Hong T Le; Klaus D Linse; Vincenzo Cerullo; Gabriele Toietta; Arthur L Beaudet; Lucio Pastore
PEGylated helper-dependent adenoviral vectors: highly efficient vectors with an enhanced safety profile.
Gene therapy 2005;12(7):579-87.
2005: Jianxin Bao; Debin Lei; Yafei Du; Kevin K Ohlemiller; Arthur L Beaudet; Lorna W Role
Requirement of nicotinic acetylcholine receptor subunit beta2 in the maintenance of spiral ganglion neurons during aging.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2005;25(12):3041-5.
2005: Gabriele Toietta; Viraj Mane; Wilma S Norona; Milton J Finegold; Philip Ng; Antony F McDonagh; Arthur L Beaudet; Brendan Lee
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: Yong Liang; Ramiro Salas; Lisa Marubio; Dani Bercovich; Mariella De Biasi; Arthur L Beaudet; John A Dani
Functional polymorphisms in the human beta4 subunit of nicotinic acetylcholine receptors.
Neurogenetics 2005;6(1):37-44.
2005: Juan Arredondo; Alexander I Chernyavsky; Lisa M Marubio; Arthur L Beaudet; David Jolkovsky; Kent E Pinkerton; Sergei A Grando
Receptor-mediated tobacco toxicity: regulation of gene expression through alpha3beta2 nicotinic receptor in oral epithelial cells.
The American journal of pathology 2005;166(2):597-613.
2004: Sarika U Peters; Arthur L Beaudet; Niru Madduri; Carlos A Bacino
Autism in Angelman syndrome: implications for autism research.
Clinical genetics 2004;66(6):530-6.
2004: Yong-Hui Jiang; Trilochan Sahoo; Ron C Michaelis; Dani Bercovich; Jan Bressler; Catherine D Kashork; Qian Liu; Lisa Shaffer; Richard J Schroer; David Wayne Stockton; Richard S Spielman; Roger E Stevenson; Arthur L Beaudet
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: Asad Mian; W Michael McCormack; Viraj Mane; Soledad Kleppe; Philip Ng; Milton Finegold; William E O'Brien; John R Rodgers; Arthur L Beaudet; Brendan Lee
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: Arthur L Beaudet
Complex imprinting.
Nature genetics 2004;36(8):793-5.
2004: Yong-Hui Jiang; Arthur L Beaudet
Human disorders of ubiquitination and proteasomal degradation.
Current opinion in pediatrics 2004;16(4):419-26.
2004: Sarika U Peters; Jan Goddard-Finegold; Arthur L Beaudet; Niru Madduri; Marie Turcich; Carlos A Bacino
Cognitive and adaptive behavior profiles of children with Angelman syndrome.
American journal of medical genetics. Part A 2004;128A(2):110-3.
2004: Rebecca L Robker; Robert G Collins; Arthur L Beaudet; Harry J Mersmann; C Wayne Smith
Leukocyte migration in adipose tissue of mice null for ICAM-1 and Mac-1 adhesion receptors.
Obesity research 2004;12(6):936-40.
2004: Merav Kedmi; Arthur L Beaudet; Avi Orr-Urtreger
Mice lacking neuronal nicotinic acetylcholine receptor beta4-subunit and mice lacking both alpha5- and beta4-subunits are highly resistant to nicotine-induced seizures.
Physiological genomics 2004;17(2):221-9.
2004: Vu Thuong Nguyen; Alexander I Chernyavsky; Juan Arredondo; Dani Bercovich; Avi Orr-Urtreger; Douglas Vetter; Jürgen Wess; Arthur L Beaudet; Yasuo Kitajima; Sergei A Grando
Synergistic control of keratinocyte adhesion through muscarinic and nicotinic acetylcholine receptor subtypes.
Experimental cell research 2004;294(2):534-49.
2004: Lucio Pastore; L Maria Belalcazar; Kazuhiro Oka; Racel Cela; Brendan Lee; Lawrence Chan; Arthur L Beaudet
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: Christine J Shaw; Chad A Shaw; Wei Yu; Pawel Stankiewicz; Lisa D White; Arthur L Beaudet; James R Lupski
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: Yong-Hui Jiang; Jan Bressler; Arthur L Beaudet
Epigenetics and human disease.
Annual review of genomics and human genetics 2004;5():479-510.
2004: Nicola Brunetti-Pierri; Donna J Palmer; Arthur L Beaudet; K Dee Carey; Milton Finegold; Philip Ng
Acute toxicity after high-dose systemic injection of helper-dependent adenoviral vectors into nonhuman primates.
Human gene therapy 2004;15(1):35-46.
2003: Ting-Fen Tsai; Jan Bressler; Yong-Hui Jiang; Arthur L Beaudet
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: Jessica L Dunne; Robert G Collins; Arthur L Beaudet; Christie M Ballantyne; Klaus Ley
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: Seung-Hyo Lee; Joseph E Prince; Muhammad Rais; Farrah Kheradmand; Felix R Shardonofsky; Huifang Lu; Arthur L Beaudet; C Wayne Smith; Lynn Soong; David B Corry
Differential requirement for CD18 in T-helper effector homing.
Nature medicine 2003;9(10):1281-6.
2003: Wei Yu; Blake C Ballif; Catherine D Kashork; Heidi A Heilstedt; Leslie A Howard; Wei-Wen Cai; Lisa D White; Wenbin Liu; Arthur L Beaudet; Bassem A Bejjani; Chad A Shaw; Lisa Shaffer
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: L Maria Belalcazar; Aksam J Merched; Boyd Carr; Kazuhiro Oka; Kuang-Hua Chen; Lucio Pastore; Arthur L Beaudet; Lawrence Chan
Long-term stable expression of human apolipoprotein A-I mediated by helper-dependent adenovirus gene transfer inhibits atherosclerosis progression and remodels atherosclerotic plaques in a mouse model of familial hypercholesterolemia.
Circulation 2003;107(21):2726-32.
2003: Gabriele Toietta; David R Koehler; Milton J Finegold; Brendan Lee; Jim Hu; Arthur L Beaudet
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: Ramiro Salas; Avi Orr-Urtreger; Ron S Broide; Arthur L Beaudet; Richard Paylor; Mariella De Biasi
The nicotinic acetylcholine receptor subunit alpha 5 mediates short-term effects of nicotine in vivo.
Molecular pharmacology 2003;63(5):1059-66.
2003: Edwin J Weeber; Yong-Hui Jiang; Ype Elgersma; Andrew W Varga; Yarimar Carrasquillo; Sarah E Brown; Jill M Christian; Banefsheh Mirnikjoo; Alcino Silva; Arthur L Beaudet; J David Sweatt
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: Juan Arredondo; Leon L Hall; Assane Ndoye; Vu Thuong Nguyen; Alexander I Chernyavsky; Dani Bercovich; Avi Orr-Urtreger; Arthur L Beaudet; Sergei A Grando
Central role of fibroblast alpha3 nicotinic acetylcholine receptor in mediating cutaneous effects of nicotine.
Laboratory investigation; a journal of technical methods and pathology 2003;83(2):207-25.
2003: Dani Bercovich; Arthur L Beaudet
Denaturing high-performance liquid chromatography for the detection of mutations and polymorphisms in UBE3A.
Genetic testing 2003;7(3):189-94.
2002: Kaiyi Li; Maricela A Ramirez; Esmie Rose; Arthur L Beaudet
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: Olaf Bodamer; Dani Bercovich; Michael Schlabach; Christie M Ballantyne; Danièle Zoch; Arthur L Beaudet
Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia.
Clinical chemistry 2002;48(11):1913-8.
2002: Liran Shlush; Doron M Behar; Adrian Zelazny; Nathan Keller; James R Lupski; Arthur L Beaudet; Dani Bercovich
Molecular epidemiological analysis of the changing nature of a meningococcal outbreak following a vaccination campaign.
Journal of clinical microbiology 2002;40(10):3565-71.
2002: Arthur L Beaudet
Is medical genetics neglecting epigenetics?
Genetics in medicine : official journal of the American College of Medical Genetics 2002;4(5):399-402.
2002: Heshan Sam Zhou; Tiejun Zhao; Xiao-Mei Rao; Arthur L Beaudet
Production of helper-dependent adenovirus vector relies on helper virus structure and complementing.
The journal of gene medicine 2002;4(5):498-509.
2002: Ting-Fen Tsai; Ken-Shiung Chen; John S Weber; Monica J Justice; Arthur L Beaudet
Evidence for translational regulation of the imprinted Snurf-Snrpn locus in mice.
Human molecular genetics 2002;11(14):1659-68.
2002: Arthur L Beaudet; Yong-Hui Jiang
A rheostat model for a rapid and reversible form of imprinting-dependent evolution.
American journal of human genetics 2002;70(6):1389-97.
2002: Paul Whiteaker; Cyrus G Peterson; Wei Xu; J Michael McIntosh; Richard Paylor; Arthur L Beaudet; Allan C Collins; Michael J Marks
Involvement of the alpha3 subunit in central nicotinic binding populations.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2002;22(7):2522-9.
2002: Gabriele Toietta; Lucio Pastore; Vincenzo Cerullo; Milton Finegold; Arthur L Beaudet; Brendan Lee
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: Heshan Zhou; Lucio Pastore; Arthur L Beaudet
Helper-dependent adenoviral vectors.
Methods in enzymology 2002;346():177-98.
2002: Núria Morral; Wanda O Neal; Karen Rice; M Michelle Leland; Pedro Piedra; Estuardo Aguilar-Córdova; K Dee Carey; Arthur L Beaudet; Claire Langston
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: Carolyn L Smith; Darryll G DeVera; Dolores J Lamb; Zafar Nawaz; Yong-Hui Jiang; Arthur L Beaudet; Bert W O'Malley
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: Jessica L Dunne; Christie M Ballantyne; Arthur L Beaudet; Klaus Ley
Control of leukocyte rolling velocity in TNF-alpha-induced inflammation by LFA-1 and Mac-1.
Blood 2002;99(1):336-41.
2001: Margaret J Sampson; William Decker; Arthur L Beaudet; W Ruitenbeek; D Armstrong; M J Hicks; William J Craigen
Immotile sperm and infertility in mice lacking mitochondrial voltage-dependent anion channel type 3.
The Journal of biological chemistry 2001;276(42):39206-12.
2001: Robert G Collins; Unsu Jung; M Ramirez; Daniel C Bullard; M J Hicks; C Wayne Smith; Klaus Ley; Arthur L Beaudet
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: Jan Bressler; Ting-Fen Tsai; Mei-Yi Wu; S F Tsai; M A Ramirez; Dawna Armstrong; Arthur L Beaudet
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: Olaf Bodamer; D S Rosenblatt; Stanley H Appel; Arthur L Beaudet
Adult-onset combined methylmalonic aciduria and homocystinuria (cblC).
Neurology 2001;56(8):1113.
2001: Heshan Zhou; Tiejun Zhao; Lucio Pastore; MF Nageh; W Zheng; Xiao-Mei Rao; Arthur L Beaudet
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: Kazuhiro Oka; Lucio Pastore; I H Kim; Aksam J Merched; S Nomura; H J Lee; Maria Merched-Sauvage; C Arden-Riley; Brendan Lee; Milton Finegold; Arthur L Beaudet; Lawrence Chan
Long-term stable correction of low-density lipoprotein receptor-deficient mice with a helper-dependent adenoviral vector expressing the very low-density lipoprotein receptor.
Circulation 2001;103(9):1274-81.
2001: R J Davis; W Shen; Y I Sandler; M Amoui; Patricia Purcell; R Maas; Ching-Nan Ou; Hannes Vogel; Arthur L Beaudet; Graeme Mardon
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: David Manka; R G Collins; Klaus Ley; Arthur L Beaudet; Ian J Sarembock
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: E Lev-Lehman; Dani Bercovich; Weidong Xu; David Wayne Stockton; Arthur L Beaudet
Characterization of the human beta4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4.
Journal of human genetics 2001;46(7):362-6.
2000: Wanda O Neal; E Rose; Heshan Zhou; Claire Langston; Karen Rice; D Carey; Arthur L Beaudet
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: S Bradley Forlow; E James White; Shayne C Barlow; Sanford H Feldman; H Lu; Gregory J Bagby; Arthur L Beaudet; Daniel C Bullard; Klaus Ley
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: Heshan Zhou; Arthur L Beaudet
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: D Franceschini; Avi Orr-Urtreger; W Yu; L Y Mackey; R A Bond; D Armstrong; James W Patrick; Arthur L Beaudet; Mariella De Biasi
Altered baroreflex responses in alpha7 deficient mice.
Behavioural brain research 2000;113(1-2):3-10.
2000: Brendan Lee; H Yu; Farook Jahoor; William O'Brien; Arthur L Beaudet; Peter J Reeds
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: Elizabeth A Sweeney; Gregory V Priestley; Betty Nakamoto; R G Collins; Arthur L Beaudet; Thalia Papayannopoulou
Mobilization of stem/progenitor cells by sulfated polysaccharides does not require selectin presence.
Proceedings of the National Academy of Sciences of the United States of America 2000;97(12):6544-9.
2000: Avi Orr-Urtreger; Ron S Broide; Michael R Kasten; H Dang; John A Dani; Arthur L Beaudet; James W Patrick
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: Wanda O Neal; Heshan Zhou; Núria Morral; Claire Langston; RJ Parks; FL Graham; Stefan Kochanek; Arthur L Beaudet
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: Robert G Collins; R Velji; N V Guevara; M J Hicks; Lawrence Chan; Arthur L Beaudet
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: CJ Cummings; Eyal Reinstein; Yaling Sun; Barbara Antalffy; Y Jiang; Aaron Ciechanover; Harry T Orr; Arthur L Beaudet; Huda Y Zoghbi
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: F Willmroth; Arthur L Beaudet
Structure of the murine E-selectin ligand 1 (ESL-1) gene and assignment to Chromosome 8.
Mammalian genome : official journal of the International Mammalian Genome Society 1999;10(11):1085-8.
1999: Weidong Xu; Avi Orr-Urtreger; F Nigro; S Gelber; C B Sutcliffe; Dawna Armstrong; James W Patrick; Lorna W Role; Arthur L Beaudet; Mariella De Biasi
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: Núria Morral; Wanda O Neal; Karen Rice; M Michelle Leland; J Kaplan; Pedro Piedra; Heshan Zhou; RJ Parks; R Velji; Estuardo Aguilar-Córdova; S Wadsworth; FL Graham; Stefan Kochanek; K Dee Carey; Arthur L Beaudet
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: Daniel C Bullard; J M Mobley; J M Justen; LM Sly; JG Chosay; CJ Dunn; J Russell Lindsey; Arthur L Beaudet; ND Staite
Acceleration and increased severity of collagen-induced arthritis in P-selectin mutant mice.
Journal of immunology (Baltimore, Md. : 1950) 1999;163(5):2844-9.
1999: Ting-Fen Tsai; Yong-Hui Jiang; Jan Bressler; Dawna Armstrong; Arthur L Beaudet
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: Lucio Pastore; Núria Morral; Heshan Zhou; R Garcia; RJ Parks; Stefan Kochanek; FL Graham; Brendan Lee; Arthur L Beaudet
Use of a liver-specific promoter reduces immune response to the transgene in adenoviral vectors.
Human gene therapy 1999;10(11):1773-81.
1999: Y Jiang; E Lev-Lehman; Jan Bressler; Ting-Fen Tsai; Arthur L Beaudet
Genetics of Angelman syndrome.
American journal of human genetics 1999;65(1):1-6.
1999: Weidong Xu; S Gelber; Avi Orr-Urtreger; Dawna Armstrong; R A Lewis; Ching-Nan Ou; J Patrick; Lorna W Role; Mariella De Biasi; Arthur L Beaudet
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: T F Tsai; D Armstrong; Arthur L Beaudet
Necdin-deficient mice do not show lethality or the obesity and infertility of Prader-Willi syndrome.
Nature genetics 1999;22(1):15-6.
1999: Brendan Lee; Julie A Dennis; P J Healy; Benjamin Mull; L Pastore; H Yu; Estuardo Aguilar-Cordova; William O'Brien; Peter J Reeds; Arthur L Beaudet
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: Arthur L Beaudet
1998 ASHG presidential address. Making genomic medicine a reality.
American journal of human genetics 1999;64(1):1-13.
1999: Ping Fang; E Lev-Lehman; Ting-Fen Tsai; Tohru Matsuura; C S Benton; James S Sutcliffe; Susan L Christian; T Kubota; D J Halley; Hanne Meijers-Heijboer; S Langlois; J M Graham; J Beuten; P J Willems; David Ledbetter; Arthur L Beaudet
The spectrum of mutations in UBE3A causing Angelman syndrome.
Human molecular genetics 1999;8(1):129-35.
1998: Núria Morral; RJ Parks; Heshan Zhou; Claire Langston; Gudrun Schiedner; J Quinones; FL Graham; Stefan Kochanek; Arthur L Beaudet
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: T F Tsai; Annick Raas-Rothschild; Ziva Ben-Neriah; Arthur L Beaudet
Prenatal diagnosis and carrier detection for a point mutation in UBE3A causing Angelman syndrome.
American journal of human genetics 1998;63(5):1561-3.
1998: Unsu Jung; K E Norman; K Scharffetter-Kochanek; Arthur L Beaudet; Klaus Ley
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: Yong-Hui Jiang; Dawna Armstrong; Urs Albrecht; Coleen M Atkins; Jeffrey L Noebels; Gregor Eichele; J David Sweatt; Arthur L Beaudet
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: Wanda O Neal; Heshan Zhou; Núria Morral; Estuardo Aguilar-Cordova; J Pestaner; Claire Langston; Benjamin Mull; Y Wang; Arthur L Beaudet; Brendan Lee
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: K Scharffetter-Kochanek; H Lu; K Norman; N van Nood; F Munoz; S Grabbe; M McArthur; I Lorenzo; S Kaplan; K Ley; C W Smith; Charles Montgomery; S Rich; Arthur L Beaudet
Spontaneous skin ulceration and defective T cell function in CD18 null mice.
The Journal of experimental medicine 1998;188(1):119-31.
1998: Y Jiang; Ting-Fen Tsai; Jan Bressler; Arthur L Beaudet
Imprinting in Angelman and Prader-Willi syndromes.
Current opinion in genetics & development 1998;8(3):334-42.
1998: Susan L Christian; N K Bhatt; S A Martin; James S Sutcliffe; T Kubota; B Huang; A Mutirangura; A C Chinault; Arthur L Beaudet; David Ledbetter
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: Gudrun Schiedner; Núria Morral; RJ Parks; Ying Wu; S C Koopmans; Claire Langston; FL Graham; Arthur L Beaudet; Stefan Kochanek
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: G Patejunas; Brendan Lee; Julie A Dennis; P J Healy; Peter J Reeds; H Yu; ME Frazer; Benjamin Mull; A W Warman; Arthur L Beaudet; William E O'Brien
Evaluation of gene therapy for citrullinaemia using murine and bovine models.
Journal of inherited metabolic disease 1998;21 Suppl 1():138-50.
1997: Avi Orr-Urtreger; F M Göldner; M Saeki; I Lorenzo; L Goldberg; Mariella De Biasi; John A Dani; James W Patrick; Arthur L Beaudet
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: F M Munoz; Edith P Hawkins; Daniel C Bullard; Arthur L Beaudet; Sheldon L Kaplan
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: AHM M Huq; R S Lovell; Ching-Nan Ou; Arthur L Beaudet; William J Craigen
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: Urs Albrecht; James S Sutcliffe; Bruce M Cattanach; Colin V Beechey; Dawna Armstrong; Gregor Eichele; Arthur L Beaudet
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons.
Nature genetics 1997;17(1):75-8.
1997: Daniel C Bullard; Philip D King; M J Hicks; Bo Dupont; Arthur L Beaudet; K B Elkon
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: MF Nageh; E T Sandberg; Keith Marotti; Alice H Lin; Earline P Melchior; Daniel C Bullard; Arthur L Beaudet
Deficiency of inflammatory cell adhesion molecules protects against atherosclerosis in mice.
Arteriosclerosis, thrombosis, and vascular biology 1997;17(8):1517-20.
1997: A H Ligon; Arthur L Beaudet; Lisa Shaffer
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: Núria Morral; Wanda O Neal; Heshan Zhou; Claire Langston; Arthur L Beaudet
Immune responses to reporter proteins and high viral dose limit duration of expression with adenoviral vectors: comparison of E2a wild type and E2a deleted vectors.
Human gene therapy 1997;8(10):1275-86.
1997: AHM M Huq; James S Sutcliffe; M Nakao; Y Shen; R A Gibbs; Arthur L Beaudet
Sequencing and functional analysis of the SNRPN promoter: in vitro methylation abolishes promoter activity.
Genome research 1997;7(6):642-8.
1997: J Wong; B Johnston; Samuel S Lee; Daniel C Bullard; C W Smith; Arthur L Beaudet; Paul Kubes
A minimal role for selectins in the recruitment of leukocytes into the inflamed liver microvasculature.
The Journal of clinical investigation 1997;99(11):2782-90.
1997: James S Sutcliffe; Yong-Hui Jiang; R J Galijaard; Tohru Matsuura; Ping Fang; T Kubota; Susan L Christian; Jan Bressler; Bruce M Cattanach; David Ledbetter; Arthur L Beaudet
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: S Kanwar; Daniel C Bullard; Michael J Hickey; CW Smith; Arthur L Beaudet; B A Wolitzky; Paul Kubes
The association between alpha4-integrin, P-selectin, and E-selectin in an allergic model of inflammation.
The Journal of experimental medicine 1997;185(6):1077-87.
1997: Huifang Lu; C Wayne Smith; Jerry L Perrard; Daniel C Bullard; Liping Tang; S B Shappell; Mark L Entman; Arthur L Beaudet; Christie M Ballantyne
LFA-1 is sufficient in mediating neutrophil emigration in Mac-1-deficient mice.
The Journal of clinical investigation 1997;99(6):1340-50.
1997: Tohru Matsuura; James S Sutcliffe; Ping Fang; R J H Galjaard; Yong-Hui Jiang; C S Benton; J M Rommens; Arthur L Beaudet
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.
Nature genetics 1997;15(1):74-7.
1996: T Kubota; James S Sutcliffe; S Aradhya; G Gillessen-Kaesbach; Susan L Christian; Bernhard Horsthemke; Arthur L Beaudet; David Ledbetter
Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome.
American journal of medical genetics 1996;66(1):77-80.
1996: L Qin; WM Quinlan; N A Doyle; L Graham; J E Sligh; F Takei; Arthur L Beaudet; Claire Doerschuk
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: Claire Doerschuk; WM Quinlan; N A Doyle; Daniel C Bullard; Dietmar Vestweber; M L Jones; F Takei; Peter A Ward; Arthur L Beaudet
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: FP Lindberg; D C Bullard; T E Caver; H D Gresham; Arthur L Beaudet; Eric J Brown
Decreased resistance to bacterial infection and granulocyte defects in IAP-deficient mice.
Science (New York, N.Y.) 1996;274(5288):795-8.
1996: ND Staite; J M Justen; LM Sly; Arthur L Beaudet; Daniel C Bullard
Inhibition of delayed-type contact hypersensitivity in mice deficient in both E-selectin and P-selectin.
Blood 1996;88(8):2973-9.
1996: Daniel C Bullard; L A Hurley; I Lorenzo; LM Sly; Arthur L Beaudet; ND Staite
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: Heshan Zhou; Wanda O Neal; Núria Morral; Arthur L Beaudet
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: Joseph P Mizgerd; B B Meek; G J Kutkoski; Daniel C Bullard; Arthur L Beaudet; Claire Doerschuk
Selectins and neutrophil traffic: margination and Streptococcus pneumoniae-induced emigration in murine lungs.
The Journal of experimental medicine 1996;184(2):639-45.
1996: J Beuten; James S Sutcliffe; B M Casey; Arthur L Beaudet; Raoul Hennekam; Patrick J Willems
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: T Kumasaka; WM Quinlan; N A Doyle; Tom Condon; J Sligh; F Takei; Arthur L Beaudet; C F Bennett; Claire Doerschuk
Role of the intercellular adhesion molecule-1(ICAM-1) in endotoxin-induced pneumonia evaluated using ICAM-1 antisense oligonucleotides, anti-ICAM-1 monoclonal antibodies, and ICAM-1 mutant mice.
The Journal of clinical investigation 1996;97(10):2362-9.
1996: Daniel C Bullard; EJ Kunkel; Hiroshi Kubo; M J Hicks; I Lorenzo; N A Doyle; Claire Doerschuk; Klaus Ley; Arthur L Beaudet
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: Daniel C Bullard; K Scharffetter-Kochanek; M J McArthur; J G Chosay; M E McBride; Charles Montgomery; Arthur L Beaudet
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: J Beuten; Raoul Hennekam; B Van Roy; Kathelijne Mangelschots; James S Sutcliffe; D J J Halley; F A Hennekam; Arthur L Beaudet; Patrick J Willems
Angelman syndrome in an inbred family.
Human genetics 1996;97(3):294-8.
1996: M Nakao; James S Sutcliffe; Arthur L Beaudet
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.
1996: EJ Kunkel; Unsu Jung; Daniel C Bullard; K E Norman; B A Wolitzky; Dietmar Vestweber; Arthur L Beaudet; Klaus Ley
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.
1995: Huiying Yang; D K Vora; Stephan R Targan; H Toyoda; Arthur L Beaudet; Jerome I Rotter
Intercellular adhesion molecule 1 gene associations with immunologic subsets of inflammatory bowel disease.
Gastroenterology 1995;109(2):440-8.
1995: Julie P Katkin; Brian E Gilbert; Claire Langston; K French; Arthur L Beaudet
Aerosol delivery of a beta-galactosidase adenoviral vector to the lungs of rodents.
Human gene therapy 1995;6(8):985-95.
1995: Philip D King; E T Sandberg; Annamalai Selvakumar; P Fang; Arthur L Beaudet; Bo Dupont
Novel isoforms of murine intercellular adhesion molecule-1 generated by alternative RNA splicing.
Journal of immunology (Baltimore, Md. : 1950) 1995;154(11):6080-93.
1995: Edward Hasty; Wanda O Neal; K Q Liu; Andrew P Morris; Z Bebok; G B Shumyatsky; T Jilling; Eric J Sorscher; Allan Bradley; Arthur L Beaudet
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: Daniel C Bullard; L Qin; I Lorenzo; W M Quinlin; N A Doyle; R Bosse; Dietmar Vestweber; Claire Doerschuk; Arthur L Beaudet
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: Avi Orr-Urtreger; Michael F Seldin; Antonio Baldini; Arthur L Beaudet
Cloning and mapping of the mouse alpha 7-neuronal nicotinic acetylcholine receptor.
Genomics 1995;26(2):399-402.
1995: Klaus Ley; Daniel C Bullard; M L Arbonés; R Bosse; Dietmar Vestweber; Thomas F Tedder; Arthur L Beaudet
Sequential contribution of L- and P-selectin to leukocyte rolling in vivo.
The Journal of experimental medicine 1995;181(2):669-75.
1995: Ping Fang; S Bouma; C Jou; J Gordon; Arthur L Beaudet
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: Daniel C Bullard; E T Sandberg; K Scharffetter-Kochanek; Arthur L Beaudet
Gene targeting for inflammatory cell adhesion molecules.
Agents and actions. Supplements 1995;47():143-54.
1994: James S Sutcliffe; M Nakao; Susan L Christian; K H Orstavik; Niels Tommerup; David Ledbetter; Arthur L Beaudet
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: D K Vora; C L Rosenbloom; Arthur L Beaudet; R W Cottingham
Polymorphisms and linkage analysis for ICAM-1 and the selectin gene cluster.
Genomics 1994;21(3):473-7.
1994: M Nakao; James S Sutcliffe; B Durtschi; A Mutirangura; David Ledbetter; Arthur L Beaudet
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: J M DeMarchi; Arthur L Beaudet; CT Caskey; Carolyn S (Sue) Richards
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: G Patejunas; Allan Bradley; Arthur L Beaudet; William E O'Brien
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: J M DeMarchi; Carolyn S (Sue) Richards; R G Fenwick; R Pace; Arthur L Beaudet
A robotics-assisted procedure for large scale cystic fibrosis mutation analysis.
Human mutation 1994;4(4):281-90.
1994: Wanda O Neal; Arthur L Beaudet
Somatic gene therapy for cystic fibrosis.
Human molecular genetics 1994;3 Spec No():1497-502.
1993: A Mutirangura; A Jayakumar; James S Sutcliffe; M Nakao; M J McKinney; Karin Buiting; Bernhard Horsthemke; Arthur L Beaudet; A Craig Chinault; David Ledbetter
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: K Kobayashi; N Shaheen; R Kumashiro; K Tanikawa; W E O'Brien; Arthur L Beaudet; Takeyori Saheki
A search for the primary abnormality in adult-onset type II citrullinemia.
American journal of human genetics 1993;53(5):1024-30.
1993: Wanda O Neal; Edward Hasty; P B McCray; Brett Casey; J Rivera-Pérez; M J Welsh; Arthur L Beaudet; Allan Bradley
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: J E Sligh; Christie M Ballantyne; S S Rich; H K Hawkins; C W Smith; Allan Bradley; Arthur L Beaudet
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: T Yorifuji; R W Wilson; Arthur L Beaudet
Retroviral mediated expression of CD18 in normal and deficient human bone marrow progenitor cells.
Human molecular genetics 1993;2(9):1443-8.
1993: R W Wilson; Christie M Ballantyne; C Wayne Smith; C Montgomery; Allan Bradley; William E O'Brien; Arthur L Beaudet
Gene targeting yields a CD18-mutant mouse for study of inflammation.
Journal of immunology (Baltimore, Md. : 1950) 1993;151(3):1571-8.
1993: Harry T Orr; M Y Chung; Sandro Banfi; T J Kwiatkowski; A Servadio; Arthur L Beaudet; A E McCall; Lisa A Duvick; Laura P W Ranum; Huda Y Zoghbi
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
Nature genetics 1993;4(3):221-6.
1993: A E Scheuerle; R McVie; Arthur L Beaudet; S K Shapira
Arginase deficiency presenting as cerebral palsy.
Pediatrics 1993;91(5):995-6.
1993: R W Wilson; T Yorifuji; I Lorenzo; W Smith; D C Anderson; John W Belmont; Arthur L Beaudet
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: M L Levin; ANN SCHEIMANN; R A Lewis; Arthur L Beaudet
Cerebral edema in maple syrup urine disease.
The Journal of pediatrics 1993;122(1):167-8.
1993: Arthur L Beaudet; Lap-Chee Tsui
A suggested nomenclature for designating mutations.
Human mutation 1993;2(4):245-8.
1992: Christie M Ballantyne; J E Sligh; X Y Dai; Arthur L Beaudet
Characterization of the murine Icam-1 gene.
Genomics 1992;14(4):1076-80.
1992: C M Eng; B A Durtschi; Huda Y Zoghbi; Arthur L Beaudet
Isolation, mapping, and characterization of two cDNA clones expressed in the cerebellum.
Genomics 1992;14(3):813-5.
1992: W E Sanders; R W Wilson; Christie M Ballantyne; Arthur L Beaudet
Molecular cloning and analysis of in vivo expression of murine P-selectin.
Blood 1992;80(3):795-800.
1992: Arthur L Beaudet
Genetic testing for cystic fibrosis.
Pediatric clinics of North America 1992;39(2):213-28.
1992: Arthur L Beaudet; W E O'Brien
Advantages of a two-step laboratory approach for cystic fibrosis carrier screening.
American journal of human genetics 1992;50(2):439-40.
1992: J Demarquoy; G E Herman; I Lorenzo; J Trentin; Arthur L Beaudet; William E O'Brien
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: J E Sligh; Mary Y Hurwitz; Chengming Zhu; D C Anderson; Arthur L Beaudet
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: C Wayne Smith; Mark L Entman; C L Lane; Arthur L Beaudet; T I Ty; Keith A Youker; H K Hawkins; D C Anderson
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: I S Ng; R Pace; M V Richard; K Kobayashi; Batsheva Kerem; Lap-Chee Tsui; Arthur L Beaudet
Methods for analysis of multiple cystic fibrosis mutations.
Human genetics 1991;87(5):613-7.
1991: T J Kwiatkowski; Arthur L Beaudet; Barbara J Trask; Huda Y Zoghbi
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: T Yorifuji; W K Lemna; C F Ballard; C L Rosenbloom; Richard Rozmahel; N Plavsic; Lap-Chee Tsui; Arthur L Beaudet
Molecular cloning and sequence analysis of the murine cDNA for the cystic fibrosis transmembrane conductance regulator.
Genomics 1991;10(3):547-50.
1991: Arthur L Beaudet; R G Perciaccante; Garry R Cutting
Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy.
American journal of human genetics 1991;48(6):1213.
1991: L C Surh; Arthur L Beaudet; William E O'Brien
Molecular characterization of the murine argininosuccinate synthetase locus.
Gene 1991;99(2):181-9.
1991: Christie M Ballantyne; C A Kozak; William E O'Brien; Arthur L Beaudet
Assignment of the gene for intercellular adhesion molecule-1 (Icam-1) to proximal mouse chromosome 9.
Genomics 1991;9(3):547-50.
1991: C M Eng; C A Kozak; Arthur L Beaudet; Huda Y Zoghbi
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: K Kobayashi; C Rosenbloom; Arthur L Beaudet; William E O'Brien
Additional mutations in argininosuccinate synthetase causing citrullinemia.
Molecular biology & medicine 1991;8(1):95-100.
1991: Arthur L Beaudet; Gerald L Feldman; K Kobayashi; W K Lemna; S D Fernbach; Michael Knowles; Richard C Boucher; William E O'Brien
Mutation analysis for cystic fibrosis in a North American population.
Advances in experimental medicine and biology 1991;290():53-4.
1990: Hope Northrup; Arthur L Beaudet; William E O'Brien
Prenatal diagnosis of citrullinaemia: review of a 10-year experience including recent use of DNA analysis.
Prenatal diagnosis 1990;10(12):771-9.
1990: Arthur L Beaudet
Carrier screening for cystic fibrosis.
American journal of human genetics 1990;47(4):603-5.
1990: K Kobayashi; Michael Knowles; Richard C Boucher; William E O'Brien; Arthur L Beaudet
Benign missense variations in the cystic fibrosis gene.
American journal of human genetics 1990;47(4):611-5.
1990: K Kobayashi; M J Jackson; D B Tick; William E O'Brien; Arthur L Beaudet
Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.
The Journal of biological chemistry 1990;265(19):11361-7.
1990: M J Jackson; L C Surh; William E O'Brien; Arthur L Beaudet
Assignment of the structural gene for argininosuccinate synthetase to proximal mouse chromosome 2.
Genomics 1990;6(3):545-7.
1990: K Michael Gibson; C F Lee; V Kamali; K Johnston; Arthur L Beaudet; W J Craigen; B R Powell; R Schwartz; M Y Tsai; M Tuchman
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new cases.
Clinical chemistry 1990;36(2):297-303.
1990: C T Caskey; M M Kaback; Arthur L Beaudet
The American Society of Human Genetics statement on cystic fibrosis screening.
American journal of human genetics 1990;46(2):393.
1990: W K Lemna; Gerald L Feldman; Batsheva Kerem; S D Fernbach; E P Zevkovich; William E O'Brien; John R Riordan; Francis S Collins; Lap-Chee Tsui; Arthur L Beaudet
Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis.
The New England journal of medicine 1990;322(5):291-6.
1990: Huda Y Zoghbi; Christie M Ballantyne; William E O'Brien; A E McCall; T J Kwiatkowski; Susan Airhart; Arthur L Beaudet
Deletion and linkage mapping of eight markers from the proximal short arm of chromosome 6.
Genomics 1990;6(2):352-7.
1990: F K Fujimura; H Northrup; Arthur L Beaudet; W E O'Brien
Genotyping errors with the polymerase chain reaction.
The New England journal of medicine 1990;322(1):61.
1989: Julie A Dennis; P J Healy; Arthur L Beaudet; William E O'Brien
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: Hope Northrup; M Lathrop; S Y Lu; Stephen P Daiger; Arthur L Beaudet; William E O'Brien
Multilocus linkage analysis with the human argininosuccinate synthetase gene.
Genomics 1989;5(3):442-4.
1989: C L Rosenbloom; Batsheva Kerem; J M Rommens; Lap-Chee Tsui; Brandon J Wainwright; R Williamson; William E O'Brien; Arthur L Beaudet
DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis.
Nucleic acids research 1989;17(17):7117.
1989: Christie M Ballantyne; William E O'Brien; Arthur L Beaudet
Nucleotide sequence of the cDNA for murine intercellular adhesion molecule-1 (ICAM-1).
Nucleic acids research 1989;17(14):5853.
1989: R W Wilson; William E O'Brien; Arthur L Beaudet
Nucleotide sequence of the cDNA from the mouse leukocyte adhesion protein CD18.
Nucleic acids research 1989;17(13):5397.
1989: G E Herman; B Jaskoski; Philip A Wood; J J Trentin; William E O'Brien; Arthur L Beaudet
Expression of human argininosuccinate synthetase in murine hematopoietic cells in vivo.
Somatic cell and molecular genetics 1989;15(4):289-96.
1989: Gerald L Feldman; N Lewiston; S D Fernbach; William E O'Brien; R Williamson; Brandon J Wainwright; Arthur L Beaudet
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: M J Jackson; K Kobayashi; Arthur L Beaudet; William E O'Brien
Analysis of deletions at the human argininosuccinate synthetase locus.
Molecular biology & medicine 1989;6(2):179-86.
1989: J E Spence; A Maddalena; William E O'Brien; S D Fernbach; M L Batshaw; C O Leonard; Arthur L Beaudet
Prenatal diagnosis and heterozygote detection by DNA analysis in ornithine transcarbamylase deficiency.
The Journal of pediatrics 1989;114(4 Pt 1):582-8.
1989: Arthur L Beaudet; Gerald L Feldman; S D Fernbach; G J Buffone; William E O'Brien
Linkage disequilibrium, cystic fibrosis, and genetic counseling.
American journal of human genetics 1989;44(3):319-26.
1989: Hope Northrup; C Rosenbloom; William E O'Brien; Arthur L Beaudet
Additional polymorphism for D7S8 linked to cystic fibrosis including detection by DNA amplification.
Nucleic acids research 1989;17(4):1784.
1989: Huda Y Zoghbi; L A Sandkuyl; J Ott; Stephen P Daiger; M Pollack; William E O'Brien; Arthur L Beaudet
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: M J Jackson; S J Allen; Arthur L Beaudet; William E O'Brien
Metabolite regulation of argininosuccinate synthetase in cultured human cells.
The Journal of biological chemistry 1988;263(31):16388-94.
1988: A O Martin; H Northrup; David Ledbetter; Barbara J Trask; Ger van den Engh; M M Le Beau; Arthur L Beaudet; Joe Gray; G Sekhon; N Krassikoff
Prenatal detection of 46,XY,rec(5),dup q, inv(5)(p13q33) using DNA analysis, flow cytometry, and in situ hybridization to supplement classical cytogenetic analysis.
American journal of medical genetics 1988;31(3):643-54.
1988: L C Surh; Sidney Morris; William E O'Brien; Arthur L Beaudet
Nucleotide sequence of the cDNA encoding the rat argininosuccinate synthetase.
Nucleic acids research 1988;16(19):9352.
1988: M Farrall; Brandon J Wainwright; Gerald L Feldman; Arthur L Beaudet; Z Sretenovic; D Halley; M Simon; L Dickerman; M Devoto; Giovanni Romeo
Recombinations between IRP and cystic fibrosis.
American journal of human genetics 1988;43(4):471-5.
1988: F D Ledley; R Koch; K Jew; Arthur L Beaudet; William E O'Brien; D P Bartos; SL Woo
Phenylalanine hydroxylase expression in liver of a fetus with phenylketonuria.
The Journal of pediatrics 1988;113(3):463-8.
1988: Gerald L Feldman; R Williamson; Arthur L Beaudet; W E O'Brien
Prenatal diagnosis of cystic fibrosis by DNA amplification for detection of KM-19 polymorphism.
Lancet 1988;2(8602):102.
1988: Huda Y Zoghbi; M S Pollack; L A Lyons; Robert E Ferrell; Stephen P Daiger; Arthur L Beaudet
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: Huda Y Zoghbi; Stephen P Daiger; A McCall; William E O'Brien; Arthur L Beaudet
Extensive DNA polymorphism at the factor XIIIa (F13A) locus and linkage to HLA.
American journal of human genetics 1988;42(6):877-83.
1988: G J Buffone; J E Spence; S D Fernbach; M R Curry; William E O'Brien; Arthur L Beaudet
Prenatal diagnosis of cystic fibrosis: microvillar enzymes and DNA analysis compared.
Clinical chemistry 1988;34(5):933-7.
1988: Christie M Ballantyne; Huda Y Zoghbi; K H Grzeschik; William E O'Brien; Arthur L Beaudet
A human single copy DNA probe (ZB6-1) detects multiple polymorphisms on 6q.
Nucleic acids research 1988;16(4):1650.
1988: J E Spence; R G Perciaccante; G M Greig; H F Willard; David Ledbetter; J Fielding Hejtmancik; M S Pollack; William E O'Brien; Arthur L Beaudet
Uniparental disomy as a mechanism for human genetic disease.
American journal of human genetics 1988;42(2):217-26.
1988: Arthur L Beaudet; J E Spence; M Montes; W E O'Brien; X Estivill; M Farrall; R Williamson
Experience with new DNA markers for the diagnosis of cystic fibrosis.
The New England journal of medicine 1988;318(1):50-1.
1987: Hope Northrup; Arthur L Beaudet; W E O'Brien; G E Herman; R A Lewis; M S Pollack
Linkage of tuberous sclerosis to ABO blood group.
Lancet 1987;2(8562):804-5.
1987: Arthur L Beaudet; G J Buffone
Prenatal diagnosis of cystic fibrosis.
The Journal of pediatrics 1987;111(4):630-3.
1987: M W Berchtold; P Epstein; Arthur L Beaudet; M E Payne; C W Heizmann; A R Means
Structural organization and chromosomal assignment of the parvalbumin gene.
The Journal of biological chemistry 1987;262(18):8696-701.
1987: J E Spence; G J Buffone; C L Rosenbloom; S D Fernbach; M R Curry; R J Carpenter; David Ledbetter; William E O'Brien; Arthur L Beaudet
Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis.
Human genetics 1987;76(1):5-10.
1987: Arthur L Beaudet
Gaucher's disease.
The New England journal of medicine 1987;316(10):619-21.
1987: J Overhauser; Arthur L Beaudet; J J Wasmuth
A highly polymorphic locus in 5p15.2-5p15.3 (213-274EC) revealed by an anonymous single copy DNA fragment.
Nucleic acids research 1987;15(3):1345.
1987: Miriam H Meisler; J E Spence; J E Dixon; R M Caldwell; C D Minth; Arthur L Beaudet
Exclusion of close linkage between the loci for cystic fibrosis and neuropeptide Y on human chromosome 7.
Cytogenetics and cell genetics 1987;44(2-3):175-6.
1986: J E Spence; C L Rosenbloom; William E O'Brien; D K Seilheimer; S Cole; R E Ferrell; R C Stern; Arthur L Beaudet
Linkage of DNA markers to cystic fibrosis in 26 families.
American journal of human genetics 1986;39(6):729-34.
1986: J Overhauser; Arthur L Beaudet; J J Wasmuth
A fine structure physical map of the short arm of chromosome 5.
American journal of human genetics 1986;39(5):562-72.
1986: G E Herman; W E O'Brien; Arthur L Beaudet
An E. coli beta-galactosidase cassette suitable for study of eukaryotic expression.
Nucleic acids research 1986;14(17):7130.
1986: Huda Y Zoghbi; J E Spence; Arthur L Beaudet; W E O'Brien; C J Goodman; K M Gibson
Atypical presentation and neuropathological studies in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Annals of neurology 1986;20(3):367-9.
1986: P A Wood; C A Partridge; W E O'Brien; Arthur L Beaudet
Expression of human argininosuccinate synthetase after retroviral-mediated gene transfer.
Somatic cell and molecular genetics 1986;12(5):493-500.
1986: P T Cagle; G D Ferry; Arthur L Beaudet; Edith P Hawkins
Pulmonary hypertension in an 18-year-old girl with cholesteryl ester storage disease (CESD)
American journal of medical genetics 1986;24(4):711-22.
1986: T Y Ahmad; Arthur L Beaudet; J T Sparrow; Joel D Morrisett
Human lysosomal sphingomyelinase: substrate efficacy of apolipoprotein/sphingomyelin complexes.
Biochemistry 1986;25(15):4415-20.
1986: M J Jackson; W E O'Brien; Arthur L Beaudet
Arginine-mediated regulation of an argininosuccinate synthetase minigene in normal and canavanine-resistant human cells.
Molecular and cellular biology 1986;6(6):2257-61.
1986: F Greenberg; F Stein; M V Gresik; M J Finegold; R J Carpenter; V M Riccardi; Arthur L Beaudet
The Perlman familial nephroblastomatosis syndrome.
American journal of medical genetics 1986;24(1):101-10.
1986: Mark L Batshaw; M Msall; Arthur L Beaudet; J Trojak
Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency.
The Journal of pediatrics 1986;108(2):236-41.
1986: Robert L Nussbaum; B A Boggs; Arthur L Beaudet; S Doyle; J L Potter; W E O'Brien
New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.
American journal of human genetics 1986;38(2):149-58.
1986: M J Jackson; Arthur L Beaudet; W E O'Brien
Mammalian urea cycle enzymes.
Annual review of genetics 1986;20():431-64.
1986: Arthur L Beaudet; W E O'Brien; H G Bock; Svend O Freytag; T S Su
The human argininosuccinate synthetase locus and citrullinemia.
Advances in human genetics 1986;15():161-96, 291-2.
1986: P A Wood; G E Herman; C Y Chao; W E O'Brien; Arthur L Beaudet
Retrovirus-mediated gene transfer of argininosuccinate synthetase into cultured rodent cells and human citrullinemic fibroblasts.
Cold Spring Harbor symposia on quantitative biology 1986;51 Pt 2():1027-32.
1985: J F Hejtmancik; David Ledbetter; Arthur L Beaudet; M M Quigley
A trisomic child after in vitro fertilization: result of paternal nondisjunction.
Fertility and sterility 1985;44(6):830-1.
1985: Arthur L Beaudet
Bibliography of cloned human and other selected DNAs.
American journal of human genetics 1985;37(2):386-406.
1985: K J Matteson; Harry Ostrer; Aravinda Chakravarti; K H Buetow; W E O'Brien; Arthur L Beaudet; J A Phillips
A study of restriction fragment length polymorphisms at the human alpha-1-antitrypsin locus.
Human genetics 1985;69(3):263-7.
1984: T E Gilroy; Arthur L Beaudet; J Yu
A method for analyzing transcription using permeabilized cells.
Analytical biochemistry 1984;143(2):350-60.
1984: T S Su; W E O'Brien; Arthur L Beaudet
Genomic DNA-mediated gene transfer for argininosuccinate synthetase.
Somatic cell and molecular genetics 1984;10(6):601-6.
1984: Svend O Freytag; Arthur L Beaudet; H G Bock; W E O'Brien
Molecular structure of the human argininosuccinate synthetase gene: occurrence of alternative mRNA splicing.
Molecular and cellular biology 1984;4(10):1978-84.
1984: T S Su; Robert L Nussbaum; Susan Airhart; David Ledbetter; T Mohandas; W E O'Brien; Arthur L Beaudet
Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis.
American journal of human genetics 1984;36(5):954-64.
1984: Arthur L Beaudet
DNA blotting for haemophilia B carrier detection: pitfalls in dosage analysis.
Lancet 1984;1(8387):1182.
1984: Svend O Freytag; H G Bock; Arthur L Beaudet; W E O'Brien
Molecular structures of human argininosuccinate synthetase pseudogenes. Evolutionary and mechanistic implications.
The Journal of biological chemistry 1984;259(5):3160-6.
1983: M M Hurt; Arthur L Beaudet; Robb Moses
Stable low molecular weight DNA in xeroderma pigmentosum cells.
Proceedings of the National Academy of Sciences of the United States of America 1983;80(22):6987-91.
1983: H G Bock; T S Su; W E O'Brien; Arthur L Beaudet
Sequence for human argininosuccinate synthetase cDNA.
Nucleic acids research 1983;11(18):6505-12.
1983: M M Hurt; Arthur L Beaudet; Robb Moses
Repair response of human fibroblasts to bleomycin damage.
Mutation research 1983;112(3):181-9.
1983: B H Robinson; J Taylor; B Francois; Arthur L Beaudet; D F Peterson
Lactic acidosis, neurological deterioration and compromised cellular pyruvate oxidation due to a defect in the reoxidation of cytoplasmically generated NADH.
European journal of pediatrics 1983;140(2):98-101.
1983: T S Su; Arthur L Beaudet; W E O'Brien
Abnormal mRNA for argininosuccinate synthetase in citrullinaemia.
Nature 1983;301(5900):533-4.
1983: V V Michels; Arthur L Beaudet
Treatment of OTC deficiency.
The Journal of pediatrics 1983;102(2):321.
1982: T S Su; H G Bock; Arthur L Beaudet; W E O'Brien
Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts.
The Journal of clinical investigation 1982;70(6):1334-9.
1982: V V Michels; E Potts; M Walser; Arthur L Beaudet
Ornithine transcarbamylase deficiency: long-term survival.
Clinical genetics 1982;22(4):211-4.
1982: Arthur L Beaudet; T S Su; W E O'Brien; P D'Eustachio; Peter Barker; F H Ruddle
Dispersion of argininosuccinate-synthetase-like human genes to multiple autosomes and the X chromosome.
Cell 1982;30(1):287-93.
1982: Arthur L Beaudet; A A Manschreck
Metabolism of sphingomyelin by intact cultured fibroblasts: differentiation of Niemann-Pick disease type A and B.
Biochemical and biophysical research communications 1982;105(1):14-9.
1982: V V Michels; Arthur L Beaudet; V E Potts; C M Montandon
Glycogen storage disease: long-term follow-up of nocturnal intragastric feeding.
Clinical genetics 1982;21(2):136-40.
1981: A J Alpert; Arthur L Beaudet
Apolipoprotein C-III-1 activates lysosomal sphingomyelinase in vitro.
The Journal of clinical investigation 1981;68(6):1592-6.
1981: T S Su; H G Bock; W E O'Brien; Arthur L Beaudet
Cloning of cDNA for argininosuccinate synthetase mRNA and study of enzyme overproduction in a human cell line.
The Journal of biological chemistry 1981;256(22):11826-31.
1981: T S Su; Arthur L Beaudet; W E O'Brien
Increased translatable messenger ribonucleic acid for argininosuccinate synthetase in canavanine-resistant human cells.
Biochemistry 1981;20(10):2956-60.
1981: M M Hurt; Arthur L Beaudet; Robb Moses
Repair of Bleomycin-damaged DNA by human fibroblasts.
Journal of supramolecular structure and cellular biochemistry 1981;16(4):303-9.
1980: Arthur L Beaudet; M S Hampton; K Patel; J T Sparrow
Acidic phospholipases in cultured human fibroblasts: deficiency of phospholipase C in Niemann-Pick disease.
Clinica chimica acta; international journal of clinical chemistry 1980;108(3):403-14.
1980: Arthur L Beaudet; D C Anderson; V V Michels; WJ Arion; A J Lange
Neutropenia and impaired neutrophil migration in type IB glycogen storage disease.
The Journal of pediatrics 1980;97(6):906-10.
1980: A J Lange; WJ Arion; Arthur L Beaudet
Type Ib glycogen storage disease is caused by a defect in the glucose-6-phosphate translocase of the microsomal glucose-6-phosphatase system.
The Journal of biological chemistry 1980;255(18):8381-4.
1980: V V Michels; Arthur L Beaudet
Hemorrhagic pancreatitis in a patient with glycogen storage disease type I.
Clinical genetics 1980;17(3):220-2.
1980: V V Michels; Arthur L Beaudet
Cholesteryl lignocerate hydrolysis in adrenoleukodystrophy.
Pediatric research 1980;14(1):21-3.
1979: V V Michels; D J Driscoll; G D Ferry; D F Duff; Arthur L Beaudet
Pulmonary vascular obstruction associated with cholesteryl ester storage disease.
The Journal of pediatrics 1979;94(4):621-3.
1979: D V Hatton; C S Leach; Arthur L Beaudet; R O Dillman; N Di Ferrante
Collagen breakdown and ammonia inhalation.
Archives of environmental health 1979;34(2):83-7.
1978: B J Dabney; Arthur L Beaudet
Stimulation of protein synthesis by hemin in extracts of Friend erythroleukemia cells.
The Journal of biological chemistry 1978;253(20):7124-6.
1978: V V Michels; H M Hittner; Arthur L Beaudet
A clefting syndrome with ocular anterior chamber defect and lid anomalies.
The Journal of pediatrics 1978;93(3):444-6.
1978: Arthur L Beaudet
Genetic diagnostic studies for mental retardation.
Current problems in pediatrics 1978;8(5):1-47.
1978: Arthur L Beaudet; C T Caskey
Detection of Fabry's disease heterozygotes by hair root analysis.
Clinical genetics 1978;13(3):251-8.
1978: Robb Moses; Arthur L Beaudet
Apurinic DNA endonuclease activities in repair-deficient human cell lines.
Nucleic acids research 1978;5(2):463-73.
1978: V V Michels; Arthur L Beaudet
Arginase deficiency in multiple tissues in argininemia.
Clinical genetics 1978;13(1):61-7.
1977: M M Richardson; Arthur L Beaudet; M L Wagner; S Malini; H S Rosenberg; J A Lucci
Prenatal diagnosis of recurrence of Saldino-Noonan dwarfism.
The Journal of pediatrics 1977;91(3):467-71.
1977: Arthur L Beaudet; G D Ferry; B L Nichols; H S Rosenberg
Cholesterol ester storage disease: clinical, biochemical, and pathological studies.
The Journal of pediatrics 1977;90(6):910-4.
1977: B J Dabney; Arthur L Beaudet
Increase in globin chains and globin mRNA in erythroleukemia cells in response to hemin.
Archives of biochemistry and biophysics 1977;179(1):106-12.
1976: D K Broadwell; Arthur L Beaudet
Letter: Interference of radiopaque dyes with the 2,4-dinitrophenylhydrazine test.
The Journal of pediatrics 1976;89(1):156-7.
1976: Arthur L Beaudet; B L Nichols
Residual altered alpha-mannosidase in human mannosidosis.
Biochemical and biophysical research communications 1976;68(1):292-8.
1976: A L Murphree; Arthur L Beaudet; Earl A Palmer; B L Nichols
Cataract in mannosidosis.
Birth defects original article series 1976;12(3):319-34.
1975: Joseph L Goldstein; S E Dana; J R Faust; Arthur L Beaudet; Michael S Brown
Role of lysosomal acid lipase in the metabolism of plasma low density lipoprotein. Observations in cultured fibroblasts from a patient with cholesteryl ester storage disease.
The Journal of biological chemistry 1975;250(21):8487-95.
1975: Arthur L Beaudet; N M DiFerrante; G D Ferry; B L Nichols; C E Mullins
Variation in the phenotypic expression of beta-glucuronidase deficiency.
The Journal of pediatrics 1975;86(3):388-94.
1974: Arthur L Beaudet; M H Lipson; G D Ferry; B L Nichols
Acid lipase in cultured fibroblasts: cholesterol ester storage disease.
The Journal of laboratory and clinical medicine 1974;84(1):54-61.
1974: C T Caskey; Arthur L Beaudet; W P Tate
Mammalian release factor; in vitro assay and purification.
Methods in enzymology 1974;30():293-303.
1974: Arthur L Beaudet; N M Ferrante; G D Ferry; B L Nichols
Beta-glucuronidase deficiency (mucopolysaccharidosis type VII).
Birth defects original article series 1974;10(12):246-50.
1973: W P Tate; Arthur L Beaudet; C T Caskey
Influence of guanine nucleotides and elongation factors on interaction of release factors with the ribosome.
Proceedings of the National Academy of Sciences of the United States of America 1973;70(8):2350-5.
1973: Arthur L Beaudet; D J Roufa; C T Caskey
Mutations affecting the structure of hypoxanthine: guanine phosphoribosyltransferase in cultured Chinese hamster cells.
Proceedings of the National Academy of Sciences of the United States of America 1973;70(2):320-4.
1972: F D Gillin; D J Roufa; Arthur L Beaudet; C T Caskey
8-Azaguanine resistance in mammalian cells. I. Hypoxanthine-guanine phosphoribosyltransferase.
Genetics 1972;72(2):239-52.
1971: C T Caskey; Arthur L Beaudet; E M Scolnick; M Rosman
Hydrolysis of fMet-tRNA by peptidyl transferase.
Proceedings of the National Academy of Sciences of the United States of America 1971;68(12):3163-7.
1971: Arthur L Beaudet; C T Caskey
Mammalian peptide chain termination. II. Codon specificity and GTPase activity of release factor.
Proceedings of the National Academy of Sciences of the United States of America 1971;68(3):619-24.
1970: J L Goldstein; Arthur L Beaudet; C T Caskey
Peptide chain termination with mammalian release factor.
Proceedings of the National Academy of Sciences of the United States of America 1970;67(1):99-106.
1970: Arthur L Beaudet; C T Caskey
Release factor translation of RNA phage terminator codons.
Nature 1970;227(5253):38-40.