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Sarah Elsea
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Network (preview)
14
Girirajan, Santhosh
12
Patel, Pragna
9
Vlangos, Christopher
4
Lupski, James
3
Magenis, Ellen
3
Bunyan, David
3
Finucane, Brenda
3
Das, P
3
Smith, Ann
2
Sun, Duxin
2
Lucas, Rebecca
2
Gropman, Andrea
2
Baldini, Antonio
2
Blancato, Jan
2
Fritz, Eberhard
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Geonetwork of Sarah Elsea (preview)
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All Publications
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2009: Girirajan Santhosh; Elsea Sarah H
Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice.
European journal of medical genetics 2009;52(4):224-8.
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2009: Girirajan Santhosh; Elsea Sarah H
Abnormal maternal behavior, altered sociability, and impaired serotonin metabolism in Rai1-transgenic mice.
Mammalian genome : official journal of the International Mammalian Genome Society 2009;20(4):247-55.
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2009: Girirajan S; Truong H T; Blanchard C L; Elsea S H
A functional network module for Smith-Magenis syndrome.
Clinical genetics 2009;75(4):364-74.
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2008: Girirajan Santhosh; Patel Nisha; Slager Rebecca E; Tokarz Mary E; Bucan Maja; Wiley Jenny L; Elsea Sarah H
How much is too much? Phenotypic consequences of Rai1 overexpression in mice.
European journal of human genetics : EJHG 2008;16(8):941-54.
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2008: Girirajan Santhosh; Hauck Paula M; Williams Stephen; Vlangos Christopher N; Szomju Barbara B; Solaymani-Kohal Sara; Mosier Philip D; White Kimber L; McCoy Kathleen; Elsea Sarah H
Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response.
Mammalian genome : official journal of the International Mammalian Genome Society 2008;19(4):246-62.
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2008: Elsea Sarah H; Girirajan Santhosh
Smith-Magenis syndrome.
European journal of human genetics : EJHG 2008;16(4):412-21.
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2008: Truong Hoa T; Solaymani-Kohal Sara; Baker Kevin R; Girirajan Santhosh; Williams Stephen R; Vlangos Christopher N; Smith Ann C M; Bunyan David J; Roffey Paul E; Blanchard Christopher L; Elsea Sarah H
Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR.
Genetic testing 2008;12(1):67-73.
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2008: Nakamine Alisa; Ouchanov Leonid; Jiménez Patricia; Manghi Elina R; Esquivel Marcela; Monge Silvia; Fallas Marietha; Burton Barbara K; Szomju Barbara; Elsea Sarah H; Marshall Christian R; Scherer Stephen W; McInnes L Alison
Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.
American journal of medical genetics. Part A 2008;146A(5):636-43.
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2007: Girirajan S; Williams S R; Garbern J Y; Nowak N; Hatchwell E; Elsea S H
17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.
Clinical genetics 2007;72(1):47-58.
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2007: Edelman E A; Girirajan S; Finucane B; Patel P I; Lupski J R; Smith A C M; Elsea S H
Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.
Clinical genetics 2007;71(6):540-50.
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2007: Girirajan Santhosh; Mendoza-Londono Roberto; Vlangos Christopher N; Dupuis Lucie; Nowak Norma J; Bunyan David J; Hatchwell Eli; Elsea Sarah H
Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1).
American journal of medical genetics. Part A 2007;143A(9):999-1008.
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2007: Gropman Andrea L; Elsea Sarah; Duncan Wallace C; Smith Ann C M
New developments in Smith-Magenis syndrome (del 17p11.2).
Current opinion in neurology 2007;20(2):125-34.
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2006: Bi Weimin; Saifi G Mustafa; Girirajan Santhosh; Shi Xin; Szomju Barbara; Firth Helen; Magenis R Ellen; Potocki Lorraine; Elsea Sarah H; Lupski James R
RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.
American journal of medical genetics. Part A 2006;140(22):2454-63.
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2006: Girirajan Santhosh; Vlangos Christopher N; Szomju Barbara B; Edelman Emily; Trevors Christopher D; Dupuis Lucie; Nezarati Marjan; Bunyan David J; Elsea Sarah H
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(7):417-27.
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2005: Girirajan S; Elsas L J; Devriendt K; Elsea S H
RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.
Journal of medical genetics 2005;42(11):820-8.
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2005: Girirajan Santhosh; Elsea Sarah H
Brachydactyly A1: new relatives for old families?
Journal of genetics 2005;84(2):95-8.
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2005: Vlangos Christopher N; Wilson Meredith; Blancato Jan; Smith Ann C M; Elsea Sarah H
Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene.
American journal of medical genetics. Part A 2005;132A(3):278-82.
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2005: Smith Ann C M; Magenis R Ellen; Elsea Sarah H
Overview of Smith-Magenis syndrome.
Journal of the Association of Genetic Technologists 2005;31(4):163-7.
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2005: Barry Elizabeth; Derhammer Teresa; Elsea Sarah H
Prevalence of three hereditary hemochromatosis mutant alleles in the Michigan Caucasian population.
Community genetics 2005;8(3):173-9.
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2003: Vlangos Christopher N; Yim Dwight K C; Elsea Sarah H
Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?
Molecular genetics and metabolism 2003;79(2):134-41.
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2003: Slager Rebecca E; Newton Tiffany Lynn; Vlangos Christopher N; Finucane Brenda; Elsea Sarah H
Mutations in RAI1 associated with Smith-Magenis syndrome.
Nature genetics 2003;33(4):466-8.
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2002: Smith Ann C M; Gropman Andrea L; Bailey-Wilson Joan E; Goker-Alpan Ozlem; Elsea Sarah H; Blancato Jan; Lupski James R; Potocki Lorraine
Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2).
Genetics in medicine : official journal of the American College of Medical Genetics 2002;4(3):118-25.
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2002: Elsea Sarah H; Lucas Rebecca E
The mousetrap: what we can learn when the mouse model does not mimic the human disease.
ILAR journal / National Research Council, Institute of Laboratory Animal Resources 2002;43(2):66-79.
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2001: Lucas R E; Vlangos C N; Das P; Patel P I; Elsea S H
Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis.
European journal of human genetics : EJHG 2001;9(12):892-902.
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2000: Vlangos C N; Das P; Patel P I; Elsea S H
Assignment of developmentally regulated GTP-binding protein (DRG2) to human chromosome band 17p11.2 with somatic cell hybrids and localization to the Smith-Magenis syndrome critical interval.
Cytogenetics and cell genetics 2000;88(3-4):283-5.
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1999: Elsea S H; Mykytyn K; Ferrell K; Coulter K L; Das P; Dubiel W; Patel P I; Metherall J E
Hemizygosity for the COP9 signalosome subunit gene, SGN3, in the Smith-Magenis syndrome.
American journal of medical genetics 1999;87(4):342-8.
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1999: Elsea S H; Clark I B; Juyal R C; Meyer D J; Meyer D I; Patel P I
Assignment of beta-centractin (CTRN2) to human chromosome 2 bands q11.1-->q11.2 with somatic cell hybrids and in situ hybridization.
Cytogenetics and cell genetics 1999;84(1-2):48-9.
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1998: Sun D; McDonnell M; Chen X S; Lakkis M M; Li H; Isaacs S N; Elsea S H; Patel P I; Funk C D
Human 12(R)-lipoxygenase and the mouse ortholog. Molecular cloning, expression, and gene chromosomal assignment.
The Journal of biological chemistry 1998;273(50):33540-7.
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1998: Elsea S H; Fritz E; Schoener-Scott R; Meyn M S; Patel P I
Gene for topoisomerase III maps within the Smith-Magenis syndrome critical region: analysis of cell-cycle distribution and radiation sensitivity.
American journal of medical genetics 1998;75(1):104-8.
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1998: Sun D; Elsea S H; Patel P I; Funk C D
Cloning of a human "epidermal-type" 12-lipoxygenase-related gene and chromosomal localization to 17p13.
Cytogenetics and cell genetics 1998;81(1):79-82.
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1997: Fritz E; Elsea S H; Patel P I; Meyn M S
Overexpression of a truncated human topoisomerase III partially corrects multiple aspects of the ataxia-telangiectasia phenotype.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(9):4538-42.
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1997: Elsea S H; Purandare S M; Adell R A; Juyal R C; Davis J G; Finucane B; Magenis R E; Patel P I
Definition of the critical interval for Smith-Magenis syndrome.
Cytogenetics and cell genetics 1997;79(3-4):276-81.
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1996: Juyal R C; Figuera L E; Hauge X; Elsea S H; Lupski J R; Greenberg F; Baldini A; Patel P I
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.
American journal of human genetics 1996;58(5):998-1007.
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1995: Elsea S H; Juyal R C; Jiralerspong S; Finucane B M; Pandolfo M; Greenberg F; Baldini A; Stover P; Patel P I
Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome.
American journal of human genetics 1995;57(6):1342-50.
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