المؤلفون: Need, AC, McEvoy, JP, Gennarelli, M, Heinzen, EL, Ge, DL, Maia, JM, Shianna, KV, He, M, Cirulli, ET, Gumbs, CE, Zhao, Q, Campbell, CR, Hong, L, Rosenquist, P, Putkonen, A, Hallikainen, T, Repo-Tiihonen, E, Tiihonen, J, Levy, DL, Meltzer, HY, Goldstein, DB

المصدر: American journal of human genetics. 91(2):303-312

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:125072836

المؤلفون: Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E, European Alternating Hemiplegia of Childhood Genetics Consortium, Neri G, Koelewijn S, Kamphorst J, Geilenkirchen M, Pelzer N, Laan L, Haan J, Ferrari M, van den Maagdenberg A, Biobanca e. Registro Clinico per l'Emiplegia Alternante Consortium, Zucca C, Bassi MT, Franchini F, Vavassori R, Giannotta M, Gobbi G, Granata T, Nardocci N, De Grandis E, Veneselli E, Stagnaro M, Vigevano F, European Network for Research on Alternating Hemiplegia for Small, Medium sized Enterpriese Consortium, Oechsler C, Arzimanoglou A, Ninan M, Neville B, Ebinger F, Fons C, Campistol J, Kemlink D, Nevsimalova S, Peeters Scholte C, Casaer P, Sange G, Spiel G, Martinelli Boneschi F, Schyns T, Crawley F, Poncelin D, Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein D.B., CASARI , GIORGIO NEVIO

المساهمون: Heinzen, El, Swoboda, Kj, Hitomi, Y, Gurrieri, F, Nicole, S, de Vries, B, Tiziano, Fd, Fontaine, B, Walley, Nm, Heavin, S, Panagiotakaki, E, European Alternating Hemiplegia of Childhood Genetics, Consortium, Neri, G, Koelewijn, S, Kamphorst, J, Geilenkirchen, M, Pelzer, N, Laan, L, Haan, J, Ferrari, M, van den Maagdenberg, A, Biobanca e., Registro Clinico per l'Emiplegia Alternante Consortium, Zucca, C, Bassi, Mt, Franchini, F, Vavassori, R, Giannotta, M, Gobbi, G, Granata, T, Nardocci, N, De Grandis, E, Veneselli, E, Stagnaro, M, Vigevano, F, European Network for Research on Alternating Hemiplegia for, Small, Medium sized Enterpriese, Consortium, Oechsler, C, Arzimanoglou, A, Ninan, M, Neville, B, Ebinger, F, Fons, C, Campistol, J, Kemlink, D, Nevsimalova, S, Peeters Scholte, C, Casaer, P, Casari, GIORGIO NEVIO, Sange, G, Spiel, G, Martinelli Boneschi, F, Schyns, T, Crawley, F, Poncelin, D, Fiori, S, Abiusi, E, Di Pietro, L, Sweney, Mt, Newcomb, Tm, Viollet, L, Huff, C, Jorde, Lb, Reyna, Sp, Murphy, Kj, Shianna, Kv, Gumbs, Ce, Little, L, Silver, K, Ptáček, Lj, Ferrari, Md, Bye, Am, Herkes, Gk, Whitelaw, Cm, Webb, D, Lynch, Bj, Uldall, P, King, Md, Scheffer, Ie, van den Maagdenberg, Am, Sisodiya, Sm, Mikati, Ma, Goldstein, D. B.

المصدر: Nature Genetics, 44(9), 1030
Nature genetics

مصطلحات موضوعية: Nonsynonymous substitution, Genetics, 0303 health sciences, Mutation, Alternating hemiplegia of childhood, Neurological disorder, Biology, Settore MED/03 - GENETICA MEDICA, medicine.disease, medicine.disease_cause, Alternating Hemiplegia, Article, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, ATP1A3, medicine, Etiology, 030217 neurology & neurosurgery, Alternating hemiplegia, Exome sequencing, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5340c120e42b07a60df6c472c9cc43da

المؤلفون: Heinzen EL; Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708, USA. e.heinzen@duke.edu, Depondt C, Cavalleri GL, Ruzzo EK, Walley NM, Need AC, Ge D, He M, Cirulli ET, Zhao Q, Cronin KD, Gumbs CE, Campbell CR, Hong LK, Maia JM, Shianna KV, McCormack M, Radtke RA, O'Conner GD, Mikati MA, Gallentine WB, Husain AM, Sinha SR, Chinthapalli K, Puranam RS, McNamara JO, Ottman R, Sisodiya SM, Delanty N, Goldstein DB

المصدر: American journal of human genetics [Am J Hum Genet] 2012 Aug 10; Vol. 91 (2), pp. 293-302. Date of Electronic Publication: 2012 Aug 02.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy, Generalized/*genetics , Exome/*genetics , Genetic Predisposition to Disease/*genetics, Base Sequence ; Genome-Wide Association Study ; Genotype ; Humans ; Molecular Sequence Data ; Sequence Alignment ; Sequence Analysis, DNA ; White People/genetics

المؤلفون: Hitomi Y; Center for Human Genome Variation, School of Medicine, Duke University, Durham, North Carolina, USA., Cirulli ET, Fellay J, McHutchison JG, Thompson AJ, Gumbs CE, Shianna KV, Urban TJ, Goldstein DB

المصدر: Gastroenterology [Gastroenterology] 2011 Apr; Vol. 140 (4), pp. 1314-21. Date of Electronic Publication: 2011 Jan 01.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 0374630 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-0012 (Electronic) Linking ISSN: 00165085 NLM ISO Abbreviation: Gastroenterology Subsets: MEDLINE

مواضيع طبية MeSH: Anemia*/chemically induced , Anemia*/metabolism , Anemia*/prevention & control, Adenylosuccinate Synthase/*metabolism , Erythrocytes/*drug effects , Hepatitis C, Chronic/*drug therapy , Inosine Triphosphate/*pharmacology , Ribavirin/*toxicity, Adenosine Triphosphate/biosynthesis ; Adenosine Triphosphate/metabolism ; Adolescent ; Adult ; Antiviral Agents/toxicity ; Enzyme Activation/drug effects ; Erythrocytes/enzymology ; Genetic Variation ; Genotype ; Guanosine Triphosphate/metabolism ; Hepatitis C, Chronic/genetics ; Hepatitis C, Chronic/metabolism ; Humans ; In Vitro Techniques ; Pyrophosphatases/genetics ; Pyrophosphatases/metabolism ; Young Adult ; Inosine Triphosphatase

المؤلفون: Pelak K; Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, United States of America., Shianna KV, Ge D, Maia JM, Zhu M, Smith JP, Cirulli ET, Fellay J, Dickson SP, Gumbs CE, Heinzen EL, Need AC, Ruzzo EK, Singh A, Campbell CR, Hong LK, Lornsen KA, McKenzie AM, Sobreira NL, Hoover-Fong JE, Milner JD, Ottman R, Haynes BF, Goedert JJ, Goldstein DB

المصدر: PLoS genetics [PLoS Genet] 2010 Sep 09; Vol. 6 (9), pp. e1001111. Date of Electronic Publication: 2010 Sep 09.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: Electronic Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

مواضيع طبية MeSH: Sequence Analysis, DNA*, Genome, Human/*genetics, Base Sequence ; Case-Control Studies ; DNA Copy Number Variations/genetics ; Databases, Genetic ; Exons/genetics ; Factor VIII/genetics ; Gene Duplication/genetics ; Gene Knockout Techniques ; Genetics, Population ; Genotype ; Hemophilia A/genetics ; Humans ; INDEL Mutation/genetics ; Oligonucleotide Array Sequence Analysis ; Open Reading Frames/genetics ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide/genetics

المؤلفون: Sobreira NL; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM, Gumbs CE, Pevsner J, Thomas G, Valle D, Hoover-Fong JE, Goldstein DB

المصدر: PLoS genetics [PLoS Genet] 2010 Jun 17; Vol. 6 (6), pp. e1000991. Date of Electronic Publication: 2010 Jun 17.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: Electronic Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Linkage* , Genetic Predisposition to Disease* , Genome, Human*, Protein Tyrosine Phosphatase, Non-Receptor Type 11/*genetics, Exons ; Female ; Genome-Wide Association Study ; Humans ; Male ; Mutation ; Pedigree ; Sequence Analysis, DNA

المؤلفون: Heinzen EL; Center for Human Genome Variation, School of Medicine, Duke University, Durham, NC 27708, USA., Radtke RA, Urban TJ, Cavalleri GL, Depondt C, Need AC, Walley NM, Nicoletti P, Ge D, Catarino CB, Duncan JS, Kasperaviciūte D, Tate SK, Caboclo LO, Sander JW, Clayton L, Linney KN, Shianna KV, Gumbs CE, Smith J, Cronin KD, Maia JM, Doherty CP, Pandolfo M, Leppert D, Middleton LT, Gibson RA, Johnson MR, Matthews PM, Hosford D, Kälviäinen R, Eriksson K, Kantanen AM, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Wieser HG, Zumsteg D, Ortega M, Wood NW, Huxley-Jones J, Mikati M, Gallentine WB, Husain AM, Buckley PG, Stallings RL, Podgoreanu MV, Delanty N, Sisodiya SM, Goldstein DB

المصدر: American journal of human genetics [Am J Hum Genet] 2010 May 14; Vol. 86 (5), pp. 707-18. Date of Electronic Publication: 2010 Apr 15.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomes, Human, Pair 16* , Disease Susceptibility* , Mutation* , Sequence Deletion*, Epilepsy/*genetics, Humans ; Nucleic Acid Hybridization/genetics ; Syndrome

المؤلفون: Fellay J; Institute for Genome Sciences & Policy, Center for Human Genome Variation, Duke University, Durham, North Carolina 27708, USA., Thompson AJ, Ge D, Gumbs CE, Urban TJ, Shianna KV, Little LD, Qiu P, Bertelsen AH, Watson M, Warner A, Muir AJ, Brass C, Albrecht J, Sulkowski M, McHutchison JG, Goldstein DB

المصدر: Nature [Nature] 2010 Mar 18; Vol. 464 (7287), pp. 405-8. Date of Electronic Publication: 2010 Feb 21.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

مواضيع طبية MeSH: Anemia, Hemolytic/*chemically induced , Anemia, Hemolytic/*genetics , Genetic Variation/*genetics , Hepatitis C, Chronic/*drug therapy , Pyrophosphatases/*genetics, Alleles ; Anemia, Hemolytic/complications ; Antiviral Agents ; Chromosomes, Human, Pair 20 ; Europe/ethnology ; Genome-Wide Association Study ; Hemoglobins/deficiency ; Hemoglobins/metabolism ; Hepatitis C, Chronic/complications ; Humans ; Polymorphism, Single Nucleotide/genetics ; Pyrophosphatases/deficiency ; Pyrophosphatases/metabolism ; Racial Groups/genetics ; Ribavirin/therapeutic use ; United States ; Inosine Triphosphatase

المؤلفون: Fellay J; Center for Human Genome Variation, Duke Institute for Genome Sciences and Policy, Duke University, Durham, North Carolina, USA., Ge D, Shianna KV, Colombo S, Ledergerber B, Cirulli ET, Urban TJ, Zhang K, Gumbs CE, Smith JP, Castagna A, Cozzi-Lepri A, De Luca A, Easterbrook P, Günthard HF, Mallal S, Mussini C, Dalmau J, Martinez-Picado J, Miro JM, Obel N, Wolinsky SM, Martinson JJ, Detels R, Margolick JB, Jacobson LP, Descombes P, Antonarakis SE, Beckmann JS, O'Brien SJ, Letvin NL, McMichael AJ, Haynes BF, Carrington M, Feng S, Telenti A, Goldstein DB

مؤلفون مشاركون: NIAID Center for HIV/AIDS Vaccine Immunology (CHAVI)

المصدر: PLoS genetics [PLoS Genet] 2009 Dec; Vol. 5 (12), pp. e1000791. Date of Electronic Publication: 2009 Dec 24.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Variation*, HIV-1/*physiology, Adult ; Alleles ; Disease Progression ; Female ; Genotype ; HIV Infections/virology ; Humans ; Kaplan-Meier Estimate ; Major Histocompatibility Complex/genetics ; Male ; Phenotype ; Polymorphism, Single Nucleotide/genetics ; Viral Load

المؤلفون: Need AC; Institute for Genome Sciences and Policy, Center for Population Genomics and Pharmacogenetics, Duke University, Durham, North Carolina 27710, USA., Attix DK, McEvoy JM, Cirulli ET, Linney KN, Wagoner AP, Gumbs CE, Giegling I, Möller HJ, Francks C, Muglia P, Roses A, Gibson G, Weale ME, Rujescu D, Goldstein DB

المصدر: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Genet] 2008 Jul 05; Vol. 147B (5), pp. 667-8.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235742 Publication Model: Print Cited Medium: Internet ISSN: 1552-485X (Electronic) Linking ISSN: 15524841 NLM ISO Abbreviation: Am J Med Genet B Neuropsychiatr Genet Subsets: MEDLINE

مواضيع طبية MeSH: Memory/*physiology , Proteins/*genetics, Cohort Studies ; Europe ; Humans ; Intracellular Signaling Peptides and Proteins ; Phosphoproteins ; Polymorphism, Single Nucleotide ; Proteins/physiology ; Reproducibility of Results ; White People