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1
A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency
A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency
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A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency

Zhou, Qing ; Lee, Geun-Shik ; Brady, Jillian ; Datta, Shrimati ; Katan, Matilda ; Sheikh, Afzal ; Martins, Marta S ; Bunney, Tom D ; Santich, Brian H ; Moir, Susan ; Kuhns, Douglas B ; Long Priel, Debra A ; Ombrello, Amanda ; Stone, Deborah ; Ombrello, Michael J ; Khan, Javed ; Milner, Joshua D ; Kastner, Daniel L ; Aksentijevich, Ivona

American journal of human genetics, 2012-10, Vol.91 (4), p.713-720 [Periódico revisado por pares]

United States: Elsevier

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2
Replication of Putative Candidate-Gene Associations with Rheumatoid Arthritis in >4,000 Samples from North America and Sweden: Association of Susceptibility with PTPN22, CTLA4, and PADI4
Replication of Putative Candidate-Gene Associations with Rheumatoid Arthritis in >4,000 Samples from North America and Sweden: Association of Susceptibility with PTPN22, CTLA4, and PADI4
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Replication of Putative Candidate-Gene Associations with Rheumatoid Arthritis in >4,000 Samples from North America and Sweden: Association of Susceptibility with PTPN22, CTLA4, and PADI4

Plenge, Robert M. ; Padyukov, Leonid ; Remmers, Elaine F. ; Purcell, Shaun ; Lee, Annette T. ; Karlson, Elizabeth W. ; Wolfe, Frederick ; Kastner, Daniel L. ; Alfredsson, Lars ; Altshuler, David ; Gregersen, Peter K. ; Klareskog, Lars ; Rioux, John D.

American journal of human genetics, 2005-12, Vol.77 (6), p.1044-1060 [Periódico revisado por pares]

United States: Elsevier Inc

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3
The Tumor-Necrosis-Factor Receptor–Associated Periodic Syndrome: New Mutations in TNFRSF1A, Ancestral Origins, Genotype-Phenotype Studies, and Evidence for Further Genetic Heterogeneity of Periodic Fevers
The Tumor-Necrosis-Factor Receptor–Associated Periodic Syndrome: New Mutations in TNFRSF1A, Ancestral Origins, Genotype-Phenotype Studies, and Evidence for Further Genetic Heterogeneity of Periodic Fevers
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The Tumor-Necrosis-Factor Receptor–Associated Periodic Syndrome: New Mutations in TNFRSF1A, Ancestral Origins, Genotype-Phenotype Studies, and Evidence for Further Genetic Heterogeneity of Periodic Fevers

Aksentijevich, Ivona ; Galon, Jérôme ; Soares, Miguel ; Mansfield, Elizabeth ; Hull, Keith ; Oh, Hye-Hyun ; Goldbach-Mansky, Raphaela ; Dean, Jane ; Athreya, Balu ; Reginato, Antonio J. ; Henrickson, Michael ; Pons-Estel, Bernardo ; O’Shea, John J. ; Kastner, Daniel L.

American journal of human genetics, 2001-08, Vol.69 (2), p.301-314 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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4
PTPN22 Genetic Variation: Evidence for Multiple Variants Associated with Rheumatoid Arthritis
PTPN22 Genetic Variation: Evidence for Multiple Variants Associated with Rheumatoid Arthritis
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PTPN22 Genetic Variation: Evidence for Multiple Variants Associated with Rheumatoid Arthritis

Carlton, Victoria E.H. ; Hu, Xiaolan ; Chokkalingam, Anand P. ; Schrodi, Steven J. ; Brandon, Rhonda ; Alexander, Heather C. ; Chang, Monica ; Catanese, Joseph J. ; Leong, Diane U. ; Ardlie, Kristin G. ; Kastner, Daniel L. ; Seldin, Michael F. ; Criswell, Lindsey A. ; Gregersen, Peter K. ; Beasley, Ellen ; Thomson, Glenys ; Amos, Christopher I. ; Begovich, Ann B.

American journal of human genetics, 2005-10, Vol.77 (4), p.567-581 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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5
A Genomewide Screen in Multiplex Rheumatoid Arthritis Families Suggests Genetic Overlap with Other Autoimmune Diseases
A Genomewide Screen in Multiplex Rheumatoid Arthritis Families Suggests Genetic Overlap with Other Autoimmune Diseases
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A Genomewide Screen in Multiplex Rheumatoid Arthritis Families Suggests Genetic Overlap with Other Autoimmune Diseases

Jawaheer, Damini ; Seldin, Michael F. ; Amos, Christopher I. ; Chen, Wei V. ; Shigeta, Russell ; Monteiro, Joanita ; Kern, Marlene ; Criswell, Lindsey A. ; Albani, Salvatore ; Nelson, J. Lee ; Clegg, Daniel O. ; Pope, Richard ; Schroeder, Harry W. ; Bridges, S. Louis ; Pisetsky, David S. ; Ward, Ryk ; Kastner, Daniel L. ; Wilder, Ronald L. ; Pincus, Theodore ; Callahan, Leigh F. ; Flemming, Donald ; Wener, Mark H. ; Gregersen, Peter K.

American journal of human genetics, 2001-04, Vol.68 (4), p.927-936 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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6
Mutation and Haplotype Studies of Familial Mediterranean Fever Reveal New Ancestral Relationships and Evidence for a High Carrier Frequency with Reduced Penetrance in the Ashkenazi Jewish Population
Mutation and Haplotype Studies of Familial Mediterranean Fever Reveal New Ancestral Relationships and Evidence for a High Carrier Frequency with Reduced Penetrance in the Ashkenazi Jewish Population
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Mutation and Haplotype Studies of Familial Mediterranean Fever Reveal New Ancestral Relationships and Evidence for a High Carrier Frequency with Reduced Penetrance in the Ashkenazi Jewish Population

Aksentijevich, Ivona ; Torosyan, Yelizaveta ; Samuels, Jonathan ; Centola, Michael ; Pras, Elon ; Chae, Jae Jin ; Oddoux, Carole ; Wood, Geryl ; Azzaro, Maria Pia ; Palumbo, Giuseppe ; Giustolisi, Rosario ; Pras, Mordechai ; Ostrer, Harry ; Kastner, Daniel L.

American journal of human genetics, 1999-04, Vol.64 (4), p.949-962 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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7
A Missense Single-Nucleotide Polymorphism in a Gene Encoding a Protein Tyrosine Phosphatase ( PTPN22) Is Associated with Rheumatoid Arthritis
A Missense Single-Nucleotide Polymorphism in a Gene Encoding a Protein Tyrosine Phosphatase ( PTPN22) Is Associated with Rheumatoid Arthritis
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A Missense Single-Nucleotide Polymorphism in a Gene Encoding a Protein Tyrosine Phosphatase ( PTPN22) Is Associated with Rheumatoid Arthritis

Begovich, Ann B. ; Carlton, Victoria E.H. ; Honigberg, Lee A. ; Schrodi, Steven J. ; Chokkalingam, Anand P. ; Alexander, Heather C. ; Ardlie, Kristin G. ; Huang, Qiqing ; Smith, Ashley M. ; Spoerke, Jill M. ; Conn, Marion T. ; Chang, Monica ; Chang, Sheng-Yung P. ; Saiki, Randall K. ; Catanese, Joseph J. ; Leong, Diane U. ; Garcia, Veronica E. ; McAllister, Linda B. ; Jeffery, Douglas A. ; Lee, Annette T. ; Batliwalla, Franak ; Remmers, Elaine ; Criswell, Lindsey A. ; Seldin, Michael F. ; Kastner, Daniel L. ; Amos, Christopher I. ; Sninsky, John J. ; Gregersen, Peter K.

American journal of human genetics, 2004-08, Vol.75 (2), p.330-337 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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8
Molecular analysis of cystinuria in Libyan Jews: Exclusion of the SLC3A1 gene and mapping of a new locus on 19q
Molecular analysis of cystinuria in Libyan Jews: Exclusion of the SLC3A1 gene and mapping of a new locus on 19q
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Molecular analysis of cystinuria in Libyan Jews: Exclusion of the SLC3A1 gene and mapping of a new locus on 19q

WARTENFELD, R ; GOLOMB, E ; KATZ, G ; BALE, S. J ; GOLDMAN, B ; PRAS, M ; KASTNER, D. L ; PRAS, E

American journal of human genetics, 1997-03, Vol.60 (3), p.617-624 [Periódico revisado por pares]

Chicago, IL: University of Chicago Press

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9
Mutations in the SLC3A1 transporter gene in cystinuria
Mutations in the SLC3A1 transporter gene in cystinuria
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Mutations in the SLC3A1 transporter gene in cystinuria

PRAS, E ; RABEN, N ; KASTNER, D. L ; GOLOMB, E ; ARBER, N ; AKSENTIJEVICH, I ; SCHAPIRO, J. M ; HAREL, D ; KATZ, G ; LIBERMAN, U ; PRAS, M

American journal of human genetics, 1995-06, Vol.56 (6), p.1297-1303 [Periódico revisado por pares]

Chicago, IL: University of Chicago Press

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10
Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246
Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246
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Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246

LEVY, E. N ; YANG SHEN ; GUMUCIO, D ; PRAS, M ; SHOHAT, M ; ROTTER, J. I ; FISCHEL-GHODSIAN, N ; RICHARDS, R. I ; KASTNER, D. L ; KUPELIAN, A ; KRUGLYAK, L ; AKSENTIJEVICH, I ; PRAS, E ; BALOW, J. E ; LINZER, B ; XIAOGUANG CHEN ; SHELTON, D. A

American journal of human genetics, 1996-03, Vol.58 (3), p.523-534 [Periódico revisado por pares]

Chicago, IL: University of Chicago Press

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