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Refinado por: Base de dados/Biblioteca: PubMed Central remover Nome da Publicação: The American Journal Of Human Genetics remover
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1
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant
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Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

Li, Jun ; Woods, Susan L. ; Healey, Sue ; Beesley, Jonathan ; Chen, Xiaoqing ; Lee, Jason S. ; Sivakumaran, Haran ; Wayte, Nicci ; Nones, Katia ; Waterfall, Joshua J. ; Pearson, John ; Patch, Anne-Marie ; Senz, Janine ; Ferreira, Manuel A. ; Kaurah, Pardeep ; Mackenzie, Robertson ; Heravi-Moussavi, Alireza ; Hansford, Samantha ; Lannagan, Tamsin R.M. ; Spurdle, Amanda B. ; Simpson, Peter T. ; da Silva, Leonard ; Lakhani, Sunil R. ; Clouston, Andrew D. ; Bettington, Mark ; Grimpen, Florian ; Busuttil, Rita A. ; Di Costanzo, Natasha ; Boussioutas, Alex ; Jeanjean, Marie ; Chong, George ; Fabre, Aurélie ; Olschwang, Sylviane ; Faulkner, Geoffrey J. ; Bellos, Evangelos ; Coin, Lachlan ; Rioux, Kevin ; Bathe, Oliver F. ; Wen, Xiaogang ; Martin, Hilary C. ; Neklason, Deborah W. ; Davis, Sean R. ; Walker, Robert L. ; Calzone, Kathleen A. ; Avital, Itzhak ; Heller, Theo ; Koh, Christopher ; Pineda, Marbin ; Rudloff, Udo ; Quezado, Martha ; Pichurin, Pavel N. ; Hulick, Peter J. ; Weissman, Scott M. ; Newlin, Anna ; Rubinstein, Wendy S. ; Sampson, Jone E. ; Hamman, Kelly ; Goldgar, David ; Poplawski, Nicola ; Phillips, Kerry ; Schofield, Lyn ; Armstrong, Jacqueline ; Kiraly-Borri, Cathy ; Suthers, Graeme K. ; Huntsman, David G. ; Foulkes, William D. ; Carneiro, Fatima ; Lindor, Noralane M. ; Edwards, Stacey L. ; French, Juliet D. ; Waddell, Nicola ; Meltzer, Paul S. ; Worthley, Daniel L. ; Schrader, Kasmintan A. ; Chenevix-Trench, Georgia

American journal of human genetics, 2016-05, Vol.98 (5), p.830-842 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility
Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility
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Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility

Mbarek, Hamdi ; Steinberg, Stacy ; Nyholt, Dale R. ; Gordon, Scott D. ; Miller, Michael B. ; McRae, Allan F. ; Hottenga, Jouke Jan ; Day, Felix R. ; Willemsen, Gonneke ; de Geus, Eco J. ; Davies, Gareth E. ; Martin, Hilary C. ; Penninx, Brenda W. ; Jansen, Rick ; McAloney, Kerrie ; Vink, Jacqueline M. ; Kaprio, Jaakko ; Plomin, Robert ; Spector, Tim D. ; Magnusson, Patrik K. ; Reversade, Bruno ; Harris, R. Alan ; Aagaard, Kjersti ; Kristjansson, Ragnar P. ; Olafsson, Isleifur ; Eyjolfsson, Gudmundur Ingi ; Sigurdardottir, Olof ; Iacono, William G. ; Lambalk, Cornelis B. ; Montgomery, Grant W. ; McGue, Matt ; Ong, Ken K. ; Perry, John R.B. ; Martin, Nicholas G. ; Stefánsson, Hreinn ; Stefánsson, Kari ; Boomsma, Dorret I.

American journal of human genetics, 2016-05, Vol.98 (5), p.898-908 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Nonmuscle Myosin Heavy Chain IIA Mutations Define a Spectrum of Autosomal Dominant Macrothrombocytopenias: May-Hegglin Anomaly and Fechtner, Sebastian, Epstein, and Alport-Like Syndromes
Nonmuscle Myosin Heavy Chain IIA Mutations Define a Spectrum of Autosomal Dominant Macrothrombocytopenias: May-Hegglin Anomaly and Fechtner, Sebastian, Epstein, and Alport-Like Syndromes
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Nonmuscle Myosin Heavy Chain IIA Mutations Define a Spectrum of Autosomal Dominant Macrothrombocytopenias: May-Hegglin Anomaly and Fechtner, Sebastian, Epstein, and Alport-Like Syndromes

Heath, Karen E. ; Campos-Barros, Angel ; Toren, Amos ; Rozenfeld-Granot, Galit ; Carlsson, Lena E. ; Savige, Judy ; Denison, Joyce C. ; Gregory, Martin C. ; White, James G. ; Barker, David F ; Greinacher, Andreas ; Epstein, Charles J. ; Glucksman, Marc J. ; Martignetti, John A.

American journal of human genetics, 2001-11, Vol.69 (5), p.1033-1045 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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4
Early-Onset Autosomal Dominant Alzheimer Disease: Prevalence, Genetic Heterogeneity, and Mutation Spectrum
Early-Onset Autosomal Dominant Alzheimer Disease: Prevalence, Genetic Heterogeneity, and Mutation Spectrum
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Early-Onset Autosomal Dominant Alzheimer Disease: Prevalence, Genetic Heterogeneity, and Mutation Spectrum

Campion, Dominique ; Dumanchin, Cécile ; Hannequin, Didier ; Dubois, Bruno ; Belliard, Serge ; Puel, Michèle ; Thomas-Anterion, Catherine ; Michon, Agnès ; Martin, Cosette ; Charbonnier, Françoise ; Raux, Grégory ; Camuzat, Agnès ; Penet, Christiane ; Mesnage, Valérie ; Martinez, Maria ; Clerget-Darpoux, Françoise ; Brice, Alexis ; Frebourg, Thierry

American journal of human genetics, 1999-09, Vol.65 (3), p.664-670 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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5
Characterization of Mutations in the CPO Gene in British Patients Demonstrates Absence of Genotype-Phenotype Correlation and Identifies Relationship between Hereditary Coproporphyria and Harderoporphyria
Characterization of Mutations in the CPO Gene in British Patients Demonstrates Absence of Genotype-Phenotype Correlation and Identifies Relationship between Hereditary Coproporphyria and Harderoporphyria
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Characterization of Mutations in the CPO Gene in British Patients Demonstrates Absence of Genotype-Phenotype Correlation and Identifies Relationship between Hereditary Coproporphyria and Harderoporphyria

Lamoril, Jérôme ; Puy, Hervé ; Whatley, Sharon D. ; Martin, Caroline ; Woolf, Jacqueline R. ; Da Silva, Vasco ; Deybach, Jean-Charles ; Elder, George H.

American journal of human genetics, 2001-05, Vol.68 (5), p.1130-1138 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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6
Contribution of a Common Single-Nucleotide Polymorphism to the Genetic Predisposition for Erythropoietic Protoporphyria
Contribution of a Common Single-Nucleotide Polymorphism to the Genetic Predisposition for Erythropoietic Protoporphyria
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Contribution of a Common Single-Nucleotide Polymorphism to the Genetic Predisposition for Erythropoietic Protoporphyria

Gouya, Laurent ; Martin-Schmitt, Caroline ; Robreau, Anne-Marie ; Austerlitz, Frédéric ; Da Silva, Vasco ; Brun, Patrick ; Simonin, Sylvie ; Lyoumi, Saïd ; Grandchamp, Bernard ; Beaumont, Carole ; Puy, Hervé ; Deybach, Jean-Charles

American journal of human genetics, 2006-01, Vol.78 (1), p.2-14 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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7
Mechanisms and Consequences of Small Supernumerary Marker Chromosomes: From Barbara McClintock to Modern Genetic-Counseling Issues
Mechanisms and Consequences of Small Supernumerary Marker Chromosomes: From Barbara McClintock to Modern Genetic-Counseling Issues
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Mechanisms and Consequences of Small Supernumerary Marker Chromosomes: From Barbara McClintock to Modern Genetic-Counseling Issues

Baldwin, Erin L. ; May, Lorraine F. ; Justice, April N. ; Martin, Christa L. ; Ledbetter, David H.

American journal of human genetics, 2008-02, Vol.82 (2), p.398-410 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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8
Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3
Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3
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Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3

Cardoso, Carlos ; Leventer, Richard J. ; Ward, Heather L. ; Toyo-oka, Kazuhito ; Chung, June ; Gross, Alyssa ; Martin, Christa L. ; Allanson, Judith ; Pilz, Daniela T. ; Olney, Ann H. ; Mutchinick, Osvaldo M. ; Hirotsune, Shinji ; Wynshaw-Boris, Anthony ; Dobyns, William B. ; Ledbetter, David H.

American journal of human genetics, 2003-04, Vol.72 (4), p.918-930 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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9
A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28
A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28
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A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28

Villard, Laurent ; Nguyen, Karine ; Cardoso, Carlos ; Martin, Christa Lese ; Weiss, Ann M. ; Sifry-Platt, Mara ; Grix, Arthur W. ; Graham, John M. ; Winter, Robin M. ; Leventer, Richard J. ; Dobyns, William B.

American journal of human genetics, 2002-04, Vol.70 (4), p.1003-1008 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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10
The Evolutionary Origin of Human Subtelomeric Homologies—or Where the Ends Begin
The Evolutionary Origin of Human Subtelomeric Homologies—or Where the Ends Begin
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The Evolutionary Origin of Human Subtelomeric Homologies—or Where the Ends Begin

Martin, Christa Lese ; Wong, Andrew ; Gross, Alyssa ; Chung, June ; Fantes, Judy A. ; Ledbetter, David H.

American journal of human genetics, 2002-04, Vol.70 (4), p.972-984 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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