skip to main content
Idioma:
Primo Advanced Search
Primo Advanced Search Query Term
Primo Advanced Search Query Term
Primo Advanced Search Query Term
Primo Advanced Search prefilters
Busca Simples
Mostrar Somente
Refinado por: assunto: Science & Technology remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Genome‐Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim‐Chester Disease
Genome‐Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim‐Chester Disease
Material Type:
Artigo 		Adicionar ao Meu Espaço

Genome‐Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim‐Chester Disease

Martínez‐López, Javier ; Márquez, Ana ; Pegoraro, Francesco ; Ortiz‐Fernández, Lourdes ; Acosta‐Herrera, Marialbert ; Kerick, Martin ; Gelain, Elena ; Diamond, Eli L. ; Durham, Benjamin H. ; Abdel‐Wahab, Omar ; Go, Ronald S. ; Koster, Matthew J. ; Dagna, Lorenzo ; Campochiaro, Corrado ; Collin, Matthew ; Milne, Paul ; Estrada‐Veras, Juvianee I. ; O'Brien, Kevin ; Papo, Matthias ; Cohen‐Aubar, Fleur ; Amoura, Zahir ; Haroche, Julien ; Martín, Javier ; Vaglio, Augusto

Arthritis & rheumatology (Hoboken, N.J.), 2024-01, Vol.76 (1), p.141-145 [Periódico revisado por pares]

Boston, USA: Wiley Periodicals, Inc

Texto completo disponível

Citações Citado por
2
Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era
Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era
Material Type:
Artigo 		Adicionar ao Meu Espaço

Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era

Goyal, Gaurav ; Heaney, Mark L. ; Collin, Matthew ; Cohen-Aubart, Fleur ; Vaglio, Augusto ; Durham, Benjamin H. ; Hershkovitz-Rokah, Oshrat ; Girschikofsky, Michael ; Jacobsen, Eric D. ; Toyama, Kazuhiro ; Goodman, Aaron M. ; Hendrie, Paul ; Cao, Xin-xin ; Estrada-Veras, Juvianee I. ; Shpilberg, Ofer ; Abdo, André ; Kurokawa, Mineo ; Dagna, Lorenzo ; McClain, Kenneth L. ; Mazor, Roei D. ; Picarsic, Jennifer ; Janku, Filip ; Go, Ronald S. ; Haroche, Julien ; Diamond, Eli L.

Blood, 2020-05, Vol.135 (22), p.1929-1945 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
3
Neurological manifestations of Erdheim–Chester Disease
Neurological manifestations of Erdheim–Chester Disease
Material Type:
Artigo 		Adicionar ao Meu Espaço

Neurological manifestations of Erdheim–Chester Disease

Boyd, Louisa C. ; O’Brien, Kevin J. ; Ozkaya, Neval ; Lehky, Tanya ; Meoded, Avner ; Gochuico, Bernadette R. ; Hannah‐Shmouni, Fady ; Nath, Avindra ; Toro, Camilo ; Gahl, William A. ; Estrada‐Veras, Juvianee I. ; Dave, Rahul H.

Annals of clinical and translational neurology, 2020-04, Vol.7 (4), p.497-506 [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

Texto completo disponível

Citações Citado por
4
Medical genetics and genomic medicine in the Dominican Republic: challenges and opportunities
Medical genetics and genomic medicine in the Dominican Republic: challenges and opportunities
Material Type:
Artigo 		Adicionar ao Meu Espaço

Medical genetics and genomic medicine in the Dominican Republic: challenges and opportunities

Estrada‐Veras, Juvianee I. ; Cabrera‐Peña, Giselle A. ; Pérez‐Estrella de Ferrán, Ceila

Molecular genetics & genomic medicine, 2016-05, Vol.4 (3), p.243-256 [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

Texto completo disponível

Citações Citado por
5
Pituitary Imaging Abnormalities and Related Endocrine Disorders in Erdheim–Chester Disease
Pituitary Imaging Abnormalities and Related Endocrine Disorders in Erdheim–Chester Disease
Material Type:
Artigo 		Adicionar ao Meu Espaço

Pituitary Imaging Abnormalities and Related Endocrine Disorders in Erdheim–Chester Disease

Shekhar, Skand ; Irizarry-Caro, Jorge A. ; Sinaii, Ninet ; Gahl, William A. ; Estrada-Veras, Juvianee I. ; Dave, Rahul H. ; Gochuico, Bernadette R. ; Papadakis, Georgios Z. ; Patronas, Nicholas ; Stratakis, Constantine A. ; O’Brien, Kevin ; Hannah-Shmouni, Fady

Cancers, 2021-08, Vol.13 (16), p.4126 [Periódico revisado por pares]

Basel: MDPI AG

Texto completo disponível

Citações Citado por
6
Clinical and Histopathologic Features of Interstitial Lung Disease in Erdheim⁻Chester Disease
Clinical and Histopathologic Features of Interstitial Lung Disease in Erdheim⁻Chester Disease
Material Type:
Artigo 		Adicionar ao Meu Espaço

Clinical and Histopathologic Features of Interstitial Lung Disease in Erdheim⁻Chester Disease

Haroutunian, Sara G ; O'Brien, Kevin J ; Estrada-Veras, Juvianee I ; Yao, Jianhua ; Boyd, Louisa C ; Mathur, Kavya ; Gahl, William A ; Mirmomen, S Mojdeh ; Malayeri, Ashkan A ; Kleiner, David E ; Jaffe, Elaine S ; Gochuico, Bernadette R

Journal of clinical medicine, 2018-08, Vol.7 (9), p.243 [Periódico revisado por pares]

Switzerland: MDPI

Texto completo disponível

Citações Citado por
7
Skeletal involvement in Erdheim-Chester disease: Multimodality imaging features and association with the BRAFV600E mutation
Skeletal involvement in Erdheim-Chester disease: Multimodality imaging features and association with the BRAFV600E mutation
Material Type:
Artigo 		Adicionar ao Meu Espaço

Skeletal involvement in Erdheim-Chester disease: Multimodality imaging features and association with the BRAFV600E mutation

Nikpanah, Moozhan ; Dehghani Firouzabadi, Fatemeh ; Farhadi, Faraz ; Mirmomen, S. Mojdeh ; Ahlman, Mark A. ; Huda, Fahimul ; Millo, Corina ; Saboury, Babak ; Paschall, Anna K. ; Gahl, William A. ; Estrada-Veras, Juvianee I. ; Turkbey, Evrim ; Jones, Elizabeth C. ; O'Brien, Kevin ; Malayeri, Ashkan A.

Clinical imaging, 2024-02, Vol.106, p.110067-110067, Article 110067 [Periódico revisado por pares]

Texto completo disponível

Citações Citado por
8
Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans
Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans
Material Type:
Artigo 		Adicionar ao Meu Espaço

Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans

Bai, Renkui ; Cui, Hong ; Devaney, Joseph M. ; Allis, Katrina M. ; Balog, Amanda M. ; Liu, Xinyue ; Schnur, Rhonda E. ; Shapiro, Faye L. ; Brautbar, Ariel ; Estrada-Veras, Juvianee I. ; Hochstetler, Laurel ; McConkie-Rosell, Allyn ; McDonald, Marie T. ; Solomon, Benjamin D. ; Hofherr, Sean ; Richard, Gabriele ; Suchy, Sharon F.

Genetics in medicine, 2021-08, Vol.23 (8), p.1514-1521 [Periódico revisado por pares]

United States: Elsevier Inc

Sem texto completo

Citações Citado por
9
Survivorship Issues in Adult Patients With Histiocytic Neoplasms
Survivorship Issues in Adult Patients With Histiocytic Neoplasms
Material Type:
Artigo 		Adicionar ao Meu Espaço

Survivorship Issues in Adult Patients With Histiocytic Neoplasms

O'Brien, Kevin ; Dave, Rahul ; Shekhar, Skand ; Hannah-Shmouni, Fady ; Comis, Leora E ; Solomon, Beth I ; Chen, Marcus ; Gahl, William A ; FitzGibbon, Edmond ; Gochuico, Bernadette R ; Estrada-Veras, Juvianee I

Journal of the National Comprehensive Cancer Network, 2021-11, Vol.19 (11), p.1312-1318 [Periódico revisado por pares]

United States

Sem texto completo

Citações Citado por
10
Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg
Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg
Material Type:
Artigo 		Adicionar ao Meu Espaço

Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg

Schmidt, Lindsey ; Wain, Karen E. ; Hajek, Catherine ; Estrada-Veras, Juvianee I. ; Guillen Sacoto, Maria J. ; Wentzensen, Ingrid M. ; Malhotra, Alka ; Clause, Amanda ; Perry, Denise ; Moreno-De-Luca, Andres ; Bell, Megan

Molecular syndromology, 2021-03, Vol.12 (1), p.33-40 [Periódico revisado por pares]

Basel, Switzerland: S. Karger AG

Texto completo disponível

Citações Citado por

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Mostrar Somente

  1. Recursos Online (9)

Data de Publicação 

De até
Refinar
  1. Antes de2016  (1)
  2. 2016Até2017  (1)
  3. 2018Até2019  (1)
  4. 2020Até2021  (7)
  5. Após 2021  (2)
  6. Mais opções open sub menu

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

Buscando em bases de dados remotas. Favor aguardar.