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1
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
Material Type:
Artigo 		Adicionar ao Meu Espaço

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Cláudia M. B. Carvalho Feng Zhang; Pengfei Liu; Ankita Patel; Trilochan Sahoo; Carlos A Bacino; Chad Shaw; Sandra Peacock; Amber Pursley; Y. Jane Tavyev; Melissa B Ramocki; Magdalena Nawara; Ewa Obersztyn; Angela M Vianna-Morgante; Pawel Stankiewicz; Huda Y Zoghbi; Sau Wai Cheung; James R Lupski 1957-

Human Molecular Genetics v. 18, n. 12, p. 2188-2203, 2009

Oxford 2009

Item não circula. Consulte sua biblioteca.(Acessar)

2
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
Material Type:
Artigo 		Adicionar ao Meu Espaço

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Cláudia M. B. Carvalho Feng Zhang; Pengfei Liu; Ankita Patel; Trilochan Sahoo; Carlos A Bacino; Chad Shaw; Sandra Peacock; Amber Pursley; Y. Jane Tavyev; Melissa B Ramocki; Magdalena Nawara; Ewa Obersztyn; Angela Maria Vianna-Morgante; Pawel Stankiewicz; Huda Y Zoghbi; Sau Wai Cheung; James R Lupski 1957-

Human Molecular Genetics v. 18, n. 12, p. 2188-2203, 2009

Oxford 2009

Item não circula. Consulte sua biblioteca.(Acessar)

3
Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes
Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes
Material Type:
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Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes

Claudia M.B. Carvalho Shivakumar Vasanth; Marwan Shinawi; Chad Russell; Melissa B Ramocki; Chester W Brown; Jesper Graakjaer; Anne-Bine Skytte; Gayle S Patel; LaDonna Immken; Kyrieckos Aleck; Cynthia Lim; Sau Wai Cheung; Carla Rosenberg; Nicholas Katsanis; James R Lupski

American Journal of Human Genetics v. 95, p. 565-578, 2014

Cambridge 2014

Item não circula. Consulte sua biblioteca.(Acessar)

4
Altered neuronal network and rescue in a human MECP2 duplication model
Altered neuronal network and rescue in a human MECP2 duplication model
Material Type:
Artigo 		Adicionar ao Meu Espaço

Altered neuronal network and rescue in a human MECP2 duplication model

Nageshappa, S ; Carromeu, C ; Trujillo, C A ; Mesci, P ; Espuny-Camacho, I ; Pasciuto, E ; Vanderhaeghen, P ; Verfaillie, C M ; Raitano, S ; Kumar, A ; Carvalho, C M B ; Bagni, C ; Ramocki, M B ; Araujo, B H S ; Torres, L B ; Lupski, J R ; Van Esch, H ; Muotri, A R

Molecular psychiatry, 2016-02, Vol.21 (2), p.178-188 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Brief Report: Regression Timing and Associated Features in MECP2 Duplication Syndrome
Brief Report: Regression Timing and Associated Features in MECP2 Duplication Syndrome
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Brief Report: Regression Timing and Associated Features in MECP2 Duplication Syndrome

Peters, S. U. ; Hundley, R. J. ; Wilson, A. K. ; Carvalho, C. M. B. ; Lupski, J. R. ; Ramocki, M. B.

Journal of autism and developmental disorders, 2013-10, Vol.43 (10), p.2484-2490 [Periódico revisado por pares]

Boston: Springer US

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6
Haplotype Insufficiency for Suppressor of Cytokine Signaling-2 Enhances Intestinal Growth and Promotes Polyp Formation in Growth Hormone-Transgenic Mice
Haplotype Insufficiency for Suppressor of Cytokine Signaling-2 Enhances Intestinal Growth and Promotes Polyp Formation in Growth Hormone-Transgenic Mice
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Haplotype Insufficiency for Suppressor of Cytokine Signaling-2 Enhances Intestinal Growth and Promotes Polyp Formation in Growth Hormone-Transgenic Mice

Michaylira, Carmen Z ; Ramocki, Nicole M ; Simmons, James G ; Tanner, C. Kirby ; McNaughton, Kirk K ; Woosley, John T ; Greenhalgh, Christopher J ; Lund, P. Kay

Endocrinology (Philadelphia), 2006-04, Vol.147 (4), p.1632-1641 [Periódico revisado por pares]

Bethesda, MD: Endocrine Society

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7
The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population
The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population
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The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population

Hanson, Ellen ; Bernier, Raphael ; Porche, Ken ; Jackson, Frank I ; Goin-Kochel, Robin P ; Snyder, LeeAnne Green ; Snow, Anne V ; Wallace, Arianne Stevens ; Campe, Katherine L ; Zhang, Yuan ; Chen, Qixuan ; D’Angelo, Debra ; Moreno-De-Luca, Andres ; Orr, Patrick T ; Boomer, K.B ; Evans, David W ; Kanne, Stephen ; Berry, Leandra ; Miller, Fiona K ; Olson, Jennifer ; Sherr, Elliot ; Martin, Christa L ; Ledbetter, David H ; Spiro, John E ; Chung, Wendy K

Biological psychiatry (1969), 2015-05, Vol.77 (9), p.785-793 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Identification and Characterization of Rain, a Novel Ras-interacting Protein with a Unique Subcellular Localization
Identification and Characterization of Rain, a Novel Ras-interacting Protein with a Unique Subcellular Localization
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Identification and Characterization of Rain, a Novel Ras-interacting Protein with a Unique Subcellular Localization

Mitin, Natalia Y ; Ramocki, Melissa B ; Zullo, Alfred J ; Der, Channing J ; Konieczny, Stephen F ; Taparowsky, Elizabeth J

The Journal of biological chemistry, 2004-05, Vol.279 (21), p.22353-22361 [Periódico revisado por pares]

United States: American Society for Biochemistry and Molecular Biology

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9
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia
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Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia

Matsumoto, N ; Leventer, R J ; Kuc, J A ; Mewborn, S K ; Dudlicek, L L ; Ramocki, M B ; Pilz, D T ; Mills, P L ; Das, S ; Ross, M E ; Ledbetter, D H ; Dobyns, W B

European journal of human genetics : EJHG, 2001-01, Vol.9 (1), p.5-12 [Periódico revisado por pares]

England: Nature Publishing Group

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10
Insulin Receptor Substrate-1 Deficiency Promotes Apoptosis in the Putative Intestinal Crypt Stem Cell Region, Limits Apcmin/+ Tumors, and Regulates Sox9
Insulin Receptor Substrate-1 Deficiency Promotes Apoptosis in the Putative Intestinal Crypt Stem Cell Region, Limits Apcmin/+ Tumors, and Regulates Sox9
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Insulin Receptor Substrate-1 Deficiency Promotes Apoptosis in the Putative Intestinal Crypt Stem Cell Region, Limits Apcmin/+ Tumors, and Regulates Sox9

Ramocki, Nicole M ; Wilkins, Heather R ; Magness, Scott T ; Simmons, James G ; Scull, Brooks P ; Lee, Ginny H ; McNaughton, Kirk K ; Lund, P. Kay

Endocrinology (Philadelphia), 2008-01, Vol.149 (1), p.261-267 [Periódico revisado por pares]

United States: Endocrine Society

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Deste Autor:

  1. Ramocki, M
  2. Cheung, S
  3. Lupski, J
  4. Carvalho, C
  5. Nawara, M

Neste Assunto:

  1. Science & Technology
  2. Life Sciences & Biomedicine
  3. Humans
  4. Male
  5. Female

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

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