skip to main content
Idioma:
Mostrar Somente
Refinado por: assunto: Genetics remover assunto: Life Sciences & Biomedicine remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
Material Type:
Artigo 		Adicionar ao Meu Espaço

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Aref-Eshghi, Erfan ; Kerkhof, Jennifer ; Pedro, Victor P. ; Barat-Houari, Mouna ; Ruiz-Pallares, Nathalie ; Andrau, Jean-Christophe ; Lacombe, Didier ; Van-Gils, Julien ; Fergelot, Patricia ; Dubourg, Christèle ; Cormier-Daire, Valerie ; Rondeau, Sophie ; Lecoquierre, François ; Saugier-Veber, Pascale ; Nicolas, Gaël ; Lesca, Gaetan ; Chatron, Nicolas ; Sanlaville, Damien ; Vitobello, Antonio ; Faivre, Laurence ; Thauvin-Robinet, Christel ; Laumonnier, Frederic ; Raynaud, Martine ; Alders, Mariëlle ; Mannens, Marcel ; Henneman, Peter ; Hennekam, Raoul C. ; Velasco, Guillaume ; Francastel, Claire ; Ulveling, Damien ; Ciolfi, Andrea ; Pizzi, Simone ; Tartaglia, Marco ; Heide, Solveig ; Héron, Delphine ; Mignot, Cyril ; Keren, Boris ; Whalen, Sandra ; Afenjar, Alexandra ; Bienvenu, Thierry ; Campeau, Philippe M. ; Rousseau, Justine ; Levy, Michael A. ; Brick, Lauren ; Kozenko, Mariya ; Balci, Tugce B. ; Siu, Victoria Mok ; Stuart, Alan ; Kadour, Mike ; Masters, Jennifer ; Takano, Kyoko ; Kleefstra, Tjitske ; de Leeuw, Nicole ; Field, Michael ; Shaw, Marie ; Gecz, Jozef ; Ainsworth, Peter J. ; Lin, Hanxin ; Rodenhiser, David I. ; Friez, Michael J. ; Tedder, Matt ; Lee, Jennifer A. ; DuPont, Barbara R. ; Stevenson, Roger E. ; Skinner, Steven A. ; Schwartz, Charles E. ; Genevieve, David ; Sadikovic, Bekim

American journal of human genetics, 2020-03, Vol.106 (3), p.356-370 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
2
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
Material Type:
Artigo 		Adicionar ao Meu Espaço

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

Bauters, Marijke ; Van Esch, Hilde ; Friez, Michael J ; Boespflug-Tanguy, Odile ; Zenker, Martin ; Vianna-Morgante, Angela M ; Rosenberg, Carla ; Ignatius, Jaakko ; Raynaud, Martine ; Hollanders, Karen ; Govaerts, Karen ; Vandenreijt, Kris ; Niel, Florence ; Blanc, Pierre ; Stevenson, Roger E ; Fryns, Jean-Pierre ; Marynen, Peter ; Schwartz, Charles E ; Froyen, Guy

Genome Research, 2008-06, Vol.18 (6), p.847-858 [Periódico revisado por pares]

United States: Cold Spring Harbor Laboratory Press

Texto completo disponível

Citações Citado por
3
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

Bend, Eric G ; Aref-Eshghi, Erfan ; Everman, David B ; Rogers, R Curtis ; Cathey, Sara S ; Prijoles, Eloise J ; Lyons, Michael J ; Davis, Heather ; Clarkson, Katie ; Gripp, Karen W ; Li, Dong ; Bhoj, Elizabeth ; Zackai, Elaine ; Mark, Paul ; Hakonarson, Hakon ; Demmer, Laurie A ; Levy, Michael A ; Kerkhof, Jennifer ; Stuart, Alan ; Rodenhiser, David ; Friez, Michael J ; Stevenson, Roger E ; Schwartz, Charles E ; Sadikovic, Bekim

Clinical epigenetics, 2019-04, Vol.11 (1), p.64-64, Article 64 [Periódico revisado por pares]

Germany: BioMed Central Ltd

Texto completo disponível

Citações Citado por
4
Genetically Characterized Positive Control Cell Lines Derived from Residual Clinical Blood Samples
Genetically Characterized Positive Control Cell Lines Derived from Residual Clinical Blood Samples
Material Type:
Artigo 		Adicionar ao Meu Espaço

Genetically Characterized Positive Control Cell Lines Derived from Residual Clinical Blood Samples

Bernacki, Susan H ; Beck, Jeanne C ; Stankovic, Ana K ; Williams, Laurina O ; Amos, Jean ; Snow-Bailey, Karen ; Farkas, Daniel H ; Friez, Michael J ; Hantash, Feras M ; Matteson, Karla J ; Monaghan, Kristin G ; Muralidharan, Kasinathan ; Pratt, Victoria M ; Prior, Thomas W ; Richie, Kristy L ; Levin, Barbara C ; Rohlfs, Elizabeth M ; Schaefer, Frederick V ; Shrimpton, Antony E ; Spector, Elaine B ; Stolle, Catherine A ; Strom, Charles M ; Thibodeau, Stephen N ; Cole, Eugene C ; Goodman, Barbara K ; Stenzel, Timothy T

Clinical chemistry (Baltimore, Md.), 2005-11, Vol.51 (11), p.2013-2024 [Periódico revisado por pares]

Washington, DC: Am Assoc Clin Chem

Texto completo disponível

Citações Citado por
5
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
Material Type:
Artigo 		Adicionar ao Meu Espaço

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

Bronicki, Lucas M ; Redin, Claire ; Drunat, Severine ; Piton, Amélie ; Lyons, Michael ; Passemard, Sandrine ; Baumann, Clarisse ; Faivre, Laurence ; Thevenon, Julien ; Rivière, Jean-Baptiste ; Isidor, Bertrand ; Gan, Grace ; Francannet, Christine ; Willems, Marjolaine ; Gunel, Murat ; Jones, Julie R ; Gleeson, Joseph G ; Mandel, Jean-Louis ; Stevenson, Roger E ; Friez, Michael J ; Aylsworth, Arthur S

European journal of human genetics : EJHG, 2015-04, Vol.23 (11), p.1482-1487 [Periódico revisado por pares]

England: Nature Publishing Group

Texto completo disponível

Citações Citado por
6
Expression of nifH genes by diazotrophic bacteria in the rhizosphere of short form Spartina alterniflora
Expression of nifH genes by diazotrophic bacteria in the rhizosphere of short form Spartina alterniflora
Material Type:
Artigo 		Adicionar ao Meu Espaço

Expression of nifH genes by diazotrophic bacteria in the rhizosphere of short form Spartina alterniflora

Brown, M.M ; Friez, M.J ; Lovell, C.R

FEMS microbiology ecology, 2003-04, Vol.43 (3), p.411-417 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por
7
Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism
Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism
Material Type:
Artigo 		Adicionar ao Meu Espaço

Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism

Dwivedi, Alka Chaubey Nee ; Lyons, Michael J ; Kwiatkowski, Kat ; Bartel, Frank O ; Friez, Michael J ; Holden, Kenton R ; Fung, Eric T ; DuPont, Barbara R

Molecular cytogenetics, 2014-12, Vol.7 (1), p.93-93, Article 93 [Periódico revisado por pares]

England: BioMed Central Ltd

Texto completo disponível

Citações Citado por
8
Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28
Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28
Material Type:
Artigo 		Adicionar ao Meu Espaço

Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28

Friez, Michael J ; Jones, Julie R ; Clarkson, Katie ; Lubs, Herbert ; Abuelo, Dianne ; Bier, Jo-Ann Blaymore ; Pai, Shashidhar ; Simensen, Richard ; Williams, Charles ; Giampietro, Philip F ; Schwartz, Charles E ; Stevenson, Roger E

Pediatrics (Evanston), 2006-12, Vol.118 (6), p.e1687-e1695 [Periódico revisado por pares]

United States: Am Acad Pediatrics

Texto completo disponível

Citações Citado por
9
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

Friez, Michael J ; Risheg, Hiba ; Graham, John M ; Clark, Robin D ; Rogers, R Curtis ; Opitz, John M ; Moeschler, John B ; Peiffer, Andreas P ; May, Melanie ; Joseph, Sumy M ; Jones, Julie R ; Stevenson, Roger E ; Schwartz, Charles E

Nature genetics, 2007-04, Vol.39 (4), p.451-453 [Periódico revisado por pares]

London: Nature Publishing Group

Texto completo disponível

Citações Citado por
10
A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition
A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition
Material Type:
Artigo 		Adicionar ao Meu Espaço

A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition

Garbern, James Y. ; Neumann, Manuela ; Trojanowski, John Q. ; Lee, Virginia M.-Y. ; Feldman, Gerald ; Norris, Joy W. ; Friez, Michael J. ; Schwartz, Charles E. ; Stevenson, Roger ; Sima, Anders A. F.

Brain (London, England : 1878), 2010-05, Vol.133 (5), p.1391-1402 [Periódico revisado por pares]

England: Oxford University Press

Texto completo disponível

Citações Citado por

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Mostrar Somente

  1. Recursos Online (19)

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

Buscando em bases de dados remotas. Favor aguardar.