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11
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene
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The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

Schwartz, Charles E ; Tarpey, Patrick S ; Lubs, Herbert A ; Verloes, Alain ; May, Melanie M ; Risheg, Hiba ; Friez, Michael J ; Futreal, P Andrew ; Edkins, Sarah ; Teague, Jon ; Briault, Sylvain ; Skinner, Cindy ; Bauer-Carlin, Astrid ; Simensen, Richard J ; Joseph, Sumy M ; Jones, Julie R ; Gecz, Josef ; Stratton, Michael R ; Raymond, F Lucy ; Stevenson, Roger E

Journal of medical genetics, 2007-07, Vol.44 (7), p.472-477 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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12
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
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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

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13
Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)
Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)
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Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)

Tejada, María Isabel ; Villate, Olatz ; Ibarluzea, Nekane ; de la Hoz, Ana Belén ; Martínez-Bouzas, Cristina ; Beristain, Elena ; Martínez, Francisco ; Friez, Michael J. ; Sobrino, Beatriz ; Barros, Francisco

Frontiers in genetics, 2019-10, Vol.10 [Periódico revisado por pares]

Frontiers Media S.A

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14
Clinical and genetic characterization of manifesting carriers of DMD mutations
Clinical and genetic characterization of manifesting carriers of DMD mutations
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Clinical and genetic characterization of manifesting carriers of DMD mutations

Soltanzadeh, Payam ; Friez, Michael J ; Dunn, Diane ; von Niederhausern, Andrew ; Gurvich, Olga L ; Swoboda, Kathryn J ; Sampson, Jacinda B ; Pestronk, Alan ; Connolly, Anne M ; Florence, Julaine M ; Finkel, Richard S ; Bönnemann, Carsten G ; Medne, Livija ; Mendell, Jerry R ; Mathews, Katherine D ; Wong, Brenda L ; Sussman, Michael D ; Zonana, Jonathan ; Kovak, Karen ; Gospe, Sidney M ; Gappmaier, Eduard ; Taylor, Laura E ; Howard, Michael T ; Weiss, Robert B ; Flanigan, Kevin M

Neuromuscular disorders : NMD, 2010-08, Vol.20 (8), p.499-504 [Periódico revisado por pares]

England: Elsevier B.V

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15
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
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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

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16
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
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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

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17
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
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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

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18
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
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Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

Levy, Michael A. ; Relator, Raissa ; McConkey, Haley ; Pranckeviciene, Erinija ; Kerkhof, Jennifer ; Barat‐Houari, Mouna ; Bargiacchi, Sara ; Biamino, Elisa ; Palomares Bralo, María ; Cappuccio, Gerarda ; Ciolfi, Andrea ; Clarke, Angus ; DuPont, Barbara R. ; Elting, Mariet W. ; Faivre, Laurence ; Fee, Timothy ; Ferilli, Marco ; Fletcher, Robin S. ; Cherick, Florian ; Foroutan, Aidin ; Friez, Michael J. ; Gervasini, Cristina ; Haghshenas, Sadegheh ; Hilton, Benjamin A. ; Jenkins, Zandra ; Kaur, Simranpreet ; Lewis, Suzanne ; Louie, Raymond J. ; Maitz, Silvia ; Milani, Donatella ; Morgan, Angela T. ; Oegema, Renske ; Østergaard, Elsebet ; Pallares, Nathalie R. ; Piccione, Maria ; Plomp, Astrid S. ; Poulton, Cathryn ; Reilly, Jack ; Rius, Rocio ; Robertson, Stephen ; Rooney, Kathleen ; Rousseau, Justine ; Santen, Gijs W. E. ; Santos‐Simarro, Fernando ; Schijns, Josephine ; Squeo, Gabriella M. ; John, Miya St ; Thauvin‐Robinet, Christel ; Traficante, Giovanna ; Sluijs, Pleuntje J. ; Vergano, Samantha A. ; Vos, Niels ; Walden, Kellie K. ; Azmanov, Dimitar ; Balci, Tugce B. ; Banka, Siddharth ; Gecz, Jozef ; Henneman, Peter ; Lee, Jennifer A. ; Mannens, Marcel M. A. M. ; Roscioli, Tony ; Siu, Victoria ; Amor, David J. ; Baynam, Gareth ; Bend, Eric G. ; Boycott, Kym ; Brunetti‐Pierri, Nicola ; Campeau, Philippe M. ; Campion, Dominique ; Christodoulou, John ; Dyment, David ; Esber, Natacha ; Fahrner, Jill A. ; Fleming, Mark D. ; Genevieve, David ; Heron, Delphine ; Husson, Thomas ; Kernohan, Kristin D. ; McNeill, Alisdair ; Menke, Leonie A. ; Merla, Giuseppe ; Prontera, Paolo ; Rockman‐Greenberg, Cheryl ; Schwartz, Charles ; Skinner, Steven A. ; Stevenson, Roger E. ; Vincent, Marie ; Vitobello, Antonio ; Tartaglia, Marco ; Alders, Marielle ; Tedder, Matthew L. ; Sadikovic, Bekim

Human mutation, 2022-11, Vol.43 (11), p.1609-1628 [Periódico revisado por pares]

United States: Hindawi Limited

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19
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Gehin, Charlotte ; Lone, Museer A ; Lee, Winston ; Capolupo, Laura ; Ho, Sylvia ; Adeyemi, Adekemi M ; Gerkes, Erica H ; Stegmann, Alexander Pa ; López-Martín, Estrella ; Bermejo-Sánchez, Eva ; Martínez-Delgado, Beatriz ; Zweier, Christiane ; Kraus, Cornelia ; Popp, Bernt ; Strehlow, Vincent ; Gräfe, Daniel ; Knerr, Ina ; Jones, Eppie R ; Zamuner, Stefano ; Abriata, Luciano A ; Kunnathully, Vidya ; Moeller, Brandon E ; Vocat, Anthony ; Rommelaere, Samuel ; Bocquete, Jean-Philippe ; Ruchti, Evelyne ; Limoni, Greta ; Van Campenhoudt, Marine ; Bourgeat, Samuel ; Henklein, Petra ; Gilissen, Christian ; van Bon, Bregje W ; Pfundt, Rolph ; Willemsen, Marjolein H ; Schieving, Jolanda H ; Leonardi, Emanuela ; Soli, Fiorenza ; Murgia, Alessandra ; Guo, Hui ; Zhang, Qiumeng ; Xia, Kun ; Fagerberg, Christina R ; Beier, Christoph P ; Larsen, Martin J ; Valenzuela, Irene ; Fernández-Álvarez, Paula ; Xiong, Shiyi ; Śmigiel, Robert ; López-González, Vanesa ; Armengol, Lluís ; Morleo, Manuela ; Selicorni, Angelo ; Torella, Annalaura ; Blyth, Moira ; Cooper, Nicola S ; Wilson, Valerie ; Oegema, Renske ; Herenger, Yvan ; Garde, Aurore ; Bruel, Ange-Line ; Tran Mau-Them, Frederic ; Maddocks, Alexis Br ; Bain, Jennifer M ; Bhat, Musadiq A ; Costain, Gregory ; Kannu, Peter ; Marwaha, Ashish ; Champaigne, Neena L ; Friez, Michael J ; Richardson, Ellen B ; Gowda, Vykuntaraju K ; Srinivasan, Varunvenkat M ; Gupta, Yask ; Lim, Tze Y ; Sanna-Cherchi, Simone ; Lemaitre, Bruno ; Yamaji, Toshiyuki ; Hanada, Kentaro ; Burke, John E ; Jakšić, Ana Marjia ; McCabe, Brian D ; De Los Rios, Paolo ; Hornemann, Thorsten ; D'Angelo, Giovanni ; Gennarino, Vincenzo A

The Journal of clinical investigation, 2023-05, Vol.133 (10), p.1-16 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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20
Rare pathogenic variants in WNK3 cause X-linked intellectual disability
Rare pathogenic variants in WNK3 cause X-linked intellectual disability
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Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Küry, Sébastien ; Zhang, Jinwei ; Besnard, Thomas ; Caro-Llopis, Alfonso ; Zeng, Xue ; Robert, Stephanie M. ; Josiah, Sunday S. ; Kiziltug, Emre ; Denommé-Pichon, Anne-Sophie ; Cogné, Benjamin ; Kundishora, Adam J. ; Hao, Le T. ; Li, Hong ; Stevenson, Roger E. ; Louie, Raymond J. ; Deb, Wallid ; Torti, Erin ; Vignard, Virginie ; McWalter, Kirsty ; Raymond, F. Lucy ; Rajabi, Farrah ; Ranza, Emmanuelle ; Grozeva, Detelina ; Coury, Stephanie A. ; Blanc, Xavier ; Brischoux-Boucher, Elise ; Keren, Boris ; Õunap, Katrin ; Reinson, Karit ; Ilves, Pilvi ; Wentzensen, Ingrid M. ; Barr, Eileen E. ; Guihard, Solveig Heide ; Charles, Perrine ; Seaby, Eleanor G. ; Monaghan, Kristin G. ; Rio, Marlène ; van Bever, Yolande ; van Slegtenhorst, Marjon ; Chung, Wendy K. ; Wilson, Ashley ; Quinquis, Delphine ; Bréhéret, Flora ; Retterer, Kyle ; Lindenbaum, Pierre ; Scalais, Emmanuel ; Rhodes, Lindsay ; Stouffs, Katrien ; Pereira, Elaine M. ; Berger, Sara M. ; Milla, Sarah S. ; Jaykumar, Ankita B. ; Cobb, Melanie H. ; Panchagnula, Shreyas ; Duy, Phan Q. ; Vincent, Marie ; Mercier, Sandra ; Gilbert-Dussardier, Brigitte ; Le Guillou, Xavier ; Audebert-Bellanger, Séverine ; Odent, Sylvie ; Schmitt, Sébastien ; Boisseau, Pierre ; Bonneau, Dominique ; Toutain, Annick ; Colin, Estelle ; Pasquier, Laurent ; Redon, Richard ; Bouman, Arjan ; Rosenfeld, Jill. A. ; Friez, Michael J. ; Pérez-Peña, Helena ; Akhtar Rizvi, Syed Raza ; Haider, Shozeb ; Antonarakis, Stylianos E. ; Schwartz, Charles E. ; Martínez, Francisco ; Bézieau, Stéphane ; Kahle, Kristopher T. ; Isidor, Bertrand

Genetics in medicine, 2022-09, Vol.24 (9), p.1941-1951 [Periódico revisado por pares]

United States: Elsevier Inc

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