skip to main content
Idioma:
Refinado por: Nome da Publicação: American Journal Of Human Genetics remover assunto: Pedigree remover Mutation remover Humans remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome
Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome

Pierce, Sarah B. ; Gersak, Ksenija ; Michaelson-Cohen, Rachel ; Walsh, Tom ; Lee, Ming K. ; Malach, Daniel ; Klevit, Rachel E. ; King, Mary-Claire ; Levy-Lahad, Ephrat

American journal of human genetics, 2013-04, Vol.92 (4), p.614-620 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
2
Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease
Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease
Material Type:
Artigo 		Adicionar ao Meu Espaço

Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

Jenkinson, Emma M. ; Rehman, Atteeq U. ; Walsh, Tom ; Clayton-Smith, Jill ; Lee, Kwanghyuk ; Morell, Robert J. ; Drummond, Meghan C. ; Khan, Shaheen N. ; Naeem, Muhammad Asif ; Rauf, Bushra ; Billington, Neil ; Schultz, Julie M. ; Urquhart, Jill E. ; Lee, Ming K. ; Berry, Andrew ; Hanley, Neil A. ; Mehta, Sarju ; Cilliers, Deirdre ; Clayton, Peter E. ; Kingston, Helen ; Smith, Miriam J. ; Warner, Thomas T. ; Black, Graeme C. ; Trump, Dorothy ; Davis, Julian R.E. ; Ahmad, Wasim ; Leal, Suzanne M. ; Riazuddin, Sheikh ; King, Mary-Claire ; Friedman, Thomas B. ; Newman, William G.

American journal of human genetics, 2013-04, Vol.92 (4), p.605-613 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
3
Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness
Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness

Perrault, Isabelle ; Hamdan, Fadi F. ; Rio, Marlène ; Capo-Chichi, José-Mario ; Boddaert, Nathalie ; Décarie, Jean-Claude ; Maranda, Bruno ; Nabbout, Rima ; Sylvain, Michel ; Lortie, Anne ; Roux, Philippe P. ; Rossignol, Elsa ; Gérard, Xavier ; Barcia, Giulia ; Berquin, Patrick ; Munnich, Arnold ; Rouleau, Guy A. ; Kaplan, Josseline ; Rozet, Jean-Michel ; Michaud, Jacques L.

American journal of human genetics, 2014-06, Vol.94 (6), p.891-897 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
4
Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Perrault, Isabelle ; Saunier, Sophie ; Hanein, Sylvain ; Filhol, Emilie ; Bizet, Albane A. ; Collins, Felicity ; Salih, Mustafa A.M. ; Gerber, Sylvie ; Delphin, Nathalie ; Bigot, Karine ; Orssaud, Christophe ; Silva, Eduardo ; Baudouin, Véronique ; Oud, Machteld M. ; Shannon, Nora ; Le Merrer, Martine ; Roche, Olivier ; Pietrement, Christine ; Goumid, Jamal ; Baumann, Clarisse ; Bole-Feysot, Christine ; Nitschke, Patrick ; Zahrate, Mohammed ; Beales, Philip ; Arts, Heleen H. ; Munnich, Arnold ; Kaplan, Josseline ; Antignac, Corinne ; Cormier-Daire, Valérie ; Rozet, Jean-Michel

American journal of human genetics, 2012-05, Vol.90 (5), p.864-870 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

Texto completo disponível

Citações Citado por
5
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype
Material Type:
Artigo 		Adicionar ao Meu Espaço

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype

Senum, Sarah R. ; Li, Ying (Sabrina) M. ; Benson, Katherine A. ; Joli, Giancarlo ; Olinger, Eric ; Lavu, Sravanthi ; Madsen, Charles D. ; Gregory, Adriana V. ; Neatu, Ruxandra ; Kline, Timothy L. ; Audrézet, Marie-Pierre ; Outeda, Patricia ; Nau, Cherie B. ; Meijer, Esther ; Ali, Hamad ; Steinman, Theodore I. ; Mrug, Michal ; Phelan, Paul J. ; Watnick, Terry J. ; Peters, Dorien J.M. ; Ong, Albert C.M. ; Conlon, Peter J. ; Perrone, Ronald D. ; Cornec-Le Gall, Emilie ; Hogan, Marie C. ; Torres, Vicente E. ; Sayer, John A. ; Harris, Peter C.

American journal of human genetics, 2022-01, Vol.109 (1), p.136-156 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
6
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy

Cogné, Benjamin ; Latypova, Xenia ; Senaratne, Lokuliyanage Dona Samudita ; Martin, Ludovic ; Koboldt, Daniel C. ; Kellaris, Georgios ; Fievet, Lorraine ; Le Meur, Guylène ; Caldari, Dominique ; Debray, Dominique ; Nizon, Mathilde ; Frengen, Eirik ; Bowne, Sara J. ; Buckley, Reuben M. ; Aberdein, Danielle ; Alves, Paulo C. ; Barsh, Gregory S. ; Bellone, Rebecca R. ; Bergström, Tomas F. ; Boyko, Adam R. ; Brockman, Jeffrey A. ; Casal, Margret L. ; Castelhano, Marta G. ; Distl, Ottmar ; Dodman, Nicholas H. ; Ellinwood, N. Matthew ; Fogle, Jonathan E. ; Forman, Oliver P. ; Garrick, Dorian J. ; Ginns, Edward I. ; Häggström, Jens ; Harvey, Robert J. ; Hasegawa, Daisuke ; Haase, Bianca ; Helps, Christopher R. ; Hernandez, Isabel ; Hytönen, Marjo K. ; Kaukonen, Maria ; Kaelin, Christopher B. ; Kosho, Tomoki ; Leclerc, Emilie ; Lear, Teri L. ; Leeb, Tosso ; Li, Ronald H.L. ; Lohi, Hannes ; Longeri, Maria ; Magnuson, Mark A. ; Malik, Richard ; Mane, Shrinivas P. ; Munday, John S. ; Murphy, William J. ; Pedersen, Niels C. ; Rothschild, Max F. ; Rusbridge, Clare ; Shapiro, Beth ; Stern, Joshua A. ; Swanson, William F. ; Terio, Karen A. ; Todhunter, Rory J. ; Warren, Wesley C. ; Wilcox, Elizabeth A. ; Wildschutte, Julia H. ; Yu, Yoshihiko ; Cadena, Elizabeth L. ; Daiger, Stephen P. ; Bujakowska, Kinga M. ; Pierce, Eric A. ; Gorin, Michael ; Katsanis, Nicholas ; Bézieau, Stéphane ; Petersen-Jones, Simon M. ; Occelli, Laurence M. ; Lyons, Leslie A. ; Legeai-Mallet, Laurence ; Sullivan, Lori S. ; Davis, Erica E. ; Isidor, Bertrand

American journal of human genetics, 2020-06, Vol.106 (6), p.893-904 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
7
Pleiotropic Effects of CEP290 ( NPHP6) Mutations Extend to Meckel Syndrome
Pleiotropic Effects of CEP290 ( NPHP6) Mutations Extend to Meckel Syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Pleiotropic Effects of CEP290 ( NPHP6) Mutations Extend to Meckel Syndrome

Baala, Lekbir ; Audollent, Sophie ; Martinovic, Jéléna ; Ozilou, Catherine ; Babron, Marie-Claude ; Sivanandamoorthy, Sivanthiny ; Saunier, Sophie ; Salomon, Rémi ; Gonzales, Marie ; Rattenberry, Eleanor ; Esculpavit, Chantal ; Toutain, Annick ; Moraine, Claude ; Parent, Philippe ; Marcorelles, Pascale ; Dauge, Marie-Christine ; Roume, Joëlle ; Merrer, Martine Le ; Meiner, Vardiella ; Meir, Karen ; Menez, Françoise ; Beaufrère, Anne-Marie ; Francannet, Christine ; Tantau, Julia ; Sinico, Martine ; Dumez, Yves ; MacDonald, Fiona ; Munnich, Arnold ; Lyonnet, Stanislas ; Gubler, Marie-Claire ; Génin, Emmanuelle ; Johnson, Colin A. ; Vekemans, Michel ; Encha-Razavi, Férechté ; Attié-Bitach, Tania

American journal of human genetics, 2007-07, Vol.81 (1), p.170-179 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

Texto completo disponível

Citações Citado por
8
Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis

den Hollander, Anneke I. ; Koenekoop, Robert K. ; Yzer, Suzanne ; Lopez, Irma ; Arends, Maarten L. ; Voesenek, Krysta E.J. ; Zonneveld, Marijke N. ; Strom, Tim M. ; Meitinger, Thomas ; Brunner, Han G. ; Hoyng, Carel B. ; van den Born, L. Ingeborgh ; Rohrschneider, Klaus ; Cremers, Frans P.M.

American journal of human genetics, 2006-09, Vol.79 (3), p.556-561 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

Texto completo disponível

Citações Citado por
9
Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa
Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa
Material Type:
Artigo 		Adicionar ao Meu Espaço

Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa

Collin, Rob W.J. ; Littink, Karin W. ; Klevering, B. Jeroen ; van den Born, L. Ingeborgh ; Koenekoop, Robert K. ; Zonneveld, Marijke N. ; Blokland, Ellen A.W. ; Strom, Tim M. ; Hoyng, Carel B. ; den Hollander, Anneke I. ; Cremers, Frans P.M.

American journal of human genetics, 2008-11, Vol.83 (5), p.594-603 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

Texto completo disponível

Citações Citado por
10
Identification and Functional Consequences of a New Mutation (E155G) in the Gene for GCAP1 That Causes Autosomal Dominant Cone Dystrophy
Identification and Functional Consequences of a New Mutation (E155G) in the Gene for GCAP1 That Causes Autosomal Dominant Cone Dystrophy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Identification and Functional Consequences of a New Mutation (E155G) in the Gene for GCAP1 That Causes Autosomal Dominant Cone Dystrophy

Wilkie, Susan E. ; Li, Yang ; Deery, Evelyne C. ; Newbold, Richard J. ; Garibaldi, Daniel ; Bateman, J. Bronwyn ; Zhang, Heidi ; Lin, Wei ; Zack, Donald J. ; Bhattacharya, Shomi S. ; Warren, Martin J. ; Hunt, David M. ; Zhang, Kang

American journal of human genetics, 2001-09, Vol.69 (3), p.471-480 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

Texto completo disponível

Citações Citado por

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Data de Publicação 

De até
Refinar
  1. Antes de1999  (3)
  2. 1999Até2005  (2)
  3. 2006Até2007  (2)
  4. 2008Até2013  (4)
  5. Após 2013  (4)
  6. Mais opções open sub menu

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

Buscando em bases de dados remotas. Favor aguardar.