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Refinado por: Nome da Publicação: American Journal Of Human Genetics remover assunto: Mutation - Genetics remover Humans remover
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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
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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

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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
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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

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3
Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome
Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome
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Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome

Pierce, Sarah B. ; Walsh, Tom ; Chisholm, Karen M. ; Lee, Ming K. ; Thornton, Anne M. ; Fiumara, Agata ; Opitz, John M. ; Levy-Lahad, Ephrat ; Klevit, Rachel E. ; King, Mary-Claire

American journal of human genetics, 2010-08, Vol.87 (2), p.282-288 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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4
Retinal Dehydrogenase 12 ( RDH12) Mutations in Leber Congenital Amaurosis
Retinal Dehydrogenase 12 ( RDH12) Mutations in Leber Congenital Amaurosis
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Retinal Dehydrogenase 12 ( RDH12) Mutations in Leber Congenital Amaurosis

Perrault, Isabelle ; Hanein, Sylvain ; Gerber, Sylvie ; Barbet, Fabienne ; Ducroq, Dominique ; Dollfus, Helene ; Hamel, Christian ; Dufier, Jean-Louis ; Munnich, Arnold ; Kaplan, Josseline ; Rozet, Jean-Michel

American journal of human genetics, 2004-10, Vol.75 (4), p.639-646 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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5
Different Functional Outcome of RetGC1 and RPE65 Gene Mutations in Leber Congenital Amaurosis
Different Functional Outcome of RetGC1 and RPE65 Gene Mutations in Leber Congenital Amaurosis
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Different Functional Outcome of RetGC1 and RPE65 Gene Mutations in Leber Congenital Amaurosis

Perrault, Isabelle ; Rozet, Jean-Michel ; Ghazi, Imad ; Leowski, Corinne ; Bonnemaison, Michèle ; Gerber, Sylvie ; Ducroq, Dominique ; Cabot, Annick ; Souied, Eric ; Dufier, Jean-Louis ; Munnich, Arnold ; Kaplan, Josseline

American journal of human genetics, 1999-04, Vol.64 (4), p.1225-1228 [Periódico revisado por pares]

United States: Elsevier Inc

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6
The ABCA4 Gene in Autosomal Recessive Cone-Rod Dystrophies
The ABCA4 Gene in Autosomal Recessive Cone-Rod Dystrophies
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The ABCA4 Gene in Autosomal Recessive Cone-Rod Dystrophies

Ducroq, Dominique ; Rozet, Jean-Michel ; Gerber, Sylvie ; Perrault, Isabelle ; Barbet, Fabienne ; Hanein, Sylvain ; Hakiki, Selim ; Dufier, Jean-Louis ; Munnich, Arnold ; Hamel, Christian ; Kaplan, Josseline

American journal of human genetics, 2002-12, Vol.71 (6), p.1480-1482 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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7
Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect
Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect
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Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect

Simons, Cas ; Griffin, Laurie B. ; Helman, Guy ; Golas, Gretchen ; Pizzino, Amy ; Bloom, Miriam ; Murphy, Jennifer L.P. ; Crawford, Joanna ; Evans, Sarah H. ; Topper, Scott ; Whitehead, Matthew T. ; Schreiber, John M. ; Chapman, Kimberly A. ; Tifft, Cyndi ; Lu, Katrina B. ; Gamper, Howard ; Shigematsu, Megumi ; Taft, Ryan J. ; Antonellis, Anthony ; Hou, Ya-Ming ; Vanderver, Adeline

American journal of human genetics, 2015-04, Vol.96 (4), p.675-681 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 ( CRB1) Gene
Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 ( CRB1) Gene
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Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 ( CRB1) Gene

Hollander, Anneke I. den ; Heckenlively, John R. ; van den Born, L. Ingeborgh ; de Kok, Yvette J.M. ; van der Velde-Visser, Saskia D. ; Kellner, Ulrich ; Jurklies, Bernhard ; van Schooneveld, Mary J. ; Blankenagel, Anita ; Rohrschneider, Klaus ; Wissinger, Bernd ; Cruysberg, Johan R.M. ; Deutman, August F. ; Brunner, Han G. ; Apfelstedt-Sylla, Eckart ; Hoyng, Carel B. ; Cremers, Frans P.M.

American journal of human genetics, 2001-07, Vol.69 (1), p.198-203 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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9
Retinal Dystrophy Due to Paternal Isodisomy for Chromosome 1 or Chromosome 2, with Homoallelism for Mutations in RPE65 or MERTK, Respectively
Retinal Dystrophy Due to Paternal Isodisomy for Chromosome 1 or Chromosome 2, with Homoallelism for Mutations in RPE65 or MERTK, Respectively
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Retinal Dystrophy Due to Paternal Isodisomy for Chromosome 1 or Chromosome 2, with Homoallelism for Mutations in RPE65 or MERTK, Respectively

Thompson, Debra A. ; McHenry, Christina L. ; Li, Yun ; Richards, Julia E. ; Othman, Mohammad I. ; Schwinger, Eberhard ; Vollrath, Douglas ; Jacobson, Samuel G. ; Gal, Andreas

American journal of human genetics, 2002-01, Vol.70 (1), p.224-229 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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10
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease
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Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease

Albert, Silvia ; Garanto, Alejandro ; Sangermano, Riccardo ; Khan, Mubeen ; Bax, Nathalie M. ; Hoyng, Carel B. ; Zernant, Jana ; Lee, Winston ; Allikmets, Rando ; Collin, Rob W.J. ; Cremers, Frans P.M.

American journal of human genetics, 2018-04, Vol.102 (4), p.517-527 [Periódico revisado por pares]

United States: Elsevier Inc

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