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Refinado por: Nome da Publicação: Human Mutation remover assunto: Humans remover
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1
Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
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Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

Pettersson, Maria ; Vaz, Raquel ; Hammarsjö, Anna ; Eisfeldt, Jesper ; Carvalho, Claudia M.B. ; Hofmeister, Wolfgang ; Tham, Emma ; Horemuzova, Eva ; Voss, Ulrika ; Nishimura, Gen ; Klintberg, Bo ; Nordgren, Ann ; Nilsson, Daniel ; Grigelioniene, Giedre ; Lindstrand, Anna

Human mutation, 2018-10, Vol.39 (10), p.1456-1467 [Periódico revisado por pares]

United States: Hindawi Limited

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2
Whole‐genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140
Whole‐genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140
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Whole‐genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140

Geoffroy, Véronique ; Stoetzel, Corinne ; Scheidecker, Sophie ; Schaefer, Elise ; Perrault, Isabelle ; Bär, Séverine ; Kröll, Ariane ; Delbarre, Marion ; Antin, Manuela ; Leuvrey, Anne‐Sophie ; Henry, Charline ; Blanché, Hélène ; Decker, Eva ; Kloth, Katja ; Klaus, Günter ; Mache, Christoph ; Martin‐Coignard, Dominique ; McGinn, Steven ; Boland, Anne ; Deleuze, Jean‐François ; Friant, Sylvie ; Saunier, Sophie ; Rozet, Jean‐Michel ; Bergmann, Carsten ; Dollfus, Hélène ; Muller, Jean

Human mutation, 2018-07, Vol.39 (7), p.983-992 [Periódico revisado por pares]

United States: Hindawi Limited

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3
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies
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Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies

Zhang, Wenjuan ; Taylor, S. Paige ; Ennis, Hayley A. ; Forlenza, Kimberly N. ; Duran, Ivan ; Li, Bing ; Sanchez, Jorge A. Ortiz ; Nevarez, Lisette ; Nickerson, Deborah A. ; Bamshad, Michael ; Lachman, Ralph S. ; Krakow, Deborah ; Cohn, Daniel H.

Human mutation, 2018-01, Vol.39 (1), p.152-166 [Periódico revisado por pares]

United States: Hindawi Limited

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4
MiSynPat: An integrated knowledge base linking clinical, genetic, and structural data for disease‐causing mutations in human mitochondrial aminoacyl‐tRNA synthetases
MiSynPat: An integrated knowledge base linking clinical, genetic, and structural data for disease‐causing mutations in human mitochondrial aminoacyl‐tRNA synthetases
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MiSynPat: An integrated knowledge base linking clinical, genetic, and structural data for disease‐causing mutations in human mitochondrial aminoacyl‐tRNA synthetases

Moulinier, Luc ; Ripp, Raymond ; Castillo, Gaston ; Poch, Olivier ; Sissler, Marie

Human mutation, 2017-10, Vol.38 (10), p.1316-1324 [Periódico revisado por pares]

United States: Hindawi Limited

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5
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias
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Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias

Marelli, Cecilia ; Guissart, Claire ; Hubsch, Cecile ; Renaud, Mathilde ; Villemin, Jean-Philippe ; Larrieu, Lise ; Charles, Perrine ; Ayrignac, Xavier ; Sacconi, Sabrina ; Collignon, Patrick ; Cuntz-Shadfar, Danielle ; Perrin, Laurine ; Benarrosh, Anelia ; Degardin, Adrian ; Lagha-Boukbiza, Ouhaïd ; Mutez, Eugenie ; Carlander, Bertrand ; Morales, Raul Juntas ; Gonzalez, Victoria ; Carra-Dalliere, Clarisse ; Azakri, Souhayla ; Mignard, Claude ; Ollagnon, Elisabeth ; Pageot, Nicolas ; Chretien, Dominique ; Geny, Christian ; Azulay, Jean-Philippe ; Tranchant, Christine ; Claustres, Mireille ; Labauge, Pierre ; Anheim, Mathieu ; Goizet, Cyril ; Calvas, Patrick ; Koenig, Michel

Human mutation, 2016-12, Vol.37 (12), p.1340-1353 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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6
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature
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An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

Lerat, Justine ; Jonard, Laurence ; Loundon, Natalie ; Christin-Maitre, Sophie ; Lacombe, Didier ; Goizet, Cyril ; Rouzier, Cécile ; Van Maldergem, Lionel ; Gherbi, Souad ; Garabedian, Eréa-Nöel ; Bonnefont, Jean- Paul ; Touraine, Philippe ; Mosnier, Isabelle ; Munnich, Arnold ; Denoyelle, Françoise ; Marlin, Sandrine

Human mutation, 2016-12, Vol.37 (12), p.1354-1362 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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7
MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform
MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform
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MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform

Grati, M'hamed ; Yan, Denise ; Raval, Manmeet H. ; Walsh, Tom ; Ma, Qi ; Chakchouk, Imen ; Kannan-Sundhari, Abhiraami ; Mittal, Rahul ; Masmoudi, Saber ; Blanton, Susan H. ; Tekin, Mustafa ; King, Mary-Claire ; Yengo, Christopher M. ; Liu, Xue Zhong

Human mutation, 2016-05, Vol.37 (5), p.481-487 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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8
Differential Dimerization of Variants Linked to Enhanced S-Cone Sensitivity Syndrome (ESCS) Located in the NR2E3 Ligand-Binding Domain
Differential Dimerization of Variants Linked to Enhanced S-Cone Sensitivity Syndrome (ESCS) Located in the NR2E3 Ligand-Binding Domain
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Differential Dimerization of Variants Linked to Enhanced S-Cone Sensitivity Syndrome (ESCS) Located in the NR2E3 Ligand-Binding Domain

von Alpen, Désirée ; Tran, Hoai Viet ; Guex, Nicolas ; Venturini, Giulia ; Munier, Francis L. ; Schorderet, Daniel F. ; Haider, Neena B. ; Escher, Pascal

Human mutation, 2015-06, Vol.36 (6), p.599-610 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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9
Novel, Compound Heterozygous, Single-Nucleotide Variants in MARS2 Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss
Novel, Compound Heterozygous, Single-Nucleotide Variants in MARS2 Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss
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Novel, Compound Heterozygous, Single-Nucleotide Variants in MARS2 Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss

Webb, Bryn D. ; Wheeler, Patricia G. ; Hagen, Jacob J. ; Cohen, Ninette ; Linderman, Michael D. ; Diaz, George A. ; Naidich, Thomas P. ; Rodenburg, Richard J. ; Houten, Sander M. ; Schadt, Eric E.

Human mutation, 2015-06, Vol.36 (6), p.587-592 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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10
Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl-tRNA Synthetase (NARS2)
Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl-tRNA Synthetase (NARS2)
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Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl-tRNA Synthetase (NARS2)

Vanlander, Arnaud V. ; Menten, Björn ; Smet, Joél ; De Meirleir, Linda ; Sante, Tom ; De Paepe, Boel ; Seneca, Sara ; Pearce, Sarah F. ; Powell, Christopher A. ; Vergult, Sarah ; Michotte, Alex ; De Latter, Elien ; Vantomme, Lies ; Minczuk, Michal ; Van Coster, Rudy

Human mutation, 2015-02, Vol.36 (2), p.222-231 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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