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Refinado por: Nome da Publicação: American Journal Of Human Genetics remover assunto: Child remover assunto: Male remover
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Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
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Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Bredrup, Cecilie ; Saunier, Sophie ; Oud, Machteld M. ; Fiskerstrand, Torunn ; Hoischen, Alexander ; Brackman, Damien ; Leh, Sabine M. ; Midtbø, Marit ; Filhol, Emilie ; Bole-Feysot, Christine ; Nitschké, Patrick ; Gilissen, Christian ; Haugen, Olav H. ; Sanders, Jan-Stephan F. ; Stolte-Dijkstra, Irene ; Mans, Dorus A. ; Steenbergen, Eric J. ; Hamel, Ben C.J. ; Matignon, Marie ; Pfundt, Rolph ; Jeanpierre, Cécile ; Boman, Helge ; Rødahl, Eyvind ; Veltman, Joris A. ; Knappskog, Per M. ; Knoers, Nine V.A.M. ; Roepman, Ronald ; Arts, Heleen H.

American journal of human genetics, 2011-11, Vol.89 (5), p.634-643 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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2
Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect
Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect
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Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

Antonicka, Hana ; Østergaard, Elsebet ; Sasarman, Florin ; Weraarpachai, Woranontee ; Wibrand, Flemming ; Pedersen, Anne Marie B. ; Rodenburg, Richard J. ; van der Knaap, Marjo S. ; Smeitink, Jan A.M. ; Chrzanowska-Lightowlers, Zofia M. ; Shoubridge, Eric A.

American journal of human genetics, 2010-07, Vol.87 (1), p.115-122 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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3
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
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ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Cuvertino, Sara ; Stuart, Helen M. ; Chandler, Kate E. ; Roberts, Neil A. ; Armstrong, Ruth ; Bernardini, Laura ; Bhaskar, Sanjeev ; Callewaert, Bert ; Clayton-Smith, Jill ; Davalillo, Cristina Hernando ; Deshpande, Charu ; Devriendt, Koenraad ; Digilio, Maria C. ; Dixit, Abhijit ; Edwards, Matthew ; Friedman, Jan M. ; Gonzalez-Meneses, Antonio ; Joss, Shelagh ; Kerr, Bronwyn ; Lampe, Anne Katrin ; Langlois, Sylvie ; Lennon, Rachel ; Loget, Philippe ; Ma, David Y.T. ; McGowan, Ruth ; Des Medt, Maryse ; O’Sullivan, James ; Odent, Sylvie ; Parker, Michael J. ; Pebrel-Richard, Céline ; Petit, Florence ; Stark, Zornitza ; Stockler-Ipsiroglu, Sylvia ; Tinschert, Sigrid ; Vasudevan, Pradeep ; Villa, Olaya ; White, Susan M. ; Zahir, Farah R. ; Woolf, Adrian S. ; Banka, Siddharth

American journal of human genetics, 2017-12, Vol.101 (6), p.1021-1033 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia
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Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

Schuurs-Hoeijmakers, Janneke H M ; Geraghty, Michael T ; Kamsteeg, Erik-Jan ; Ben-Salem, Salma ; de Bot, Susanne T ; Nijhof, Bonnie ; van de Vondervoort, Ilse I G M ; van der Graaf, Marinette ; Nobau, Anna Castells ; Otte-Höller, Irene ; Vermeer, Sascha ; Smith, Amanda C ; Humphreys, Peter ; Schwartzentruber, Jeremy ; Ali, Bassam R ; Al-Yahyaee, Saeed A ; Tariq, Said ; Pramathan, Thachillath ; Bayoumi, Riad ; Kremer, Hubertus P H ; van de Warrenburg, Bart P ; van den Akker, Willem M R ; Gilissen, Christian ; Veltman, Joris A ; Janssen, Irene M ; Vulto-van Silfhout, Anneke T ; van der Velde-Visser, Saskia ; Lefeber, Dirk J ; Diekstra, Adinda ; Erasmus, Corrie E ; Willemsen, Michèl A ; Vissers, Lisenka E L M ; Lammens, Martin ; van Bokhoven, Hans ; Brunner, Han G ; Wevers, Ron A ; Schenck, Annette ; Al-Gazali, Lihadh ; de Vries, Bert B A ; de Brouwer, Arjan P M

American journal of human genetics, 2012-12, Vol.91 (6), p.1073-1081 [Periódico revisado por pares]

United States

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5
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions
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De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

Mencacci, Niccolò E. ; Kamsteeg, Erik-Jan ; Nakashima, Kosuke ; R’Bibo, Lea ; Lynch, David S. ; Balint, Bettina ; Willemsen, Michèl A.A.P. ; Adams, Matthew E. ; Wiethoff, Sarah ; Suzuki, Kazunori ; Davies, Ceri H. ; Ng, Joanne ; Meyer, Esther ; Veneziano, Liana ; Giunti, Paola ; Hughes, Deborah ; Raymond, F. Lucy ; Carecchio, Miryam ; Zorzi, Giovanna ; Nardocci, Nardo ; Barzaghi, Chiara ; Garavaglia, Barbara ; Salpietro, Vincenzo ; Hardy, John ; Pittman, Alan M. ; Houlden, Henry ; Kurian, Manju A. ; Kimura, Haruhide ; Vissers, Lisenka E.L.M. ; Wood, Nicholas W. ; Bhatia, Kailash P.

American journal of human genetics, 2016-04, Vol.98 (4), p.763-771 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome
Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome
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Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

Mayr, Johannes A. ; Haack, Tobias B. ; Graf, Elisabeth ; Zimmermann, Franz A. ; Wieland, Thomas ; Haberberger, Birgit ; Superti-Furga, Andrea ; Kirschner, Janbernd ; Steinmann, Beat ; Baumgartner, Matthias R. ; Moroni, Isabella ; Lamantea, Eleonora ; Zeviani, Massimo ; Rodenburg, Richard J. ; Smeitink, Jan ; Strom, Tim M. ; Meitinger, Thomas ; Sperl, Wolfgang ; Prokisch, Holger

American journal of human genetics, 2012-02, Vol.90 (2), p.314-320 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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7
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Koczkowska, Magdalena ; Chen, Yunjia ; Callens, Tom ; Gomes, Alicia ; Sharp, Angela ; Johnson, Sherrell ; Hsiao, Meng-Chang ; Chen, Zhenbin ; Balasubramanian, Meena ; Barnett, Christopher P. ; Becker, Troy A. ; Ben-Shachar, Shay ; Bertola, Debora R. ; Blakeley, Jaishri O. ; Burkitt-Wright, Emma M.M. ; Callaway, Alison ; Crenshaw, Melissa ; Cunha, Karin S. ; Cunningham, Mitch ; D’Agostino, Maria D. ; Dahan, Karin ; De Luca, Alessandro ; Destrée, Anne ; Dhamija, Radhika ; Eoli, Marica ; Evans, D. Gareth R. ; Galvin-Parton, Patricia ; George-Abraham, Jaya K. ; Gripp, Karen W. ; Guevara-Campos, Jose ; Hanchard, Neil A. ; Hernández-Chico, Concepcion ; Immken, LaDonna ; Janssens, Sandra ; Jones, Kristi J. ; Keena, Beth A. ; Kochhar, Aaina ; Liebelt, Jan ; Martir-Negron, Arelis ; Mahoney, Maurice J. ; Maystadt, Isabelle ; McDougall, Carey ; McEntagart, Meriel ; Mendelsohn, Nancy ; Miller, David T. ; Mortier, Geert ; Morton, Jenny ; Pappas, John ; Plotkin, Scott R. ; Pond, Dinel ; Rosenbaum, Kenneth ; Rubin, Karol ; Russell, Laura ; Rutledge, Lane S. ; Saletti, Veronica ; Schonberg, Rhonda ; Schreiber, Allison ; Seidel, Meredith ; Siqveland, Elizabeth ; Stockton, David W. ; Trevisson, Eva ; Ullrich, Nicole J. ; Upadhyaya, Meena ; van Minkelen, Rick ; Verhelst, Helene ; Wallace, Margaret R. ; Yap, Yoon-Sim ; Zackai, Elaine ; Zonana, Jonathan ; Zurcher, Vickie ; Claes, Kathleen ; Martin, Yolanda ; Korf, Bruce R. ; Legius, Eric ; Messiaen, Ludwine M.

American journal of human genetics, 2018-01, Vol.102 (1), p.69-87 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities
Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities
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Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities

Boudin, Eveline ; de Jong, Tjeerd R. ; Prickett, Tim C.R. ; Lapauw, Bruno ; Toye, Kaatje ; Van Hoof, Viviane ; Luyckx, Ilse ; Verstraeten, Aline ; Heymans, Hugo S.A. ; Dulfer, Eelco ; Van Laer, Lut ; Berry, Ian R. ; Dobbie, Angus ; Blair, Ed ; Loeys, Bart ; Espiner, Eric A. ; Wit, Jan M. ; Van Hul, Wim ; Houpt, Peter ; Mortier, Geert R.

American journal of human genetics, 2018-08, Vol.103 (2), p.288-295 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy
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Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

Haack, Tobias B. ; Ignatius, Erika ; Calvo-Garrido, Javier ; Iuso, Arcangela ; Isohanni, Pirjo ; Maffezzini, Camilla ; Lönnqvist, Tuula ; Suomalainen, Anu ; Gorza, Matteo ; Kremer, Laura S. ; Graf, Elisabeth ; Hartig, Monika ; Berutti, Riccardo ; Paucar, Martin ; Svenningsson, Per ; Stranneheim, Henrik ; Brandberg, Göran ; Wedell, Anna ; Kurian, Manju A. ; Hayflick, Susan A. ; Venco, Paola ; Tiranti, Valeria ; Strom, Tim M. ; Dichgans, Martin ; Horvath, Rita ; Holinski-Feder, Elke ; Freyer, Christoph ; Meitinger, Thomas ; Prokisch, Holger ; Senderek, Jan ; Wredenberg, Anna ; Carroll, Christopher J. ; Klopstock, Thomas

American journal of human genetics, 2016-09, Vol.99 (3), p.735-743 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis
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Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

Mattioli, Francesca ; Schaefer, Elise ; Magee, Alex ; Mark, Paul ; Mancini, Grazia M. ; Dieterich, Klaus ; Von Allmen, Gretchen ; Alders, Marielle ; Coutton, Charles ; van Slegtenhorst, Marjon ; Vieville, Gaëlle ; Engelen, Mark ; Cobben, Jan Maarten ; Juusola, Jane ; Pujol, Aurora ; Mandel, Jean-Louis ; Piton, Amélie

American journal of human genetics, 2017-01, Vol.100 (1), p.105-116 [Periódico revisado por pares]

United States: Elsevier Inc

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