Works by Vilboux, Thierry

Results: 32
    1

    A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.

    Published in:
    Human Mutation, 2018, v. 39, n. 1, p. 69, doi. 10.1002/humu.23345
    By:
    • Malicdan, May Christine V.;
    • Vilboux, Thierry;
    • Ben‐Zeev, Bruria;
    • Guo, Jennifer;
    • Eliyahu, Aviva;
    • Pode‐Shakked, Ben;
    • Dori, Amir;
    • Kakani, Sravan;
    • Chandrasekharappa, Settara C.;
    • Ferreira, Carlos R.;
    • Shelestovich, Natalia;
    • Marek‐Yagel, Dina;
    • Pri‐Chen, Hadass;
    • Blatt, Ilan;
    • Niederhuber, John E.;
    • He, Langping;
    • Toro, Camilo;
    • Taylor, Robert W.;
    • Deeken, John;
    • Yardeni, Tal
    Publication type:
    Article
    2
    3

    Mutation Update for GNE Gene Variants Associated with GNE Myopathy.

    Published in:
    Human Mutation, 2014, v. 35, n. 8, p. 915, doi. 10.1002/humu.22583
    By:
    • Celeste, Frank V.;
    • Vilboux, Thierry;
    • Ciccone, Carla;
    • Dios, John Karl;
    • Malicdan, May Christine V.;
    • Leoyklang, Petcharat;
    • McKew, John C.;
    • Gahl, William A.;
    • Carrillo‐Carrasco, Nuria;
    • Huizing, Marjan
    Publication type:
    Article
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    NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet ?-granules.

    Published in:
    Nature Genetics, 2011, v. 43, n. 8, p. 732, doi. 10.1038/ng.883
    By:
    • Gunay-Aygun, Meral;
    • Falik-Zaccai, Tzipora C;
    • Vilboux, Thierry;
    • Zivony-Elboum, Yifat;
    • Gumruk, Fatma;
    • Cetin, Mualla;
    • Khayat, Morad;
    • Boerkoel, Cornelius F;
    • Kfir, Nehama;
    • Yan Huang;
    • Maynard, Dawn;
    • Dorward, Heidi;
    • Berger, Katherine;
    • Kleta, Robert;
    • Anikster, Yair;
    • Arat, Mutlu;
    • Freiberg, Andrew S.;
    • Kehrel, Beate E.;
    • Jurk, Kerstin;
    • Cruz, Pedro
    Publication type:
    Article
    7
    8

    A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 490, doi. 10.1002/ajmg.a.63049
    By:
    • Vocke, Cathy D.;
    • Fleming, Leah R.;
    • Piskorski, Anna M.;
    • Amin, Ali;
    • Phornphutkul, Chanika;
    • de la Monte, Suzanne;
    • Vilboux, Thierry;
    • Duncan, Folami;
    • Pellegrino, Joan;
    • Braddock, Bonnie;
    • Middelton, Lindsay A.;
    • Schmidt, Laura S.;
    • Merino, Maria J.;
    • Cowen, Edward W.;
    • Introne, Wendy J.;
    • Linehan, W. Marston;
    • Smith, Ann C. M.
    Publication type:
    Article
    9

    Cover Image, Volume 173A, Number 12, December 2017.

    Published in:
    2017
    By:
    • Hardee, Isabel;
    • Soldatos, Ariane;
    • Davids, Mariska;
    • Vilboux, Thierry;
    • Toro, Camilo;
    • David, Karen L.;
    • Ferreira, Carlos R.;
    • Nehrebecky, Michele;
    • Snow, Joseph;
    • Thurm, Audrey;
    • Heller, Theo;
    • Macnamara, Ellen F.;
    • Gunay‐Aygun, Meral;
    • Zein, Wadih M.;
    • Gahl, William A.;
    • Malicdan, May Christine V.
    Publication type:
    Other
    10

    Defective ciliogenesis in INPP5E-related Joubert syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3231, doi. 10.1002/ajmg.a.38376
    By:
    • Hardee, Isabel;
    • Soldatos, Ariane;
    • Davids, Mariska;
    • Vilboux, Thierry;
    • Toro, Camilo;
    • David, Karen L.;
    • Ferreira, Carlos R.;
    • Nehrebecky, Michele;
    • Snow, Joseph;
    • Thurm, Audrey;
    • Heller, Theo;
    • Macnamara, Ellen F.;
    • Gunay‐Aygun, Meral;
    • Zein, Wadih M.;
    • Gahl, William A.;
    • Malicdan, May Christine V.
    Publication type:
    Article
    11

    Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1796, doi. 10.1002/ajmg.a.38272
    By:
    • Summers, Angela C.;
    • Snow, Joseph;
    • Wiggs, Edythe;
    • Liu, Alexander G.;
    • Toro, Camilo;
    • Poretti, Andrea;
    • Zein, Wadih M.;
    • Brooks, Brian P.;
    • Parisi, Melissa A.;
    • Inati, Sara;
    • Doherty, Dan;
    • Vemulapalli, Meghana;
    • Mullikin, Jim C.;
    • Vilboux, Thierry;
    • Gahl, William A.;
    • Gunay‐Aygun, Meral
    Publication type:
    Article
    12

    CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 661, doi. 10.1002/ajmg.a.38005
    By:
    • Vilboux, Thierry;
    • Malicdan, May Christine V.;
    • Roney, Joseph C.;
    • Cullinane, Andrew R.;
    • Stephen, Joshi;
    • Yildirimli, Deniz;
    • Bryant, Joy;
    • Fischer, Roxanne;
    • Vemulapalli, Meghana;
    • Mullikin, James C.;
    • Steinbach, Peter J.;
    • Gahl, William A.;
    • Gunay‐Aygun, Meral
    Publication type:
    Article
    13
    14

    Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.

    Published in:
    2017
    By:
    • Barel, Ortal;
    • Malicdan, May Christine V.;
    • Ben-Zeev, Bruria;
    • Kandel, Judith;
    • Pri-Chen, Hadass;
    • Stephen, Joshi;
    • Castro, Inês G.;
    • Metz, Jeremy;
    • Atawa, Osama;
    • Moshkovitz, Sharon;
    • Ganelin, Eti;
    • Barshack, Iris;
    • Polak-Charcon, Sylvie;
    • Nass, Dvora;
    • Marek-Yagel, Dina;
    • Amariglio, Ninette;
    • Shalva, Nechama;
    • Vilboux, Thierry;
    • Ferreira, Carlos;
    • Pode-Shakked, Ben
    Publication type:
    journal article
    15

    Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy.

    Published in:
    2017
    By:
    • Falik Zaccai, Tzipora C.;
    • Savitzki, David;
    • Zivony-Elboum, Yifat;
    • Vilboux, Thierry;
    • Fitts, Eric C.;
    • Shoval, Yishay;
    • Kalfon, Limor;
    • Samra, Nadra;
    • Keren, Zohar;
    • Gross, Bella;
    • Chasnyk, Natalia;
    • Straussberg, Rachel;
    • Mullikin, James C.;
    • Teer, Jamie K.;
    • Geiger, Dan;
    • Kornitzer, Daniel;
    • Bitterman-Deutsch, Ora;
    • Samson, Abraham O.;
    • Maki Wakamiya;
    • Peterson, Johnny W.
    Publication type:
    journal article
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    Automated, high-throughput derivation, characterization and differentiation of induced pluripotent stem cells.

    Published in:
    Nature Methods, 2015, v. 12, n. 9, p. 885, doi. 10.1038/nmeth.3507
    By:
    • Paull, Daniel;
    • Sevilla, Ana;
    • Zhou, Hongyan;
    • Hahn, Aana Kim;
    • Kim, Hesed;
    • Napolitano, Christopher;
    • Tsankov, Alexander;
    • Shang, Linshan;
    • Krumholz, Katie;
    • Jagadeesan, Premlatha;
    • Woodard, Chris M;
    • Sun, Bruce;
    • Vilboux, Thierry;
    • Zimmer, Matthew;
    • Forero, Eliana;
    • Moroziewicz, Dorota N;
    • Martinez, Hector;
    • Malicdan, May Christine V;
    • Weiss, Keren A;
    • Vensand, Lauren B
    Publication type:
    Article
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    28

    Progressive Retinal Atrophy in the Border Collie: A new XLPRA.

    Published in:
    BMC Veterinary Research, 2008, v. 4, p. 1, doi. 10.1186/1746-6148-4-10
    By:
    • Vilboux, Thierry;
    • Chaudieu, Gilles;
    • Jeannin, Patricia;
    • Delattre, Delphine;
    • Hedan, Benoit;
    • Bourgain, Catherine;
    • Queney, Guillaume;
    • Galibert, Francis;
    • Thomas, Anne;
    • André, Catherine
    Publication type:
    Article
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    Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.

    Published in:
    Human Genetics, 2017, v. 136, n. 4, p. 399, doi. 10.1007/s00439-017-1765-z
    By:
    • Vilboux, Thierry;
    • Gahl, William;
    • Malicdan, May;
    • Gunay-Aygun, Meral;
    • Stephen, Joshi;
    • Kuptanon, Chulaluck;
    • Sinclair, Courtney;
    • Yildirimli, Deniz;
    • Maynard, Dawn;
    • Bryant, Joy;
    • Fischer, Roxanne;
    • Huizing, Marjan;
    • Mian, Luhe;
    • Vemulapalli, Meghana;
    • Mullikin, James
    Publication type:
    Article
    32