Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome

Por Bakker, Jaap A., Schlesser, Patrick, Smeets, Hubert J. M., Francois, Baudouin, Bierau, Jörgen
Publicado em 2010

Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation system

Por van der Lee, Robin, Szklarczyk, Radek, Smeitink, Jan, Smeets, Hubert J M, Huynen, Martijn A., Vogel, Rutger
Publicado no BMC Genomics (2015)

Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy

Por Nguyen, Minh, Boesten, Iris, Hellebrekers, Debby M E I, Vanoevelen, Jo, Kamps, Rick, de Koning, Bart, de Coo, Irenaeus F M, Gerards, Mike, Smeets, Hubert J M
Publicado no Eur J Hum Genet (2016)

Different distribution of the genetic subtypes of the Prader–Willi syndrome in the elderly

Por Sinnema, Margje, van Roozendaal, Kees E P, Maaskant, Marian A, Smeets, Hubert J M, Engelen, John J M, Jonker-Houben, Nieke, Schrander-Stumpel, Constance T R M, Curfs, Leopold M G
Publicado em 2010

SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations

Por van Uum, Chris MJ, Stevens, Servi JC, Dreesen, Joseph CFM, Drüsedau, Marion, Smeets, Hubert J, Hollanders-Crombach, Bertien, Die-Smulders, Christine EM de, Geraedts, Joep PM, Engelen, John JM, Coonen, Edith
Publicado em 2012

Myelin-Derived Lipids Modulate Macrophage Activity by Liver X Receptor Activation

Por Bogie, Jeroen F. J., Timmermans, Silke, Huynh-Thu, Vân Anh, Irrthum, Alexandre, Smeets, Hubert J. M., Gustafsson, Jan-Åke, Steffensen, Knut R., Mulder, Monique, Stinissen, Piet, Hellings, Niels, Hendriks, Jerome J. A.
Publicado em 2012

Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography

Por van den Bosch, Bianca J. C., de Coo, René F. M., Scholte, Hans R., Nijland, Jeroen G., van den Bogaard, Ruud, de Visser, Marianne, de Die-Smulders, Christine E. M., Smeets, Hubert J. M.
Publicado em 2000

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

Por Hellebrekers, Debby M E I, Sallevelt, Suzanne C E H, Theunissen, Tom E J, Hendrickx, Alexandra T M, Gottschalk, Ralph W, Hoeijmakers, Janneke G J, Habets, Daphna D, Bierau, Jörgen, Schoonderwoerd, Kees G, Smeets, Hubert J M
Publicado no Eur J Hum Genet (2017)

Replication Errors Made During Oogenesis Lead to Detectable De Novo mtDNA Mutations in Zebrafish Oocytes with a Low mtDNA Copy Number

Por Otten, Auke B. C., Stassen, Alphons P. M., Adriaens, Michiel, Gerards, Mike, Dohmen, Richard G. J., Timmer, Adriana J., Vanherle, Sabina J. V., Kamps, Rick, Boesten, Iris B. W., Vanoevelen, Jo M., Muller, Marc, Smeets, Hubert J. M.
Publicado no Genetics (2016)

Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder

Por Hudson, Gavin, Keers, Sharon, Man, Patrick Yu Wai, Griffiths, Philip, Huoponen, Kirsi, Savontaus, Marja-Liisa, Nikoskelainen, Eeva, Zeviani, Massimo, Carrara, Franco, Horvath, Rita, Karcagi, Veronika, Spruijt, Liesbeth, Coo, I. F. M. de, Smeets, Hubert J. M., Chinnery, Patrick F.
Publicado em 2005

De novo mtDNA point mutations are common and have a low recurrence risk

Por Sallevelt, Suzanne C E H, de Die-Smulders, Christine E M, Hendrickx, Alexandra T M, Hellebrekers, Debby M E I, de Coo, Irenaeus F M, Alston, Charlotte L, Knowles, Charlotte, Taylor, Robert W, McFarland, Robert, Smeets, Hubert J M
Publicado no J Med Genet (2017)

The Mutational Spectrum of Holoprosencephaly-Associated Changes within the SHH Gene in Humans Predicts Loss-of-Function Through Either Key Structural Alterations of the Ligand or I...

Por Roessler, Erich, El-Jaick, Kenia B., Dubourg, Christèle, Vélez, Jorge I., Solomon, Benjamin D., Pineda-Álvarez, Daniel E., Lacbawan, Felicitas, Zhou, Nan, Ouspenskaia, Maia, Paulussen, Aimée, Smeets, Hubert J., Hehr, Ute, Bendavid, Claude, Bale, Sherri, Odent, Sylvie, David, Véronique, Muenke, Maximilian
Publicado em 2009

PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers

Por Drüsedau, Marion, Dreesen, Jos C, Derks-Smeets, Inge, Coonen, Edith, van Golde, Ron, van Echten-Arends, Jannie, Kastrop, Peter M M, Blok, Marinus J, Gómez-García, Encarna, Geraedts, Joep P, Smeets, Hubert J, de Die-Smulders, Christine E, Paulussen, Aimée D
Publicado em 2013

Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene

Por van Rij, Maartje C., Jansen, Fenna A. R., Hellebrekers, Debby M. E. I., Onkenhout, W., Smeets, Hubert J. M., Hendrickx, Alexandra T., Gottschalk, Ralph W. H., Steggerda, Sylke J., Peeters‐Scholte, Cacha M. P. C. D., Haak, Monique C., Hilhorst‐Hofstee, Yvonne
Publicado no Clin Case Rep (2016)

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

Por Wilson, Ian J., Carling, Phillipa J., Alston, Charlotte L., Floros, Vasileios I., Pyle, Angela, Hudson, Gavin, Sallevelt, Suzanne C.E.H., Lamperti, Costanza, Carelli, Valerio, Bindoff, Laurence A., Samuels, David C., Wonnapinij, Passorn, Zeviani, Massimo, Taylor, Robert W., Smeets, Hubert J.M., Horvath, Rita, Chinnery, Patrick F
Publicado no Hum Mol Genet (2016)

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

Por Theunissen, Tom E. J., Szklarczyk, Radek, Gerards, Mike, Hellebrekers, Debby M. E. I., Mulder-Den Hartog, Elvira N. M., Vanoevelen, Jo, Kamps, Rick, de Koning, Bart, Rutledge, S. Lane, Schmitt-Mechelke, Thomas, van Berkel, Carola G. M., van der Knaap, Marjo S., de Coo, Irenaeus F. M., Smeets, Hubert J. M.
Publicado no Front Neurol (2016)

Rare novel variants in the ZIC3 gene cause X-linked heterotaxy

Por Paulussen, Aimee D C, Steyls, Anja, Vanoevelen, Jo, van Tienen, Florence HJ, Krapels, Ingrid P C, Claes, Godelieve RF, Chocron, Sonja, Velter, Crool, Tan-Sindhunata, Gita M, Lundin, Catarina, Valenzuela, Irene, Nagy, Balint, Bache, Iben, Maroun, Lisa Leth, Avela, Kristiina, Brunner, Han G, Smeets, Hubert J M, Bakkers, Jeroen, van den Wijngaard, Arthur
Publicado no Eur J Hum Genet (2016)

Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background

Por Hudson, Gavin , Carelli, Valerio , Spruijt, Liesbeth , Gerards, Mike , Mowbray, Catherine , Achilli, Alessandro , Pyle, Angela , Elson, Joanna , Howell, Neil , La Morgia, Chiara , Valentino, Maria Lucia , Huoponen, Kirsi , Savontaus, Marja-Liisa , Nikoskelainen, Eeva , Sadun, Alfredo A. , Salomao, Solange R. , Belfort Jr., Rubens , Griffiths, Philip , Man, Patrick Yu Wai , de Coo, Rene F. M. , Horvath, Rita , Zeviani, Massimo , Smeets, Hubert J. T. , Torroni, Antonio , Chinnery, Patrick F. 
Publicado em 2007

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31

Por Beetz, Christian, Schüle, Rebecca, Deconinck, Tine, Tran-Viet, Khanh-Nhat, Zhu, Hui, Kremer, Berry P. H., Frints, Suzanna G. M., van Zelst-Stams, Wendy A. G., Byrne, Paula, Otto, Susanne, Nygren, Anders O. H., Baets, Jonathan, Smets, Katrien, Ceulemans, Berten, Dan, Bernard, Nagan, Narasimhan, Kassubek, Jan, Klimpe, Sven, Klopstock, Thomas, Stolze, Henning, Smeets, Hubert J. M., Schrander-Stumpel, Constance T. R. M., Hutchinson, Michael, van de Warrenburg, Bart P., Braastad, Corey, Deufel, Thomas, Pericak-Vance, Margaret, Schöls, Ludger, de Jonghe, Peter, Züchner, Stephan
Publicado em 2008

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

Por Solomon, Benjamin D., Lacbawan, Felicitas, Mercier, Sandra, Clegg, Nancy J., Delgado, Mauricio R., Rosenbaum, Kenneth, Dubourg, Christèle, David, Véronique, Olney, Ann Haskins, Wehner, Lars-Erik, Hehr, Ute, Bale, Sherri, Paulussen, Aimee, Smeets, Hubert J., Hardisty, Emily, Tylki-Szymanska, Anna, Pronicka, Ewa, Clemens, Michelle, Mcpherson, Elizabeth, Hennekam, Raoul Cm, Hahn, Jin, Stashinko, Elaine, Levey, Eric, Wieczorek, Dagmar, Roeder, Elizabeth, Schell-Apacik, Chayim Can, Booth, Carol W., Thomas, Ronald L., Kenwrick, Sue, Keaton, Amelia, Balog, Joan Z., Hadley, Donald, Zhou, Nan, Long, Robert, Velez, Jorge I., Pineda-Alvarez, Daniel E., Odent, Sylvie, Roessler, Erich, Muenke, Maximilian
Publicado em 2010