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Items: 1 to 20 of 48

1.
Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome?
J F Mattei, S Aymé
J Med Genet. 1983 Dec; 20(6): 433–435. doi: 10.1136/jmg.20.6.433
PMCID:
PMC1049175
SummaryPage BrowsePDF–690K
2.
Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II)
Ali Al Kaissi, Renata Pospischill, Franz Grill, Rudolf Ganger
J Clin Med Res. 2015 Dec; 7(12): 1002–1006. Published online 2015 Oct 23. doi: 10.14740/jocmr2341w
PMCID:
PMC4625807
AbstractArticlePDF–1.7M
3.
Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome)
Glen R Monroe, Isabelle FPM Kappen, Marijn F Stokman, Paulien A Terhal, Marie-José H van den Boogaard, Sanne MC Savelberg, Lars T van der Veken, Robert JJ van Es, Susanne M Lens, Rutger C Hengeveld, Marijn A Creton, Nard G Janssen, Aebele B Mink van der Molen, Michelle B Ebbeling, Rachel H Giles, Nine V Knoers, Gijs van Haaften
Eur J Hum Genet. 2016 Dec; 24(12): 1752–1760. Published online 2016 Aug 17. doi: 10.1038/ejhg.2016.103
PMCID:
PMC5117912
AbstractArticlePDF–1.7M
4.
Orofaciodigital syndrome type II (Mohr syndrome): a case report
Bita Malekianzadeh, Fardis Vosoughi, Ramin Zargarbashi
BMC Musculoskelet Disord. 2020; 21: 793. Published online 2020 Nov 30. doi: 10.1186/s12891-020-03825-x
PMCID:
PMC7702708
AbstractArticlePDF–5.5M
5.
Schizosaccharomyces pombe Ofd2 Is a Nuclear 2-Oxoglutarate and Iron Dependent Dioxygenase Interacting with Histones
Hanne Korvald, Anne Margrethe Mølstad Moe, F. Henning Cederkvist, Bernd Thiede, Jon K. Laerdahl, Magnar Bjørås, Ingrun Alseth
PLoS One. 2011; 6(9): e25188. Published online 2011 Sep 16. doi: 10.1371/journal.pone.0025188
PMCID:
PMC3175000
AbstractArticlePDF–1.6M
6.
The S. pombe Histone H2A Dioxygenase Ofd2 Regulates Gene Expression during Hypoxia
David Lando, Jenny Balmer, Ernest D. Laue, Tony Kouzarides
PLoS One. 2012; 7(1): e29765. Published online 2012 Jan 3. doi: 10.1371/journal.pone.0029765
PMCID:
PMC3250473
AbstractArticlePDF–624K
7.
NEK1 kinase domain structure and its dynamic protein interactome after exposure to Cisplatin
Talita D. Melo-Hanchuk, Priscila Ferreira Slepicka, Gabriela Vaz Meirelles, Fernanda Luisa Basei, Diogo Ventura Lovato, Daniela Campos Granato, Bianca Alves Pauletti, Romenia Ramos Domingues, Adriana Franco Paes Leme, Alessandra Luiza Pelegrini, Guido Lenz, Stefan Knapp, Jonathan M. Elkins, Jörg Kobarg
Sci Rep. 2017; 7: 5445. Published online 2017 Jul 14. doi: 10.1038/s41598-017-05325-w
PMCID:
PMC5511132
AbstractArticlePDF–3.3M
8.
D2-40 A Helpful Marker in Assessment of Lymphatic Vessel Invasion in Carcinoma of Breast
Zeinab Vosough, Shima Golbini, Majid Sharbatdaran, Akramossadat Hosseini
Iran J Pathol. 2021 Spring; 16(2): 96–102. Published online 2020 Dec 20. doi: 10.30699/IJP.2020.114511.2245
PMCID:
PMC8085290
AbstractArticlePDF–1.0M
9.
Digital and Dental Malformation and Short Stature in a Patient with Neurological Problems: A Variant of the Oculodentodigital Dysplasia Syndrome or a New Syndrome?
Marjan SHAKIBA, Habibe NEZHAD BIEGLARI, Mohammad Reza ALAEE
Iran J Child Neurol. 2012 Autumn; 6(4): 51–54.
PMCID:
PMC3943020
AbstractArticlePDF–1.0M
10.
Identification of novel antigens with induced immune response in monoclonal gammopathy of undetermined significance
Simona Blotta, Pierfrancesco Tassone, Rao H. Prabhala, Piersandro Tagliaferri, David Cervi, Samir Amin, Jana Jakubikova, Yu-Tzu Tai, Klaus Podar, Constantine S. Mitsiades, Alessandro Zullo, Brunella Franco, Kenneth C. Anderson, Nikhil C. Munshi
Blood. 2009 Oct 8; 114(15): 3276–3284. Prepublished online 2009 Jul 8. doi: 10.1182/blood-2009-04-219436
PMCID:
PMC2759650
AbstractArticle
11.
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Marta Romani, Francesca Mancini, Alessia Micalizzi, Andrea Poretti, Elide Miccinilli, Patrizia Accorsi, Emanuela Avola, Enrico Bertini, Renato Borgatti, Romina Romaniello, Serdar Ceylaner, Giangennaro Coppola, Stefano D’Arrigo, Lucio Giordano, Andreas R. Janecke, Mario Lituania, Kathrin Ludwig, Loreto Martorell, Tommaso Mazza, Sylvie Odent, Lorenzo Pinelli, Pilar Poo, Margherita Santucci, Sabrina Signorini, Alessandro Simonati, Ronen Spiegel, Franco Stanzial, Maja Steinlin, Brahim Tabarki, Nicole I. Wolf, Federica Zibordi, Eugen Boltshauser, Enza Maria Valente
Hum Genet. 2015; 134(1): 123–126. Published online 2014 Nov 19. doi: 10.1007/s00439-014-1508-3
PMCID:
PMC4282684
AbstractArticlePDF–354K
12.
Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability
Marion Failler, Heon Yung Gee, Pauline Krug, Kwangsic Joo, Jan Halbritter, Lilya Belkacem, Emilie Filhol, Jonathan D. Porath, Daniela A. Braun, Markus Schueler, Amandine Frigo, Olivier Alibeu, Cécile Masson, Karine Brochard, Bruno Hurault de Ligny, Robert Novo, Christine Pietrement, Hulya Kayserili, Rémi Salomon, Marie-Claire Gubler, Edgar A. Otto, Corinne Antignac, Joon Kim, Alexandre Benmerah, Friedhelm Hildebrandt, Sophie Saunier
Am J Hum Genet. 2014 Jun 5; 94(6): 905–914. doi: 10.1016/j.ajhg.2014.05.002
PMCID:
PMC4121475
AbstractArticlePDF–2.8M
13.
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation
Christel Thauvin-Robinet, Jaclyn S. Lee, Estelle Lopez, Vicente Herranz-Pérez, Toshinobu Shida, Brunella Franco, Laurence Jego, Fan Ye, Laurent Pasquier, Philippe Loget, Nadège Gigot, Bernard Aral, Carla A.M. Lopes, Judith St-Onge, Ange-Line Bruel, Julien Thevenon, Susana González-Granero, Caroline Alby, Arnold Munnich, Michel Vekemans, Frédéric Huet, Andrew M. Fry, Sophie Saunier, Jean-Baptiste Rivière, Tania Attié-Bitach, Jose Manuel Garcia-Verdugo, Laurence Faivre, André Mégarbané, Maxence V. Nachury
Nat Genet. Author manuscript; available in PMC 2015 Feb 1.
Published in final edited form as: Nat Genet. 2014 Aug; 46(8): 905–911. Published online 2014 Jul 6. doi: 10.1038/ng.3031
PMCID:
PMC4120243
ArticlePDF–2.2M
14.
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study
Ennio Del Giudice, Marina Macca, Floriana Imperati, Alessandra D’Amico, Philippe Parent, Laurent Pasquier, Valerie Layet, Stanislas Lyonnet, Veronique Stamboul-Darmency, Christel Thauvin-Robinet, Brunella Franco
Orphanet J Rare Dis. 2014; 9: 74. Published online 2014 May 10. doi: 10.1186/1750-1172-9-74
PMCID:
PMC4113190
AbstractArticlePDF–2.8M
15.
TCTN3 Mutations Cause Mohr-Majewski Syndrome
Sophie Thomas, Marine Legendre, Sophie Saunier, Bettina Bessières, Caroline Alby, Maryse Bonnière, Annick Toutain, Laurence Loeuillet, Katarzyna Szymanska, Frédérique Jossic, Dominique Gaillard, Mohamed Tahar Yacoubi, Soumaya Mougou-Zerelli, Albert David, Marie-Anne Barthez, Yves Ville, Christine Bole-Feysot, Patrick Nitschke, Stanislas Lyonnet, Arnold Munnich, Colin A. Johnson, Férechté Encha-Razavi, Valérie Cormier-Daire, Christel Thauvin-Robinet, Michel Vekemans, Tania Attié-Bitach
Am J Hum Genet. 2012 Aug 10; 91(2): 372–378. doi: 10.1016/j.ajhg.2012.06.017
PMCID:
PMC3415538
AbstractArticlePDF–714K
16.
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)
Tom R. Webb, David A. Parfitt, Jessica C. Gardner, Ariadna Martinez, Dalila Bevilacqua, Alice E. Davidson, Ilaria Zito, Dawn L. Thiselton, Jacob H.C. Ressa, Marina Apergi, Nele Schwarz, Naheed Kanuga, Michel Michaelides, Michael E. Cheetham, Michael B. Gorin, Alison J. Hardcastle
Hum Mol Genet. 2012 Aug 15; 21(16): 3647–3654. Published online 2012 May 22. doi: 10.1093/hmg/dds194
PMCID:
PMC3406759
AbstractArticlePDF–218K
17.
Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI
Andrea Poretti, Giuseppina Vitiello, Raoul CM Hennekam, Filippo Arrigoni, Enrico Bertini, Renato Borgatti, Francesco Brancati, Stefano D'Arrigo, Francesca Faravelli, Lucio Giordano, Thierry AGM Huisman, Miriam Iannicelli, Gerhard Kluger, Marten Kyllerman, Magnus Landgren, Melissa M Lees, Lorenzo Pinelli, Romina Romaniello, Ianina Scheer, Christoph E Schwarz, Ronen Spiegel, Daniel Tibussek, Enza Maria Valente, Eugen Boltshauser
Orphanet J Rare Dis. 2012; 7: 4. Published online 2012 Jan 11. doi: 10.1186/1750-1172-7-4
PMCID:
PMC3313869
AbstractArticlePDF–4.4M
18.
Orofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosis.
K H Orstavik, S E Tangsrud, T Nordshus, A M Finnanger, C Hellum, E Gjessing
J Med Genet. 1992 Nov; 29(11): 827–830. doi: 10.1136/jmg.29.11.827
PMCID:
PMC1016182
SummaryPage BrowsePDF–1.2M
19.
OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin
Karlien L.M. Coene, Ronald Roepman, Dan Doherty, Bushra Afroze, Hester Y. Kroes, Stef J.F. Letteboer, Lock H. Ngu, Bartlomiej Budny, Erwin van Wijk, Nicholas T. Gorden, Malika Azhimi, Christel Thauvin-Robinet, Joris A. Veltman, Mireille Boink, Tjitske Kleefstra, Frans P.M. Cremers, Hans van Bokhoven, Arjan P.M. de Brouwer
Am J Hum Genet. 2009 Oct 9; 85(4): 465–481. doi: 10.1016/j.ajhg.2009.09.002
PMCID:
PMC2756557
AbstractArticlePDF–2.7M
20.
Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene
Maria I. Ferrante, Leila Romio, Silvia Castro, John E. Collins, David A. Goulding, Derek L. Stemple, Adrian S. Woolf, Stephen W. Wilson
Hum Mol Genet. 2009 Jan 15; 18(2): 289–303. Published online 2008 Oct 29. doi: 10.1093/hmg/ddn356
PMCID:
PMC2638777
AbstractArticlePDF–1.2M

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