Prenatal and Neonatal MR Imaging Findings in Oral-Facial-Digital Syndrome Type VI

A. Poretti; U. Brehmer; I. Scheer; V. Bernet; E. Boltshauser

doi:10.3174/ajnr.A1038

Compose eLetter

Title *

Author Information

Contributors
First Name and Middle Initial * First or given name, e.g. 'Peter'. Last Name * Your last, or family, name, e.g. 'MacMoody'. Email Address * Your email address, e.g. higgs-boson@gmail.com Occupation * Your role and/or occupation, e.g. 'Orthopedic Surgeon'. Affiliation * Your organization or institution (if applicable), e.g. 'Royal Free Hospital'.

Statement of Competing Interests

Competing interests? *

Yes

Please describe the competing interests

Vertical Tabs

Jump to comment:

No eLetters have been published for this article.

In this issue

Download PDF

Email Article

Cite this article

0 Responses

Respond to this article

Bookmark this article

Purchase

Cited By...

Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes
Using the avian mutant talpid2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndrome
Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients
Interpeduncular Heterotopia in Joubert Syndrome: A Previously Undescribed MR Finding
Malformations of Cerebral Cortical Development in Oral-Facial-Digital Syndrome Type VI

This article has been cited by the following articles in journals that are participating in Crossref Cited-by Linking.

Primary cilia in neurodevelopmental disorders

Enza Maria Valente, Rasim O. Rosti, Elizabeth Gibbs, Joseph G. Gleeson

Nature Reviews Neurology 2014 10 1
Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients

A. Poretti, T.A.G.M. Huisman, I. Scheer, E. Boltshauser

American Journal of Neuroradiology 2011 32 8
Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

Ange-Line Bruel, Brunella Franco, Yannis Duffourd, Julien Thevenon, Laurence Jego, Estelle Lopez, Jean-François Deleuze, Diane Doummar, Rachel H Giles, Colin A Johnson, Martijn A Huynen, Véronique Chevrier, Lydie Burglen, Manuela Morleo, Isabelle Desguerres, Geneviève Pierquin, Bérénice Doray, Brigitte Gilbert-Dussardier, Bruno Reversade, Elisabeth Steichen-Gersdorf, Clarisse Baumann, Inusha Panigrahi, Anne Fargeot-Espaliat, Anne Dieux, Albert David, Alice Goldenberg, Ernie Bongers, Dominique Gaillard, Jesús Argente, Bernard Aral, Nadège Gigot, Judith St-Onge, Daniel Birnbaum, Shubha R Phadke, Valérie Cormier-Daire, Thibaut Eguether, Gregory J Pazour, Vicente Herranz-Pérez, Jaclyn S Goldstein, Laurent Pasquier, Philippe Loget, Sophie Saunier, André Mégarbané, Olivier Rosnet, Michel R Leroux, John B Wallingford, Oliver E Blacque, Maxence V Nachury, Tania Attie-Bitach, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet

Journal of Medical Genetics 2017 54 6
Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia

Gordana Juric-Sekhar, Jonathan Adkins, Dan Doherty, Robert F. Hevner

Acta Neuropathologica 2012 123 5
C5orf42 is the major gene responsible for OFD syndrome type VI

Estelle Lopez, Christel Thauvin-Robinet, Bruno Reversade, Nadia El Khartoufi, Louise Devisme, Muriel Holder, Hélène Ansart-Franquet, Magali Avila, Didier Lacombe, Pascale Kleinfinger, Irahara Kaori, Jun-Ichi Takanashi, Martine Le Merrer, Jelena Martinovic, Catherine Noël, Mohammad Shboul, Lena Ho, Yeliz Güven, Ferechté Razavi, Lydie Burglen, Nadège Gigot, Véronique Darmency-Stamboul, Julien Thevenon, Bernard Aral, Hülya Kayserili, Frédéric Huet, Stanislas Lyonnet, Cédric Le Caignec, Brunella Franco, Jean-Baptiste Rivière, Laurence Faivre, Tania Attié-Bitach

Human Genetics 2014 133 3
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

Julie C. Van De Weghe, Tamara D.S. Rusterholz, Brooke Latour, Megan E. Grout, Kimberly A. Aldinger, Ranad Shaheen, Jennifer C. Dempsey, Sateesh Maddirevula, Yong-Han H. Cheng, Ian G. Phelps, Matthias Gesemann, Himanshu Goel, Ohad S. Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O. Khan, Michael J. Bamshad, Deborah A. Nickerson, Stephan C.F. Neuhauss, William B. Dobyns, Fowzan S. Alkuraya, Ronald Roepman, Ruxandra Bachmann-Gagescu, Dan Doherty

The American Journal of Human Genetics 2017 101 1
Diffusion tensor imaging and fiber tractography in brain malformations

Andrea Poretti, Avner Meoded, Andrea Rossi, Charles Raybaud, Thierry A. G. M. Huisman

Pediatric Radiology 2013 43 1
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 Journal of Rare Diseases 2012 7 1
Hypothalamic hamartomas. Part 1. Clinical, neuroimaging, and neurophysiological characteristics

Sandeep Mittal, Monika Mittal, José Luis Montes, Jean-Pierre Farmer, Frederick Andermann

Neurosurgical Focus 2013 34 6
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause

Andrea Poretti, Joseph Snow, Angela C Summers, Aylin Tekes, Thierry A G M Huisman, Nafi Aygun, Kathryn A Carson, Dan Doherty, Melissa A Parisi, Camilo Toro, Deniz Yildirimli, Meghana Vemulapalli, Jim C Mullikin, Andrew R Cullinane, Thierry Vilboux, William A Gahl, Meral Gunay-Aygun

Journal of Medical Genetics 2017 54 8

More in this TOC Section

Show more Pediatrics

Main menu

User menu

Search

American Journal of Neuroradiology

Plain text