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72 results for Boltshauser,+Eugen

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ArticlesPeer ReviewedFull Text
Pontocerebellar Hypoplasia: a Pattern Recognition Approach
Author / Creator:Rüsch, Christina T. ; Bölsterli, Bigna K. ; Kottke, Raimund ; Steinfeld, Robert ; Boltshauser, Eugen
Publisher:New York: Springer US
Journal title:Cerebellum (London, England), 2020-08, Vol.19 (4), p.569-582
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Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
Author / Creator:Bielas, Stephanie L ; Silhavy, Jennifer L ; Brancati, Francesco ; Kisseleva, Marina V ; Al-Gazali, Lihadh ; Sztriha, Laszlo ; Bayoumi, Riad A ; Zaki, Maha S ; Abdel-Aleem, Alice ; Rosti, Rasim Ozgur ; Kayserili, Hulya ; Swistun, Dominika ; Scott, Lesley C ; Bertini, Enrico ; Boltshauser, Eugen ; Fazzi, Elisa ; Travaglini, Lorena ; Field, Seth J ; Gayral, Stephanie ; Jacoby, Monique ; Schurmans, Stephane ; Dallapiccola, Bruno ; Majerus, Philip W ; Valente, Enza Maria ; Gleeson, Joseph G
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2009-09, Vol.41 (9), p.1032-1036
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Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report
Author / Creator:Bader, Ingrid ; McTiernan, Nina ; Darbakk, Christine ; Boltshauser, Eugen ; Ree, Rasmus ; Ebner, Sabine ; Mayr, Johannes A. ; Arnesen, Thomas
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2020-07, Vol.21 (1), p.153-9, Article 153
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Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
Author / Creator:Valente, Enza Maria ; Logan, Clare V ; Mougou-Zerelli, Soumaya ; Lee, Jeong Ho ; Silhavy, Jennifer L ; Brancati, Francesco ; Iannicelli, Miriam ; Travaglini, Lorena ; Romani, Sveva ; Illi, Barbara ; Adams, Matthew ; Szymanska, Katarzyna ; Mazzotta, Annalisa ; Lee, Ji Eun ; Tolentino, Jerlyn C ; Swistun, Dominika ; Salpietro, Carmelo D ; Fede, Carmelo ; Gabriel, Stacey ; Russ, Carsten ; Cibulskis, Kristian ; Sougnez, Carrie ; Hildebrandt, Friedhelm ; Otto, Edgar A ; Held, Susanne ; Diplas, Bill H ; Davis, Erica E ; Mikula, Mario ; Strom, Charles M ; Ben-Zeev, Bruria ; Lev, Dorit ; Sagie, Tally Lerman ; Michelson, Marina ; Yaron, Yuval ; Krause, Amanda ; Boltshauser, Eugen ; Elkhartoufi, Nadia ; Roume, Joelle ; Shalev, Stavit ; Munnich, Arnold ; Saunier, Sophie ; Inglehearn, Chris ; Saad, Ali ; Alkindy, Adila ; Thomas, Sophie ; Vekemans, Michel ; Dallapiccola, Bruno ; Katsanis, Nicholas ; Johnson, Colin A ; Attié-Bitach, Tania ; Gleeson, Joseph G
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2010-07, Vol.42 (7), p.619-625
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ArticlesPeer ReviewedFull Text
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome
Author / Creator:Roosing, Susanne ; Hofree, Matan ; Kim, Sehyun ; Scott, Eric ; Copeland, Brett ; Romani, Marta ; Silhavy, Jennifer L ; Rosti, Rasim O ; Schroth, Jana ; Mazza, Tommaso ; Miccinilli, Elide ; Zaki, Maha S ; Swoboda, Kathryn J ; Milisa-Drautz, Joanne ; Dobyns, William B ; Mikati, Mohamed A ; İncecik, Faruk ; Azam, Matloob ; Borgatti, Renato ; Romaniello, Romina ; Boustany, Rose-Mary ; Clericuzio, Carol L ; D'Arrigo, Stefano ; Strømme, Petter ; Boltshauser, Eugen ; Stanzial, Franco ; Mirabelli-Badenier, Marisol ; Moroni, Isabella ; Bertini, Enrico ; Emma, Francesco ; Steinlin, Maja ; Hildebrandt, Friedhelm ; Johnson, Colin A ; Freilinger, Michael ; Vaux, Keith K ; Gabriel, Stacey B ; Aza-Blanc, Pedro ; Heynen-Genel, Susanne ; Ideker, Trey ; Dynlacht, Brian D ; Lee, Ji Eun ; Valente, Enza Maria ; Kim, Joon ; Gleeson, Joseph G
Publisher:England: eLife Sciences Publications Ltd
Journal title:eLife, 2015-05, Vol.4, p.e06602-e06602
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The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis
Author / Creator:Arrigoni, Filippo ; Romaniello, Romina ; Peruzzo, Denis ; Poretti, Andrea ; Bassi, Maria Teresa ; Pierpaoli, Carlo ; Valente, Enza Maria ; Nuovo, Sara ; Boltshauser, Eugen ; Thierry André Gerard Marie Huisman ; Triulzi, Fabio ; Borgatti, Renato
Publisher:Heidelberg: Springer Nature B.V
Journal title:European radiology, 2019-02, Vol.29 (2), p.770
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ArticlesPeer ReviewedFull Text
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia
Author / Creator:Schröder, Simone ; Li, Yun ; Yigit, Gökhan ; Altmüller, Janine ; Bader, Ingrid ; Bevot, Andrea ; Biskup, Saskia ; Dreha-Kulaczewski, Steffi ; Christoph Korenke, G. ; Kottke, Raimund ; Mayr, Johannes A. ; Preisel, Martin ; Toelle, Sandra P. ; Wente-Schulz, Sarah ; Wortmann, Saskia B. ; Hahn, Heidi ; Boltshauser, Eugen ; Uhmann, Anja ; Wollnik, Bernd ; Brockmann, Knut
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2021-02, Vol.23 (2), p.341-351
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ArticlesPeer ReviewedFull Text
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation
Author / Creator:Rymen, Daisy ; Lindhout, Martijn ; Spanou, Maria ; Ashrafzadeh, Farah ; Benkel, Ira ; Betzler, Cornelia ; Coubes, Christine ; Hartmann, Hans ; Kaplan, Julie D. ; Ballhausen, Diana ; Koch, Johannes ; Lotte, Jan ; Mohammadi, Mohammad Hasan ; Rohrbach, Marianne ; Dinopoulos, Argirios ; Wermuth, Marieke ; Willis, Daniel ; Brugger, Karin ; Wevers, Ron A. ; Boltshauser, Eugen ; Bierau, Jörgen ; Mayr, Johannes A. ; Wortmann, Saskia B.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2020-10, Vol.22 (10), p.1589-1597
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ArticlesPeer ReviewedFull Text
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued
Author / Creator:Schröder, Simone ; Yigit, Gökhan ; Li, Yun ; Altmüller, Janine ; Büttel, Hans-Martin ; Fiedler, Barbara ; Kretzschmar, Christoph ; Nürnberg, Peter ; Seeger, Jürgen ; Serpieri, Valentina ; Valente, Enza Maria ; Wollnik, Bernd ; Boltshauser, Eugen ; Brockmann, Knut
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2023-05, Vol.18 (1), p.101-101, Article 101
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ArticlesPeer ReviewedFull Text
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
Author / Creator:Valente, Enza Maria ; Silhavy, Jennifer L ; Brancati, Francesco ; Barrano, Giuseppe ; Krishnaswami, Suguna Rani ; Castori, Marco ; Lancaster, Madeline A ; Boltshauser, Eugen ; Boccone, Loredana ; Al-Gazali, Lihadh ; Fazzi, Elisa ; Signorini, Sabrina ; Louie, Carrie M ; Bellacchio, Emanuele ; Related Disorders Study Group, International Joubert Syndrome ; Bertini, Enrico ; Dallapiccola, Bruno ; Gleeson, Joseph G
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2006-06, Vol.38 (6), p.623-625
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Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation
Author / Creator:Ravindran, Ethiraj ; Hu, Hao ; Yuzwa, Scott A. ; Hernandez-Miranda, Luis R. ; Kraemer, Nadine ; Ninnemann, Olaf ; Musante, Luciana ; Boltshauser, Eugen ; Schindler, Detlev ; Hübner, Angela ; Reinecker, Hans-Christian ; Ropers, Hans-Hilger ; Birchmeier, Carmen ; Miller, Freda D. ; Wienker, Thomas F. ; Hübner, Christoph ; Kaindl, Angela M.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2017-04, Vol.13 (4), p.e1006746-e1006746
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Clinical utility gene card for: Joubert Syndrome - update 2013
Author / Creator:Valente, Enza Maria ; Brancati, Francesco ; Boltshauser, Eugen ; Dallapiccola, Bruno
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2013-10, Vol.21 (10), p.1187-1187
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Incidence and Characteristics of Cerebellar Atrophy/Volume Loss in Children with Confirmed Diagnosis of Tuberous Sclerosis Complex
Author / Creator:Mertiri, Livja ; Boltshauser, Eugen ; Kralik, Stephen F. ; Desai, Nilesh K. ; Lequin, Maarten H. ; Huisman, Thierry A. G. M.
Publisher:Switzerland: MDPI AG
Journal title:Children (Basel), 2024-06, Vol.11 (6), p.627
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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders
Author / Creator:Travaglini, Lorena ; Brancati, Francesco ; Silhavy, Jennifer ; Iannicelli, Miriam ; Nickerson, Elizabeth ; Elkhartoufi, Nadia ; Scott, Eric ; Spencer, Emily ; Gabriel, Stacey ; Thomas, Sophie ; Ben-Zeev, Bruria ; Bertini, Enrico ; Boltshauser, Eugen ; Chaouch, Malika ; Roberta Cilio, Maria ; de Jong, Mirjam M ; Kayserili, Hulya ; Ogur, Gonul ; Poretti, Andrea ; Signorini, Sabrina ; Uziel, Graziella ; Zaki, Maha S ; Johnson, Colin ; Attié-Bitach, Tania ; Gleeson, Joseph G ; Valente, Enza Maria
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2013-10, Vol.21 (10), p.1074-1078
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TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)
Author / Creator:Stephen, Louise A ; Tawamie, Hasan ; Davis, Gemma M ; Tebbe, Lars ; Nürnberg, Peter ; Nürnberg, Gudrun ; Thiele, Holger ; Thoenes, Michaela ; Boltshauser, Eugen ; Uebe, Steffen ; Rompel, Oliver ; Reis, André ; Ekici, Arif B ; McTeir, Lynn ; Fraser, Amy M ; Hall, Emma A ; Mill, Pleasantine ; Daudet, Nicolas ; Cross, Courtney ; Wolfrum, Uwe ; Jamra, Rami Abou ; Davey, Megan G ; Bolz, Hanno J
Publisher:England: eLife Sciences Publications, Ltd
Journal title:eLife, 2015-09, Vol.4
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Blake's Pouch Cysts and Differential Diagnoses in Prenatal and Postnatal MRI
Author / Creator:Kau, Thomas ; Marterer, Robert ; Kottke, Raimund ; Birnbacher, Robert ; Gellen, Janos ; Nagy, Eszter ; Boltshauser, Eugen
Publisher:Heidelberg: Springer
Journal title:Clinical neuroradiology (Munich), 2020-09, Vol.30 (3), p.435-445
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Macrocerebellum: Significance and Pathogenic Considerations
Author / Creator:Poretti, Andrea ; Mall, Volker ; Smitka, Martin ; Grunt, Sebastian ; Risen, Sarah ; Toelle, Sandra P. ; Benson, Jane E. ; Yoshida, Shoko ; Jung, Nikolai H. ; Tinschert, Sigrid ; Neuhann, Teresa M. ; Rauch, Anita ; Steinlin, Maja ; Meoded, Avner ; Huisman, Thierry A. G. M. ; Boltshauser, Eugen
Publisher:New York: Springer-Verlag
Journal title:Cerebellum (London, England), 2012-12, Vol.11 (4), p.1026-1036
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Clinical Features and Revised Diagnostic Criteria in Joubert Syndrome
Author / Creator:Maria, Bernard L. ; Boltshauser, Eugen ; Palmer, Scott C. ; Tran, Thang X.
Publisher:Thousand Oaks, CA: SAGE Publications
Journal title:Journal of child neurology, 1999-09, Vol.14 (9), p.583-590
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In Memoriam Andrea Poretti
Author / Creator:Boltshauser, Eugen
Publisher:New York: Springer US
Journal title:Cerebellum (London, England), 2017-12, Vol.16 (5-6), p.986-987
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Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene
Author / Creator:Balmer, Christian ; Ballhausen, Diana ; Bosshard, Nils U. ; Steinmann, Beat ; Boltshauser, Eugen ; Bauersfeld, Urs ; Superti-Furga, Andrea
Publisher:Heidelberg: Springer
Journal title:European journal of pediatrics, 2005-08, Vol.164 (8), p.509-514
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Showing 1 to 20 of 72 results

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Pontocerebellar Hypoplasia: a Pattern Recognition Approach

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Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

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Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report

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Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

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Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

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The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis

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Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia

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Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation

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The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued

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Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

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Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation

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Clinical utility gene card for: Joubert Syndrome - update 2013

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Incidence and Characteristics of Cerebellar Atrophy/Volume Loss in Children with Confirmed Diagnosis of Tuberous Sclerosis Complex

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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

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TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

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Blake's Pouch Cysts and Differential Diagnoses in Prenatal and Postnatal MRI

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Macrocerebellum: Significance and Pathogenic Considerations

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Clinical Features and Revised Diagnostic Criteria in Joubert Syndrome

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In Memoriam Andrea Poretti

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Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene

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