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56 results for Encephalocele+-+genetics

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Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome
Author / Creator:Zhang, Rui ; Chen, Shaoyun ; Han, Peng ; Chen, Fangfang ; Kuang, Shan ; Meng, Zhuo ; Liu, Junnian ; Sun, Ruliang ; Wang, Zhiwei ; He, Xiaohong ; Li, Yong ; Guan, Yuanning ; Yue, Zhengfang ; Li, Chen ; Kumar Dey, Subrata ; Zhu, Yuanfang ; Banerjee, Santasree
Publisher:England: John Wiley & Sons, Inc
Journal title:Journal of cellular and molecular medicine, 2020-01, Vol.24 (2), p.1906-1916
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Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
Author / Creator:Roosing, Susanne ; Romani, Marta ; Isrie, Mala ; Rosti, Rasim Ozgur ; Micalizzi, Alessia ; Musaev, Damir ; Mazza, Tommaso ; Al-gazali, Lihadh ; Altunoglu, Umut ; Boltshauser, Eugen ; D'Arrigo, Stefano ; De Keersmaecker, Bart ; Kayserili, Hülya ; Brandenberger, Sarah ; Kraoua, Ichraf ; Mark, Paul R ; McKanna, Trudy ; Van Keirsbilck, Joachim ; Moerman, Philippe ; Poretti, Andrea ; Puri, Ratna ; Van Esch, Hilde ; Gleeson, Joseph G ; Valente, Enza Maria
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2016-09, Vol.53 (9), p.608-615
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Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe
Author / Creator:Barisic, Ingeborg ; Boban, Ljubica ; Loane, Maria ; Garne, Ester ; Wellesley, Diana ; Calzolari, Elisa ; Dolk, Helen ; Addor, Marie-Claude ; Bergman, Jorieke EH ; Braz, Paula ; Draper, Elizabeth S ; Haeusler, Martin ; Khoshnood, Babak ; Klungsoyr, Kari ; Pierini, Anna ; Queisser-Luft, Annette ; Rankin, Judith ; Rissmann, Anke ; Verellen-Dumoulin, Christine
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-06, Vol.23 (6), p.746-752
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Investigating the Role of B9D1 in Meckel–Gruber Syndrome: A Case Report and Comprehensive Literature Review
Author / Creator:Campobasso, Gianluca ; Mercuri, Ludovica ; De Razza, Francesca ; Cosentino, Antonella ; Mele, Marta ; Monittola, Antonella ; Congedo, Carmen ; Calò, Maria Chiara ; Scalcione, Caterina ; D’Amuri, Alessandro ; Mauro, Salvatore ; Lattante, Serena
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2025-05, Vol.16 (6), p.643
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Clinical and Molecular Findings in Patients with Knobloch Syndrome 1: Case Series Report
Author / Creator:Vasilyeva, Tatyana ; Kadyshev, Vitaly ; Khalanskaya, Olga ; Kuznetsova, Svetlana ; Ionova, Sofya ; Marakhonov, Andrey ; Zinchenko, Rena
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2024-10, Vol.15 (10), p.1295
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A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
Author / Creator:Garcia-Gonzalo, Francesc R ; Corbit, Kevin C ; Sirerol-Piquer, María Salomé ; Ramaswami, Gokul ; Otto, Edgar A ; Noriega, Thomas R ; Seol, Allen D ; Robinson, Jon F ; Bennett, Christopher L ; Josifova, Dragana J ; García-Verdugo, José Manuel ; Katsanis, Nicholas ; Hildebrandt, Friedhelm ; Reiter, Jeremy F
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2011-08, Vol.43 (8), p.776-784
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Characterizing the morbid genome of ciliopathies
Author / Creator:Shaheen, Ranad ; Szymanska, Katarzyna ; Basu, Basudha ; Patel, Nisha ; Ewida, Nour ; Faqeih, Eissa ; Al Hashem, Amal ; Derar, Nada ; Alsharif, Hadeel ; Aldahmesh, Mohammed A. ; Alazami, Anas M. ; Hashem, Mais ; Ibrahim, Niema ; Abdulwahab, Firdous M. ; Sonbul, Rawda ; Alkuraya, Hisham ; Alnemer, Maha ; Al Tala, Saeed ; Al-Husain, Muneera ; Morsy, Heba ; Seidahmed, Mohammed Zain ; Meriki, Neama ; Al-Owain, Mohammed ; AlShahwan, Saad ; Tabarki, Brahim ; Salih, Mustafa A. ; Faquih, Tariq ; El-Kalioby, Mohamed ; Ueffing, Marius ; Boldt, Karsten ; Logan, Clare V. ; Parry, David A. ; Al Tassan, Nada ; Monies, Dorota ; Megarbane, Andre ; Abouelhoda, Mohamed ; Halees, Anason ; Johnson, Colin A. ; Alkuraya, Fowzan S.
Publisher:England: BioMed Central Ltd
Journal title:Genome Biology, 2016-11, Vol.17 (1), p.242-242, Article 242
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Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis
Author / Creator:Ahmed, Manu ; Fischer, Sydney ; Robert, Karyn L. ; Lange, Karen I. ; Stuck, Michael W. ; Best, Sunayna ; Johnson, Colin A. ; Pazour, Gregory J. ; Blacque, Oliver E. ; Nandadasa, Sumeda
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2025-05, Vol.16 (1), p.4946-20, Article 4946
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The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
Author / Creator:Delous, Marion ; Baala, Lekbir ; Salomon, Rémi ; Laclef, Christine ; Vierkotten, Jeanette ; Tory, Kàlmàn ; Golzio, Christelle ; Lacoste, Tiphanie ; Besse, Laurianne ; Ozilou, Catherine ; Moutkine, Imane ; Hellman, Nathan E ; Anselme, Isabelle ; Silbermann, Flora ; Vesque, Christine ; Gerhardt, Christoph ; Rattenberry, Eleanor ; Wolf, Matthias T F ; Gubler, Marie Claire ; Martinovic, Jéléna ; Encha-Razavi, Féréchté ; Boddaert, Nathalie ; Gonzales, Marie ; Macher, Marie Alice ; Nivet, Hubert ; Champion, Gérard ; Berthélémé, Jean Pierre ; Niaudet, Patrick ; McDonald, Fiona ; Hildebrandt, Friedhelm ; Johnson, Colin A ; Vekemans, Michel ; Antignac, Corinne ; Rüther, Ulrich ; Schneider-Maunoury, Sylvie ; Attié-Bitach, Tania ; Saunier, Sophie
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2007-07, Vol.39 (7), p.875-881
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The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking
Author / Creator:Bachmann-Gagescu, Ruxandra ; Dona, Margo ; Hetterschijt, Lisette ; Tonnaer, Edith ; Peters, Theo ; de Vrieze, Erik ; Mans, Dorus A. ; van Beersum, Sylvia E. C. ; Phelps, Ian G. ; Arts, Heleen H. ; Keunen, Jan E. ; Ueffing, Marius ; Roepman, Ronald ; Boldt, Karsten ; Doherty, Dan ; Moens, Cecilia B. ; Neuhauss, Stephan C. F. ; Kremer, Hannie ; van Wijk, Erwin
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2015-10, Vol.11 (10), p.e1005575-e1005575
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Regulation of INPP5E in Ciliogenesis, Development, and Disease
Author / Creator:Hakeem, Abdulaziz ; Yang, Shuying
Publisher:Australia: Ivyspring International Publisher
Journal title:International journal of biological sciences, 2025-01, Vol.21 (2), p.579-594
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Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
Author / Creator:Leitch, Carmen C ; Zaghloul, Norann A ; Davis, Erica E ; Stoetzel, Corinne ; Diaz-Font, Anna ; Rix, Suzanne ; Alfadhel, Majid ; Lewis, Richard Alan ; Eyaid, Wafaa ; Banin, Eyal ; Dollfus, Helene ; Beales, Philip L ; Badano, Jose L ; Katsanis, Nicholas
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2008-04, Vol.40 (4), p.443-448
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A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management
Author / Creator:Pavanello, Marco ; Fiaschi Pietro ; Accogli Andrea ; Mariasavina, Severino ; Tortora Domenico ; Piatelli Gianluca ; Capra Valeria
Publisher:Milano: Springer Nature B.V
Journal title:Neurological sciences, 2021-12, Vol.42 (12), p.5433-5439
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Active Transport and Diffusion Barriers Restrict Joubert Syndrome-Associated ARL13B/ARL-13 to an Inv-like Ciliary Membrane Subdomain
Author / Creator:Cevik, Sebiha ; Sanders, Anna A. W. M. ; Van Wijk, Erwin ; Boldt, Karsten ; Clarke, Lara ; van Reeuwijk, Jeroen ; Hori, Yuji ; Horn, Nicola ; Hetterschijt, Lisette ; Wdowicz, Anita ; Mullins, Andrea ; Kida, Katarzyna ; Kaplan, Oktay I. ; van Beersum, Sylvia E. C. ; Man Wu, Ka ; Letteboer, Stef J. F. ; Mans, Dorus A. ; Katada, Toshiaki ; Kontani, Kenji ; Ueffing, Marius ; Roepman, Ronald ; Kremer, Hannie ; Blacque, Oliver E.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2013-12, Vol.9 (12), p.e1003977-e1003977
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Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population
Author / Creator:Li, Songshan ; Wang, You ; Sun, Limei ; Yan, Wenjia ; Huang, Li ; Zhang, Zhaotian ; Zhang, Ting ; Ding, Xiaoyan
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-09, Vol.12 (10), p.1512
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The distinct ophthalmic phenotype of Knobloch syndrome in children
Author / Creator:Khan, Arif O ; Aldahmesh, Mohammed A ; Mohamed, Jawahir Y ; Al-Mesfer, Saleh ; Alkuraya, Fowzan S
Publisher:BMA House, Tavistock Square, London, WC1H 9JR: BMJ Publishing Group Ltd
Journal title:British journal of ophthalmology, 2012-06, Vol.96 (6), p.890-895
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A Screen for Modifiers of Cilia Phenotypes Reveals Novel MKS Alleles and Uncovers a Specific Genetic Interaction between osm-3 and nphp-4
Author / Creator:Masyukova, Svetlana V. ; Landis, Dawn E. ; Henke, Scott J. ; Williams, Corey L. ; Pieczynski, Jay N. ; Roszczynialski, Kelly N. ; Covington, Jannese E. ; Malarkey, Erik B. ; Yoder, Bradley K.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2016-02, Vol.12 (2), p.e1005841-e1005841
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Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome
Author / Creator:Romani, Marta ; Micalizzi, Alessia ; Kraoua, Ichraf ; Dotti, Maria Teresa ; Cavallin, Mara ; Sztriha, László ; Ruta, Rosario ; Mancini, Francesca ; Mazza, Tommaso ; Castellana, Stefano ; Hanene, Benrhouma ; Carluccio, Maria Alessandra ; Darra, Francesca ; Máté, Adrienn ; Zimmermann, Alíz ; Gouider-Khouja, Neziha ; Valente, Enza Maria
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2014-05, Vol.9 (1), p.72-72, Article 72
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Identification of ADAMTS18 as a gene mutated in Knobloch syndrome
Author / Creator:Aldahmesh, Mohammed A ; Khan, Arif O ; Mohamed, Jawahir Y ; Alkuraya, Hisham ; Ahmed, Hala ; Bobis, Steve ; Al-Mesfer, Saleh ; Alkuraya, Fowzan S
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2011-09, Vol.48 (9), p.597-601
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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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Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome

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Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

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Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

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Investigating the Role of B9D1 in Meckel–Gruber Syndrome: A Case Report and Comprehensive Literature Review

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Clinical and Molecular Findings in Patients with Knobloch Syndrome 1: Case Series Report

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A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

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Characterizing the morbid genome of ciliopathies

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Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis

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The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

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The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking

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Regulation of INPP5E in Ciliogenesis, Development, and Disease

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Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

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A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management

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Active Transport and Diffusion Barriers Restrict Joubert Syndrome-Associated ARL13B/ARL-13 to an Inv-like Ciliary Membrane Subdomain

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Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population

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The distinct ophthalmic phenotype of Knobloch syndrome in children

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A Screen for Modifiers of Cilia Phenotypes Reveals Novel MKS Alleles and Uncovers a Specific Genetic Interaction between osm-3 and nphp-4

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Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

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Identification of ADAMTS18 as a gene mutated in Knobloch syndrome

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

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