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Items: 19

1.
Meckel Gruber syndrome, A case report
Kiper Aslan, Elif Külahçı Aslan, Adnan Orhan, Mehmet Aral Atalay
Organogenesis. 2015 Apr; 11(2): 87–92. Published online 2015 Jun 2. doi: 10.1080/15476278.2015.1055431
PMCID:
PMC4594365
AbstractArticlePDF–464K
2.
Associated malformations in the family of a patient with Meckel syndrome: heterozygous expression?
R Gulati, S R Phadke, S S Agarwal
J Med Genet. 1997 Nov; 34(11): 937–938. doi: 10.1136/jmg.34.11.937
PMCID:
PMC1051125
SummaryPage BrowsePDF–261K
3.
Meckel syndrome.
R Salonen, P Paavola
J Med Genet. 1998 Jun; 35(6): 497–501. doi: 10.1136/jmg.35.6.497
PMCID:
PMC1051345
SummaryPage BrowsePDF–1.8M
4.
A gene for Meckel syndrome maps to chromosome 11q13.
J Roume, E Genin, V Cormier-Daire, H W Ma, B Mehaye, T Attie, F Razavi-Encha, C Fallet-Bianco, A Buenerd, F Clerget-Darpoux, A Munnich, M Le Merrer
Am J Hum Genet. 1998 Oct; 63(4): 1095–1101. doi: 10.1086/302062
PMCID:
PMC1377494
Abstract
5.
A Gene(s) for All-trans-Retinoic Acid-Induced Forelimb Defects Mapped and Confirmed to Murine Chromosome 11
Grace S. Lee, Rita M. Cantor, Arin Abnoosian, Euisun Park, Mitsuko L. Yamamoto, David N. Hovland, Jr., Michael D. Collins
Genetics. 2005 May; 170(1): 345–353. doi: 10.1534/genetics.104.038620
PMCID:
PMC1449723
AbstractArticlePDF–258K
6.
Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment
Dapeng Zhang, L. Aravind
Cell Cycle. 2012 Oct 15; 11(20): 3861–3875. doi: 10.4161/cc.22068
PMCID:
PMC3495828
AbstractArticlePDF–3.9M
7.
Mutations in TMEM231 cause Meckel–Gruber syndrome
Ranad Shaheen, Shinu Ansari, Elham AL Mardawi, Muneera J Alshammari, Fowzan S Alkuraya
J Med Genet. 2013 Mar; 50(3): 160–162. Published online 2013 Jan 24. doi: 10.1136/jmedgenet-2012-101431
PMCID:
PMC3585488
AbstractArticlePDF–303K
8.
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders
Lorena Travaglini, Francesco Brancati, Jennifer Silhavy, Miriam Iannicelli, Elizabeth Nickerson, Nadia Elkhartoufi, Eric Scott, Emily Spencer, Stacey Gabriel, Sophie Thomas, Bruria Ben-Zeev, Enrico Bertini, Eugen Boltshauser, Malika Chaouch, Maria Roberta Cilio, Mirjam M de Jong, Hulya Kayserili, Gonul Ogur, Andrea Poretti, Sabrina Signorini, Graziella Uziel, Maha S Zaki, the International JSRD Study Group, Colin Johnson, Tania Attié-Bitach, Joseph G Gleeson, Enza Maria Valente
Eur J Hum Genet. 2013 Oct; 21(10): 1074–1078. Published online 2013 Feb 6. doi: 10.1038/ejhg.2012.305
PMCID:
PMC3778343
AbstractArticlePDF–471K
9.
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone
Elle C. Roberson, William E. Dowdle, Aysegul Ozanturk, Francesc R. Garcia-Gonzalo, Chunmei Li, Jan Halbritter, Nadia Elkhartoufi, Jonathan D. Porath, Heidi Cope, Allison Ashley-Koch, Simon Gregory, Sophie Thomas, John A. Sayer, Sophie Saunier, Edgar A. Otto, Nicholas Katsanis, Erica E. Davis, Tania Attié-Bitach, Friedhelm Hildebrandt, Michel R. Leroux, Jeremy F. Reiter
J Cell Biol. 2015 Apr 13; 209(1): 129–142. doi: 10.1083/jcb.201411087
PMCID:
PMC4395494
AbstractArticlePDF–2.8M
10.
A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China
Manli Zhang, Jing Cheng, Aijun Liu, Longxia Wang, Lihua Xiong, Meixia Chen, Yi Sun, Jianzhong Li, Yu Lu, Huijun Yuan, Yali Li, Yanping Lu
Int J Clin Exp Pathol. 2015; 8(5): 5379–5386. Published online 2015 May 1.
PMCID:
PMC4503111
AbstractArticlePDF–1.2M
11.
Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants
Jun Wang, Holly R. Thomas, Robert G. Thompson, Stephanie C. Waldrep, Joseph Fogerty, Ping Song, Zhang Li, Yongjie Ma, Peu Santra, Jonathan D. Hoover, Nan Cher Yeo, Iain A. Drummond, Bradley K. Yoder, Jeffrey D. Amack, Brian Perkins, John M. Parant
Dis Model Mech. 2022 Dec 1; 15(12): dmm049568. Published online 2022 Dec 19. doi: 10.1242/dmm.049568
PMCID:
PMC9844136
AbstractArticle
12.
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking
Ruxandra Bachmann-Gagescu, Margo Dona, Lisette Hetterschijt, Edith Tonnaer, Theo Peters, Erik de Vrieze, Dorus A. Mans, Sylvia E. C. van Beersum, Ian G. Phelps, Heleen H. Arts, Jan E. Keunen, Marius Ueffing, Ronald Roepman, Karsten Boldt, Dan Doherty, Cecilia B. Moens, Stephan C. F. Neuhauss, Hannie Kremer, Erwin van Wijk
PLoS Genet. 2015 Oct; 11(10): e1005575. Published online 2015 Oct 20. doi: 10.1371/journal.pgen.1005575
PMCID:
PMC4617701
AbstractArticlePDF–13M
13.
Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling
Laura E. Yee, Francesc R. Garcia-Gonzalo, Rachel V. Bowie, Chunmei Li, Julie K. Kennedy, Kaveh Ashrafi, Oliver E. Blacque, Michel R. Leroux, Jeremy F. Reiter
PLoS Genet. 2015 Nov; 11(11): e1005627. Published online 2015 Nov 5. doi: 10.1371/journal.pgen.1005627
PMCID:
PMC4635004
AbstractArticlePDF–7.7M
14.
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone
Chunmei Li, Victor L. Jensen, Kwangjin Park, Julie Kennedy, Francesc R. Garcia-Gonzalo, Marta Romani, Roberta De Mori, Ange-Line Bruel, Dominique Gaillard, Bérénice Doray, Estelle Lopez, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet, Jeremy F. Reiter, Oliver E. Blacque, Enza Maria Valente, Michel R. Leroux
PLoS Biol. 2016 Mar; 14(3): e1002416. Published online 2016 Mar 16. doi: 10.1371/journal.pbio.1002416
PMCID:
PMC4794247
AbstractArticlePDF–8.5M
15.
Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe
Ingeborg Barisic, Ljubica Boban, Maria Loane, Ester Garne, Diana Wellesley, Elisa Calzolari, Helen Dolk, Marie-Claude Addor, Jorieke EH Bergman, Paula Braz, Elizabeth S Draper, Martin Haeusler, Babak Khoshnood, Kari Klungsoyr, Anna Pierini, Annette Queisser-Luft, Judith Rankin, Anke Rissmann, Christine Verellen-Dumoulin
Eur J Hum Genet. 2015 Jun; 23(6): 746–752. Published online 2014 Sep 3. doi: 10.1038/ejhg.2014.174
PMCID:
PMC4795048
AbstractArticlePDF–306K
16.
(Pro)renin receptor (ATP6AP2) depletion arrests As4.1 cells in the G0/G1 phase thereby increasing formation of primary cilia
Heike Wanka, Philipp Lutze, Doreen Staar, Barbara Peters, Anica Morch, Lukas Vogel, Ravi Kumar Chilukoti, Georg Homuth, Jaroslaw Sczodrok, Inga Bäumgen, Jörg Peters
J Cell Mol Med. 2017 Jul; 21(7): 1394–1410. Published online 2017 Feb 19. doi: 10.1111/jcmm.13069
PMCID:
PMC5487920
AbstractArticlePDF–1.0M
17.
15 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. Lee, 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
J Med Genet. Author manuscript; available in PMC 2017 Aug 15.
Published in final edited form as: J Med Genet. 2017 Jun; 54(6): 371–380. Published online 2017 Mar 13. doi: 10.1136/jmedgenet-2016-104436
PMCID:
PMC5557276
AbstractArticlePDF–786K
18.
Two novel TCTN2 mutations cause Meckel–Gruber syndrome
Manli Zhang, Zhijie Chang, Yaping Tian, Longxia Wang, Yanping Lu
J Hum Genet. 2020; 65(11): 1039–1043. Published online 2020 Jul 12. doi: 10.1038/s10038-020-0804-0
PMCID:
PMC7527272
AbstractArticlePDF–1.6M
19.
Fetal ciliopathies: a retrospective observational single-center study
Corinna Simonini, Anne Floeck, Brigitte Strizek, Andreas Mueller, Ulrich Gembruch, Annegret Geipel
Arch Gynecol Obstet. 2022; 306(1): 71–83. Published online 2021 Oct 1. doi: 10.1007/s00404-021-06265-7
PMCID:
PMC9300526
AbstractArticlePDF–1.4M

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