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Items: 1 to 20 of 32

1.
Use of Morphometric Mapping to Characterise Symptomatic Chiari-Like Malformation, Secondary Syringomyelia and Associated Brachycephaly in the Cavalier King Charles Spaniel
Susan P. Knowler, Chloe Cross, Sandra Griffiths, Angus K. McFadyen, Jelena Jovanovik, Anna Tauro, Zoha Kibar, Colin J. Driver, Roberto M. La Ragione, Clare Rusbridge
PLoS One. 2017; 12(1): e0170315. Published online 2017 Jan 25. doi: 10.1371/journal.pone.0170315
PMCID:
PMC5266281
AbstractArticlePDF–1.9M
2.
Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency
Christopher W Carr, Daniel Moreno-De-Luca, Colette Parker, Holly H Zimmerman, Nikki Ledbetter, Christa Lese Martin, William B Dobyns, Omar A Abdul-Rahman
Eur J Hum Genet. 2010 Nov; 18(11): 1216–1220. Published online 2010 Jun 23. doi: 10.1038/ejhg.2010.96
PMCID:
PMC2987472
AbstractArticlePDF–322K
3.
Chiari Malformation Type I: A Case-Control Association Study of 58 Developmental Genes
Aintzane Urbizu, Claudio Toma, Maria A. Poca, Juan Sahuquillo, Ester Cuenca-León, Bru Cormand, Alfons Macaya
PLoS One. 2013; 8(2): e57241. Published online 2013 Feb 21. doi: 10.1371/journal.pone.0057241
PMCID:
PMC3578784
AbstractArticlePDF–379K
4.
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia
Pierluigi Marzuillo, Anna Grandone, Ruggero Coppola, Domenico Cozzolino, Adalgisa Festa, Federica Messa, Caterina Luongo, Emanuele Miraglia del Giudice, Laura Perrone
BMC Med Genet. 2013; 14: 28. Published online 2013 Feb 23. doi: 10.1186/1471-2350-14-28
PMCID:
PMC3598247
AbstractArticlePDF–3.2M
5.
Stratified Whole Genome Linkage Analysis of Chiari Type I Malformation Implicates Known Klippel-Feil Syndrome Genes as Putative Disease Candidates
Christina A. Markunas, Karen Soldano, Kaitlyn Dunlap, Heidi Cope, Edgar Asiimwe, Jeffrey Stajich, David Enterline, Gerald Grant, Herbert Fuchs, Simon G. Gregory, Allison E. Ashley-Koch
PLoS One. 2013; 8(4): e61521. Published online 2013 Apr 19. doi: 10.1371/journal.pone.0061521
PMCID:
PMC3631233
AbstractArticlePDF–720K
6.
Clinical, radiological, and genetic similarities between patients with Chiari Type I and Type 0 malformations
Christina A. Markunas, R. Shane Tubbs, Roham Moftakhar, Allison E. Ashley-Koch, Simon G. Gregory, W. Jerry Oakes, Marcy C. Speer, Bermans J. Iskandar
J Neurosurg Pediatr. Author manuscript; available in PMC 2013 Jun 11.
Published in final edited form as: J Neurosurg Pediatr. 2012 Apr; 9(4): 372–378. doi: 10.3171/2011.12.PEDS11113
PMCID:
PMC3678957
AbstractArticlePDF–818K
7.
Triple A (Allgrove) syndrome: an unusual association with syringomyelia
Carla Bizzarri, Danila Benevento, Cesare Terzi, Angela Huebner, Marco Cappa
Ital J Pediatr. 2013; 39: 39. Published online 2013 Jun 24. doi: 10.1186/1824-7288-39-39
PMCID:
PMC3704905
AbstractArticlePDF–609K
8.
Quantitative Trait Loci (QTL) Study Identifies Novel Genomic Regions Associated to Chiari-Like Malformation in Griffon Bruxellois Dogs
Philippe Lemay, Susan P. Knowler, Samir Bouasker, Yohann Nédélec, Simon Platt, Courtenay Freeman, Georgina Child, Luis B. Barreiro, Guy A. Rouleau, Clare Rusbridge, Zoha Kibar
PLoS One. 2014; 9(4): e89816. Published online 2014 Apr 16. doi: 10.1371/journal.pone.0089816
PMCID:
PMC3989173
AbstractArticlePDF–2.5M
9.
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies
Claudia Santoro, Giuseppe Pacileo, Giuseppe Limongelli, Saverio Scianguetta, Teresa Giugliano, Giulio Piluso, Fulvio Della Ragione, Mario Cirillo, Giuseppe Mirone, Silverio Perrotta
BMC Med Genet. 2014; 15: 44. Published online 2014 Apr 26. doi: 10.1186/1471-2350-15-44
PMCID:
PMC4005403
AbstractArticlePDF–1.7M
10.
Comparison of the endocranial- and brain volumes in brachycephalic dogs, mesaticephalic dogs and Cavalier King Charles spaniels in relation to their body weight
Martin J Schmidt, Kerstin H Amort, Klaus Failing, Melanie Klingler, Martin Kramer, Nele Ondreka
Acta Vet Scand. 2014; 56(1): 30. Published online 2014 May 13. doi: 10.1186/1751-0147-56-30
PMCID:
PMC4038113
AbstractArticlePDF–1.6M
11.
Genetic evaluation and application of posterior cranial fossa traits as endophenotypes for Chiari Type I Malformation
CHRISTINA A. MARKUNAS, DAVID S. ENTERLINE, KAITLYN DUNLAP, KAREN SOLDANO, HEIDI COPE, JEFFREY STAJICH, GERALD GRANT, HERBERT FUCHS, SIMON G. GREGORY, ALLISON E. ASHLEY-KOCH
Ann Hum Genet. Author manuscript; available in PMC 2015 Jan 1.
Published in final edited form as: Ann Hum Genet. 2014 Jan; 78(1): 1–12. Published online 2013 Oct 6. doi: 10.1111/ahg.12041
PMCID:
PMC4041368
AbstractArticlePDF–441K
12.
Identification of Chiari Type I Malformation subtypes using whole genome expression profiles and cranial base morphometrics
Christina A Markunas, Eric Lock, Karen Soldano, Heidi Cope, Chien-Kuang C Ding, David S Enterline, Gerald Grant, Herbert Fuchs, Allison E Ashley-Koch, Simon G Gregory
BMC Med Genomics. 2014; 7: 39. Published online 2014 Jun 25. doi: 10.1186/1755-8794-7-39
PMCID:
PMC4082616
AbstractArticlePDF–1.0M
13.
Phenotypic Analysis of Individuals With Costello Syndrome due to HRAS p.G13C
Karen W. Gripp, Elizabeth Hopkins, Katia Sol-Church, Deborah L. Stabley, Marni E. Axelrad, Daniel Doyle, William B. Dobyns, Cindy Hudson, John Johnson, Romano Tenconi, Gail E. Graham, Ana Berta Sousa, Raoul Heller, Maria Piccione, Giovanni Corsello, Gail E. Herman, Marco Tartaglia, Angela E. Lin
Am J Med Genet A. Author manuscript; available in PMC 2014 Sep 18.
Published in final edited form as: Am J Med Genet A. 2011 Apr; 0(4): 706–716. Published online 2011 Mar 15. doi: 10.1002/ajmg.a.33884
PMCID:
PMC4166651
AbstractArticlePDF–625K
14.
Joint eQTL assessment of whole blood and dura mater tissue from individuals with Chiari type I malformation
Eric F Lock, Karen L Soldano, Melanie E Garrett, Heidi Cope, Christina A Markunas, Herbert Fuchs, Gerald Grant, David B Dunson, Simon G Gregory, Allison E Ashley-Koch
BMC Genomics. 2015; 16(1): 11. Published online 2015 Jan 22. doi: 10.1186/s12864-014-1211-8
PMCID:
PMC4342828
AbstractArticlePDF–1.3M
15.
Inheritance of Chiari-Like Malformation: Can a Mixed Breeding Reduce the Risk of Syringomyelia?
Susan P. Knowler, Henny v/d Berg, Angus McFadyen, Roberto M. La Ragione, Clare Rusbridge
PLoS One. 2016; 11(3): e0151280. Published online 2016 Mar 23. doi: 10.1371/journal.pone.0151280
PMCID:
PMC4805231
AbstractArticlePDF–7.2M
16.
Craniometric Analysis of the Hindbrain and Craniocervical Junction of Chihuahua, Affenpinscher and Cavalier King Charles Spaniel Dogs With and Without Syringomyelia Secondary to Chiari-Like Malformation
Susan P. Knowler, Anna-Mariam Kiviranta, Angus K. McFadyen, Tarja S. Jokinen, Roberto M. La Ragione, Clare Rusbridge
PLoS One. 2017; 12(1): e0169898. Published online 2017 Jan 25. doi: 10.1371/journal.pone.0169898
PMCID:
PMC5266279
AbstractArticlePDF–2.0M
17.
Prenatal diagnosis of non-typical Chiari malformation type I associated with de novo Nuclear Factor I A gene mutation: a case report
Xuan-Hong Tomai, Huu-Trung Nguyen, Thanh-Truc Nguyen Thi, Tuan-Anh Nguyen, Thuy-Vy Nguyen
J Med Case Rep. 2024; 18: 90. Published online 2024 Feb 13. doi: 10.1186/s13256-024-04361-1
PMCID:
PMC10863238
AbstractArticlePDF–1.1M
18.
Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development
Elisa Merello, Lorenzo Tattini, Alberto Magi, Andrea Accogli, Gianluca Piatelli, Marco Pavanello, Domenico Tortora, Armando Cama, Zoha Kibar, Valeria Capra, Patrizia De Marco
Eur J Hum Genet. 2017 Aug; 25(8): 952–959. Published online 2017 May 17. doi: 10.1038/ejhg.2017.71
PMCID:
PMC5567145
AbstractArticlePDF–1.5M
19.
Twelve years of chiari-like malformation and syringomyelia scanning in Cavalier King Charles Spaniels in the Netherlands: Towards a more precise phenotype
Katrien Wijnrocx, Leonie W. L. Van Bruggen, Wieteke Eggelmeijer, Erik Noorman, Arnold Jacques, Nadine Buys, Steven Janssens, Paul J. J. Mandigers
PLoS One. 2017; 12(9): e0184893. Published online 2017 Sep 21. doi: 10.1371/journal.pone.0184893
PMCID:
PMC5608246
AbstractArticlePDF–2.2M
20.
Potential damaging mutation in LRP5 from genome sequencing of the first reported chimpanzee with the Chiari malformation
Manuel Solis-Moruno, Marc de Manuel, Jessica Hernandez-Rodriguez, Claudia Fontsere, Alba Gomara-Castaño, Cristina Valsera-Naranjo, Dietmar Crailsheim, Arcadi Navarro, Miquel Llorente, Laura Riera, Olga Feliu-Olleta, Tomas Marques-Bonet
Sci Rep. 2017; 7: 15224. Published online 2017 Nov 9. doi: 10.1038/s41598-017-15544-w
Correction in:
Sci Rep. 2018; 8: 7437.
PMCID:
PMC5680330
AbstractArticlePDF–1.2M

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