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Items: 1 to 20 of 27

1.
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder
Anne Gregor, Lynette G. Sadleir, Reza Asadollahi, Silvia Azzarello-Burri, Agatino Battaglia, Lilian Bomme Ousager, Paranchai Boonsawat, Ange-Line Bruel, Rebecca Buchert, Eduardo Calpena, Benjamin Cogné, Bruno Dallapiccola, Felix Distelmaier, Frances Elmslie, Laurence Faivre, Tobias B. Haack, Victoria Harrison, Alex Henderson, David Hunt, Bertrand Isidor, Pascal Joset, Satoko Kumada, Augusta M.A. Lachmeijer, Melissa Lees, Sally Ann Lynch, Francisco Martinez, Naomichi Matsumoto, Carey McDougall, Heather C. Mefford, Noriko Miyake, Candace T. Myers, Sébastien Moutton, Addie Nesbitt, Antonio Novelli, Carmen Orellana, Anita Rauch, Monica Rosello, Ken Saida, Avni B. Santani, Ajoy Sarkar, Ingrid E. Scheffer, Marwan Shinawi, Katharina Steindl, Joseph D. Symonds, Elaine H. Zackai, University of Washington Center for Mendelian Genomics, DDD Study, André Reis, Heinrich Sticht, Christiane Zweier
Am J Hum Genet. 2018 Aug 2; 103(2): 305–316. Published online 2018 Jul 26. doi: 10.1016/j.ajhg.2018.07.003
PMCID:
PMC6080769
AbstractArticlePDF–1.8M
2.
Oto-onycho-peroneal syndrome: confirmation of a syndrome.
K Devriendt, D Stoffelen, R Pfeiffer, A Leys, J P Fryns
J Med Genet. 1998 Jun; 35(6): 508–509. doi: 10.1136/jmg.35.6.508
PMCID:
PMC1051348
SummaryPage BrowsePDF–880K
3.
Cerebro-costo-mandibular Syndrome: A New Familial Developmental Disorder
B. McNicholl, B. Egan-Mitchell, J. P. Murray, J. F. Doyle, J. D. Kennedy, L. Crome
Arch Dis Child. 1970 Jun; 45(241): 421–424. doi: 10.1136/adc.45.241.421
PMCID:
PMC1647602
SummaryPage BrowsePDF–1.3M
4.
A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14
C Steiner, N Ehtesham, K Taylor, E Sebald, R Cantor, L King, X Guo, T Hang, M Hu, J Cui, B Friedman, D Norato, J Allanson, C Honeywell, G Mettler, F Field, R Lachman, D Cohn, D Krakow
J Med Genet. 2004 Apr; 41(4): 266–269. doi: 10.1136/jmg.2003.012252
PMCID:
PMC1735744
SummaryPDF–451K
5.
Mutations in the MESP2 Gene Cause Spondylothoracic Dysostosis/Jarcho-Levin Syndrome
Alberto S. Cornier, Karen Staehling-Hampton, Kym M. Delventhal, Yumiko Saga, Jean-Francois Caubet, Nobuo Sasaki, Sian Ellard, Elizabeth Young, Norman Ramirez, Simon E. Carlo, Jose Torres, John B. Emans, Peter D. Turnpenny, Olivier Pourquié
Am J Hum Genet. 2008 Jun 6; 82(6): 1334–1341. Published online 2008 May 30. doi: 10.1016/j.ajhg.2008.04.014
PMCID:
PMC2427230
AbstractArticlePDF–911K
6.
Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome
Claire Farrington-Rock, Veneta Kirilova, Lisa Dillard-Telm, Alexander D. Borowsky, Sara Chalk, Matthew J. Rock, Daniel H. Cohn, Deborah Krakow
Hum Mol Genet. Author manuscript; available in PMC 2009 May 11.
Published in final edited form as: Hum Mol Genet. 2008 Mar 1; 17(5): 631–641. Published online 2007 Jul 17. doi: 10.1093/hmg/ddm188
PMCID:
PMC2680151
AbstractArticlePDF–2.9M
7.
Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation
Baozhong Xin, Erik G. Puffenberger, Susan Turben, Haiyan Tan, Aimin Zhou, Heng Wang
Proc Natl Acad Sci U S A. 2010 Jan 5; 107(1): 258–263. Published online 2009 Dec 29. doi: 10.1073/pnas.0908457107
PMCID:
PMC2806776
AbstractArticlePDF–1.0M
8.
ATRX has a critical and conserved role in mammalian sexual differentiation
Kim Huyhn, Marilyn B Renfree, Jennifer A Graves, Andrew J Pask
BMC Dev Biol. 2011; 11: 39. Published online 2011 Jun 14. doi: 10.1186/1471-213X-11-39
PMCID:
PMC3133603
AbstractArticlePDF–2.9M
9.
Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature
Tom B Davidson, Pedro A Sanchez-Lara, Linda M Randolph, Mark D Krieger, Shi-Qi Wu, Ashok Panigrahy, Hiroyuki Shimada, Anat Erdreich-Epstein
BMC Med Genet. 2012; 13: 19. Published online 2012 Mar 22. doi: 10.1186/1471-2350-13-19
PMCID:
PMC3359208
AbstractArticlePDF–2.5M
10.
Radiographic and Tomographic Analysis in Patients with Stickler Syndrome Type I
Ali Al Kaissi, Farid Ben Chehida, Rudolf Ganger, Vladimir Kenis, Shahin Zandieh, Jochen G Hofstaetter, Klaus Klaushofer, Franz Grill
Int J Med Sci. 2013; 10(9): 1250–1258. Published online 2013 Aug 3. doi: 10.7150/ijms.4997
PMCID:
PMC3739025
AbstractArticlePDF–1.5M
11.
Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype
Fatih Bayrakli, Bulent Guclu, Cengiz Yakicier, Hatice Balaban, Ugur Kartal, Bekir Erguner, Mahmut Samil Sagiroglu, Sirin Yuksel, Ahmet Rasit Ozturk, Burak Kazanci, Unal Ozum, Hamit Zafer Kars
BMC Genet. 2013; 14: 95. Published online 2013 Sep 28. doi: 10.1186/1471-2156-14-95
PMCID:
PMC3849745
AbstractArticlePDF–2.3M
12.
Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome
Carine Le Goff, Curtis Rogers, Wilfried Le Goff, Graziella Pinto, Damien Bonnet, Maya Chrabieh, Olivier Alibeu, Patrick Nistchke, Arnold Munnich, Capucine Picard, Valérie Cormier-Daire
Am J Hum Genet. 2016 Aug 4; 99(2): 407–413. Published online 2016 Jul 14. doi: 10.1016/j.ajhg.2016.06.005
PMCID:
PMC4974068
AbstractArticlePDF–686K
13.
Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome
Raphael Carapito, Alice Goldenberg, Nicodème Paul, Angélique Pichot, Albert David, Antoine Hamel, Clémentine Dumant-Forest, Julien Leroux, Benjamin Ory, Bertrand Isidor, Seiamak Bahram
Eur J Hum Genet. 2016 Dec; 24(12): 1746–1751. Published online 2016 Jul 6. doi: 10.1038/ejhg.2016.84
PMCID:
PMC5117933
AbstractArticlePDF–1.1M
14.
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3
Sophia R. Cameron-Christie, Constance F. Wells, Marleen Simon, Marja Wessels, Candy Z.N. Tang, Wenhua Wei, Riku Takei, Coranne Aarts-Tesselaar, Sarah Sandaradura, David O. Sillence, Marie-Pierre Cordier, Hermine E. Veenstra-Knol, Matteo Cassina, Kathrin Ludkig, Eva Trevisson, Melanie Bahlo, David M. Markie, Zandra A. Jenkins, Stephen P. Robertson
Am J Hum Genet. 2018 Jun 7; 102(6): 1115–1125. Published online 2018 May 24. doi: 10.1016/j.ajhg.2018.04.008
Correction in:
Am J Hum Genet. 2019 Sep 5; 105(3): 669.
PMCID:
PMC5992117
AbstractArticlePDF–1.0M
15.
Tetraparesis following thoracic spine surgery in a patient with Klippel–Feil syndrome and ABCB4 mutation: a case report
Michele Da Broi, Aria Nouri, Gildas Patet, Luca Paun, Andrea Bartoli, Granit Molliqaj, Karl Schaller, Enrico Tessitore
J Med Case Rep. 2023; 17: 528. Published online 2023 Dec 23. doi: 10.1186/s13256-023-04263-8
PMCID:
PMC10748435
AbstractArticlePDF–1.2M
16.
Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three‐generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2
Meina Lin, Yongping Lu, Yu Sui, Ning Zhao, Ying Jin, Dongxu Yi, Miao Jiang
Mol Genet Genomic Med. 2019 Sep; 7(9): e843. Published online 2019 Jul 18. doi: 10.1002/mgg3.843
PMCID:
PMC6732274
AbstractArticlePDF–423K
17.
EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway
Jing Wu, Yi Yang, You He, Qiang Li, Xu Wang, Chengjun Sun, Lishun Wang, Yu An, Feihong Luo
Hum Genomics. 2019; 13: 63. Published online 2019 Dec 5. doi: 10.1186/s40246-019-0238-y
PMCID:
PMC6894506
AbstractArticlePDF–8.2M
18.
The mutational burden and oligogenic inheritance in Klippel-Feil syndrome
Ziquan Li, Sen Zhao, Siyi Cai, Yuanqiang Zhang, Lianlei Wang, Yuchen Niu, Xiaoxin Li, Jianhua Hu, Jingdan Chen, Shengru Wang, Huizi Wang, Gang Liu, Ye Tian, Zhihong Wu, Terry Jianguo Zhang, DISCO (Deciphering Disorders Involving Scoliosis and COmorbidities) study, Yipeng Wang, Nan Wu
BMC Musculoskelet Disord. 2020; 21: 220. Published online 2020 Apr 11. doi: 10.1186/s12891-020-03229-x
PMCID:
PMC7149842
AbstractArticlePDF–614K
19.
A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype
Fatima AbuBakr, Lauren Jeffries, Weizhen Ji, James M. McGrath, Saquib A. Lakhani
Cold Spring Harb Mol Case Stud. 2020 Jun; 6(3): a005207. doi: 10.1101/mcs.a005207
PMCID:
PMC7304360
AbstractArticlePDF–2.2M
20.
Identification of a novel pathogenic variant in the MYH3 gene in a five‐generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A)
Jing Zhang, Wen‐Qi Chen, Si‐Wen Wang, Shao‐Xiong Wang, Mei Yu, Qing Guo, Ya‐Dong Yu
Mol Genet Genomic Med. 2020 Oct; 8(10): e1440. Published online 2020 Aug 7. doi: 10.1002/mgg3.1440
PMCID:
PMC7549579
AbstractArticlePDF–1.0M

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