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Items: 1 to 20 of 87

1.
Genetic diagnosis for adult patients at a genetic clinic
Kitiwan Rojnueangnit, Pimjai Anthanont, Thanitchet Khetkham, Sukita Puttamanee, Chupong Ittiwut
Cold Spring Harb Mol Case Stud. 2022 Dec; 8(7): a006235. doi: 10.1101/mcs.a006235
PMCID:
PMC9808555
ArticlePDF–2.1M
2.
Targeted Panel Sequencing Identifies an Intronic c.5225-3C>G Variant of the FBN1 Gene Causing Sporadic Marfan Syndrome with Annuloaortic Ectasia
Kyung Hwa Kim, Tae Yun Kim, Soon Jin Kim, Yong Gon Cho, Joonhong Park, Woori Jang
Genes (Basel) 2022 Nov; 13(11): 2108. Published online 2022 Nov 13. doi: 10.3390/genes13112108
PMCID:
PMC9690865
ArticlePDF–1.6M
3.
Fibrillin-1 deficiency in the outer perichondrium causes longitudinal bone overgrowth in mice with Marfan syndrome
Lauriane Sedes, Elisa Wondimu, Brittany Crockett, Jens Hansen, Anna Cantalupo, Keiichi Asano, Ravi Iyengar, Daniel B Rifkin, Silvia Smaldone, Francesco Ramirez
Hum Mol Genet. 2022 Oct 1; 31(19): 3281–3289. Published online 2022 May 14. doi: 10.1093/hmg/ddac107
PMCID:
PMC9523555
ArticlePDF–1.2M
4.
How to Distinguish Marfan Syndrome from Marfanoid Habitus in a Physical Examination—Comparison of External Features in Patients with Marfan Syndrome and Marfanoid Habitus
Lidia Wozniak-Mielczarek, Michalina Osowicka, Alicja Radtke-Lysek, Magda Drezek-Nojowicz, Natasza Gilis-Malinowska, Anna Sabiniewicz, Maksymilian Mielczarek, Robert Sabiniewicz
Int J Environ Res Public Health. 2022 Jan; 19(2): 772. Published online 2022 Jan 11. doi: 10.3390/ijerph19020772
PMCID:
PMC8775541
ArticlePDF–1.3M
5.
Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation
Anna Clara Schnause, Katalin Komlosi, Barbara Herr, Jürgen Neesen, Paul Dremsek, Thomas Schwarz, Andreas Tzschach, Sabine Jägle, Ekkehart Lausch, Judith Fischer, Birgitta Gläser
Genes (Basel) 2021 Nov; 12(11): 1836. Published online 2021 Nov 21. doi: 10.3390/genes12111836
PMCID:
PMC8618173
ArticlePDF–874K
6.
Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly
Lin Hu, Huanzheng Li, Guang Sun, Ke Wu, Zhaotang Luan, Yanbao Xiang, Shaohua Tang
Mol Genet Genomic Med. 2021 Apr; 9(4): e1638. Published online 2021 Feb 27. doi: 10.1002/mgg3.1638
PMCID:
PMC8123754
ArticlePDF–895K
7.
Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement
Roland Stengl, András Bors, Bence Ágg, Miklós Pólos, Gabor Matyas, Mária Judit Molnár, Bálint Fekete, Dóra Csabán, Hajnalka Andrikovics, Béla Merkely, Tamás Radovits, Zoltán Szabolcs, Kálmán Benke
Orphanet J Rare Dis. 2020; 15: 290. Published online 2020 Oct 15. doi: 10.1186/s13023-020-01569-4
PMCID:
PMC7558671
ArticlePDF–1.5M
8.
Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing
Young-Lim Shin, You Na Park, Mi-Ae Jang
J Korean Med Sci. 2020 Mar 16; 35(10): e96. Published online 2020 Feb 26. doi: 10.3346/jkms.2020.35.e96
PMCID:
PMC7073314
ArticlePDF–2.7M
9.
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment
Sarah K. Fiordaliso, Aiko Iwata-Otsubo, Alyssa L. Ritter, Mathieu Quesnel-Vallières, Katsunori Fujiki, Eriko Nishi, Miroslava Hancarova, Noriko Miyake, Jenny E.V. Morton, Sangmoon Lee, Karl Hackmann, Masashige Bando, Koji Masuda, Ryuichiro Nakato, Michiko Arakawa, Elizabeth Bhoj, Dong Li, Hakon Hakonarson, Ryojun Takeda, Margaret Harr, Beth Keena, Elaine H. Zackai, Nobuhiko Okamoto, Seiji Mizuno, Jung Min Ko, Alica Valachova, Darina Prchalova, Marketa Vlckova, Tommaso Pippucci, Christoph Seiler, Murim Choi, Naomichi Matsumoto, Nataliya Di Donato, Yoseph Barash, Zdenek Sedlacek, Katsuhiko Shirahige, Kosuke Izumi
Am J Hum Genet. 2019 Nov 7; 105(5): 987–995. Published online 2019 Oct 3. doi: 10.1016/j.ajhg.2019.09.009
PMCID:
PMC6848994
ArticlePDF–1.9M
10.
The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes
Cynthia J Curry, Jill A Rosenfeld, Erica Grant, Karen W Gripp, Carol Anderson, Arthur S Aylsworth, Taha Ben Saad, Victor V Chizhikov, Giedre Dybose, Christina Fagerberg, Michelle Falco, Christina Fels, Marco Fichera, Jesper Graakjaer, Donatella Greco, Jennifer Hair, Elizabeth Hopkins, Marlene Huggins, Roger Ladda, Chumei Li, John Moeschler, Malgorzata JM Nowaczyk, Jillian R Ozmore, Santina Reitano, Corrado Romano, Laura Roos, Rhonda E Schnur, Susan Sell, Pim Suwannarat, Dea Svaneby, Marta Szybowska, Mark Tarnopolsky, Raymond Tervo, Anne Chun-Hui Tsai, Megan Tucker, Stephanie Vallee, Ferrin C Wheeler, Dina J Zand, A James Barkovich, Swaroop Aradhya, Lisa G Shaffer, William B Dobyns
Am J Med Genet A. Author manuscript; available in PMC 2017 Jul 19.
Published in final edited form as: Am J Med Genet A. 2013 Aug; 161A(8): 1833–1852. Published online 2013 Jun 27. doi: 10.1002/ajmg.a.35996
PMCID:
PMC5517092
ArticlePDF–3.3M
11.
Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing
Hao Deng, Qian Lu, Hongbo Xu, Xiong Deng, Lamei Yuan, Zhijian Yang, Yi Guo, Qiongfen Lin, Jingjing Xiao, Liping Guan, Zhi Song
PLoS One. 2016; 11(5): e0155908. Published online 2016 May 19. doi: 10.1371/journal.pone.0155908
PMCID:
PMC4873217
ArticlePDF–1.1M
12.
Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia
Xunlun Sheng, Xue Chen, Bo Lei, Rui Chen, Hui Wang, Fangxia Zhang, Weining Rong, Ruoshui Ha, Yani Liu, Feng Zhao, Peizeng Yang, Chen Zhao
J Transl Med. 2015; 13: 179. Published online 2015 Jun 4. doi: 10.1186/s12967-015-0534-9
PMCID:
PMC4455986
ArticlePDF–1.7M
13.
Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4)
Rajesh V. Thakker
Mol Cell Endocrinol. 2014 Apr 5; 386(1-2): 2–15. doi: 10.1016/j.mce.2013.08.002
PMCID:
PMC4082531
Article
14.
A Y328C missense mutation in spermine synthase causes a mild form of Snyder–Robinson syndrome
Zhe Zhang, Joy Norris, Vera Kalscheuer, Tim Wood, Lin Wang, Charles Schwartz, Emil Alexov, Hilde Van Esch
Hum Mol Genet. 2013 Sep 15; 22(18): 3789–3797. Published online 2013 May 21. doi: 10.1093/hmg/ddt229
PMCID:
PMC3749864
ArticlePDF–614K
15.
Multiple endocrine neoplasia 2B: delayed presentation, rapid diagnosis
Karthik Balachandran, Sadishkumar Kamalanathan, S Gopalakrishnan, K Murugananadham
BMJ Case Rep. 2013; 2013: bcr2013009185. Published online 2013 May 2. doi: 10.1136/bcr-2013-009185
PMCID:
PMC3669905
ArticlePDF–209K
16.
In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome
Virginie Carmignac, Julien Thevenon, Lesley Adès, Bert Callewaert, Sophie Julia, Christel Thauvin-Robinet, Lucie Gueneau, Jean-Benoit Courcet, Estelle Lopez, Katherine Holman, Marjolijn Renard, Henri Plauchu, Ghislaine Plessis, Julie De Backer, Anne Child, Gavin Arno, Laurence Duplomb, Patrick Callier, Bernard Aral, Pierre Vabres, Nadège Gigot, Eloisa Arbustini, Maurizia Grasso, Peter N. Robinson, Cyril Goizet, Clarisse Baumann, Maja Di Rocco, Jaime Sanchez Del Pozo, Frédéric Huet, Guillaume Jondeau, Gwenaëlle Collod-Beroud, Christophe Beroud, Jeanne Amiel, Valérie Cormier-Daire, Jean-Baptiste Rivière, Catherine Boileau, Anne De Paepe, Laurence Faivre
Am J Hum Genet. 2012 Nov 2; 91(5): 950–957. doi: 10.1016/j.ajhg.2012.10.002
PMCID:
PMC3487125
ArticlePDF–888K
17.
Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome
D Babovic-Vuksanovic, Ludwine Messiaen, Christoph Nagel, Hilde Brems, Bernd Scheithauer, Ellen Denayer, Rong Mao, Raf Sciot, Karen M Janowski, Martin U Schuhmann, Kathleen Claes, Eline Beert, James A Garrity, Robert J Spinner, Anat Stemmer-Rachamimov, Ralitza Gavrilova, Frank Van Calenbergh, Victor Mautner, Eric Legius
Eur J Hum Genet. 2012 Jun; 20(6): 618–625. Published online 2012 Jan 18. doi: 10.1038/ejhg.2011.275
PMCID:
PMC3355267
ArticlePDF–640K
18.
Two novel FBN1 mutations associated with ectopia lentis and marfanoid habitus in two Chinese families
Liming Zhao, Ting Liang, Jianzhen Xu, Hui Lin, Dandan Li, Yanhua Qi
Mol Vis. 2009; 15: 826–832. Published online 2009 Apr 23.
PMCID:
PMC2672146
ArticlePDF–7.9M
19.
A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome
L.E. Becerra-Solano, J. Butler, G. Castañeda-Cisneros, D.E. McCloskey, X. Wang, A.E. Pegg, C.E. Schwartz, J. Sánchez-Corona, J.E. García-Ortiz
Am J Med Genet A. Author manuscript; available in PMC 2010 Feb 1.
Published in final edited form as: Am J Med Genet A. 2009 Mar; 149A(3): 328–335. doi: 10.1002/ajmg.a.32641
PMCID:
PMC2653108
ArticlePDF–4.4M
20.
Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus
F. Lucy Raymond, Patrick S. Tarpey, Sarah Edkins, Calli Tofts, Sarah O’Meara, Jon Teague, Adam Butler, Claire Stevens, Syd Barthorpe, Gemma Buck, Jennifer Cole, Ed Dicks, Kristian Gray, Kelly Halliday, Katy Hills, Jonathon Hinton, David Jones, Andrew Menzies, Janet Perry, Keiran Raine, Rebecca Shepherd, Alexandra Small, Jennifer Varian, Sara Widaa, Uma Mallya, Jenny Moon, Ying Luo, Marie Shaw, Jackie Boyle, Bronwyn Kerr, Gillian Turner, Oliver Quarrell, Trevor Cole, Douglas F. Easton, Richard Wooster, Martin Bobrow, Charles E. Schwartz, Jozef Gecz, Michael R. Stratton, P. Andrew Futreal
Am J Hum Genet. 2007 May; 80(5): 982–987. Published online 2007 Mar 20. doi: 10.1086/513609
PMCID:
PMC1852737
ArticlePDF–504K

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