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Select item 16822511.

Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes

Catherine Boileau, Guillaume Jondeau, Marie-Claude Babron, Monique Coulon, Jeanne-Armelle Alexandre, Lynn Sakai, Judith Melki, Gabriel Delorme, Olivier Dubourg, Catherine Bonaïti-Pellié, Jean-Pierre Bourdarias, Claudine Junien

Am J Hum Genet. 1993 Jul; 53(1): 46–54.

PMCID:: PMC1682251

Summary Page Browse PDF–1.2M

Select item 110074852.

Audiologic and Otologic Clinical Manifestations of Loeys-Dietz Syndrome: A Heritable Connective Tissue Disorder

Jun W. Jeon, Julie Christensen, Jennifer Chisholm, Christopher Zalewski, Marjohn Rasooly, Caeden Dempsey, Alaina Magnani, Pamela Frischmeyer-Guerrerio, Carmen C. Brewer, Hung Jeffrey Kim

Otolaryngol Head Neck Surg. Author manuscript; available in PMC 2024 Apr 11.

Published in final edited form as: Otolaryngol Head Neck Surg. 2022 Feb; 166(2): 357–362. Published online 2021 May 11. doi: 10.1177/01945998211008899

PMCID:: PMC11007485

Article PDF–345K

Select item 92407613.

Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2

Roland Heck, Björn Fischer-Zirnsak, Joachim Photiadis, Denise Horn, Petra Gehle

Interact Cardiovasc Thorac Surg. 2022 Jul; 35(1): ivac159. Published online 2022 Jun 11. doi: 10.1093/icvts/ivac159

PMCID:: PMC9240761

Article PDF–337K

Select item 75257834.

Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation

Priyam Jani, Quynh C Nguyen, Konstantinia Almpani, Cyrus Keyvanfar, Rashmi Mishra, Denise Liberton, Pamela Orzechowski, Pamela A Frischmeyer-Guerrerio, Olivier Duverger, Janice S Lee

J Med Genet. 2020 Oct; 57(10): 699–707. Published online 2020 Mar 8. doi: 10.1136/jmedgenet-2019-106678

PMCID:: PMC7525783

Article PDF–10M

Select item 49186055.

Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome

MINGJIA MA, ZONGZHE LI, DAO WEN WANG, XIANG WEI

Mol Med Rep. 2016 Jul; 14(1): 151–158. Published online 2016 May 9. doi: 10.3892/mmr.2016.5229

PMCID:: PMC4918605

Article PDF–837K

Select item 42365746.

Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation

Marco Ritelli, Nicola Chiarelli, Chiara Dordoni, Stefano Quinzani, Marina Venturini, Roberto Maroldi, Piergiacomo Calzavara-Pinton, Marina Colombi

BMC Med Genet. 2014; 15: 91. Published online 2014 Aug 28. doi: 10.1186/s12881-014-0091-8

PMCID:: PMC4236574

Article PDF–1.0M

Select item 39186187.

Loeys-Dietz syndrome: life threatening aortic dissection diagnosed on routine family screening

Claire A Martin, Virginia E Clowes, John P Cooper

BMJ Case Rep. 2014; 2014: bcr2013203063. Published online 2014 Feb 4. doi: 10.1136/bcr-2013-203063

PMCID:: PMC3918618

Article PDF–4.2M

Select item 38435638.

Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report

Kiyoshi Uike, Yuki Matsushita, Yasunari Sakai, Osamu Togao, Michinobu Nagao, Yoshito Ishizaki, Hazumu Nagata, Kenichiro Yamamura, Hiroyuki Torisu, Toshiro Hara

BMC Res Notes. 2013; 6: 456. Published online 2013 Nov 12. doi: 10.1186/1756-0500-6-456

PMCID:: PMC3843563

Article PDF–1.1M

Select item 36466449.

TGFBR2 Deletion in a 20-Month-Old Female With Developmental Delay and Microcephaly

Ian M. Campbell, Katarzyna E. Kolodziejska, Michael M. Quach, Varina Louise Wolf, Sau Wai Cheung, Seema R. Lalani, Melissa B. Ramocki, Pawel Stankiewicz

Am J Med Genet A. Author manuscript; available in PMC 2013 May 7.

Published in final edited form as: Am J Med Genet A. 2011 Jun; 0(6): 1442–1447. Published online 2011 May 12. doi: 10.1002/ajmg.a.34015

PMCID:: PMC3646644

Article PDF–682K

Select item 223061510.

Heterozygous TGFBR2 mutations in Marfan syndrome

Takeshi Mizuguchi, Gwenaëlle Collod-Beroud, Takushi Akiyama, Marianne Abifadel, Naoki Harada, Takayuki Morisaki, Delphine Allard, Mathilde Varret, Mireille Claustres, Hiroko Morisaki, Makoto Ihara, Akira Kinoshita, Koh-ichiro Yoshiura, Claudine Junien, Tadashi Kajii, Guillaume Jondeau, Tohru Ohta, Tatsuya Kishino, Yoichi Furukawa, Yusuke Nakamura, Norio Niikawa, Catherine Boileau, Naomichi Matsumoto

Nat Genet. Author manuscript; available in PMC 2008 Feb 11.

Published in final edited form as: Nat Genet. 2004 Aug; 36(8): 855–860. Published online 2004 Jul 4. doi: 10.1038/ng1392

PMCID:: PMC2230615

Article

Select item 146018811.

Arabidopsis mutants define an in vivo role for isoenzymes of aspartate aminotransferase in plant nitrogen assimilation.

C J Schultz, M Hsu, B Miesak, G M Coruzzi

Genetics. 1998 Jun; 149(2): 491–499. doi: 10.1093/genetics/149.2.491

PMCID:: PMC1460188

Summary PDF–310K

Select item 120542512.

A Cytogenetic Analysis of Chromosomal Region 31 of Drosophila Melanogaster

N. J. Clegg, I. P. Whitehead, J. K. Brock, D. A. Sinclair, R. Mottus, G. Stromotich, M. J. Harrington, T. A. Grigliatti

Genetics. 1993 May; 134(1): 221–230. doi: 10.1093/genetics/134.1.221

PMCID:: PMC1205425

Summary PDF–1.0M

Select item 16169113.

Molecular and Physiological Analysis of Arabidopsis Mutants Defective in Cytosolic or Chloroplastic Aspartate Aminotransferase

Barbara H. Miesak, Gloria M. Coruzzi

Plant Physiol. 2002 Jun; 129(2): 650–660. doi: 10.1104/pp.005090

PMCID:: PMC161691

Article PDF–709K

Select item 1080846514.

Definitive chemoradiation in vulvar squamous cell carcinoma: outcome and toxicity from an observational multicenter Italian study on vulvar cancer (OLDLADY 1.1)

Gabriella Macchia, Valentina Lancellotta, Martina Ferioli, Calogero Casà, Donato Pezzulla, Brigida Pappalardi, Concetta Laliscia, Edy Ippolito, Jacopo Di Muzio, Alessandra Huscher, Francesca Tortoreto, Mariangela Boccardi, Roberta Lazzari, Anna Myriam Perrone, Francesco Raspagliesi, Angiolo Gadducci, Giorgia Garganese, Simona Maria Fragomeni, Gabriella Ferrandina, Alessio Giuseppe Morganti, Maria Antonietta Gambacorta, Luca Tagliaferri

Radiol Med. 2024; 129(1): 152–159. Published online 2023 Sep 12. doi: 10.1007/s11547-023-01712-8

PMCID:: PMC10808465

Article PDF–634K

Select item 1078377415.

Physical, rheological and microscopic properties of AAT nanomaterial/crumb rubber powder composite-modified asphalt and SBS-modified asphalt

Lu Sun, Wenqing Zhong, Ziwei Xiao, Hui Qi

PLoS One. 2024; 19(1): e0284813. Published online 2024 Jan 11. doi: 10.1371/journal.pone.0284813

PMCID:: PMC10783774

Article PDF–4.0M

Select item 976458016.

Identification of a major facilitator superfamily protein that is beneficial to L-lactic acid production by Bacillus coagulans at low pH

Wenzhe Tian, Jiayang Qin, Congcong Lian, Qingshou Yao, Xiuwen Wang

BMC Microbiol. 2022; 22: 310. Published online 2022 Dec 20. doi: 10.1186/s12866-022-02736-2

PMCID:: PMC9764580

Article PDF–5.8M

Select item 932521517.

Chitosan Increases Lysine Content through Amino Acid Transporters in Flammulina filiformis

Li Tian, Zhaodi Ma, Hao Qiu, Xiaotian Liu, Tao Wu, Feng Ge, Rui Liu, Jing Zhu, Liang Shi, Ailiang Jiang, Hanshou Yu, Ang Ren

Foods. 2022 Jul; 11(14): 2163. Published online 2022 Jul 21. doi: 10.3390/foods11142163

PMCID:: PMC9325215

Article PDF–2.7M

Select item 882623718.

The Complete Mitogenome of Elymus sibiricus and Insights Into Its Evolutionary Pattern Based on Simple Repeat Sequences of Seed Plant Mitogenomes

Yanli Xiong, Qingqing Yu, Yi Xiong, Junming Zhao, Xiong Lei, Lin Liu, Wei Liu, Yan Peng, Jianbo Zhang, Daxu Li, Shiqie Bai, Xiao Ma

Front Plant Sci. 2021; 12: 802321. Published online 2022 Jan 26. doi: 10.3389/fpls.2021.802321

PMCID:: PMC8826237

Article PDF–3.2M

Select item 758530819.

Myocardial disease and ventricular arrhythmia in Marfan syndrome: a prospective study

Laura Muiño-Mosquera, Hans De Wilde, Daniel Devos, Danilo Babin, Luc Jordaens, Anthony Demolder, Katya De Groote, Daniel De Wolf, Julie De Backer

Orphanet J Rare Dis. 2020; 15: 300. Published online 2020 Oct 23. doi: 10.1186/s13023-020-01581-8

PMCID:: PMC7585308

Article PDF–1.0M

Select item 755771520.

Clinical Features and Outcomes of Pregnancy-Related Acute Aortic Dissection

Alan C. Braverman, Eric Mittauer, Kevin M. Harris, Arturo Evangelista, Reed E. Pyeritz, Derek Brinster, Lori Conklin, Toru Suzuki, Christina Fanola, Maral Ouzounian, Edward Chen, Truls Myrmel, Raffi Bekeredjian, Stuart Hutchison, Joseph Coselli, Dan Gilon, Patrick O’Gara, Melinda Davis, Eric Isselbacher, Kim Eagle

JAMA Cardiol. 2021 Jan; 6(1): 58–66. Published online 2020 Oct 14. doi: 10.1001/jamacardio.2020.4876

PMCID:: PMC7557715

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