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Select item 105451691.

Severe neonatal Marfan syndrome with a novel mutation in the intron of the FBN1 gene: A case report

Su Hyun Yoon, Younghwa Kong

Medicine (Baltimore) 2021 Feb 12; 100(6): e24301. Published online 2021 Feb 12. doi: 10.1097/MD.0000000000024301

PMCID:: PMC10545169

Article PDF–639K

Select item 96323612.

A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome

Sümeyye Elgaz, Boris Wittekindt, Anoosh Esmaeili, Sebastian Fischer, Hanno J. Bolz, Ulrich Zechner, Horst Buxmann

Cold Spring Harb Mol Case Stud. 2022 Oct; 8(6): a006213. doi: 10.1101/mcs.a006213

PMCID:: PMC9632361

Article PDF–2.6M

Select item 94772023.

Extracorporeal membrane oxygenation after prosthetic valve replacement in a child with neonatal Marfan syndrome: a case report

Toranj Wadia, Ajay Desai, J Andreas Hoschtitzky, Nitha Naqvi

Eur Heart J Case Rep. 2022 Sep; 6(9): ytac358. Published online 2022 Aug 29. doi: 10.1093/ehjcr/ytac358

PMCID:: PMC9477202

Article PDF–341K

Select item 52668004.

A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team

Elliott J. Carande, Samuel J. Bilton, Satish Adwani

Case Rep Pediatr. 2017; 2017: 8952428. Published online 2017 Jan 11. doi: 10.1155/2017/8952428

PMCID:: PMC5266800

Article PDF–1.7M

Select item 51432795.

Atypical Neonatal Marfan Syndrome with p.Glu1073Lys Mutation of FBN1: the First Case in Korea

Ju Sun Heo, Joo Young Song, Eun Young Choi, Eun-Hee Kim, Ji Hee Kim, So Eun Park, Ji-Hyun Jeon

J Korean Med Sci. 2017 Jan; 32(1): 1–3. Published online 2016 Nov 28. doi: 10.3346/jkms.2017.32.1.1

PMCID:: PMC5143279

Article PDF–1.3M

Select item 48524116.

A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum

Qian Peng, Yan Deng, Yuan Yang, Hanmin Liu

BMC Pediatr. 2016; 16: 60. Published online 2016 Apr 30. doi: 10.1186/s12887-016-0598-6

PMCID:: PMC4852411

Article PDF–2.9M

Select item 48029977.

Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain

Laurianne Le Gloan, Quentin Hauet, Albert David, Nadine Hanna, Chloé Arfeuille, Pauline Arnaud, Catherine Boileau, Bénédicte Romefort, Nadir Benbrik, Véronique Gournay, Nicolas Joram, Olivier Baron, Bertrand Isidor

Mol Syndromol. 2016 Feb; 6(6): 281–286. Published online 2016 Feb 2. doi: 10.1159/000443867

PMCID:: PMC4802997

Article PDF–219K

Select item 40698148.

Neonatal Marfan syndrome: a successful early multidisciplinary approach

Marta Amado, Maria Angelina Calado, Rui Ferreira, Teresa Lourenço

BMJ Case Rep. 2014; 2014: bcr2013202438. Published online 2014 Jun 13. doi: 10.1136/bcr-2013-202438

PMCID:: PMC4069814

Article PDF–611K

Select item 35750039.

Neonatal Marfan Syndrome: Report of Two Cases

Yazdan Ghandi, Keyhan S.Zanjani, Seyed-Eshagh Mazhari-Mousavi, Nima Parvaneh

Iran J Pediatr. 2013 Feb; 23(1): 113–117.

PMCID:: PMC3575003

Article PDF–254K

Select item 317318910.

Classical and Neonatal Marfan Syndrome Mutations in Fibrillin-1 Cause Differential Protease Susceptibilities and Protein Function

Ryan Kirschner, Dirk Hubmacher, Garud Iyengar, Jasvir Kaur, Christine Fagotto-Kaufmann, Dieter Brömme, Rainer Bartels, Dieter P. Reinhardt

J Biol Chem. 2011 Sep 16; 286(37): 32810–32823. Published online 2011 Jul 22. doi: 10.1074/jbc.M111.221804

PMCID:: PMC3173189

Article PDF–4.7M

Select item 191812911.

Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15.

D. M. Milewicz, M. Duvic

Am J Hum Genet. 1994 Mar; 54(3): 447–453.

PMCID:: PMC1918129

Summary Page Browse PDF–1.5M

Select item 187089712.

Abnormal Morphology of Fibrillin Microfibrils in Fibroblast Cultures from Patients with Neonatal Marfan Syndrome

Maurice Godfrey, Michael Raghunath, Jason Cisler, Charles L. Bevins, Anne DePaepe, Maja Di Rocco, Jane Gregoritch, Kiyoshi Imaizumi, Paige Kaplan, Yoshikazu Kuroki, Michael Silberbach, Andrea Superti-Furga, Marie-Noëlle Van Thienen, Ulrich Vetter, Beat Steinmann

Am J Pathol. 1995 Jun; 146(6): 1414–1421.

PMCID:: PMC1870897

Summary Page Browse PDF–2.8M

Select item 105073113.

Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.

M Wang, P Kishnani, M Decker-Phillips, S G Kahler, Y T Chen, M Godfrey

J Med Genet. 1996 Sep; 33(9): 760–763. doi: 10.1136/jmg.33.9.760

PMCID:: PMC1050731

Summary Page Browse PDF–806K

Select item 101683114.

Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency.

I M Buntinx, P J Willems, S E Spitaels, P J Van Reempst, A M De Paepe, J E Dumon

J Med Genet. 1991 Apr; 28(4): 267–273. doi: 10.1136/jmg.28.4.267

PMCID:: PMC1016831

Summary Page Browse PDF–1.1M

Select item 101620415.

Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome.

A Superti-Furga, M Raghunath, P J Willems

J Med Genet. 1992 Dec; 29(12): 875–878. doi: 10.1136/jmg.29.12.875

PMCID:: PMC1016204

Summary Page Browse PDF–1.0M

Select item 933661816.

马方综合征的最新诊疗进展

杨书婷, 罗芳

Zhongguo Dang Dai Er Ke Za Zhi. 2022 Jul 15; 24(7): 826–831. Chinese. doi: 10.7499/j.issn.1008-8830.2203099

PMCID:: PMC9336618

Article PDF–521K

Select item 754517417.

Steered molecular dynamic simulations reveal Marfan syndrome mutations disrupt fibrillin-1 cbEGF domain mechanosensitive calcium binding

Stephen J. Haller, Adrian E. Roitberg, Andrew T. Dudley

Sci Rep. 2020; 10: 16844. Published online 2020 Oct 8. doi: 10.1038/s41598-020-73969-2

PMCID:: PMC7545174

Article PDF–5.8M

Select item 273496418.

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation

L Faivre, G Collod-Beroud, B Callewaert, A Child, C Binquet, E Gautier, B L Loeys, E Arbustini, K Mayer, M Arslan-Kirchner, C Stheneur, A Kiotsekoglou, P Comeglio, N Marziliano, J E Wolf, O Bouchot, P Khau-Van-Kien, C Beroud, M Claustres, C Bonithon-Kopp, P N Robinson, L Adès, J De Backer, P Coucke, U Francke, A De Paepe, G Jondeau, C Boileau

Eur J Hum Genet. 2009 Apr; 17(4): 491–501. Published online 2008 Nov 12. doi: 10.1038/ejhg.2008.207

PMCID:: PMC2734964

Article PDF–223K

Select item 195083719.

Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study

L. Faivre, G. Collod-Beroud, B. L. Loeys, A. Child, C. Binquet, E. Gautier, B. Callewaert, E. Arbustini, K. Mayer, M. Arslan-Kirchner, A. Kiotsekoglou, P. Comeglio, N. Marziliano, H. C. Dietz, D. Halliday, C. Beroud, C. Bonithon-Kopp, M. Claustres, C. Muti, H. Plauchu, P. N. Robinson, L. C. Adès, A. Biggin, B. Benetts, M. Brett, K. J. Holman, J. De Backer, P. Coucke, U. Francke, A. De Paepe, G. Jondeau, C. Boileau

Am J Hum Genet. 2007 Sep; 81(3): 454–466. Published online 2007 Jul 25. doi: 10.1086/520125

PMCID:: PMC1950837

Article PDF–306K

Select item 173444920.

The molecular genetics of Marfan syndrome and related microfibrillopathies

P. Robinson, M. Godfrey

J Med Genet. 2000 Jan; 37(1): 9–25. doi: 10.1136/jmg.37.1.9

PMCID:: PMC1734449

Summary PDF–250K

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