PMC Articles for MedGen (Select 864491) - PMC

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 19181296.

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 31731897.

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

Abstract Article PDF–4.7M

Select item 35750038.

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

Abstract Article PDF–254K

Select item 40698149.

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

Abstract Article PDF–611K

Select item 480299710.

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

Abstract Article PDF–219K

Select item 514327911.

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

Abstract Article PDF–1.3M

Select item 485241112.

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

Abstract Article PDF–2.9M

Select item 526680013.

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

Abstract Article PDF–1.7M

Select item 1112208914.

High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects

Gloria K. E. Zodanu, John H. Hwang, Zubin Mehta, Carlos Sisniega, Alexander Barsegian, Xuedong Kang, Reshma Biniwale, Ming-Sing Si, Gary M. Satou, Nancy Halnon, UCLA Congenital Heart Defect BioCore Faculty, Wayne W. Grody, Glen S. Van Arsdell, Stanley F. Nelson, Marlin Touma

Int J Mol Sci. 2024 May; 25(10): 5469. Published online 2024 May 17. doi: 10.3390/ijms25105469