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Home > Pesquisas e Tratamento > Referência Bibliográfica

Referência Bibliográfica

Liu WO , Oefner PJ , Qian C , Odom RS , Francke U . Denaturing HPLC-identified novel FBN1 mutations, polymorphisms and sequence variants in Marfan Syndrome and related connective tissue disorders. Genet Test 1997-98; 1(4):237-42.

Collod-Beroud G , Beroud C , Ades L , Black C , Boxer M , Brock DJ , Holman KJ , de Paepe A , Francke U , Grau U , Hayward C , Klein HG , Liu W , Nuytinck L , Peltonen L , Alvarez Perez AB , Rantamaki T , Junien C , Boileau C . Marfan Database (third edition): new mutations and new routines for the software. Nucleic Acids Res 1998 Jan 1; 26(1):229-3.

Schrijver I , Liu W , Francke U . The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan Syndrome and aortic aneurysm, or clinically innocent? Hum Genet 1997 May; 99(5):607-11.

Liu W , Faraco J , Qian C , Francke U . The gene for microfibril-associated protein-1 (MFAP1) is located several megabases centromeric to FBN1 and is not mutated in Marfan Syndrome. Hum Genet 1997 May; 99(5):578-84. ]

Liu W , Qian C , Francke U . Silent mutation causes exon skipping of FBN1 gene in Marfan Syndrome. Nat Genet 1997; 16:328-9.

Liu W , Qian C , Comeau K , Brenn T , Furthmayr H , Francke U . Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome. Hum Mol Genet 1996 Oct; 5(10):1581-7

Sinel'shchikova TA, Semiachkina AN, Zasukhina GD.
[DNA repair and antioxidant defence in the repair-deficient human cells (Marfan's Syndrome) after gamma-irradiation]
Radiats Biol Radioecol. 2005 Mar-Apr;45(2):145-8. Russian.
PMID: 15906854 [PubMed - indexed for MEDLINE]

Yetman AT, Bornemeier RA, McCrindle BW.
Usefulness of enalapril versus propranolol or atenolol for prevention of aortic dilation in patients with the Marfan Syndrome.
Am J Cardiol. 2005 May 1;95(9):1125-7.
PMID: 15842990 [PubMed - indexed for MEDLINE]

Maron BJ, Ackerman MJ, Nishimura RA, Pyeritz RE, Towbin JA, Udelson JE.
Task Force 4: HCM and other cardiomyopathies, mitral valve prolapse, myocarditis, and Marfan Syndrome.
J Am Coll Cardiol. 2005 Apr 19;45(8):1340-5. Review. No abstract available.
PMID: 15837284 [PubMed - indexed for MEDLINE]

Kim SY, Martin N, Hsia EC, Pyeritz RE, Albert DA.
Management of aortic disease in Marfan Syndrome: a decision analysis.
Arch Intern Med. 2005 Apr 11;165(7):749-55.
PMID: 15824293 [PubMed - indexed for MEDLINE]

Backhouse R.
Nursing considerations for people with Marfan Syndrome.
Nurs Times. 2005 Mar 22-28;101(12):32-5. Review.
PMID: 15822708 [PubMed - indexed for MEDLINE]

Baumgartner D, Baumgartner C, Matyas G, Steinmann B, Loffler-Ragg J, Schermer E, Schweigmann U, Baldissera I, Frischhut B, Hess J, Hammerer I..
Diagnostic power of aortic elastic properties in young patients with Marfan Syndrome.
J Thorac Cardiovasc Surg. 2005 Apr;129(4):730-9.
PMID: 15821637 [PubMed - indexed for MEDLINE]

Immer FF, Althaus SM, Berdat PA, Saner H, Carrel TP.
Quality of life and specific problems after cardiac surgery in adolescents and adults with congenital heart diseases.
Eur J Cardiovasc Prev Rehabil. 2005 Apr;12(2):138-43.
PMID: 15785299 [PubMed - in process]

Meijboom LJ, Timmermans J, van Tintelen JP, Nollen GJ, De Backer J, van den Berg MP, Boers GH, Mulder BJ.
Evaluation of left ventricular dimensions and function in Marfan's Syndrome without significant valvular regurgitation.
Am J Cardiol. 2005 Mar 15;95(6):795-7.
PMID: 15757617 [PubMed - indexed for MEDLINE]

Anttila V, Piaszczynski M, Mora B, Hagino I, Lacro RV, Zurakowski D, Jonas RA.
Improved outcome with composite graft versus homograft root replacement for children with aortic root aneurysms.
Eur J Cardiothorac Surg. 2005 Mar;27(3):420-4. Epub 2005 Jan 23.
PMID: 15740950 [PubMed - indexed for MEDLINE]

Finlay M, Laperriere N, Bristow RG.
Radiotherapy and Marfan Syndrome: a report of two cases.
Clin Oncol (R Coll Radiol). 2005 Feb;17(1):54-6.
PMID: 15714930 [PubMed - indexed for MEDLINE]

Krasemann T, Kotthoff S, Kehl HG, Debus V, Tjan TD, Schmid C, Vogt J, Scheld HH.
Cardiac transplantation in neonatal Marfan Syndrome -- a life-saving approach.
Thorac Cardiovasc Surg. 2005 Feb;53 Suppl 2:S146-8.
PMID: 15704038 [PubMed - indexed for MEDLINE]

Ince H, Rehders TC, Petzsch M, Kische S, Nienaber CA.
Stent-grafts in patients with marfan syndrome.
J Endovasc Ther. 2005 Feb;12(1):82-8.
PMID: 15683276 [PubMed - indexed for MEDLINE]

Iguchi A, Saiki Y, Oda K, Tabayashi K.
Results of aortic surgery in patients with Marfan Syndrome.
Surg Today. 2005;35(2):106-11.
PMID: 15674489 [PubMed - indexed for MEDLINE]

van Dijk N, Immink RV, Mulder BJ, van Lieshout JJ, Wieling W.
Orthostatic blood pressure control in Marfan's Syndrome.
Europace. 2005 Jan;7(1):25-7.
PMID: 15670963 [PubMed - indexed for MEDLINE]

Kasikcioglu E..
Aortic elastic properties in athletes with Marfanoid habitus: the need for early and accurate diagnostic methods.
Eur Heart J. 2005 Jan;26(1):100; author reply 100-1. Epub 2004 Nov 30. No abstract available.
PMID: 15615807 [PubMed - indexed for MEDLINE]

Genetic and Hereditary Aspects of the Marfan Syndrome

1. Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM, Stetten G, Meyers DA, Francomano CA. Marfan Syndrome Caused by a Recurrent de novo Missense Mutation in the Fibrillin Gene. Nature 352: 337-339; 1991.

This paper describes the identification of the first mutation in the fibrillin-1 gene in an individual with Marfan Syndrome. This work set the stage for the development of molecular genetic testing for Marfan Syndrome.

2. Pereira L, Levran O, Ramirez F, Lynch JR, Sykes B, Pyeritz RE, Dietz HC, A Molecular Approach to the Stratification of Cardiovascular Risk in Families with Marfan's Syndrome. N Engl J Med; 331: 148-153, 1994.

This work describes the methods and reagents needed to perform prenatal or presymtomatic molecular testing in families with Marfan Syndrome by linkage analysis.

3. Nijbroek G, Sood S. McIntosh I, Francomano CA, Bull E, Pereira L, Ramirez F, Pyeritz RE, Dietz HC. Fifteen Novel FBN1 Mutations Causing Marfan Syndrome Detected By Heteroduplex Analysis of Genomic Amplicons. Am J Hum Genet; 57: 8-21, 1995.

This paper described the methods and reagents to perform comprehensive mutation screening for individuals with Marfan Syndrome.

4. Montgomery RA, Dietz HC. Inhibition of Fibrillin-1 Expression Using U1 snRNA as a Vehicle for the Presentation of Antisense Targeting Sequence. Hum Mol Genet; 6: 519-525, 1997.

This work describes the development of a method to regulate fibrillin-1 gene expression in living cells. This may serve as the foundation for the development of a gene therapy strategy for Marfan Syndrome.

5. Pereira L, Andrikopoulos K, Tian J, Lee SY, Keene DR, Ono R, Reinhardt DP, Sakai LY, Jensen Biery N, Bunton T, Dietz HC, Ramirez F. Targeting of the Gene Encoding Fibrillin-1 Recapitulates the Vascular Aspect of Marfan Syndrome. Nat Genet; 17: 218-222, 1997.

This work describes the generation and characterization of the first animal model of Marfan Syndrome.

6. Montgomery RA, Bull E, Dietz HC. Multiple Molecular Mechanisms Underlying Subdiagnostic Variants of the Marfan Syndrome. AM J Hum Genet; 63: 1703-1711, 1998.

This paper describes multiple mechanisms by which fibrillin-1 gene mutations alter the amount or function of the protein.

7. Bunton TE, Biery NJ, Myers L, Gayraud B, Ramirez F, Dietz HC. Phenotypic alteration of vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan Syndrome. Circulation Research; 88: 37-43, 2001.

This work has revealed the mechanisms by which a deficiency of fibrillin-1 leads to gradual deterioration of the aortic wall, culminating in aortic aneurysm. Certain mechanisms, such an inflammation and increased production of matrix degrading enzymes, may be treatable with the use of medications.

8. Judge DP, Biery NJ, Dietz HC. Characterization of microsatellite markers flanking FBN1: Utility in the diagnostic evaluation for Marfan Syndrome. Am J Med Genet; 99: 39-47, 2001.

This paper describes newly identified genetic markers that can be used for molecular diagnosis of Marfan Syndrome. The method should be applicable to every family with multiple affected individuals.

Management of Marfan Cardiovascular Disease

1. Mitral valve operation in patients with Marfan Syndrome. Gillinov AM, Cameron DE, Pyeritz RE, Gott VL, et al. Journal of Thoracic and Cardiovascular Surgery 1994; 107: 724-31.

A retrospective review was carried out on 160 Marfan Syndrome patients who had cardiac surgical procedures at the Johns Hopkins Hospital between January 1983 and January 1993. 36 patients had mitral procedures, 29 of which were mitral repairs and seven required a mitral valve replacement. 2 4 of the 29 patients also had an aortic root replacement. There were no operative deaths. The results of this study demonstrated that 22% of the patients with the Marfan Syndrome who underwent cardiac operations at the Johns Hopkins Hospital during this time frame required a mitral valve procedure and most of the patients could be treated with a mitral repair rather than replacement.

2. Cardiac operations in children with Marfan's Syndrome: indications and results. Gillinov AM, Gott VL, and Cameron DE, et al. Annals of Thoracic Surgery 1997: 64: 1140-5.

From 1980 to 1996, 26 children (less than 18 years of age) underwent cardiac operations at the Johns Hopkins Hospital for complications of the Marfan Syndrome. Overall, 25 of the 26 children had aortic root replacement and 11 underwent an isolated or concomitant mitral valve procedure. There were no operative deaths and the 10 years survival rate was 79% ? 10%.

3. Replacement of the aortic root in patients with the Marfan Syndrome. Gott VL, Greene PS, Alejo DE, Cameron DE, Naftel DC, Miller DC, Gillinov AM, Laschinger JL, and Pyeritz RE. New England Journal of Medicine 1999; 340: 1307-13.

A total of 675 Marfan Syndrome patients underwent replacement of the aortic root in ten Marfan Syndrome surgical centers in North America and Europe. The 30 day mortality was 1.5% among 455 patients who underwent elective repair, 2.6% among 117 patients who underwent urgent repair (within 7 days after surgical consultation), and 11.7% among 103 patients who underwent emergent repair (within 24 hours after surgical consultation). Nearly one-half of the adult patients with aortic dissection at the time of surgery had an aortic root diameter of 6.5 cm or less; it therefore is prudent to undertake prophylactic repair of aortic root aneurysms in patients with the Marfan Syndrome when the diameter of the aorta reaches 5.5 cm.

4. Aortic root replacement in 271 Marfan Syndrome patients: a 24-year experience. Gott VL, Cameron, DE, Alejo DE, Greene PS, Shake JG, Capparrelli DJ, Dietz HC. Annals of Thoracic Surgery 2002; 73: 438-43.

The foregoing paper reports the world's largest series of Marfan Syndrome patients undergoing aortic root replacement. In this series, there were 236 patients who had elective aortic root replacement with no 30-day mortality. 36 patients underwent emergent surgery for aortic dissection and/or end stage heart failure; two of these patients arrived in the operating room with aortic root rupture and did not survive. Eighty-three percent of patients in this series are currently alive. The actuarial freedom from thromboembolism, endocarditis and reoperation on the residual aorta 20 years postoperatively was 93%, 90% and 74%. Twenty-four patients in this series have undergone valve-sparing procedures with encouraging results.

Management of Marfan Syndrome Ophthalmologic Problems

1. Maumenee IH: The Eye in the Marfan Syndrome. Trans Am Opthalmol Soc 1981; 79: 684-733.

The author reviewed 160 consecutive patients with the Marfan Syndrome for ocular, cardiovascular, and skeletal abnormalities, and graded them by severity. The most striking ocular abnormality was enlargement of the globe, presumably caused by scleral stretching. 193 eyes showed dislocation of the lens. There was no correlation between ocular findings, on one hand, and the skeletal and cardiovascular abnormalities on the other.. However, there was a good degree of consistency with regard to absence or presence of ocular pathology among patients in the same family.

2. Izquierdo NJ, Traboulsi EI, Enger C, Maumenee IH: Strabismus in the Marfan Syndrome. Am Journal Ophthalmol 1994 May 15; 117(5): 632-5.

Strabismus is a visual defect in which one eye may look straight ahead, while the other eye turns inward, outward, upward or downward. This study demonstrates that strabismus is more common in patients with the Marfan Syndrome than in the general population of the United States. Strabismus in Marfan Syndrome patients may be caused by ectopia lentis (dislocated lens), craniofacial abnormalities, and mechanical and genetic factors.

3. Loewenstein A, Barequet IS, De Juan E Jr, Maumenee IH: Retinal detachment in Marfan Syndrome. Retina 2000; 20(4): 358-63.

The authors examined post-surgical visual acuity in patients with Marfan Syndrome and retinal detachment. Patients who had more recent surgery for retinal detachment at the Wilmer Eye Institute had better final visual acuity than patients operated elsewhere, regardless of whether the eyes had undergone previous lens removal. In eyes operated elsewhere, final visual acuity was better in eyes that had not previously undergone lens surgery. The authors conclude that the prognosis for successful retinal detachment repair in the Marfan Syndrome patients at the Wilmer Eye Institute is good regardless of whether the eye has had prior lens removal.

Management of Marfan Syndrome Orthopedic Problems

1. Growth and Maturation in Marfan Syndrome. Erkula G, Jones KB, Sponseller PD, Dietz HC, Pyeritz RE. American Journal of Medical Genetics 2002. 109: 100-115.

Charts for growth in height weight were developed for males and females with Marfan Syndrome. Persons with Marfan Syndrome do not follow normal growth curves: They mature as much as one to two years early. This is important if one is to predict eventual height and weight fro a growing child.

2. Results of Brace Treatment of Scoliosis in Marfan Syndrome. Sponseller PD, Bhimani M, Solacoff D. Dormans JP. Spine 2000; 25(18): 2350-2354.

Brace treatment successfully controlled scoliosis in only 17% of Marfan Syndrome patients. This was a much lower rate than that seen in the general population. Bracing seems appropriate only if the curve is small and the patient is highly motivated.

3. Dural Ectasia is Associated with Back Pain in Marfan Syndrome. Ahn NU, Sponseller PD, Ahn UM, Nallamshetty L, Zinreich SJ. Spine 2000; 25(12): 1562-1568.

Dural ectasia, or enlargement of the lowest portion of the covering of the spinal cord, is common in Marfan Syndrome. This study shows that in many patients it is associated with pain.

4. Infantile Scoliosis in Marfan Syndrome. Sponseller PD, Sethi N, Cameron DE, Pyeritz RE. Spine 1997; 22(5): 509-516.

This study showed the unique aspects of infantile scoliosis in Marfan Syndrome. The many associated findings were highlighted. Brace treatment produced no lasting benefit. Suggestions for surgical management, when appropriate, were made. 5. The Thoracolumbar Spine in Marfan Syndrome. Sponseller PD, Hobbs W, Riley LH III, Pyeritz RE. Journal of Bone and Joint Surgery 1995; 77-A: 867-875.

This study for the first time demonstrated the behavior of curves in Marfan Syndrome. Curves worsen faster in growing children with Marfan Syndrome than those without it. Curves over 45 degrees were likely to worsen even during adulthood. Curves do not affect all Marfan Syndrome members of a given family.

Marfan Syndrome in the third millennium European Journal of Human Genetics 2002; Nr 10, Sid: 673-681
Psychiatric symptoms and Marfan Syndrome: Part of the syndrome or incidental to it? World Journal of Biological Psychiatry 2002; Vol 4, No 3, pp: 229-230ISSN: 1562-2975
Evaluation for sleep apnea in patients with Ehlers-Danlos Syndrome and Marfan: a questionnaire study Clinical Genetics 2001; Vol 60, pp: 360-365ISSN: 0009-9163
Marfans syndrom Vård 2001; No 3, pp: 42-44ISSN: 0281-921X
Role of DNA testing for diagnosis, management, and genetic screening in long QT syndrome, hypertrophic cardiomyopathy, and Marfan syndrome Heart 2001; Vol. 86, pp: 12-14ISSN: 1355-6037
Relationship Between Craniofacial Abnormalities ans Sleep-Disordered Breathing in Marfan's Syndrome Chest 2001; Vol. 120, No 5, pp: 1455-1460ISSN: 0012-3692
Marfan syndrom – diagnos för många specialiteter Läkartidningen 2000; No 5, pp: 464-468 ISSN: 0023-7205
RClinical considerations in the chiropractic management of the patient with marfan syndrome Journal of Manipulative and Physiological Therapeutics 2000; No 7, pp: 498-502ISSN: 0161-4754
Heritable disorders of connective tissue Baillieres clinical rheumatology 2000; No 2, pp: 345-361
Changes of elastic fibers in musculoskeletal tissues of marfan syndrome: A possible mechanism of joint laxity and skeletal overgrowth Journal of Pediatric Orthopaedics 1999; No 3, pp: 283-288
Voksne kvinner med marfan syndrom Nordisk tidsskrift for spesialpedagogikk 1998; No 3
Exercise and the marfan syndrome Medicine and science in sports and exercise 1998; pp: 387-395 ISSN: 0195-9131
Revised diagnostic criteria for the marfan syndrome American Journal of Medical Genetics 1996; Vol 62, pp: 417-426ISSN: 0148-7299
Sleep Apnea in Marfan syndrome Chest 1995; Vol 106, No 3, pp: 631-635
The marfan syndrome: joint and skin manifestations are prevalent and correlated British Journal of Rheumatology 1995; No 34, pp: 126-131 ISSN: 0263-7103
Marfans syndrom – Gammalt syndrom i nytt ljus Läkartidningen 1994; No 11, ISSN: 0023-7205
Orthopedic aspects of the marfan phenotype Clinical Orthopaedics and Related Research 1992; Vol 277, pp: 251-261 ISSN: 0009-921X
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene Nature 1991 vol. 352 25 Juli ISSN: 0028-0836

Children with Marfan syndrom
Identify and Manage Marfan Syndrome in Children The Nurse Practitioner 2002; Vol 27, No 10, pp: 26-36
Health supervision for children with marfan syndrome Pediatrics 1996; No 5, pp: 978-982

The heart
Aortic dissection: New Frontiers in Diagnosis and Management Circulation 2003: Vol 108, Nr 5, Sid: 620-635 ISSN: 0009-7322
Maze procedure in Marfan Syndrome Journal of Thoracic and Cardiovascular Surgery 2003; Vol 125, No 6, pp: 1539-1540ISSN: 0022-5223
Marfan syndrome associated with moyamoya phenomenon and aortic dissection Acta Neurochirurgica 1999; Vol 144, pp: 663-665
Replacement of the aortic root in patients with marfans syndrome New England Journal of Medicine 1999; No 17, pp: 1307-1313
Surgical treatment of aortic root aneurysm related to marfan syndrome in early childhood Pediatric Cardiology 1998; No 19, pp: 369-373 ISSN: 0172-0643
Kirurgisk behandling av aortarotsdilatation Läkartidningen 1989; 86 no 23: 2210-2213
Marfans syndrom och dilaterad aortarot – klinik, diagnostik och fallbeskrivningar Läkartidningen 1989; 86 no 23: 2207-2209

Back / Spine problems
Dural ectasia and conventional radiography in the marfan lumbosacral spine Skeletal Radiology 2001; 30: 338-345 ISSN:0364-2348
Osseous anatomy of the lumbosacral spine in marfan syndrome Spine 2000; No 21, pp: 2797-2802 ISSN: 0362-2436
Dural ectasia in the marfan syndrome: MR and CT findings and criteria Genetics in medicine 2000; No 3, pp:173-179 ISSN: 1098-3600
Dural ectasia is associated with back pain in marfan syndrome Spine 2000; 25 no 12: 1562-1568 ISSN: 0362-2436
Dural ectasia and the diagnosis of marfans syndrome The Lancet 1999 vol. 354 no 9182 11 Sep
Importance of dural ectasia in phenotypic assessment of marfans syndrome The Lancet 1999 vol. 354 no 9182 11 Sep
Anterior sacral meningocele as a pelvic complication of marfan syndrome Australian and New Zealand Journal of obstetrics and gynaecology 1999 vol. 39 no 2: 262-265
Widening of the spinal canal and dural ectasia in marfans syndrome: assessment by CT Neuroradiology 1999; 41: 850-854
The cervical spine in marfan syndrome Spine 1997 vol. 22 no 9: 983-989 ISSN: 0362-2436
Marfan syndrome and dural ectasia: a common yet little known association Australian and New Zealand Journal of Medicine 1997; 27
Marfan syndrome with back pain secondary to pedicular attenuation Spine 1995; no 10, pp: 1197-1198 ISSN: 0362-2436
The thoracolumbar spine in marfan syndrome Journal of Bone and Joint Surgery 1995; No 77, pp: 867-876 ISSN: 0301-620X
Lumbar spine in marfan syndrome keletal Radiology 1995; No 24, pp: 337-340 ISSN:0364-2348
Dural ectasia is a common feature of the marfan syndrome American Journal of Human Genetics 1988; 43: 726-732 ISSN: 0002-9297

The eyes
Vitreolensectomy in Marfan´s syndrome Eye 1998; No 12, pp: 412-416 ISSN: 0950-222X

The teeth and jaws
Oral manifestations of patients with Marfan syndrome: A case-control study Oral surgery, Oral medicine... 2002; Vol. 93, No 5, pp: 564-572 ISSN: 1079-2104
Craniofacial manifestations in the marfan syndrome: palatal dimensions and a cephalometric analysis Journal of craniofacial genetics and developmental biology 1998; No 18, pp: 211-218 ISSN: 0270-4145
Orala manifestationer vid marfans syndrom kan bidra till tidig diagnos Tandläkartidningen 1993; No 14, ISSN: 0039-6982

Marfan syndrome, aortic dilatation and pregnancy Obstetrics and gynecology 1998; No 4, Part 2 Oct. ISSN: 0029-7844
Marfan syndrome in pregnancy Current Opinion in Obstetrics and Gynecology 1997; No 9, pp: 337-341 ISSN: 1040-872X
Marfans syndrom och graviditet Läkartidningen 1993; No 3 ISSN: 0023-7205

You can borrow books and dissertations at your local library or buy them at a bookstore. If they are not held at your local library, ask the librarian if they can do an interlibrary loan (sometimes at a certain cost).

Title: The official patient´s sourcebook on Marfan syndrome
Ed: James N. Parker, Philip M. Parker
Publication year: 2002
ISBN: 059783170X
Title: The Marfan and Ehlers-Danlos syndromes and pregnancy
Author: Jan Lind
Publication year: 2000
ISBN: 090-9013071-3
Note: Dissertation
Title: Cardiovascular manifestations in Marfan syndrome
Author: Aslak Savolainen
Publication year: 2000
ISBN: 952-91-2173-3
Note: Dissertation
Title:Fibrillin defects in Marfan syndrome
Author: Terhi Rantamäki-Häkkinen
Publication year:1998
ISBN: 951-740-080-2
Note: Dissertation, University of Helsinki, Finland
Title: Molecular pathogenesis of Marfan syndrome
Author:Leena Karttunen
Publication year: 1996
ISBN: 951-740-026-8
Note:Dissertation, University of Helsinki, Finland
Title: CMolecular genetics of Marfan syndrome
Author: Katariina Kainulainen
Publication year: 2000
ISBN: 951-47-6169-3
Note: Dissertation, University of Helsinki, Finland
Title: McKusick's heritable disorders of connective tissue
Author: Beighton, P.; McKusick, V.A.
Publication year: 1992
ISBN: 0-8016-6358-X
Note: 5:e edition, about many different connective tissue disorders.

Johns Hopkins