-
1
-
-
0001478213
-
The cardiovascular aspects of Marfan's syndrome: A heritable disorder of connective tissue
-
1. McKusick VA. 1955. The cardiovascular aspects of Marfan's syndrome: A heritable disorder of connective tissue. Circulation 11:321-342
-
(1955)
Circulation
, vol.11
, pp. 321-342
-
-
McKusick, V.A.1
-
3
-
-
0000296991
-
Un cas de déformation congénitale des quatre membres plus prononcée aux extremites caractérisée par l'allongement des os avec un certain degré d'amincissement
-
3. Marfan A-B. 1896. Un cas de déformation congénitale des quatre membres plus prononcée aux extremites caractérisée par l'allongement des os avec un certain degré d'amincissement. Bull. Mém. Soc. Med. Hop. Paris (Ser. 3) 13:220-26
-
(1896)
Bull. Mém. Soc. Med. Hop. Paris (Ser. 3)
, vol.13
, pp. 220-226
-
-
Marfan, A.-B.1
-
4
-
-
4243665623
-
La dolichosténomélie (dolichomélie arachnodactylie)
-
4. Marfan A-B. 1938. La dolichosténomélie (dolichomélie arachnodactylie). Ann. Med. 44:5-29
-
(1938)
Ann. Med.
, vol.44
, pp. 5-29
-
-
Marfan, A.-B.1
-
5
-
-
0003164938
-
Über Arachnodaktylie. (Dystrophia mesodermalis congenita, Typus Marfan)
-
5. Weve H. 1931. Über Arachnodaktylie. (Dystrophia mesodermalis congenita, Typus Marfan). Arch. Augenheilkd. 104:1-46
-
(1931)
Arch. Augenheilkd.
, vol.104
, pp. 1-46
-
-
Weve, H.1
-
6
-
-
0001219602
-
Congenital aneurysmal dilatation of the aorta associated with arachnodactyly
-
6. Baer RW, Taussig HB, Oppenheimer EH. 1943. Congenital aneurysmal dilatation of the aorta associated with arachnodactyly. Bull. Johns Hopkins Hosp. 72:309-31
-
(1943)
Bull. Johns Hopkins Hosp.
, vol.72
, pp. 309-331
-
-
Baer, R.W.1
Taussig, H.B.2
Oppenheimer, E.H.3
-
7
-
-
0013676102
-
Arachnodactyly complicated by dislocated lens and death from rupture of dissecting aneurysm of aorta
-
7. Etter LE, Glover LP. 1943. Arachnodactyly complicated by dislocated lens and death from rupture of dissecting aneurysm of aorta. JAMA 123:88-89
-
(1943)
JAMA
, vol.123
, pp. 88-89
-
-
Etter, L.E.1
Glover, L.P.2
-
8
-
-
0015504560
-
Life expectancy and causes of death in the Marfan syndrome
-
8. Murdoch JL, Walker BA, Halpern BL, et al. 1972. Life expectancy and causes of death in the Marfan syndrome. N. Engl. J. Med. 286:804-8
-
(1972)
N. Engl. J. Med.
, vol.286
, pp. 804-808
-
-
Murdoch, J.L.1
Walker, B.A.2
Halpern, B.L.3
-
9
-
-
0025886783
-
Defects in the fibrillin gene cause the Marfan syndrome; linkage evidence and identification of a missense mutation
-
9. Dietz HC, Cutting GR, Pyeritz RE, et al. 1991. Defects in the fibrillin gene cause the Marfan syndrome; linkage evidence and identification of a missense mutation. Nature 352:337-39
-
(1991)
Nature
, vol.352
, pp. 337-339
-
-
Dietz, H.C.1
Cutting, G.R.2
Pyeritz, R.E.3
-
10
-
-
0028296142
-
Chronic β-adrenergic blockade protects the aorta in the Marfan syndrome: A prospective, randomized trial of propranolol
-
10. Shores J, Berger KR, Murphy EA, Pyeritz RE. 1994. Chronic β-adrenergic blockade protects the aorta in the Marfan syndrome: a prospective, randomized trial of propranolol. N. Engl. J. Med. 330:1335-41
-
(1994)
N. Engl. J. Med.
, vol.330
, pp. 1335-1341
-
-
Shores, J.1
Berger, K.R.2
Murphy, E.A.3
Pyeritz, R.E.4
-
11
-
-
0024419496
-
Impact of cardiovascular operation on survival in the Marfan patient
-
11. Svensson LG, Crawford ES, Coselli JS, et al. 1989. Impact of cardiovascular operation on survival in the Marfan patient. Circulation (Suppl) 80:233-42
-
(1989)
Circulation (Suppl)
, vol.80
, pp. 233-242
-
-
Svensson, L.G.1
Crawford, E.S.2
Coselli, J.S.3
-
12
-
-
0028067578
-
Composite graft repair of Marfan aneurysm of the ascending aorta: Results in 150 patients
-
12. Gott VL, Cameron DE, Pyeritz RE, et al. 1994. Composite graft repair of Marfan aneurysm of the ascending aorta: results in 150 patients. J. Card. Surg. 9:482-89
-
(1994)
J. Card. Surg.
, vol.9
, pp. 482-489
-
-
Gott, V.L.1
Cameron, D.E.2
Pyeritz, R.E.3
-
14
-
-
0033614448
-
Replacement of the aortic root in patients with Marfan's syndrome
-
14. Gott VL, Greene PS, Alejo DE, et al. 1999. Replacement of the aortic root in patients with Marfan's syndrome. N. Engl. J. Med. 340:1307-13
-
(1999)
N. Engl. J. Med.
, vol.340
, pp. 1307-1313
-
-
Gott, V.L.1
Greene, P.S.2
Alejo, D.E.3
-
15
-
-
0000104308
-
Marfan syndrome and other disorders of fibrillin
-
ed. DL Rimoin, JM Connor, RE Pyeritz. New York: Churchill Livingstone. 3rd ed.
-
15. Pyeritz RE. 1997. Marfan syndrome and other disorders of fibrillin. In Principles and Practice of Medical Genetics, ed. DL Rimoin, JM Connor, RE Pyeritz, pp. 1027-66. New York: Churchill Livingstone. 3rd ed.
-
(1997)
Principles and Practice of Medical Genetics
, pp. 1027-1066
-
-
Pyeritz, R.E.1
-
16
-
-
0024321925
-
Association of mitral valve prolapse and systemic abnormalities of connective tissue: A phenotypic continuum
-
16. Glesby MJ, Pyeritz RE. 1989. Association of mitral valve prolapse and systemic abnormalities of connective tissue: a phenotypic continuum. JAMA 262: 523-28
-
(1989)
JAMA
, vol.262
, pp. 523-528
-
-
Glesby, M.J.1
Pyeritz, R.E.2
-
17
-
-
0033168952
-
Prevalence and clinical outcome of mitral-valve prolapse
-
17. Freed LA, Levy D, Levine RA, et al. 1999. Prevalence and clinical outcome of mitral-valve prolapse. N. Engl. J. Med. 341:1-7
-
(1999)
N. Engl. J. Med.
, vol.341
, pp. 1-7
-
-
Freed, L.A.1
Levy, D.2
Levine, R.A.3
-
18
-
-
0013636991
-
-
18. McKusick VA. 1999. On-line Mendelian Inheritance in Man. www.ncbi.nlm.nih.gov/OMIM
-
(1999)
-
-
McKusick, V.A.1
-
19
-
-
0024435352
-
Pleiotropy revisited: Molecular explanations of a classic concept
-
19. Pyeritz RE. 1989. Pleiotropy revisited: molecular explanations of a classic concept. Am. J. Med. Genet. 34:124-34
-
(1989)
Am. J. Med. Genet.
, vol.34
, pp. 124-134
-
-
Pyeritz, R.E.1
-
21
-
-
0023917651
-
International nosology of heritable disorders of connective tissue, Berlin 1986
-
21. Beighton P, de Paepe A, Danks D, et al. 1988. International nosology of heritable disorders of connective tissue, Berlin 1986. Am. J. Med. Genet. 29:581-94
-
(1988)
Am. J. Med. Genet.
, vol.29
, pp. 581-594
-
-
Beighton, P.1
De Paepe, A.2
Danks, D.3
-
22
-
-
0029971236
-
Revised diagnostic criteria for the Marfan syndrome
-
22. DePaepe A, Deitz HC, Devereux RB, Hennekem R, Pyeritz RE. 1996. Revised diagnostic criteria for the Marfan syndrome. Am. J. Med. Genet. 62:417-26
-
(1996)
Am. J. Med. Genet.
, vol.62
, pp. 417-426
-
-
DePaepe, A.1
Deitz, H.C.2
Devereux, R.B.3
Hennekem, R.4
Pyeritz, R.E.5
-
23
-
-
0028852659
-
Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders
-
23. Dietz HC, Pyeritz RE. 1995. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum. Molec. Genet. 4:1799-1809
-
(1995)
Hum. Molec. Genet.
, vol.4
, pp. 1799-1809
-
-
Dietz, H.C.1
Pyeritz, R.E.2
-
24
-
-
0032491158
-
Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular diseases: Hypertrophic cardiomyopathy, long QT syndrome and Marfan syndrome
-
24. Maron BJ, Moller JH, Seidman CE, et al. 1998. Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular diseases: hypertrophic cardiomyopathy, long QT syndrome and Marfan syndrome. Circulation 98:1460-71
-
(1998)
Circulation
, vol.98
, pp. 1460-1471
-
-
Maron, B.J.1
Moller, J.H.2
Seidman, C.E.3
-
25
-
-
0028292451
-
A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome
-
25. Pereira L, Levran O, Ramirez F, et al. 1994. A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome. N. Engl. J. Med. 331:148-53
-
(1994)
N. Engl. J. Med.
, vol.331
, pp. 148-153
-
-
Pereira, L.1
Levran, O.2
Ramirez, F.3
-
26
-
-
0028329230
-
DNA diagnostics of the Marfan syndrome: Application of amplifiable polymorphic markers
-
26. Rantamäki T, Lönnqvist L, Karttunen L, et al. 1994. DNA diagnostics of the Marfan syndrome: application of amplifiable polymorphic markers. Eur. J. Hum. Genet. 2:66-75
-
(1994)
Eur. J. Hum. Genet.
, vol.2
, pp. 66-75
-
-
Rantamäki, T.1
Lönnqvist, L.2
Karttunen, L.3
-
27
-
-
0013677979
-
Prenatal diagnosis of connective tissue disorders
-
ed. A Milunsky Baltimore. MD: Johns Hopkins Univ. Press. 4th ed.
-
27. Burke LW, Pyeritz RE. 1998. Prenatal diagnosis of connective tissue disorders. In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, ed. A Milunsky, pp. 612-34. Baltimore, MD: Johns Hopkins Univ. Press. 4th ed.
-
(1998)
Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment
, pp. 612-634
-
-
Burke, L.W.1
Pyeritz, R.E.2
-
28
-
-
0027507583
-
Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome
-
28. Godfrey M, Vandemark N, Wang M, et al. 1993. Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome. Am. J. Hum. Genet. 53:472-80
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 472-480
-
-
Godfrey, M.1
Vandemark, N.2
Wang, M.3
-
30
-
-
0031924908
-
Preimplantation genetic diagnosis of human embryos for Marfan's syndrome
-
30. Blaszczyk A, Tang YX, Dietz HC, et al. 1998. Preimplantation genetic diagnosis of human embryos for Marfan's syndrome. J. Asst. Reprod. Genet. 15:281-84
-
(1998)
J. Asst. Reprod. Genet.
, vol.15
, pp. 281-284
-
-
Blaszczyk, A.1
Tang, Y.X.2
Dietz, H.C.3
-
31
-
-
0032919952
-
Preimplantation genetic diagnosis of Marfan syndrome with the use of fluorescent polymerase chain reaction and the automated laser fluorescence DNA sequencer
-
31. Sermon K, Lissens W, Messiaen L, et al. 1999. Preimplantation genetic diagnosis of Marfan syndrome with the use of fluorescent polymerase chain reaction and the automated laser fluorescence DNA sequencer. Fertil. Steril. 71:163-66
-
(1999)
Fertil. Steril.
, vol.71
, pp. 163-166
-
-
Sermon, K.1
Lissens, W.2
Messiaen, L.3
-
32
-
-
0029124756
-
Marfan syndrome as paradigm for transcript-targeted preimplantation diagnosis of heterozygous mutations
-
32. Eldadah ZA, Grifo JA, Dietz HC. 1995. Marfan syndrome as paradigm for transcript-targeted preimplantation diagnosis of heterozygous mutations. Nat. Med. 1:798-803
-
(1995)
Nat. Med.
, vol.1
, pp. 798-803
-
-
Eldadah, Z.A.1
Grifo, J.A.2
Dietz, H.C.3
-
33
-
-
0001885603
-
Marfan syndrome and related disorders
-
ed. CR Scriver, AL Beaudet, WS Sly, D Valle. New York: McGraw-Hill. 8th ed. In press
-
33. Dietz HC, Pyeritz RE. 2000. Marfan syndrome and related disorders. In The Metabolic and Molecular Bases of Inherited Disease, ed. CR Scriver, AL Beaudet, WS Sly, D Valle. New York: McGraw-Hill. 8th ed. In press
-
(2000)
The Metabolic and Molecular Bases of Inherited Disease
-
-
Dietz, H.C.1
Pyeritz, R.E.2
-
34
-
-
0024237773
-
Surgical management of children and young adults with Marfan syndrome and pectus excavatum
-
34. Scherer LR, Arn PH, Dressel D, et al. 1988. Surgical management of children and young adults with Marfan syndrome and pectus excavatum. J. Pediatr. Surg. 23:1169-72
-
(1988)
J. Pediatr. Surg.
, vol.23
, pp. 1169-1172
-
-
Scherer, L.R.1
Arn, P.H.2
Dressel, D.3
-
35
-
-
0024331891
-
Outcome of pectus excavatum in patients with Marfan syndrome and in the general population
-
35. Arn PH, Scherer LR, Haller JA Jr, Pyeritz RE. 1989. Outcome of pectus excavatum in patients with Marfan syndrome and in the general population. J. Pediatr. 115:954-58
-
(1989)
J. Pediatr.
, vol.115
, pp. 954-958
-
-
Arn, P.H.1
Scherer, L.R.2
Haller J.A., Jr.3
Pyeritz, R.E.4
-
36
-
-
0031895118
-
A 10-year review of a minimally invasive technique for the correction of pectus excavatum
-
36. Nuss D, Kelly RD, Croitoru DP, Katz ME. 1998. A 10-year review of a minimally invasive technique for the correction of pectus excavatum. J. Pediatr. Surg 33:545-52
-
(1998)
J. Pediatr. Surg
, vol.33
, pp. 545-552
-
-
Nuss, D.1
Kelly, R.D.2
Croitoru, D.P.3
Katz, M.E.4
-
37
-
-
0023235450
-
Severe spondylolisthesis and scoliosis in association with Marfan's syndrome: Case report and review of the literature
-
37. Taylor LJ. 1987. Severe spondylolisthesis and scoliosis in association with Marfan's syndrome: case report and review of the literature. Clin. Orthop. 221:207-11
-
(1987)
Clin. Orthop.
, vol.221
, pp. 207-211
-
-
Taylor, L.J.1
-
41
-
-
0016792754
-
Scoliosis in Marfan's syndrome: Its characteristics and results of treatment in 35 patients
-
41. Robins PR, Moe JH, Winter RB. 1975. Scoliosis in Marfan's syndrome: its characteristics and results of treatment in 35 patients. J. Bone Joint Surg. 57A:358-68
-
(1975)
J. Bone Joint Surg.
, vol.57 A
, pp. 358-368
-
-
Robins, P.R.1
Moe, J.H.2
Winter, R.B.3
-
43
-
-
0027744124
-
Bone mineral status of women with Marfan syndrome
-
43. Kohlmeier L, Gasner C, Marcus R. 1993. Bone mineral status of women with Marfan syndrome. Am. J. Med. 95:568-72
-
(1993)
Am. J. Med.
, vol.95
, pp. 568-572
-
-
Kohlmeier, L.1
Gasner, C.2
Marcus, R.3
-
46
-
-
0028900225
-
Marfan syndrome: Joint and skin manifestations are prevalent and correlated
-
46. Grahame R, Pyeritz RE. 1995. Marfan syndrome: joint and skin manifestations are prevalent and correlated. Br. J. Rheumatol. 34:126-31
-
(1995)
Br. J. Rheumatol.
, vol.34
, pp. 126-131
-
-
Grahame, R.1
Pyeritz, R.E.2
-
47
-
-
0028828221
-
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly
-
47. Putnam EA, Zhang H, Ramirez F, Milewicz DM. 1995. Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. Nat. Genet. 11:456-58
-
(1995)
Nat. Genet.
, vol.11
, pp. 456-458
-
-
Putnam, E.A.1
Zhang, H.2
Ramirez, F.3
Milewicz, D.M.4
-
50
-
-
0020581302
-
The Marfan syndrome in early childhood: Analysis of 15 patients diagnosed at less than 4 years of age
-
50. Sisk HE, Zahka KG, Pyeritz RE. 1983. The Marfan syndrome in early childhood: analysis of 15 patients diagnosed at less than 4 years of age. Am. J. Cardiol. 52:353-58
-
(1983)
Am. J. Cardiol.
, vol.52
, pp. 353-358
-
-
Sisk, H.E.1
Zahka, K.G.2
Pyeritz, R.E.3
-
51
-
-
0025651697
-
Diagnosis and management of Marfan syndrome during infancy
-
51. Morse RP, Rockenmacher S, Pyeritz RE, et al. 1990. Diagnosis and management of Marfan syndrome during infancy. Pediatrics 86:888-89S
-
(1990)
Pediatrics
, vol.86
-
-
Morse, R.P.1
Rockenmacher, S.2
Pyeritz, R.E.3
-
52
-
-
0030176210
-
The Marfan syndrome in childhood: Features, natural history and differential diagnosis
-
52. Pyeritz RE. 1996. The Marfan syndrome in childhood: features, natural history and differential diagnosis. Prog. Pediatr. Cardiol. 5:151-57
-
(1996)
Prog. Pediatr. Cardiol.
, vol.5
, pp. 151-157
-
-
Pyeritz, R.E.1
-
53
-
-
0024501155
-
Comparison of cardiovascular and skeletal features of primary mitral valve prolapse and Marfan syndrome
-
53. Roman MJ, Devereux RB, Kramer-Fox R, Spitzer MC. 1989. Comparison of cardiovascular and skeletal features of primary mitral valve prolapse and Marfan syndrome. Am. J. Cardiol. 63:317-21
-
(1989)
Am. J. Cardiol.
, vol.63
, pp. 317-321
-
-
Roman, M.J.1
Devereux, R.B.2
Kramer-Fox, R.3
Spitzer, M.C.4
-
54
-
-
0033168501
-
Perspectives on mitral-valve prolapse
-
54. Nishimura RA, McGoon MD. 1999. Perspectives on mitral-valve prolapse. N. Engl. J. Med. 341:48-50
-
(1999)
N. Engl. J. Med.
, vol.341
, pp. 48-50
-
-
Nishimura, R.A.1
McGoon, M.D.2
-
55
-
-
0020620407
-
Mitral valve dysfunction in the Marfan syndrome. Clinical and echocardiographic study of prevalence and natural history
-
55. Pyeritz RE, Wappel MA. 1983. Mitral valve dysfunction in the Marfan syndrome. Clinical and echocardiographic study of prevalence and natural history. Am. J. Med. 74:797-807
-
(1983)
Am. J. Med.
, vol.74
, pp. 797-807
-
-
Pyeritz, R.E.1
Wappel, M.A.2
-
56
-
-
0017703395
-
Aortic lesion in Marfan syndrome: The ultrastructure of cystic medial degeneration
-
56. Saruk M, Eisenstein R. 1977. Aortic lesion in Marfan syndrome: the ultrastructure of cystic medial degeneration. Arch. Pathol. Lab. Med. 101:74-77
-
(1977)
Arch. Pathol. Lab. Med.
, vol.101
, pp. 74-77
-
-
Saruk, M.1
Eisenstein, R.2
-
57
-
-
0028064840
-
Relation between age, arterial distensibility, and aortic dilatation in the Marfan syndrome
-
57. Jeremy RW, Huang H, Hwa J, et al. 1994. Relation between age, arterial distensibility, and aortic dilatation in the Marfan syndrome. Am. J. Cardiol. 74:369-73
-
(1994)
Am. J. Cardiol.
, vol.74
, pp. 369-373
-
-
Jeremy, R.W.1
Huang, H.2
Hwa, J.3
-
59
-
-
0031816340
-
Marfan syndrome in children and adolescents: Predictive and prognostic value of aortic root growth for screening for aortic complications
-
59. Groenink M, Rozendaal L, Naeff MSJ, et al. 1998. Marfan syndrome in children and adolescents: predictive and prognostic value of aortic root growth for screening for aortic complications. Heart 80:163-69
-
(1998)
Heart
, vol.80
, pp. 163-169
-
-
Groenink, M.1
Rozendaal, L.2
Naeff, M.S.J.3
-
60
-
-
0033136067
-
Phenotypic features and impact of beta blocker or calcium antagonist therapy on aortic lumen size in the Marfan syndrome
-
60. Rossi-Foulkes R, Roman MJ, Rosen SE, et al. 1999. Phenotypic features and impact of beta blocker or calcium antagonist therapy on aortic lumen size in the Marfan syndrome. Am. J. Cardiol. 83:1364-68
-
(1999)
Am. J. Cardiol.
, vol.83
, pp. 1364-1368
-
-
Rossi-Foulkes, R.1
Roman, M.J.2
Rosen, S.E.3
-
61
-
-
0024396654
-
Two-dimensional echocardiographic aortic root dimensions in normal children and adults
-
61. Roman MJ, Devereux RB, Kramer-Fox R, O'Loughlin J. 1989. Two-dimensional echocardiographic aortic root dimensions in normal children and adults. Am. J. Cardiol. 64:507-12
-
(1989)
Am. J. Cardiol.
, vol.64
, pp. 507-512
-
-
Roman, M.J.1
Devereux, R.B.2
Kramer-Fox, R.3
O'Loughlin, J.4
-
64
-
-
0021988104
-
Relation of mitral valve prolapse to left ventricular size in Marfan's syndrome
-
64. Lima SD, Lima JAC, Pyeritz RE, Weiss JL. 1985. Relation of mitral valve prolapse to left ventricular size in Marfan's syndrome. Am. J. Cardiol. 55:739-43
-
(1985)
Am. J. Cardiol.
, vol.55
, pp. 739-743
-
-
Lima, S.D.1
Lima, J.A.C.2
Pyeritz, R.E.3
Weiss, J.L.4
-
67
-
-
0029859527
-
Health supervision for children with Marfan syndrome
-
67. American Academy of Pediatrics. 1996. Health supervision for children with Marfan syndrome. Pediatrics 98:978-82
-
(1996)
Pediatrics
, vol.98
, pp. 978-982
-
-
-
69
-
-
0026639763
-
Assessment of ventricular performance after chronic beta-adrenergic blockade in the Marfan syndrome
-
69. Reed CM, Alpert BS. 1992. Assessment of ventricular performance after chronic beta-adrenergic blockade in the Marfan syndrome. Am. J. Cardiol. 70:541-42
-
(1992)
Am. J. Cardiol.
, vol.70
, pp. 541-542
-
-
Reed, C.M.1
Alpert, B.S.2
-
70
-
-
0027939984
-
Effect of beta-adrenergic blockade on aortic root rate of dilation in the Marfan syndrome
-
70. Salim MA, Alpert BS, Ward JC, Pyeritz RE. 1994. Effect of beta-adrenergic blockade on aortic root rate of dilation in the Marfan syndrome. Am. J. Cardiol. 74:629-33
-
(1994)
Am. J. Cardiol.
, vol.74
, pp. 629-633
-
-
Salim, M.A.1
Alpert, B.S.2
Ward, J.C.3
Pyeritz, R.E.4
-
71
-
-
0029973288
-
Aortic root complications in Marfan's syndrome: Identification of a lower risk group
-
71. Legget ME, Unger TA, O'Sullivan CK, et al. 1996. Aortic root complications in Marfan's syndrome: identification of a lower risk group. Heart 75:389-95
-
(1996)
Heart
, vol.75
, pp. 389-395
-
-
Legget, M.E.1
Unger, T.A.2
O'Sullivan, C.K.3
-
72
-
-
0030897069
-
Heterogeneous aortic response to acute β-adrenergic blockade in Marfan syndrome
-
72. Haouzi A, Berglund H, Pelikan PCD, et al. 1997. Heterogeneous aortic response to acute β-adrenergic blockade in Marfan syndrome. Am. Heart J. 133:60-63
-
(1997)
Am. Heart J.
, vol.133
, pp. 60-63
-
-
Haouzi, A.1
Berglund, H.2
Pelikan, P.C.D.3
-
73
-
-
0032576424
-
Aortic complications of Marfan's syndrome
-
73. Adams JN, Trent RJ. 1998. Aortic complications of Marfan's syndrome. Lancet 352:1722-23
-
(1998)
Lancet
, vol.352
, pp. 1722-1723
-
-
Adams, J.N.1
Trent, R.J.2
-
74
-
-
0032527660
-
Changes in aortic distensibility and pulse wave velocity assessed with magnetic resonance imaging following beta-blocker therapy in the Marfan syndrome
-
74. Groenink M, de Roos A, Mulder BJM, et al. 1998. Changes in aortic distensibility and pulse wave velocity assessed with magnetic resonance imaging following beta-blocker therapy in the Marfan syndrome. Am. J. Cardiol. 82:203-8
-
(1998)
Am. J. Cardiol.
, vol.82
, pp. 203-208
-
-
Groenink, M.1
De Roos, A.2
Mulder, B.J.M.3
-
76
-
-
0033602818
-
Central pulse pressure is a major determinant of ascending aorta dilatation in Marfan syndrome
-
75a. Jondeau G, Boutouyrie P, Lacolley P, et al. 1999. Central pulse pressure is a major determinant of ascending aorta dilatation in Marfan syndrome. Circulation 99:2677-81
-
(1999)
Circulation
, vol.99
, pp. 2677-2681
-
-
Jondeau, G.1
Boutouyrie, P.2
Lacolley, P.3
-
77
-
-
0026589845
-
An aortic valve-sparing operation for patients with aortic incompetence and aneursym of the ascending aorta
-
76. David TE, Feindel CM. 1992. An aortic valve-sparing operation for patients with aortic incompetence and aneursym of the ascending aorta. J. Thorac. Cardiovasc. Surg. 103:617-22
-
(1992)
J. Thorac. Cardiovasc. Surg.
, vol.103
, pp. 617-622
-
-
David, T.E.1
Feindel, C.M.2
-
78
-
-
4243291996
-
Quantification of regional pulse wave velocity in the Marfan aorta using magnetic resonance imaging
-
76a. Rogers WJ, Hu YL, Coast DA, et al. 1998. Quantification of regional pulse wave velocity in the Marfan aorta using magnetic resonance imaging. J. Am. Coll. Cardiol. 31:165A
-
(1998)
J. Am. Coll. Cardiol.
, vol.31
-
-
Rogers, W.J.1
Hu, Y.L.2
Coast, D.A.3
-
79
-
-
0028305866
-
Aortic valve repair in patients with Marfan syndrome and ascending aorta aneurysms due to degenerative disease
-
77. David TE. 1994. Aortic valve repair in patients with Marfan syndrome and ascending aorta aneurysms due to degenerative disease. J. Card. Surg. 9:18-87 (Suppl.)
-
(1994)
J. Card. Surg.
, vol.9
, Issue.SUPPL.
, pp. 18-87
-
-
David, T.E.1
-
80
-
-
0031965973
-
Late results of a valve-preserving operation in patients with aneurysms of the ascending aorta and root
-
78. Yacoub MH, Gehle P, Chandrasekaran V, et al. 1998. Late results of a valve-preserving operation in patients with aneurysms of the ascending aorta and root. J. Thorac. Cardiovasc. Surg. 115:1080-90
-
(1998)
J. Thorac. Cardiovasc. Surg.
, vol.115
, pp. 1080-1090
-
-
Yacoub, M.H.1
Gehle, P.2
Chandrasekaran, V.3
-
81
-
-
0028789184
-
Family history of severe cardiovascular disease in Marfan syndrome is associated with increased aortic diameter and decreased survival
-
79. Silverman DI, Gray J, Roman MJ, et al. 1995. Family history of severe cardiovascular disease in Marfan syndrome is associated with increased aortic diameter and decreased survival. J. Am. Coll. Cardiol. 26:1062-67
-
(1995)
J. Am. Coll. Cardiol.
, vol.26
, pp. 1062-1067
-
-
Silverman, D.I.1
Gray, J.2
Roman, M.J.3
-
82
-
-
0030942788
-
What is the appropriate size criterion for resection of thoracic aortic aneurysms?
-
80. Coady MA, Rizzo JA, Hammond GL, et al. 1997. What is the appropriate size criterion for resection of thoracic aortic aneurysms? J. Thorac. Cardiovasc. Surg. 113:476-91
-
(1997)
J. Thorac. Cardiovasc. Surg.
, vol.113
, pp. 476-491
-
-
Coady, M.A.1
Rizzo, J.A.2
Hammond, G.L.3
-
83
-
-
0033586990
-
Endovascular stent-graft placement for the treatment of acute aortic dissection
-
81. Dake MD, Kato N, Mitchell RS, et al. 1999. Endovascular stent-graft placement for the treatment of acute aortic dissection. N. Engl. J. Med. 340:1546-52
-
(1999)
N. Engl. J. Med.
, vol.340
, pp. 1546-1552
-
-
Dake, M.D.1
Kato, N.2
Mitchell, R.S.3
-
84
-
-
0027384210
-
Treatment of chronic expanding dissecting aneurysms of the descending thoracic and upper abdominal aorta by extended aortotomy, removal of the dissected intima, and closure
-
82. Williams GM. 1993. Treatment of chronic expanding dissecting aneurysms of the descending thoracic and upper abdominal aorta by extended aortotomy, removal of the dissected intima, and closure. J. Vasc. Surg. 18:441-49
-
(1993)
J. Vasc. Surg.
, vol.18
, pp. 441-449
-
-
Williams, G.M.1
-
85
-
-
0021327757
-
Total aortic replacement for chronic aortic dissection occurring in patients with and without Marfan's syndrome
-
83. Crawford ES, Crawford JL, Stowe CL, Safi HJ. 1984. Total aortic replacement for chronic aortic dissection occurring in patients with and without Marfan's syndrome. Ann. Surg. 199:358-62
-
(1984)
Ann. Surg.
, vol.199
, pp. 358-362
-
-
Crawford, E.S.1
Crawford, J.L.2
Stowe, C.L.3
Safi, H.J.4
-
86
-
-
0028795449
-
Prevention of infective endocarditis
-
84. Durack DT. 1995. Prevention of infective endocarditis. N. Engl. J. Med. 332:38-44
-
(1995)
N. Engl. J. Med.
, vol.332
, pp. 38-44
-
-
Durack, D.T.1
-
87
-
-
0019778662
-
Maternal and fetal complications of pregnancy in the Marfan syndrome
-
85. Pyeritz RE. 1981. Maternal and fetal complications of pregnancy in the Marfan syndrome. Am. J. Med. 71:784-90
-
(1981)
Am. J. Med.
, vol.71
, pp. 784-790
-
-
Pyeritz, R.E.1
-
88
-
-
0028889627
-
A prospective longitudinal evaluation of pregnancy in the Marfan syndrome
-
86. Rossiter JP, Morales AJ, Repke JT, et al. 1995. A prospective longitudinal evaluation of pregnancy in the Marfan syndrome. Am. J. Obstet. Gynecol. 173:1599-606
-
(1995)
Am. J. Obstet. Gynecol.
, vol.173
, pp. 1599-1606
-
-
Rossiter, J.P.1
Morales, A.J.2
Repke, J.T.3
-
90
-
-
0030868846
-
Hiatus/paraesophageal hernias in neonatal Marfan syndrome
-
88. Parida SK, Kriss VM, Hall BD. 1997. Hiatus/paraesophageal hernias in neonatal Marfan syndrome. Am. J. Med. Genet. 72:156-58
-
(1997)
Am. J. Med. Genet.
, vol.72
, pp. 156-158
-
-
Parida, S.K.1
Kriss, V.M.2
Hall, B.D.3
-
92
-
-
0027325710
-
Large sacral dural defect in Marfan syndrome
-
90. Smith MD. 1993. Large sacral dural defect in Marfan syndrome. J. Bone Joint Surg. 75-A:1067-70
-
(1993)
J. Bone Joint Surg.
, vol.75 A
, pp. 1067-1070
-
-
Smith, M.D.1
-
94
-
-
0023119078
-
Pulmonary function in the Marfan syndrome
-
92. Streeten EA, Murphy EA, Pyeritz RE. 1987. Pulmonary function in the Marfan syndrome. Chest 91:408-12
-
(1987)
Chest
, vol.91
, pp. 408-412
-
-
Streeten, E.A.1
Murphy, E.A.2
Pyeritz, R.E.3
-
95
-
-
0027457857
-
Sleep-disordered breathing in Marfan's syndrome
-
93. Cistulli PA, Sullivan CE. 1993. Sleep-disordered breathing in Marfan's syndrome. Am. Rev. Resp. Dis. 147:645-48
-
(1993)
Am. Rev. Resp. Dis.
, vol.147
, pp. 645-648
-
-
Cistulli, P.A.1
Sullivan, C.E.2
-
96
-
-
0021985859
-
Multicore disease and Marfan's syndrome: A case report
-
94. Pagès M, Echenne B, Pagès A-M, et al. 1985. Multicore disease and Marfan's syndrome: a case report. Eur. Neurol. 24:170-75
-
(1985)
Eur. Neurol.
, vol.24
, pp. 170-175
-
-
Pagès, M.1
Echenne, B.2
Pagès, A.-M.3
-
99
-
-
0013635806
-
Les formes frustes du syndrome dolichosténomélique de Marfan
-
97. Apert E. 1938. Les formes frustes du syndrome dolichosténomélique de Marfan. Nourrisson 26:1-12
-
(1938)
Nourrisson
, vol.26
, pp. 1-12
-
-
Apert, E.1
-
100
-
-
0013660658
-
Inheritance of arachnodactyly, ectopia lentis and other congenital anomalies (Marfan's syndrome) in the E. family
-
98. Lutman FC, Neel JV. 1949. Inheritance of arachnodactyly, ectopia lentis and other congenital anomalies (Marfan's syndrome) in the E. family. Arch. Ophthalmol. 41:276-305
-
(1949)
Arch. Ophthalmol.
, vol.41
, pp. 276-305
-
-
Lutman, F.C.1
Neel, J.V.2
-
101
-
-
0033364732
-
Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation
-
99. Collod-Béroud G, Lackmy-Port-Lys M, Jondeau G, et al. 1999. Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation. Am. J. Hum. Genet. 65:917-21
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 917-921
-
-
Collod-Béroud, G.1
Lackmy-Port-Lys, M.2
Jondeau, G.3
-
102
-
-
0015314585
-
Parental age effects on the occurrence of new mutations for the Marfan syndrome
-
100. Murdoch JL, Walker BA, McKusick VA. 1972. Parental age effects on the occurrence of new mutations for the Marfan syndrome. Ann. Hum. Genet. 35:331-36
-
(1972)
Ann. Hum. Genet.
, vol.35
, pp. 331-336
-
-
Murdoch, J.L.1
Walker, B.A.2
McKusick, V.A.3
-
103
-
-
0028150713
-
A compound heterozygous Marfan patient: Two defective fibrillin alleles result in a lethal phenotype
-
101. Kartunnen L, Raghunath M, Lönnqvist L, Peltonen L. 1994. A compound heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype. Am. J. Hum. Genet. 55: 1083-91
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 1083-1091
-
-
Kartunnen, L.1
Raghunath, M.2
Lönnqvist, L.3
Peltonen, L.4
-
104
-
-
0023002893
-
Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils
-
102. Sakai LY, Keene DR, Engvall E. 1986. Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J. Cell Biol. 103:2499-2509
-
(1986)
J. Cell Biol.
, vol.103
, pp. 2499-2509
-
-
Sakai, L.Y.1
Keene, D.R.2
Engvall, E.3
-
105
-
-
0028242719
-
Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms
-
103. Aoyama T, Francke U, Dietz HC, Furthmayr H. 1994. Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms. J. Clin. Invest. 94: 130-37
-
(1994)
J. Clin. Invest.
, vol.94
, pp. 130-137
-
-
Aoyama, T.1
Francke, U.2
Dietz, H.C.3
Furthmayr, H.4
-
106
-
-
0031181536
-
Acending aortic aneurysm with or without features of Marfan syndrome and other fibrillinopathies: New insights
-
104. Furthmayr H, Francke U. 1997. Acending aortic aneurysm with or without features of Marfan syndrome and other fibrillinopathies: new insights. Sem. Thorac. Cardiovasc. Surg. 9(3):191-205
-
(1997)
Sem. Thorac. Cardiovasc. Surg.
, vol.9
, Issue.3
, pp. 191-205
-
-
Furthmayr, H.1
Francke, U.2
-
107
-
-
0029051066
-
Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders
-
105. Aoyama T, Francke U, Gasner C, Furthmayr H. 1995. Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders. Am. J. Med. Genet. 58:169-72
-
(1995)
Am. J. Med. Genet.
, vol.58
, pp. 169-172
-
-
Aoyama, T.1
Francke, U.2
Gasner, C.3
Furthmayr, H.4
-
108
-
-
0028220980
-
Abnormal fibrillin assembly by dermal fibroblasts from two patients with the Marfan syndrome
-
106. Kielty CM, Shuttleworth CA. 1994. Abnormal fibrillin assembly by dermal fibroblasts from two patients with the Marfan syndrome. J. Cell Biol. 124:997-1004
-
(1994)
J. Cell Biol.
, vol.124
, pp. 997-1004
-
-
Kielty, C.M.1
Shuttleworth, C.A.2
-
109
-
-
0029263728
-
The question of heterogeneity in Marfan syndrome
-
107. Dietz H, Francke U, Furthmayr H, et al. 1995. The question of heterogeneity in Marfan syndrome. Nat. Genet. 9:228-29
-
(1995)
Nat. Genet.
, vol.9
, pp. 228-229
-
-
Dietz, H.1
Francke, U.2
Furthmayr, H.3
-
110
-
-
0028037142
-
A second locus for Marfan syndrome maps to chromosome 3p24.2-p25
-
108. Collod G, Babron M-C, Jondeau G, et al. 1994. A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat. Genet. 8:264-68
-
(1994)
Nat. Genet.
, vol.8
, pp. 264-268
-
-
Collod, G.1
Babron, M.-C.2
Jondeau, G.3
-
111
-
-
0242534101
-
Marfan Database (third edition): New mutations and new routines for the software
-
109. Collod-Beroud G, Beroud C, Ades L, et al. 1998. Marfan Database (third edition): new mutations and new routines for the software. Nucl. Acids Res. 26:229-33
-
(1998)
Nucl. Acids Res.
, vol.26
, pp. 229-233
-
-
Collod-Beroud, G.1
Beroud, C.2
Ades, L.3
-
112
-
-
0027955749
-
Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15
-
110. Milewicz DM, Duvic M. 1994. Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15. Am. J. Hum. Genet. 54:447-53
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 447-453
-
-
Milewicz, D.M.1
Duvic, M.2
-
113
-
-
0029748318
-
Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome
-
111. Wang M, Kishnani P, Decker-Phillips M, et al. 1996. Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome. J. Med. Genet. 33: 760-63
-
(1996)
J. Med. Genet.
, vol.33
, pp. 760-763
-
-
Wang, M.1
Kishnani, P.2
Decker-Phillips, M.3
-
115
-
-
0032470854
-
Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome
-
113. Montgomery RA, Geraghty MT, Bull E, et al. 1998. Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome. Am. J. Hum. Genet. 63:1703-11
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 1703-1711
-
-
Montgomery, R.A.1
Geraghty, M.T.2
Bull, E.3
-
116
-
-
0023866463
-
Long-term follow-up of idiopathic mitral valve prolapse in 300 patients: A prospective study
-
114. Duren DR, Becker AE, Dunning AJ. 1988. Long-term follow-up of idiopathic mitral valve prolapse in 300 patients: a prospective study. J. Am. Coll. Cardiol. 11:42-47
-
(1988)
J. Am. Coll. Cardiol.
, vol.11
, pp. 42-47
-
-
Duren, D.R.1
Becker, A.E.2
Dunning, A.J.3
-
117
-
-
0030946538
-
Familial thoracic aortic dilatations and dissections: A case control study
-
115. Biddinger A, Rocklin M, Coselli J, Milewicz DM. 1997. Familial thoracic aortic dilatations and dissections: a case control study. J. Vasc. Surg. 25:506-11
-
(1997)
J. Vasc. Surg.
, vol.25
, pp. 506-511
-
-
Biddinger, A.1
Rocklin, M.2
Coselli, J.3
Milewicz, D.M.4
-
119
-
-
0031823564
-
Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections
-
117. Milewicz DM, Chen H, Park E-S, et al. 1998. Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections. Am. J. Cardiol. 82:474-79
-
(1998)
Am. J. Cardiol.
, vol.82
, pp. 474-479
-
-
Milewicz, D.M.1
Chen, H.2
Park, E.-S.3
-
120
-
-
0029801012
-
Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms
-
118. Milewicz DM, Michael K, Fisher N, et al. 1996. Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. Circulation 94:2708-11
-
(1996)
Circulation
, vol.94
, pp. 2708-2711
-
-
Milewicz, D.M.1
Michael, K.2
Fisher, N.3
-
121
-
-
0029001289
-
A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection
-
119. Francke U, Berg MA, Tynan K, et al. 1995. A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. Am. J. Hum. Genet. 56:1287-96
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 1287-1296
-
-
Francke, U.1
Berg, M.A.2
Tynan, K.3
-
122
-
-
0030937721
-
The pathogeneicity of the Pro1148ala substitution in the FBN1 gene: Causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent?
-
120. Schrijver I, Liu W, Francke U. 1997. The pathogeneicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent? Hum. Genet. 99:607-11
-
(1997)
Hum. Genet.
, vol.99
, pp. 607-611
-
-
Schrijver, I.1
Liu, W.2
Francke, U.3
-
123
-
-
0030975152
-
Non-Marfan idiopathic medionecrosis (cystic medial necrosis) presenting with multiple visceral artery aneurysms and diffuse connective tissue fragility: Two brothers
-
121. Kubota J, Tsunemura M, Amano S. et al. 1997. Non-Marfan idiopathic medionecrosis (cystic medial necrosis) presenting with multiple visceral artery aneurysms and diffuse connective tissue fragility: two brothers. Cardiovasc. Intervent. Radiol. 20:225-27
-
(1997)
Cardiovasc. Intervent. Radiol.
, vol.20
, pp. 225-227
-
-
Kubota, J.1
Tsunemura, M.2
Amano, S.3
-
124
-
-
0026510275
-
Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5
-
122. Tsipouras P, Del Mastro R, Sarfarazi M, et al. 1992. Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. N. Engl. J. Med. 326:905-9
-
(1992)
N. Engl. J. Med.
, vol.326
, pp. 905-909
-
-
Tsipouras, P.1
Del Mastro, R.2
Sarfarazi, M.3
-
125
-
-
0028034039
-
Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1
-
123. Edwards MJ, Challinor CJ, Colley PW, et al. 1994. Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1. Am. J. Med. Genet. 53:65-71
-
(1994)
Am. J. Med. Genet.
, vol.53
, pp. 65-71
-
-
Edwards, M.J.1
Challinor, C.J.2
Colley, P.W.3
-
126
-
-
0028335388
-
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome
-
124. Kainulainen K, Karttunen L, Puhakka L, et al. 1994. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nat. Genet. 6:64-69
-
(1994)
Nat. Genet.
, vol.6
, pp. 64-69
-
-
Kainulainen, K.1
Karttunen, L.2
Puhakka, L.3
-
127
-
-
0028902039
-
A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome
-
125. Milewicz DM, Grossfield J, Cao S-N, et al. 1995. A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. J. Clin. Invest. 95: 2373-78
-
(1995)
J. Clin. Invest.
, vol.95
, pp. 2373-2378
-
-
Milewicz, D.M.1
Grossfield, J.2
Cao, S.-N.3
-
128
-
-
0028092853
-
Congenital contractural arachnodactyly (Beals syndrome)
-
126. Viljoen D. 1994. Congenital contractural arachnodactyly (Beals syndrome). J. Med. Genet. 31:640-43
-
(1994)
J. Med. Genet.
, vol.31
, pp. 640-643
-
-
Viljoen, D.1
-
129
-
-
0031928173
-
Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development
-
127. Park ES, Putnam EA, Chitayat D, et al. 1998. Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development. Am. J. Med. Genet. 78:350-55
-
(1998)
Am. J. Med. Genet.
, vol.78
, pp. 350-355
-
-
Park, E.S.1
Putnam, E.A.2
Chitayat, D.3
-
130
-
-
0031709809
-
A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly
-
128. Babcock D, Gasner C, Francke U, Maslen C. 1998. A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly. Hum. Genet. 103:22-28
-
(1998)
Hum. Genet.
, vol.103
, pp. 22-28
-
-
Babcock, D.1
Gasner, C.2
Francke, U.3
Maslen, C.4
-
131
-
-
0030903774
-
Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts
-
129. Putnam EA, Parks ES, Aalfs CM, et al. 1997. Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts. Am. J. Hum. Genet. 60:818-27
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 818-827
-
-
Putnam, E.A.1
Parks, E.S.2
Aalfs, C.M.3
-
132
-
-
0030020322
-
Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome
-
130. Sood S, Eldadah ZA, Krause WL, et al. 1996. Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. Nat. Genet. 12: 209-11
-
(1996)
Nat. Genet.
, vol.12
, pp. 209-211
-
-
Sood, S.1
Eldadah, Z.A.2
Krause, W.L.3
-
133
-
-
0029016233
-
Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull
-
131. Saal HM, Bulas DI, Allen JF, et al. 1995. Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull. Am. J. Med. Genet. 57: 573-78
-
(1995)
Am. J. Med. Genet.
, vol.57
, pp. 573-578
-
-
Saal, H.M.1
Bulas, D.I.2
Allen, J.F.3
|