-
1
-
-
0018393854
-
The Marfan syndrome: Diagnosis and management
-
Pyeritz R, McKusick VA. The Marfan syndrome: diagnosis and management. N Engl J Med 1979;300:772-777.
-
(1979)
N Engl J Med
, vol.300
, pp. 772-777
-
-
Pyeritz, R.1
McKusick, V.A.2
-
2
-
-
33745445203
-
Challenges in the diagnosis of Marfan syndrome
-
Summers KM, West JA, Peterson MM, Stark D, McGill JJ, West MJ. Challenges in the diagnosis of Marfan syndrome. Med J Aust 2006;184:627-631.
-
(2006)
Med J Aust
, vol.184
, pp. 627-631
-
-
Summers, K.M.1
West, J.A.2
Peterson, M.M.3
Stark, D.4
McGill, J.J.5
West, M.J.6
-
3
-
-
50349096254
-
Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders
-
Pearson GD, Devereux R, Loeys B, et al. Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders. Circulation 2008; 118:785-791.
-
(2008)
Circulation
, vol.118
, pp. 785-791
-
-
Pearson, G.D.1
Devereux, R.2
Loeys, B.3
-
5
-
-
33845882724
-
Recent progress in genetics of Marfan syndrome and Marfan-associated disorders
-
Mizuguchi T, Matsumoto N. Recent progress in genetics of Marfan syndrome and Marfan-associated disorders. J Hum Genet 2007;52:1-12.
-
(2007)
J Hum Genet
, vol.52
, pp. 1-12
-
-
Mizuguchi, T.1
Matsumoto, N.2
-
7
-
-
14244250200
-
The ADAMTS metallo-proteinases
-
Porter S, Clark IM, Kevorkian L, Edwards DR. The ADAMTS metallo-proteinases. Biochem J 2005;386(Pt 1):15-27.
-
(2005)
Biochem J
, vol.386
, Issue.PART 1
, pp. 15-27
-
-
Porter, S.1
Clark, I.M.2
Kevorkian, L.3
Edwards, D.R.4
-
9
-
-
0037326089
-
Familial abdominal aortic aneurysms: Collection of 233 multiplex families
-
Kuivaniemi H, Shibamura H, Arthur C, et al. Familial abdominal aortic aneurysms: collection of 233 multiplex families. J Vasc Surg 2003;37:340-345.
-
(2003)
J Vasc Surg
, vol.37
, pp. 340-345
-
-
Kuivaniemi, H.1
Shibamura, H.2
Arthur, C.3
-
10
-
-
47149105278
-
Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families
-
Faiyaz-Ul-Haque M, Zaidi SH, Wahab AA, et al. Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. Clin Genet 2008;74:189-193.
-
(2008)
Clin Genet
, vol.74
, pp. 189-193
-
-
Faiyaz-Ul-Haque, M.1
Zaidi, S.H.2
Wahab, A.A.3
-
11
-
-
62949151326
-
A novel missense and recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome
-
Faiyaz-Ul-Haque M, Zaidi SH, Al-Sanna N, et al. A novel missense and recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome. Atherosclerosis 2009;203:466-471.
-
(2009)
Atherosclerosis
, vol.203
, pp. 466-471
-
-
Faiyaz-Ul-Haque, M.1
Zaidi, S.H.2
Al-Sanna, N.3
-
12
-
-
33947326953
-
Natural history of ascending aortic aneurysm in the setting of an unreplaced bicuspid aortic valve
-
Davies RR, Kaple RK, Mandapati D, et al. Natural history of ascending aortic aneurysm in the setting of an unreplaced bicuspid aortic valve. Ann Thorac Surg 2007;83:1338-1344.
-
(2007)
Ann Thorac Surg
, vol.83
, pp. 1338-1344
-
-
Davies, R.R.1
Kaple, R.K.2
Mandapati, D.3
-
13
-
-
24644467759
-
Mutations in NOTCH1 cause aortic valve disease
-
Garg V, Muth AN, Ransom JF, et al. Mutations in NOTCH1 cause aortic valve disease. Nature 2005;437:270-274.
-
(2005)
Nature
, vol.437
, pp. 270-274
-
-
Garg, V.1
Muth, A.N.2
Ransom, J.F.3
-
14
-
-
33748196362
-
Molecular genetics of aortic valve disease
-
Garg V. Molecular genetics of aortic valve disease. Curr Opin Cardiol 2006;21:180-184.
-
(2006)
Curr Opin Cardiol
, vol.21
, pp. 180-184
-
-
Garg, V.1
-
15
-
-
34447634252
-
Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms
-
McKellar SH, Tester DJ, Yagubyan M, Majumdar R, Ackerman MJ, Sundt TM III. Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms. J Thorac Cardiovasc Surg 2007; 134:290-296.
-
(2007)
J Thorac Cardiovasc Surg
, vol.134
, pp. 290-296
-
-
McKellar, S.H.1
Tester, D.J.2
Yagubyan, M.3
Majumdar, R.4
Ackerman, M.J.5
Sundt III, T.M.6
-
16
-
-
61949188315
-
Ascending aortic dilatation associated with bicuspid aortic valve: Pathophysiology, molecular biology, and clinical implications
-
Tadros TM, Klein MD, Shapiro OM. Ascending aortic dilatation associated with bicuspid aortic valve: pathophysiology, molecular biology, and clinical implications. Circulation 2009;119:880-890.
-
(2009)
Circulation
, vol.119
, pp. 880-890
-
-
Tadros, T.M.1
Klein, M.D.2
Shapiro, O.M.3
-
17
-
-
30744450220
-
Camurati-Engelmann disease: Review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment
-
Janssens K, Vanhoenacker F, Bonduelle M, et al. Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. J Med Genet 2006; 43:1-11.
-
(2006)
J Med Genet
, vol.43
, pp. 1-11
-
-
Janssens, K.1
Vanhoenacker, F.2
Bonduelle, M.3
-
18
-
-
33751082112
-
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
-
Toydemir RM, Brassington AE, Bayrak-Toydemir P, et al. A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. Am J Hum Genet 2006;79:935-941.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 935-941
-
-
Toydemir, R.M.1
Brassington, A.E.2
Bayrak-Toydemir, P.3
-
19
-
-
0029908699
-
Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2
-
Wang M, Clericuzio CL, Godfrey M. Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2. Am J Hum Genet 1996;59:1027-1034.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1027-1034
-
-
Wang, M.1
Clericuzio, C.L.2
Godfrey, M.3
-
20
-
-
61649103114
-
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arach-nodactyly: Report of 14 novel mutations and review of the literature
-
Callewaert BL, Loeys BL, Ficcadenti A, et al. Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arach-nodactyly: report of 14 novel mutations and review of the literature. Hum Mutat 2009;30:334-341.
-
(2009)
Hum Mutat
, vol.30
, pp. 334-341
-
-
Callewaert, B.L.1
Loeys, B.L.2
Ficcadenti, A.3
-
21
-
-
59749088792
-
The FBN2 gene: New mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations
-
Frédéric MY, Monino C, Marschall C, et al. The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations. Hum Mutat 2009;30:181-190.
-
(2009)
Hum Mutat
, vol.30
, pp. 181-190
-
-
Frédéric, M.Y.1
Monino, C.2
Marschall, C.3
-
22
-
-
34247194567
-
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly
-
Nishimura A, Sakai H, Ikegawa S, et al. FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly. Am J Med Genet A 2007;143:694-698.
-
(2007)
Am J Med Genet A
, vol.143
, pp. 694-698
-
-
Nishimura, A.1
Sakai, H.2
Ikegawa, S.3
-
23
-
-
42949108200
-
Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene
-
Graul-Neumann LM, Hausser I, Essayie M, Rauch A, Kraus C. Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. Am J Med Genet A 2008;146A:977-983.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 977-983
-
-
Graul-Neumann, L.M.1
Hausser, I.2
Essayie, M.3
Rauch, A.4
Kraus, C.5
-
24
-
-
4544258054
-
A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa
-
Rodriguez-Revenga L, Iranzo P, Badenas C, Puig S, Carrio A, Mila M. A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa. Arch Dermatol 2004;140:1135-1139.
-
(2004)
Arch Dermatol
, vol.140
, pp. 1135-1139
-
-
Rodriguez-Revenga, L.1
Iranzo, P.2
Badenas, C.3
Puig, S.4
Carrio, A.5
Mila, M.6
-
25
-
-
33645125433
-
Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene
-
Szabo Z, Crepeau MW, Mitchell AL, et al. Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. J Med Genet 2006;43:255-258.
-
(2006)
J Med Genet
, vol.43
, pp. 255-258
-
-
Szabo, Z.1
Crepeau, M.W.2
Mitchell, A.L.3
-
26
-
-
33646896247
-
Fibulin-4: A novel gene for an autosomal recessive cutis laxa syndrome
-
Hucthagowder V, Sausgruber N, Kim KH, Angle B, Marmorstein LY, Urban Z. Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet 2006;78:1075-1080.
-
(2006)
Am J Hum Genet
, vol.78
, pp. 1075-1080
-
-
Hucthagowder, V.1
Sausgruber, N.2
Kim, K.H.3
Angle, B.4
Marmorstein, L.Y.5
Urban, Z.6
-
28
-
-
37249035574
-
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation
-
Morava E, Lefeber D, Urban Z, et al. Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. Eur J Hum Genet 2008;16:28-35.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 28-35
-
-
Morava, E.1
Lefeber, D.2
Urban, Z.3
-
29
-
-
67649574728
-
Mutation in pyrroline-5-carboxy-late reductase 1 gene in families with cutis laxa type 2
-
Guernsey DL, Jiang H, Evans SC, et al. Mutation in pyrroline-5-carboxy- late reductase 1 gene in families with cutis laxa type 2. Am J Hum Genet 2009;85:120-129.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 120-129
-
-
Guernsey, D.L.1
Jiang, H.2
Evans, S.C.3
-
30
-
-
69349089323
-
Mutations in PYCR1 cause cutis laxa with progeroid features
-
Reversade B, Escande-Beillard N, Dimopoulou A, et al. Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet2009;41:1016-1021.
-
(2009)
Nat Genet
, vol.41
, pp. 1016-1021
-
-
Reversade, B.1
Escande-Beillard, N.2
Dimopoulou, A.3
-
31
-
-
37549056201
-
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
-
Kornak U, Reynders E, Dimopoulou A, et al. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet 2008;40:32-34.
-
(2008)
Nat Genet
, vol.40
, pp. 32-34
-
-
Kornak, U.1
Reynders, E.2
Dimopoulou, A.3
-
32
-
-
65149084930
-
Null mutations in LTBP2 cause primary congenital glaucoma
-
Ali M, McKibbin M, Booth A, et al. Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet 2009;84:664-671.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 664-671
-
-
Ali, M.1
McKibbin, M.2
Booth, A.3
-
33
-
-
62649175429
-
A homozygous mutation in AD-AMTSL4 causes autosomal-recessive isolated ectopia lentis
-
Ahram D, Sato TS, Kohilan A, et al. A homozygous mutation in AD-AMTSL4 causes autosomal-recessive isolated ectopia lentis. Am J Hum Genet 2009;84:274-278.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 274-278
-
-
Ahram, D.1
Sato, T.S.2
Kohilan, A.3
-
34
-
-
73949113485
-
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders
-
Attias D, Stheneur C, Roy C, et al. Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. Circulation 2009;120:2541-2549.
-
(2009)
Circulation
, vol.120
, pp. 2541-2549
-
-
Attias, D.1
Stheneur, C.2
Roy, C.3
-
35
-
-
0030963648
-
Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type i collagen
-
Byers PH, Duvic M, Atkinson M, et al. Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. Am J Med Genet 1997;72:94-105.
-
(1997)
Am J Med Genet
, vol.72
, pp. 94-105
-
-
Byers, P.H.1
Duvic, M.2
Atkinson, M.3
-
36
-
-
2342638980
-
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway
-
Schwarze U, Hata R, McKusick VA, et al. Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. Am J Hum Genet 2004;74:917-930.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 917-930
-
-
Schwarze, U.1
Hata, R.2
McKusick, V.A.3
-
37
-
-
33746813256
-
Total absence of the alpha2(1) chain of collagen type i causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems
-
Malfait F, Symoens S, Coucke P, Nunes L, De Almeida S, De Paepe A. Total absence of the alpha2(1) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. J Med Genet 2006;43:E36.
-
(2006)
J Med Genet
, vol.43
-
-
Malfait, F.1
Symoens, S.2
Coucke, P.3
Nunes, L.4
De Almeida, S.5
De Paepe, A.6
-
39
-
-
0032574641
-
Ehlers-Danlos syndromes: Revised nosology, Villefranche 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK)
-
Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ, et al. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet 1998;77:31-37.
-
(1998)
Am J Med Genet
, vol.77
, pp. 31-37
-
-
Beighton, P.1
De Paepe, A.2
Steinmann, B.3
Tsipouras, P.4
Wenstrup, R.J.5
-
40
-
-
7244221625
-
The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC)
-
Malfait F, De Coster P, Hausser I, et al. The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC). Am J Med Genet A 2004;131: 18-28.
-
(2004)
Am J Med Genet A
, vol.131
, pp. 18-28
-
-
Malfait, F.1
De Coster, P.2
Hausser, I.3
-
41
-
-
4644297498
-
Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene
-
Colige A, NuytinckL, Hausser I, et al. Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. J Invest Dermatol 2004; 123:656-663.
-
(2004)
J Invest Dermatol
, vol.123
, pp. 656-663
-
-
Colige, A.1
Nuytinckl Hausser, I.2
-
42
-
-
53049100579
-
Differential diagnosis of muscular hypotonia in infants: The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI)
-
Voermans NC, van Engelen BG. Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI). Neuromuscul Disord 2008;18:906-907.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 906-907
-
-
Voermans, N.C.1
Van Engelen, B.G.2
-
43
-
-
41549139200
-
Differential diagnosis of muscular hypotonia in infants: The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI)
-
Yiçs U, Dirik E, Chambaz C, Steinmann B, Giunta C. Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI). Neuromuscul Disord 2008;18:210-214.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 210-214
-
-
Yiçs, U.1
Dirik, E.2
Chambaz, C.3
Steinmann, B.4
Giunta, C.5
-
44
-
-
33750413645
-
A case of Ehlers Danlos syndrome type VI
-
Salavoura K, Valari M, Kolialexi A, Mavrou A, Kitsiou S. A case of Ehlers Danlos syndrome type VI. Genet Couns 2006;17:291-294.
-
(2006)
Genet Couns
, vol.17
, pp. 291-294
-
-
Salavoura, K.1
Valari, M.2
Kolialexi, A.3
Mavrou, A.4
Kitsiou, S.5
-
45
-
-
37249005221
-
The congenital disorders of glycosylation are clinical chameleons
-
Coman DJ. The congenital disorders of glycosylation are clinical chameleons. Eur J Hum Genet 2008;16:2-4.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 2-4
-
-
Coman, D.J.1
-
46
-
-
3042846793
-
A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the prog-eroid type
-
Faiyaz-Ul-Haque M, Zaidi SH, Al-Ali M, et al. A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the prog-eroid type. Am J Med Genet A 2004;128A:39-45.
-
(2004)
Am J Med Genet A
, vol.128 A
, pp. 39-45
-
-
Faiyaz-Ul-Haque, M.1
Zaidi, S.H.2
Al-Ali, M.3
-
47
-
-
44649187851
-
Spondylocheiro dysplastic form of the Ehlers-Danlos Syndrome\an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13
-
Giunta C, Elçioglu NH, Albrecht B, et al. Spondylocheiro dysplastic form of the Ehlers-Danlos Syndrome\an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. Am J Hum Genet 2008;82:1290-1305.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 1290-1305
-
-
Giunta, C.1
Elçioglu, N.H.2
Albrecht, B.3
-
48
-
-
0036314742
-
Clinical and genetic features of vascular Ehlers-Danlos syndrome
-
Germain DP. Clinical and genetic features of vascular Ehlers-Danlos syndrome. Ann Vasc Surg 2002;16:391-397.
-
(2002)
Ann Vasc Surg
, vol.16
, pp. 391-397
-
-
Germain, D.P.1
-
49
-
-
0029783775
-
Stickler syndrome type 2 and linkage to the COL11A1 gene
-
Snead MP, Yates JR, Williams R, Payne SJ, Pope FM, Scott JD. Stickler syndrome type 2 and linkage to the COL11A1 gene. Ann N Y Acad Sci 1996;785:331-332.
-
(1996)
Ann N y Acad Sci
, vol.785
, pp. 331-332
-
-
Snead, M.P.1
Yates, J.R.2
Williams, R.3
Payne, S.J.4
Pope, F.M.5
Scott, J.D.6
-
50
-
-
70350362523
-
Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome
-
Plancke A, Holder-Espinasse M, Rigau V, Manouvrier S, Claustres M, Van Kien PK. Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome. Eur J Hum Genet 2009;17:1411-1416.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 1411-1416
-
-
Plancke, A.1
Holder-Espinasse, M.2
Rigau, V.3
Manouvrier, S.4
Claustres, M.5
Van Kien, P.K.6
-
51
-
-
33747812887
-
Aneurysm syndromes caused by mutations in the TGF-beta receptor
-
Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 2006;355:788-798.
-
(2006)
N Engl J Med
, vol.355
, pp. 788-798
-
-
Loeys, B.L.1
Schwarze, U.2
Holm, T.3
-
52
-
-
67650074532
-
Neuromuscular involvement in various types of Ehlers-Danlos syndrome
-
Voermans NC, van Alfen N, Pillen S, et al. Neuromuscular involvement in various types of Ehlers-Danlos syndrome. Ann Neurol 2009;65:687-697.
-
(2009)
Ann Neurol
, vol.65
, pp. 687-697
-
-
Voermans, N.C.1
Van Alfen, N.2
Pillen, S.3
-
53
-
-
28444462887
-
Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome
-
Bristow J, Carey W, Egging D, Schalkwijk J. Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet 2005;139C:24-30.
-
(2005)
Am J Med Genet C Semin Med Genet
, vol.139 C
, pp. 24-30
-
-
Bristow, J.1
Carey, W.2
Egging, D.3
Schalkwijk, J.4
-
54
-
-
0035909658
-
A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency
-
Schalkwijk J, Zweers MC, Steijlen PM, et al. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N Engl J Med 2001;345:1167-1175.
-
(2001)
N Engl J Med
, vol.345
, pp. 1167-1175
-
-
Schalkwijk, J.1
Zweers, M.C.2
Steijlen, P.M.3
-
55
-
-
18244362337
-
Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome
-
Lindor NM, Bristow J. Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome. Am J Med Genet A 2005;135:75-80.
-
(2005)
Am J Med Genet A
, vol.135
, pp. 75-80
-
-
Lindor, N.M.1
Bristow, J.2
-
56
-
-
0035933002
-
Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder
-
Vaughan C, Casey M, He J, et al. Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. Circulation 2001;103:2469-2475.
-
(2001)
Circulation
, vol.103
, pp. 2469-2475
-
-
Vaughan, C.1
Casey, M.2
He, J.3
-
57
-
-
36549071997
-
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections
-
Guo DC, Pannu H, Tran-Fadulu V, et al. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet 2007;39:1488-1493.
-
(2007)
Nat Genet
, vol.39
, pp. 1488-1493
-
-
Guo, D.C.1
Pannu, H.2
Tran-Fadulu, V.3
-
58
-
-
69749113581
-
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations
-
Tran-Fadulu VT, Pannu H, Kim DH, et al. Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. J Med Genet 2009;46:607-613.
-
(2009)
J Med Genet
, vol.46
, pp. 607-613
-
-
Tran-Fadulu, V.T.1
Pannu, H.2
Kim, D.H.3
-
59
-
-
52949141431
-
Genetic basis of thoracic aortic aneurysms and dissections: Focus on smooth muscle cell contractile dysfunction
-
Milewicz DM, Guo DC, Tran-Fadulu V, et al. Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction. Annu Rev Genomics Hum Genet 2008;9:283-302.
-
(2008)
Annu Rev Genomics Hum Genet
, vol.9
, pp. 283-302
-
-
Milewicz, D.M.1
Guo, D.C.2
Tran-Fadulu, V.3
-
63
-
-
0038497517
-
Classical homocystinuria: Vascular risk and its prevention
-
Yap S. Classical homocystinuria: vascular risk and its prevention. J Inherit Metab Dis 2003;26:259-265.
-
(2003)
J Inherit Metab Dis
, vol.26
, pp. 259-265
-
-
Yap, S.1
-
64
-
-
53049110420
-
A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene
-
Salo AM, Cox H, Farndon P, et al. A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene. Am J Hum Genet 2008;83:495-503.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 495-503
-
-
Salo, A.M.1
Cox, H.2
Farndon, P.3
-
65
-
-
34547590052
-
Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factor-receptor genes
-
Akutsu K, Morisaki H, Takeshita S, et al. Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factor-receptor genes. Circ J 2007;71:1305-1309.
-
(2007)
Circ J
, vol.71
, pp. 1305-1309
-
-
Akutsu, K.1
Morisaki, H.2
Takeshita, S.3
-
66
-
-
33845277789
-
Psychopathology in the Lujan-Fryns syndrome: Report of two patients and review
-
Lerma-Carrillo I, Molina JD, Cuevas-Duran T, et al. Psychopathology in the Lujan-Fryns syndrome: report of two patients and review. Am J Med Genet A 2006;140:2807-2811.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 2807-2811
-
-
Lerma-Carrillo, I.1
Molina, J.D.2
Cuevas-Duran, T.3
-
67
-
-
33947597487
-
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)
-
Van Buggenhout G, Fryns JP. Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). Orphanet J Rare Dis 2006;1:26.
-
(2006)
Orphanet J Rare Dis
, vol.1
, pp. 26
-
-
Van Buggenhout, G.1
Fryns, J.P.2
-
68
-
-
0041320945
-
Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome
-
Stathopulu E, Ogilvie CM, Flinter FA. Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. Am J Med Genet A 2003;119A:363-366.
-
(2003)
Am J Med Genet A
, vol.119 A
, pp. 363-366
-
-
Stathopulu, E.1
Ogilvie, C.M.2
Flinter, F.A.3
-
69
-
-
34447342555
-
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene
-
Schwartz CE, Tarpey PS, Lubs HA, et al. The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. J Med Genet 2007;44:472-477.
-
(2007)
J Med Genet
, vol.44
, pp. 472-477
-
-
Schwartz, C.E.1
Tarpey, P.S.2
Lubs, H.A.3
-
71
-
-
34548353924
-
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syn-dromic and nonsyndromic mental retardation
-
Tarpey PS, Raymond FL, Nguyen LS, et al. Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syn-dromic and nonsyndromic mental retardation. Nat Genet 2007;39:1127-1133.
-
(2007)
Nat Genet
, vol.39
, pp. 1127-1133
-
-
Tarpey, P.S.1
Raymond, F.L.2
Nguyen, L.S.3
-
72
-
-
68249083253
-
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome
-
Basel-Vanagaite L, Sarig O, Hershkovitz D, et al. RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. Am J Hum Genet 2009;85:254-263.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 254-263
-
-
Basel-Vanagaite, L.1
Sarig, O.2
Hershkovitz, D.3
-
73
-
-
0029971236
-
Revised diagnostic criteria for the Marfan syndrome
-
De Paepe A, Devereux R, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996;62: 417-426.
-
(1996)
Am J Med Genet
, vol.62
, pp. 417-426
-
-
De Paepe, A.1
Devereux, R.2
Dietz, H.C.3
Hennekam, R.C.4
Pyeritz, R.E.5
-
74
-
-
34848816232
-
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: Report of 193 FBN1 mutations
-
Comeglio P, Johnson P, Arno G, et al. The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. Hum Mutat 2007;28:928.
-
(2007)
Hum Mutat
, vol.28
, pp. 928
-
-
Comeglio, P.1
Johnson, P.2
Arno, G.3
-
75
-
-
0029962419
-
Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene
-
Putnam EA, Cho M, Zinn AB, Towbin JA, Byers PH, Milewicz DM. Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. Am J Med Genet 1996;62:233-242.
-
(1996)
Am J Med Genet
, vol.62
, pp. 233-242
-
-
Putnam, E.A.1
Cho, M.2
Zinn, A.B.3
Towbin, J.A.4
Byers, P.H.5
Milewicz, D.M.6
-
76
-
-
0034949796
-
Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: Genotype-phenotype correlation
-
Pepe G, Giusti B, Evangelisti L, et al. Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation. Clin Genet 2001;59:444-450.
-
(2001)
Clin Genet
, vol.59
, pp. 444-450
-
-
Pepe, G.1
Giusti, B.2
Evangelisti, L.3
-
77
-
-
34548133577
-
Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome
-
De Backer J, Loeys B, Leroy B, Coucke P, Dietz H, De Paepe A. Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome. Clin Genet 2007;72:188-198.
-
(2007)
Clin Genet
, vol.72
, pp. 188-198
-
-
De Backer, J.1
Loeys, B.2
Leroy, B.3
Coucke, P.4
Dietz, H.5
De Paepe, A.6
-
78
-
-
0024321925
-
Association of mitral valve prolapse and systemic abnormalities of connective tissue: A phenotypic continuum
-
Glesby MJ, Pyeritz RE. Association of mitral valve prolapse and systemic abnormalities of connective tissue: a phenotypic continuum. JAMA 1989; 262:523-528.
-
(1989)
JAMA
, vol.262
, pp. 523-528
-
-
Glesby, M.J.1
Pyeritz, R.E.2
-
79
-
-
0033168952
-
Prevalence and clinical outcome of mitral-valve prolapse
-
Freed LA, Levy D, Levine RA, et al. Prevalence and clinical outcome of mitral-valve prolapse. N Engl J Med 1999;341:1-7.
-
(1999)
N Engl J Med
, vol.341
, pp. 1-7
-
-
Freed, L.A.1
Levy, D.2
Levine, R.A.3
-
80
-
-
34548595312
-
The genetics of mitral valve prolapse
-
Grau JB, Pirelli L, Yu PJ, Galloway AC, Ostrer H. The genetics of mitral valve prolapse. Clin Genet 2007;72:288-295.
-
(2007)
Clin Genet
, vol.72
, pp. 288-295
-
-
Grau, J.B.1
Pirelli, L.2
Yu, P.J.3
Galloway, A.C.4
Ostrer, H.5
-
81
-
-
16544395254
-
Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: Genetic arguments for a particular pathophysiological entity
-
Khau Van Kien P, Wolf JE, Mathieu F, et al. Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity. Eur J Hum Genet 2004;12:173-180.
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 173-180
-
-
Khau Van Kien, P.1
Wolf, J.E.2
Mathieu, F.3
-
82
-
-
22144495760
-
Mapping of familial thoracic aortic aneurysm/dissection with patent ductus arteriosis to 16p12.2-p13.13
-
KhauVan Kien P, Mathieu F, Zhu L, et al. Mapping of familial thoracic aortic aneurysm/dissection with patent ductus arteriosis to 16p12.2-p13.13. Circulation 2005;112:200-206.
-
(2005)
Circulation
, vol.112
, pp. 200-206
-
-
Khauvan Kien, P.1
Mathieu, F.2
Zhu, L.3
-
83
-
-
33644627494
-
Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus
-
Zhu L, Vranckx R, Khau Van Kien P, et al. Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat Genet 2006;38:343-349.
-
(2006)
Nat Genet
, vol.38
, pp. 343-349
-
-
Zhu, L.1
Vranckx, R.2
Khau Van Kien, P.3
-
84
-
-
36348932689
-
Investigation of the MYH11 gene in sporadic patients with an isolated persistently patent arterial duct
-
Zhu L, Bonnet D, Boussion M, Vedie B, Sidi D, Jeunemaitre X. Investigation of the MYH11 gene in sporadic patients with an isolated persistently patent arterial duct. Cardiol Young 2007;17:666-672.
-
(2007)
Cardiol Young
, vol.17
, pp. 666-672
-
-
Zhu, L.1
Bonnet, D.2
Boussion, M.3
Vedie, B.4
Sidi, D.5
Jeunemaitre, X.6
-
85
-
-
40349113434
-
Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2
-
van Steensel MA, van Geel M, Parren LJ, Schrander-Stumpel CT, Marcus-Soekarman D. Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2. Exp Dermatol 2008;17:362-365.
-
(2008)
Exp Dermatol
, vol.17
, pp. 362-365
-
-
Van Steensel, M.A.1
Van Geel, M.2
Parren, L.J.3
Schrander-Stumpel, C.T.4
Marcus-Soekarman, D.5
-
86
-
-
0030020322
-
Mutations in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome
-
Sood S, Eldadah ZA, Krause WL, McIntosh I, Dietz HC. Mutations in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. Nat Genet 1996;12:209-211.
-
(1996)
Nat Genet
, vol.12
, pp. 209-211
-
-
Sood, S.1
Eldadah, Z.A.2
Krause, W.L.3
McIntosh, I.4
Dietz, H.C.5
-
87
-
-
30144438033
-
Molecular pathology of Shprintzen-Goldberg syndrome
-
Kosaki K, Takahashi D, Udaka T, et al. Molecular pathology of Shprintzen-Goldberg syndrome. Am J Med Genet A 2006;140:104-108.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 104-108
-
-
Kosaki, K.1
Takahashi, D.2
Udaka, T.3
-
88
-
-
19944363541
-
Shprintzen-Goldberg syndrome: Fourteen new patients and a clinical analysis
-
Robinson PN, Neumann LM, Demuth S, et al. Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. Am J Med Genet A 2005;135:251-262.
-
(2005)
Am J Med Genet A
, vol.135
, pp. 251-262
-
-
Robinson, P.N.1
Neumann, L.M.2
Demuth, S.3
-
89
-
-
61749092136
-
A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome
-
Becerra-Solano LE, Butler J, Castanedo-Cisneros G, et al. A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome. Am J Med Genet A 2009;149A:328-335.
-
(2009)
Am J Med Genet A
, vol.149 A
, pp. 328-335
-
-
Becerra-Solano, L.E.1
Butler, J.2
Castanedo-Cisneros, G.3
-
90
-
-
0348077408
-
X-linked spermine synthase gene (SMS) defect: The first polyamine deficiency syndrome
-
Cason AL, Ikeguchi Y, Skinner C, et al. X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome. Eur J Hum Genet 2003;11:937-944.
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 937-944
-
-
Cason, A.L.1
Ikeguchi, Y.2
Skinner, C.3
-
91
-
-
50049128469
-
New SMS missense mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome
-
de Alencastro G, McCloskey DE, Kliemann SE, et al. New SMS missense mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome. J Med Genet 2008;45:539-543.
-
(2008)
J Med Genet
, vol.45
, pp. 539-543
-
-
De Alencastro, G.1
McCloskey, D.E.2
Kliemann, S.E.3
-
92
-
-
0041805505
-
The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1
-
Liberfarb RM, Levy HP, Rose PS, et al. The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1. Genet Med 2003;5:21-27.
-
(2003)
Genet Med
, vol.5
, pp. 21-27
-
-
Liberfarb, R.M.1
Levy, H.P.2
Rose, P.S.3
-
93
-
-
0032744969
-
Stickler syndrome: Further mutations in COL11A1 and evidence for additional locus heterogeneity
-
Martin S, Richards AJ, Yates JR, Scott J, Pope M, Snead MP. Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity. Eur J Hum Genet 1999;7:807-814.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 807-814
-
-
Martin, S.1
Richards, A.J.2
Yates, J.R.3
Scott, J.4
Pope, M.5
Snead, M.P.6
-
94
-
-
0242417140
-
Clinical variability of Stickler syndrome: Role of exon 2 of the collagen COL2A1 gene
-
Donoso LA, Edwards AO, Frost AT, et al. Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene. Surv Opthalmol 2003;48:191-203.
-
(2003)
Surv Opthalmol
, vol.48
, pp. 191-203
-
-
Donoso, L.A.1
Edwards, A.O.2
Frost, A.T.3
-
95
-
-
0031890446
-
Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen
-
Sirko-Osadsa DA, Murray MA, Scott JA, Lavery MA, Warman ML, Robin NH. Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen. J Pediatr 1998;132:368-371.
-
(1998)
J Pediatr
, vol.132
, pp. 368-371
-
-
Sirko-Osadsa, D.A.1
Murray, M.A.2
Scott, J.A.3
Lavery, M.A.4
Warman, M.L.5
Robin, N.H.6
-
96
-
-
6344237724
-
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome
-
Dagoneau N, Benoist-Lasselin C, Huber C, et al. ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet 2004; 75:801-806.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 801-806
-
-
Dagoneau, N.1
Benoist-Lasselin, C.2
Huber, C.3
-
97
-
-
10744219755
-
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome
-
Faivre L, Dollfus H, Lyonnet S, et al. Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet A 2003; 123A:204-207.
-
(2003)
Am J Med Genet A
, vol.123 A
, pp. 204-207
-
-
Faivre, L.1
Dollfus, H.2
Lyonnet, S.3
-
99
-
-
37549070250
-
The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: An update and review
-
Armstrong L, Graham GE, Schimke RN, et al. The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: an update and review. Am J Med Genet A 2008;146A:83-92.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 83-92
-
-
Armstrong, L.1
Graham, G.E.2
Schimke, R.N.3
-
100
-
-
33747852906
-
Marfan's syndrome and related disorders\more tightly connected than we thought
-
Gelb BD. Marfan's syndrome and related disorders\more tightly connected than we thought. N Engl J Med 2006;355:841-844.
-
(2006)
N Engl J Med
, vol.355
, pp. 841-844
-
-
Gelb, B.D.1
-
101
-
-
38649094252
-
Recent advances in understanding Marfan syndrome: Should We Now Treat Surgical Patients with Losartan?
-
Matt P, Habashi J, Carrel T, Cameron DE, Van Eyk JE, Dietz HC. Recent advances in understanding Marfan syndrome: should we now treat surgical patients with losartan? J Thorac Cardiovasc Surg 2008;135:389-394.
-
(2008)
J Thorac Cardiovasc Surg
, vol.135
, pp. 389-394
-
-
Matt, P.1
Habashi, J.2
Carrel, T.3
Cameron, D.E.4
Van Eyk, J.E.5
Dietz, H.C.6
|