-
1
-
-
0040920369
-
-
OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: #130010/130020. Date last edited: December 3
-
Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: #130010/130020. Date last edited: December 3, 2003. Available at: http://www.ncbi.nlm.nih.gov/omim/.
-
(2003)
Online Mendelian Inheritance in Man
-
-
-
2
-
-
0000210215
-
Ehlers-Danlos syndromes
-
L. Goldman J.C. Bennett 21st ed. WB Saunders Philadelphia
-
R.E. Pyeritz Ehlers-Danlos syndromes L. Goldman J.C. Bennett 21st ed. Cecil textbook of medicine Vol I 2000 WB Saunders Philadelphia 1119 1120
-
(2000)
Cecil Textbook of Medicine
, vol.1
, pp. 1119-1120
-
-
Pyeritz, R.E.1
-
3
-
-
0032574641
-
Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997
-
P. Beighton, A. De Paepe, B. Steinmann, P. Tsipouras, and R.J. Wenstrup Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997 Am J Med Genet 77 1998 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
-
4
-
-
0031594259
-
Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I
-
K. Michalickova, M. Susic, M.C. Willing, R.J. Wenstrup, and W.G. Cole Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I Hum Mol Genet 7 1998 249 255
-
(1998)
Hum Mol Genet
, vol.7
, pp. 249-255
-
-
Michalickova, K.1
Susic, M.2
Willing, M.C.3
Wenstrup, R.J.4
Cole, W.G.5
-
5
-
-
0036724443
-
Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I
-
K. Takahara, U. Schwarze, Y. Imamura, G.G. Hoffman, H. Toriello, and L.T. Smith Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I Am J Hum Genet 71 2002 451 465
-
(2002)
Am J Hum Genet
, vol.71
, pp. 451-465
-
-
Takahara, K.1
Schwarze, U.2
Imamura, Y.3
Hoffman, G.G.4
Toriello, H.5
Smith, L.T.6
-
6
-
-
0343812439
-
Ehlers-Danlos syndromes
-
J.R. Gorlin M.M. Cohen Jr. L.S. Levin 3rd ed. Oxford University Press Oxford
-
J.R. Gorlin, M.M. Cohen Jr., and L.S. Levin Ehlers-Danlos syndromes J.R. Gorlin M.M. Cohen Jr. L.S. Levin 3rd ed. Syndromes of the head and neck 1990 Oxford University Press Oxford 417 441
-
(1990)
Syndromes of the Head and Neck
, pp. 417-441
-
-
Gorlin, J.R.1
Cohen Jr., M.M.2
Levin, L.S.3
-
7
-
-
0033497446
-
Ehlers-Danlos syndrome
-
P.C. Rowe, D.F. Barron, H. Calkins, I.H. Maumenee, P.Y. Tong, and M.T. Geraghty Ehlers-Danlos syndrome J Pediatr 135 1999 513
-
(1999)
J Pediatr
, vol.135
, pp. 513
-
-
Rowe, P.C.1
Barron, D.F.2
Calkins, H.3
Maumenee, I.H.4
Tong, P.Y.5
Geraghty, M.T.6
-
9
-
-
0035849295
-
Absence of the inferior labial and lingual frenula in Ehlers-Danlos syndrome
-
C. De Felice, P. Toti, G. Di Maggio, S. Parrini, and F. Bagnoli Absence of the inferior labial and lingual frenula in Ehlers-Danlos syndrome Lancet 357 2001 1500 1502
-
(2001)
Lancet
, vol.357
, pp. 1500-1502
-
-
De Felice, C.1
Toti, P.2
Di Maggio, G.3
Parrini, S.4
Bagnoli, F.5
-
10
-
-
1542299091
-
Abnormal oral mucosal light reflectance: A new clinical sign of Ehlers-Danlos syndrome
-
S. Parrini, A. Bellosi, A. Barducci, G. Bianciardi, G. Latini, and C. De Felice Abnormal oral mucosal light reflectance: a new clinical sign of Ehlers-Danlos syndrome Oral Surg Oral Med Oral Pathol Oral Radiol Endod 97 2004 335 338
-
(2004)
Oral Surg Oral Med Oral Pathol Oral Radiol Endod
, vol.97
, pp. 335-338
-
-
Parrini, S.1
Bellosi, A.2
Barducci, A.3
Bianciardi, G.4
Latini, G.5
De Felice, C.6
-
11
-
-
0018417480
-
Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome
-
A. Vogel, K.A. Holbrook, B. Steinmann, R. Gitzelmann, and P.H. Byers Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome Lab Invest 40 1979 201 206
-
(1979)
Lab Invest
, vol.40
, pp. 201-206
-
-
Vogel, A.1
Holbrook, K.A.2
Steinmann, B.3
Gitzelmann, R.4
Byers, P.H.5
-
12
-
-
0019964535
-
Structural abnormalities in the dermal collagen and elastic matrix from the skin of patients with inherited connective tissue disorders
-
K.A. Holbrook, and P.H. Byers Structural abnormalities in the dermal collagen and elastic matrix from the skin of patients with inherited connective tissue disorders J Invest Dermatol 79 Suppl 1 1982 7s 16s
-
(1982)
J Invest Dermatol
, vol.79
, Issue.1
-
-
Holbrook, K.A.1
Byers, P.H.2
-
13
-
-
0029051066
-
Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders
-
T. Aoyama, U. Francke, C. Gasner, and H. Furthmayr Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders Am J Med Genet 58 1995 169 176
-
(1995)
Am J Med Genet
, vol.58
, pp. 169-176
-
-
Aoyama, T.1
Francke, U.2
Gasner, C.3
Furthmayr, H.4
-
14
-
-
0030453694
-
Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen
-
J. McGrory, R. Weksberg, P. Thorner, and W.G. Cole Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen Clin Genet 50 1996 442 445
-
(1996)
Clin Genet
, vol.50
, pp. 442-445
-
-
McGrory, J.1
Weksberg, R.2
Thorner, P.3
Cole, W.G.4
-
15
-
-
0019424009
-
Supracellular structural principle and geometry of blood vessels
-
N. Suwa Supracellular structural principle and geometry of blood vessels Virchows Arch A 390 1981 161 179
-
(1981)
Virchows Arch a
, vol.390
, pp. 161-179
-
-
Suwa, N.1
-
16
-
-
0024315634
-
Mechanochemical switching between growth and differentiation during fibroblast growth factor-stimulated angiogenesis in vitro: Role of extracellular matrix
-
D.E. Ingber, and J. Folkman Mechanochemical switching between growth and differentiation during fibroblast growth factor-stimulated angiogenesis in vitro: role of extracellular matrix J Cell Biol 109 1984 317 330
-
(1984)
J Cell Biol
, vol.109
, pp. 317-330
-
-
Ingber, D.E.1
Folkman, J.2
-
17
-
-
0042377388
-
A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar
-
A. Abdul Wahab, I.A. Janahi, A. Eltohami, A. Zeid, N.F. Ul Haque, and A.S. Teebi A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar Acta Paediatr 92 2003 456 462
-
(2003)
Acta Paediatr
, vol.92
, pp. 456-462
-
-
Abdul Wahab, A.1
Janahi, I.A.2
Eltohami, A.3
Zeid, A.4
Ul Haque, N.F.5
Teebi, A.S.6
-
18
-
-
4043176592
-
Oral vascular network abnormalities and achondroplasia
-
C. De Felice, G. Bianciardi, S. Parrini, G. Di Maggio, R.N. Laurini, and G. Latini Oral vascular network abnormalities and achondroplasia Pediatr Res 54 2003 560
-
(2003)
Pediatr Res
, vol.54
, pp. 560
-
-
De Felice, C.1
Bianciardi, G.2
Parrini, S.3
Di Maggio, G.4
Laurini, R.N.5
Latini, G.6
-
19
-
-
4043102976
-
A new clinical sign in Down syndrome patients and their unaffected parents
-
G. Latini, G. Bianciardi, S. Parrini, R.N. Laurini, and C. De Felice A new clinical sign in Down syndrome patients and their unaffected parents Pediatr Res 54 2003 562
-
(2003)
Pediatr Res
, vol.54
, pp. 562
-
-
Latini, G.1
Bianciardi, G.2
Parrini, S.3
Laurini, R.N.4
De Felice, C.5
-
20
-
-
5144233406
-
Oral vascular network geometry in infantile hypertrophyc pyloric stenosis
-
C. De Felice, G. Bianciardi, S. Parrini, R.N. Laurini, G. Di Maggio, and G. Latini Oral vascular network geometry in infantile hypertrophyc pyloric stenosis Pediatr Res 54 2003 604
-
(2003)
Pediatr Res
, vol.54
, pp. 604
-
-
De Felice, C.1
Bianciardi, G.2
Parrini, S.3
Laurini, R.N.4
Di Maggio, G.5
Latini, G.6
-
21
-
-
0344005435
-
Abnormal vascular network complexity: A new phenotypical marker in hereditary nonpolyposis colorectal cancer syndrome
-
C. De Felice, G. Latini, G. Bianciardi, S. Parrini, G.M. Fadda, and M. Marini Abnormal vascular network complexity: a new phenotypical marker in hereditary nonpolyposis colorectal cancer syndrome Gut 12 2003 1764 1767
-
(2003)
Gut
, vol.12
, pp. 1764-1767
-
-
De Felice, C.1
Latini, G.2
Bianciardi, G.3
Parrini, S.4
Fadda, G.M.5
Marini, M.6
-
22
-
-
0000573040
-
Fractal dimension of lymphocytic nuclear membrane in mycosis fungoides and chronic dermatitis
-
G.A. Losa D. Merlini T.F. Nonnenmacher E.R. Weibel Birkhauser Verlag Basel
-
G. Bianciardi, C. Miracco, M.M. De Santi, A. Perrone, A. Bruni, and P. Luzi Fractal dimension of lymphocytic nuclear membrane in mycosis fungoides and chronic dermatitis G.A. Losa D. Merlini T.F. Nonnenmacher E.R. Weibel Fractals in biology and medicine Vol. II 1988 Birkhauser Verlag Basel 231 237
-
(1988)
Fractals in Biology and Medicine
, vol.2
, pp. 231-237
-
-
Bianciardi, G.1
Miracco, C.2
De Santi, M.M.3
Perrone, A.4
Bruni, A.5
Luzi, P.6
-
24
-
-
0003158181
-
Multivariate characterization of blood vessel morphogenesis in the avian chorioallantoic membrane (CAM): Cell proliferation, length density and fractal dimension
-
T.F. Nonnenmacher G.A. Losa E.R. Weibel Birkhauser Verlag Basel
-
H. Kurz, J. Wilting, and B. Christ Multivariate characterization of blood vessel morphogenesis in the avian chorioallantoic membrane (CAM): cell proliferation, length density and fractal dimension T.F. Nonnenmacher G.A. Losa E.R. Weibel Fractals in biology and medicine 1994 Birkhauser Verlag Basel 132 140
-
(1994)
Fractals in Biology and Medicine
, pp. 132-140
-
-
Kurz, H.1
Wilting, J.2
Christ, B.3
-
25
-
-
0001374917
-
The fractal dimension of the minimum path in two- and three-dimensional percolation
-
H.J. Herrmann, and H.E. Stanley The fractal dimension of the minimum path in two- and three-dimensional percolation J Phys A: Math Gen 21 1988 L829 L833
-
(1988)
J Phys A: Math Gen
, vol.21
-
-
Herrmann, H.J.1
Stanley, H.E.2
-
26
-
-
0017493286
-
A universal algorithm for sequential data compression
-
J. Ziv, and A. Lempel A universal algorithm for sequential data compression IEEE Trans Inform Th IT-23 1977 337 349
-
(1977)
IEEE Trans Inform Th
, vol.23
, pp. 337-349
-
-
Ziv, J.1
Lempel, A.2
-
27
-
-
35949011257
-
An easily calculable measure for the complexity of spatio-temporal patterns
-
F. Kaspar, and H.G. Schuster An easily calculable measure for the complexity of spatio-temporal patterns Phys Rev A 36 1987 842 848
-
(1987)
Phys Rev a
, vol.36
, pp. 842-848
-
-
Kaspar, F.1
Schuster, H.G.2
-
28
-
-
0013855596
-
Ehlers-Danlos syndrome and "congenital" arteriovenous fistulae. a clinicopathologic study of a family
-
H.T. Lynch, A.L. Larsen, R. Wilson, and C.L. Magnuson Ehlers-Danlos syndrome and "congenital" arteriovenous fistulae. A clinicopathologic study of a family JAMA 194 1965 1011 1014
-
(1965)
JAMA
, vol.194
, pp. 1011-1014
-
-
Lynch, H.T.1
Larsen, A.L.2
Wilson, R.3
Magnuson, C.L.4
-
29
-
-
0020059304
-
Vascular manifestations in patients with Ehlers-Danlos syndrome
-
G.C. Hunter, J.M. Malone, W.S. Moore, R.L. Misiorowski, and M. Chvapil Vascular manifestations in patients with Ehlers-Danlos syndrome Arch Surg 117 1982 495 498
-
(1982)
Arch Surg
, vol.117
, pp. 495-498
-
-
Hunter, G.C.1
Malone, J.M.2
Moore, W.S.3
Misiorowski, R.L.4
Chvapil, M.5
-
31
-
-
0025985181
-
Vascular collagen fibril morphology in type IV Ehlers-Danlos syndrome
-
M.A. Crowther, B. Lach, P.J. Dunmore, and M.R. Roach Vascular collagen fibril morphology in type IV Ehlers-Danlos syndrome Connect Tissue Res 25 1991 209 217
-
(1991)
Connect Tissue Res
, vol.25
, pp. 209-217
-
-
Crowther, M.A.1
Lach, B.2
Dunmore, P.J.3
Roach, M.R.4
-
32
-
-
0028116085
-
Vascular complications in Ehlers-Danlos syndrome
-
S.G. Mattar, A.G. Kumar, and A.B. Lumsden Vascular complications in Ehlers-Danlos syndrome Am Surg 60 1994 827 831
-
(1994)
Am Surg
, vol.60
, pp. 827-831
-
-
Mattar, S.G.1
Kumar, A.G.2
Lumsden, A.B.3
-
33
-
-
0029920379
-
Fatal vascular catastrophe in Ehlers-Danlos syndrome: A case report and review
-
P.J. Wimmer, D.S. Howes, D.P. Rumoro, and M. Carbone Fatal vascular catastrophe in Ehlers-Danlos syndrome: a case report and review J Emerg Med 14 1996 25 31
-
(1996)
J Emerg Med
, vol.14
, pp. 25-31
-
-
Wimmer, P.J.1
Howes, D.S.2
Rumoro, D.P.3
Carbone, M.4
-
34
-
-
0034057706
-
Rupture of the abdominal aorta in patients with Ehlers-Danlos syndrome
-
C.D. Karkos, V. Prasad, U. Mukhopadhyay, G.J. Thomson, and A.R. Hearn Rupture of the abdominal aorta in patients with Ehlers-Danlos syndrome Ann Vasc Surg 14 2000 274 277
-
(2000)
Ann Vasc Surg
, vol.14
, pp. 274-277
-
-
Karkos, C.D.1
Prasad, V.2
Mukhopadhyay, U.3
Thomson, G.J.4
Hearn, A.R.5
-
35
-
-
0034061139
-
Remote vascular catastrophes after neurovascular interventional therapy for type 4 Ehlers-Danlos Syndrome
-
M.B. Horowitz, P.D. Purdy, R.J. Valentine, and K. Morrill Remote vascular catastrophes after neurovascular interventional therapy for type 4 Ehlers-Danlos Syndrome Am J Neuroradiol 21 2000 974 976
-
(2000)
Am J Neuroradiol
, vol.21
, pp. 974-976
-
-
Horowitz, M.B.1
Purdy, P.D.2
Valentine, R.J.3
Morrill, K.4
-
37
-
-
0036314742
-
Clinical and genetic features of vascular Ehlers-Danlos syndrome
-
D.P. Germain Clinical and genetic features of vascular Ehlers-Danlos syndrome Ann Vasc Surg 16 2002 391 397
-
(2002)
Ann Vasc Surg
, vol.16
, pp. 391-397
-
-
Germain, D.P.1
-
39
-
-
0036327690
-
Ehlers-Danlos syndrome type IV and a novel mutation of the type III procollagen gene as a cause of abdominal apoplexy
-
I. Hassan, T.E. Rasmussen, U. Schwarze, P.S. Rose, D.A. Whiteman, and P. Gloviczki Ehlers-Danlos syndrome type IV and a novel mutation of the type III procollagen gene as a cause of abdominal apoplexy Mayo Clin Proc 77 2002 861 863
-
(2002)
Mayo Clin Proc
, vol.77
, pp. 861-863
-
-
Hassan, I.1
Rasmussen, T.E.2
Schwarze, U.3
Rose, P.S.4
Whiteman, D.A.5
Gloviczki, P.6
-
40
-
-
0036765537
-
Intracranial aneurysm surgery in Ehlers-Danlos syndrome Type IV
-
W.I. Schievink, M.J. Link, D.G. Piepgras, and R.F. Spetzler Intracranial aneurysm surgery in Ehlers-Danlos syndrome Type IV Neurosurgery 51 2002 607 611 discussion 611-3
-
(2002)
Neurosurgery
, vol.51
, pp. 607-611
-
-
Schievink, W.I.1
Link, M.J.2
Piepgras, D.G.3
Spetzler, R.F.4
-
42
-
-
0037174638
-
Systems biology. Life's complexity pyramid
-
Z.N. Oltvai, and A.L. Barabasi Systems biology. Life's complexity pyramid Science 298 2002 763 764
-
(2002)
Science
, vol.298
, pp. 763-764
-
-
Oltvai, Z.N.1
Barabasi, A.L.2
-
44
-
-
0035689009
-
Fractal geometric analysis of lung cancer angiogenic patterns
-
E. Oczeretko, M. Juczewska, and I. Kasacka Fractal geometric analysis of lung cancer angiogenic patterns Folia Histochem Cytobiol 39 Suppl 2 2001 75 76
-
(2001)
Folia Histochem Cytobiol
, vol.39
, Issue.2
, pp. 75-76
-
-
Oczeretko, E.1
Juczewska, M.2
Kasacka, I.3
-
45
-
-
0023298901
-
Fractals: A new look at biological shape and patterning
-
A.A. Tsonis, and P.A. Tsonis Fractals: a new look at biological shape and patterning Perspect Biol Med 30 1987 355 361
-
(1987)
Perspect Biol Med
, vol.30
, pp. 355-361
-
-
Tsonis, A.A.1
Tsonis, P.A.2
-
46
-
-
0028911581
-
Corneal vascularization and its relation to the physical properties of the tissue: A fractal analysis
-
A. Daxer, and A. Ettl Corneal vascularization and its relation to the physical properties of the tissue: a fractal analysis Curr Eye Res 4 1995 263 268
-
(1995)
Curr Eye Res
, vol.4
, pp. 263-268
-
-
Daxer, A.1
Ettl, A.2
-
47
-
-
0027761737
-
The fractal geometry of proliferative diabetic retinopathy: Implications for the diagnosis and the process of retinal vasculogenesis
-
A. Daxer The fractal geometry of proliferative diabetic retinopathy: implications for the diagnosis and the process of retinal vasculogenesis Curr Eye Res 2 1993 1103 1109
-
(1993)
Curr Eye Res
, vol.2
, pp. 1103-1109
-
-
Daxer, A.1
-
48
-
-
0001489531
-
Scale-invariant behavior and vascular network formation in normal and tumor tissue
-
Y. Gazit, D.A. Berk, M. Leunig, L.T. Baxter, and R.K. Jain Scale-invariant behavior and vascular network formation in normal and tumor tissue Phys Rev Lett 75 1995 2428-31
-
(1995)
Phys Rev Lett
, vol.75
-
-
Gazit, Y.1
Berk, D.A.2
Leunig, M.3
Baxter, L.T.4
Jain, R.K.5
-
49
-
-
0344234250
-
Diagnosing Lynch syndrome: Is the answer in the mouth?
-
H.K. Roy, and H.T. Lynch Diagnosing Lynch syndrome: Is the answer in the mouth? Gut 12 2003 1665 1667
-
(2003)
Gut
, vol.12
, pp. 1665-1667
-
-
Roy, H.K.1
Lynch, H.T.2
|