-
1
-
-
0030935510
-
Macrocephaly-cutis marmorata telangiectatica congenita: A distinct disorder with developmental delay and connective tissue abnormalities
-
C.A. Moore, H.V. Toriello, D.N. Abuelo, M.J. Bull, C.J. Curry, and B.D. Hall Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities Am J Med Genet 70 1997 67 73
-
(1997)
Am J Med Genet
, vol.70
, pp. 67-73
-
-
Moore, C.A.1
Toriello, H.V.2
Abuelo, D.N.3
Bull, M.J.4
Curry, C.J.5
Hall, B.D.6
-
2
-
-
37249063121
-
Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM)
-
H.V. Toriello, and J.B. Mulliken Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM) Am J Med Genet A 143A 2007 3009
-
(2007)
Am J Med Genet A
, vol.143 A
, pp. 3009
-
-
Toriello, H.V.1
Mulliken, J.B.2
-
3
-
-
62649158933
-
The misnomer "macrocephaly-cutis marmorata telangiectatica congenita syndrome": Report of 12 new cases and support for revising the name to macrocephaly-capillary malformations
-
D.R. Wright, I.J. Frieden, S.J. Orlow, H.T. Shin, S. Chamlin, and J.V. Schaffer The misnomer "macrocephaly-cutis marmorata telangiectatica congenita syndrome": report of 12 new cases and support for revising the name to macrocephaly-capillary malformations Arch Dermatol 145 2009 287 293
-
(2009)
Arch Dermatol
, vol.145
, pp. 287-293
-
-
Wright, D.R.1
Frieden, I.J.2
Orlow, S.J.3
Shin, H.T.4
Chamlin, S.5
Schaffer, J.V.6
-
4
-
-
38549166199
-
Klippel-Trenaunay syndrome: Diagnostic criteria and hypothesis on etiology
-
C.E. Oduber, C.M. van der Horst, and R.C. Hennekam Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology Ann Plast Surg 60 2008 217 223
-
(2008)
Ann Plast Surg
, vol.60
, pp. 217-223
-
-
Oduber, C.E.1
Van Der Horst, C.M.2
Hennekam, R.C.3
-
5
-
-
0023882897
-
The validity and practicality of sun-reactive skin types i through IV
-
T.B. Fitzpatrick The validity and practicality of sun-reactive skin types I through IV Arch Dermatol 124 1988 869 871
-
(1988)
Arch Dermatol
, vol.124
, pp. 869-871
-
-
Fitzpatrick, T.B.1
-
6
-
-
4444327828
-
Klippel-Trenaunay syndrome: The importance of "geographic stains" in identifying lymphatic disease and risk of complications
-
C. Maari, and I.J. Frieden Klippel-Trenaunay syndrome: the importance of "geographic stains" in identifying lymphatic disease and risk of complications J Am Acad Dermatol 51 2004 391 398
-
(2004)
J Am Acad Dermatol
, vol.51
, pp. 391-398
-
-
Maari, C.1
Frieden, I.J.2
-
7
-
-
55949088068
-
What is a capillary malformation?
-
R. Happle What is a capillary malformation? J Am Acad Dermatol 59 2008 1077 1079
-
(2008)
J Am Acad Dermatol
, vol.59
, pp. 1077-1079
-
-
Happle, R.1
-
9
-
-
8644232722
-
Vascular anomalies and the growth of limbs: A review
-
O. Enjolras, R. Chapot, and J.J. Merland Vascular anomalies and the growth of limbs: a review J Pediatr Orthop B 13 2004 349 357
-
(2004)
J Pediatr Orthop B
, vol.13
, pp. 349-357
-
-
Enjolras, O.1
Chapot, R.2
Merland, J.J.3
-
10
-
-
80054124034
-
Diagnosis and management of extensive vascular malformations of the lower limb, part I: Clinical diagnosis
-
P. Redondo, L. Aguado, and A. Martínez-Cuesta Diagnosis and management of extensive vascular malformations of the lower limb, part I: clinical diagnosis J Am Acad Dermatol 65 2011 893 906
-
(2011)
J Am Acad Dermatol
, vol.65
, pp. 893-906
-
-
Redondo, P.1
Aguado, L.2
Martínez-Cuesta, A.3
-
11
-
-
1842582464
-
Macrocephaly-cutis marmorata telangiectatica congenita: Seven cases including two with unusual cerebral manifestations
-
F. Giuliano, A. David, P. Edery, S. Sigaudy, D. Bonneau, and V. Cormier-Daire Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations Am J Med Genet A 126 2004 99 103
-
(2004)
Am J Med Genet A
, vol.126
, pp. 99-103
-
-
Giuliano, F.1
David, A.2
Edery, P.3
Sigaudy, S.4
Bonneau, D.5
Cormier-Daire, V.6
-
12
-
-
37249078686
-
Neuroimaging findings in macrocephaly-capillary malformation: A longitudinal study of 17 patients
-
R.L. Conway, B.D. Pressman, W.B. Dobyns, M. Danielpour, J. Lee, and P.A. Sanchez-Lara Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients Am J Med Genet A 143 2007 2981 3008
-
(2007)
Am J Med Genet A
, vol.143
, pp. 2981-3008
-
-
Conway, R.L.1
Pressman, B.D.2
Dobyns, W.B.3
Danielpour, M.4
Lee, J.5
Sanchez-Lara, P.A.6
-
13
-
-
78649643353
-
Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria
-
V. Martínez-Glez, V. Romanelli, M.A. Mori, R. Gracia, M. Segovia, and A. González-Meneses Macrocephaly-capillary malformation: analysis of 13 patients and review of the diagnostic criteria Am J Med Genet A 152A 2010 3101 3106
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 3101-3106
-
-
Martínez-Glez, V.1
Romanelli, V.2
Mori, M.A.3
Gracia, R.4
Segovia, M.5
González-Meneses, A.6
-
14
-
-
0033849079
-
Cutis marmorata telangiectatica congenita: Clinical findings in 85 patients
-
D.B. Amitai, S. Fichman, P. Merlob, Y. Morad, M. Lapidoth, and A. Metzker Cutis marmorata telangiectatica congenita: clinical findings in 85 patients Pediatr Dermatol 17 2000 100 104
-
(2000)
Pediatr Dermatol
, vol.17
, pp. 100-104
-
-
Amitai, D.B.1
Fichman, S.2
Merlob, P.3
Morad, Y.4
Lapidoth, M.5
Metzker, A.6
-
15
-
-
37249043737
-
Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients
-
J.C. Sapp, J.T. Turner, J.M. van de Kamp, F.S. van Dijk, R.B. Lowry, and L.G. Biesecker Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients Am J Med Genet A 143 2007 2944 2958
-
(2007)
Am J Med Genet A
, vol.143
, pp. 2944-2958
-
-
Sapp, J.C.1
Turner, J.T.2
Van De Kamp, J.M.3
Van Dijk, F.S.4
Lowry, R.B.5
Biesecker, L.G.6
-
16
-
-
58149242646
-
Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: A descriptive study of 18 cases of CLOVES syndrome
-
A.I. Alomari Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome Clin Dysmorphol 18 2009 1 7
-
(2009)
Clin Dysmorphol
, vol.18
, pp. 1-7
-
-
Alomari, A.I.1
-
17
-
-
0004197734
-
Overgrowth syndromes
-
A.G. Motulsky, M. Bobrow, P.S. Harper, C. Scriver, J.A. Fraser Roberts, C.O. Carter, Oxford University Press New York
-
M.M. Cohen, G. Neri, and R. Weksberg Overgrowth syndromes A.G. Motulsky, M. Bobrow, P.S. Harper, C. Scriver, J.A. Fraser Roberts, C.O. Carter, Oxford monographs on medical genetics. No. 43 2002 Oxford University Press New York 75 110
-
(2002)
Oxford Monographs on Medical Genetics. No. 43
, pp. 75-110
-
-
Cohen, M.M.1
Neri, G.2
Weksberg, R.3
-
18
-
-
0014152428
-
Wilms' tumor and congenital hemihypertrophy: Report of five new cases and review of literature
-
J.F. Fraumeni Jr., C.F. Geiser, and M.D. Manning Wilms' tumor and congenital hemihypertrophy: report of five new cases and review of literature Pediatrics 40 1967 886 899
-
(1967)
Pediatrics
, vol.40
, pp. 886-899
-
-
Fraumeni, Jr.J.F.1
Geiser, C.F.2
Manning, M.D.3
-
19
-
-
0032475876
-
Isolated hemihyperplasia (hemihypertrophy): Report of prospective multicenter study of the incidence of neoplasia and review
-
H.E. Hoyme, L.H. Seaver, and K.L. Jones Isolated hemihyperplasia (hemihypertrophy): report of prospective multicenter study of the incidence of neoplasia and review Am J Med Genet 79 1998 274 278
-
(1998)
Am J Med Genet
, vol.79
, pp. 274-278
-
-
Hoyme, H.E.1
Seaver, L.H.2
Jones, K.L.3
-
20
-
-
23444462050
-
Risk of tumorigenesis in overgrowth syndromes: A comprehensive review
-
P. Lapunzina Risk of tumorigenesis in overgrowth syndromes: a comprehensive review Am J Med Genet C Semin Med Genet 137 2005 53 71
-
(2005)
Am J Med Genet C Semin Med Genet
, vol.137
, pp. 53-71
-
-
Lapunzina, P.1
-
21
-
-
0038648607
-
Presence of vascular anomalies with congenital hemihypertrophy and Wilms tumor: An evidence-based evaluation
-
R.V. Kundu, and I.J. Frieden Presence of vascular anomalies with congenital hemihypertrophy and Wilms tumor: an evidence-based evaluation Pediatr Dermatol 20 2003 199 206
-
(2003)
Pediatr Dermatol
, vol.20
, pp. 199-206
-
-
Kundu, R.V.1
Frieden, I.J.2
-
22
-
-
2342613524
-
Wilms tumor screening is unnecessary in Klippel-Trenaunay syndrome
-
A.K. Greene, M. Kieran, P.E. Burrows, J.B. Mulliken, J. Kasser, and S.J. Fishman Wilms tumor screening is unnecessary in Klippel-Trenaunay syndrome Pediatrics 113 2004 e326 e329
-
(2004)
Pediatrics
, vol.113
-
-
Greene, A.K.1
Kieran, M.2
Burrows, P.E.3
Mulliken, J.B.4
Kasser, J.5
Fishman, S.J.6
-
23
-
-
84862129718
-
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome
-
K.C. Kurek, V.L. Luks, U.M. Ayturk, A.I. Alomari, S.J. Fishman, and S.A. Spencer Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome Am J Hum Genet 90 2012 1108 1115
-
(2012)
Am J Hum Genet
, vol.90
, pp. 1108-1115
-
-
Kurek, K.C.1
Luks, V.L.2
Ayturk, U.M.3
Alomari, A.I.4
Fishman, S.J.5
Spencer, S.A.6
-
24
-
-
84864400015
-
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
-
J.B. Rivière, G.M. Mirzaa, B.J. O'Roak, M. Beddaoui, D. Alcantara, and R.L. Conway De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes Nat Genet 44 2012 934 940
-
(2012)
Nat Genet
, vol.44
, pp. 934-940
-
-
Rivière, J.B.1
Mirzaa, G.M.2
O'Roak, B.J.3
Beddaoui, M.4
Alcantara, D.5
Conway, R.L.6
-
25
-
-
84860389181
-
A mosaic activating mutation in AKT1 associated with the Proteus syndrome
-
M.J. Lindhurst, J.C. Sapp, J.K. Teer, J.J. Johnston, E.M. Finn, and K. Peters A mosaic activating mutation in AKT1 associated with the Proteus syndrome N Engl J Med 365 2011 611 619
-
(2011)
N Engl J Med
, vol.365
, pp. 611-619
-
-
Lindhurst, M.J.1
Sapp, J.C.2
Teer, J.K.3
Johnston, J.J.4
Finn, E.M.5
Peters, K.6
-
26
-
-
0023319298
-
Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin
-
R. Happle Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin J Am Acad Dermatol 16 1987 899 906
-
(1987)
J Am Acad Dermatol
, vol.16
, pp. 899-906
-
-
Happle, R.1
|