-
1
-
-
19444387096
-
RASA1: Variable phenotype with capillary and arteriovenous malformations
-
Boon LM, Mulliken JB, Vikkula M (2005) RASA1: Variable phenotype with capillary and arteriovenous malformations. Curr Opin Genet Dev 15(3): 265-269.
-
(2005)
Curr Opin Genet Dev
, vol.15
, Issue.3
, pp. 265-269
-
-
Boon, L.M.1
Mulliken, J.B.2
Vikkula, M.3
-
2
-
-
0347362524
-
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations
-
Eerola I, et al. (2003) Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet 73(6): 1240-1249.
-
(2003)
Am J Hum Genet
, vol.73
, Issue.6
, pp. 1240-1249
-
-
Eerola, I.1
-
3
-
-
42049117619
-
RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations
-
Hershkovitz D, Bercovich D, Sprecher E, Lapidot M (2008) RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations. Br J Dermatol 158(5): 1035-1040.
-
(2008)
Br J Dermatol
, vol.158
, Issue.5
, pp. 1035-1040
-
-
Hershkovitz, D.1
Bercovich, D.2
Sprecher, E.3
Lapidot, M.4
-
4
-
-
48449100555
-
A novel mutation in RASA1 causes capillary malformation and limb enlargement
-
Hershkovitz D, Bergman R, Sprecher E (2008) A novel mutation in RASA1 causes capillary malformation and limb enlargement. Arch Dermatol Res 300(7): 385-388.
-
(2008)
Arch Dermatol Res
, vol.300
, Issue.7
, pp. 385-388
-
-
Hershkovitz, D.1
Bergman, R.2
Sprecher, E.3
-
5
-
-
46749101035
-
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations
-
Revencu N, et al. (2008) Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat 29(7): 959-965.
-
(2008)
Hum Mutat
, vol.29
, Issue.7
, pp. 959-965
-
-
Revencu, N.1
-
6
-
-
84871003778
-
CM-AVM syndrome in a neonate: Case report and treatment with a novel flow reduction strategy
-
Behr GG, et al. (2012) CM-AVM syndrome in a neonate: Case report and treatment with a novel flow reduction strategy. Vasc Cell 4(1):19.
-
(2012)
Vasc Cell
, vol.4
, Issue.1
, pp. 19
-
-
Behr, G.G.1
-
7
-
-
84858866422
-
Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene
-
de Wijn RS, et al. (2012) Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene. Eur J Med Genet 55(3): 191-195.
-
(2012)
Eur J Med Genet
, vol.55
, Issue.3
, pp. 191-195
-
-
De Wijn, R.S.1
-
8
-
-
84856540111
-
RASA1 maintains the lymphatic vasculature in a quiescent functional state in mice
-
Lapinski PE, et al. (2012) RASA1 maintains the lymphatic vasculature in a quiescent functional state in mice. J Clin Invest 122(2): 733-747.
-
(2012)
J Clin Invest
, vol.122
, Issue.2
, pp. 733-747
-
-
Lapinski, P.E.1
-
9
-
-
79960383887
-
A role for p120 RasGAP in thymocyte positive selection and survival of naive T cells
-
Lapinski PE, Qiao Y, Chang CH, King PD (2011) A role for p120 RasGAP in thymocyte positive selection and survival of naive T cells. J Immunol 187(1): 151-163.
-
(2011)
J Immunol
, vol.187
, Issue.1
, pp. 151-163
-
-
Lapinski, P.E.1
Qiao, Y.2
Chang, C.H.3
King, P.D.4
-
10
-
-
38149011588
-
Noninvasive quantitative imaging of lymph function in mice
-
Kwon S, Sevick-Muraca EM (2007) Noninvasive quantitative imaging of lymph function in mice. Lymphat Res Biol 5(4): 219-231.
-
(2007)
Lymphat Res Biol
, vol.5
, Issue.4
, pp. 219-231
-
-
Kwon, S.1
Sevick-Muraca, E.M.2
-
11
-
-
65449147591
-
Lymphatic imaging in humans with near-infrared fluorescence
-
Rasmussen JC, Tan IC, Marshall MV, Fife CE, Sevick-Muraca EM (2009) Lymphatic imaging in humans with near-infrared fluorescence. Curr Opin Biotechnol 20(1): 74-82.
-
(2009)
Curr Opin Biotechnol
, vol.20
, Issue.1
, pp. 74-82
-
-
Rasmussen, J.C.1
Tan, I.C.2
Marshall, M.V.3
Fife, C.E.4
Sevick-Muraca, E.M.5
-
12
-
-
34447528871
-
Quantitative imaging of lymph function
-
Sharma R, et al. (2007) Quantitative imaging of lymph function. Am J Physiol Heart Circ Physiol 292(6):H3109-H3118.
-
(2007)
Am J Physiol Heart Circ Physiol
, vol.292
, Issue.6
-
-
Sharma, R.1
-
13
-
-
79955562398
-
Assessment of lymphatic contractile function after manual lymphatic drainage using near-infrared fluorescence imaging
-
Tan IC, et al. (2011) Assessment of lymphatic contractile function after manual lymphatic drainage using near-infrared fluorescence imaging. Arch Phys Med Rehabil 92(5):756.e1-764.e1.
-
(2011)
Arch Phys Med Rehabil
, vol.92
, Issue.5
-
-
Tan, I.C.1
-
14
-
-
38549151767
-
Generation of mice with a conditional allele of the p120 Ras GTPase-activating protein
-
Lapinski PE, et al. (2007) Generation of mice with a conditional allele of the p120 Ras GTPase-activating protein. Genesis 45(12): 762-767.
-
(2007)
Genesis
, vol.45
, Issue.12
, pp. 762-767
-
-
Lapinski, P.E.1
-
15
-
-
81255188905
-
The lymphatic vasculature in disease
-
Alitalo K (2011) The lymphatic vasculature in disease. Nat Med 17(11): 1371-1380.
-
(2011)
Nat Med
, vol.17
, Issue.11
, pp. 1371-1380
-
-
Alitalo, K.1
-
16
-
-
84875158202
-
Nonredundant functions for Ras GTPaseactivating proteins in tissue homeostasis
-
King PD, Lubeck BA, Lapinski PE (2013) Nonredundant functions for Ras GTPaseactivating proteins in tissue homeostasis. Sci Signal 6(264):re1.
-
(2013)
Sci Signal
, vol.6
, Issue.264
-
-
King, P.D.1
Lubeck, B.A.2
Lapinski, P.E.3
-
17
-
-
77950346287
-
H-, N and Kras cooperatively regulate lymphatic vessel growth by modulating VEGFR3 expression in lymphatic endothelial cells in mice
-
Ichise T, Yoshida N, Ichise H (2010) H-, N- and Kras cooperatively regulate lymphatic vessel growth by modulating VEGFR3 expression in lymphatic endothelial cells in mice. Development 137(6): 1003-1013.
-
(2010)
Development
, vol.137
, Issue.6
, pp. 1003-1013
-
-
Ichise, T.1
Yoshida, N.2
Ichise, H.3
-
18
-
-
84855929967
-
Translation of near-infrared fluorescence imaging technologies: Emerging clinical applications
-
Sevick-Muraca EM (2012) Translation of near-infrared fluorescence imaging technologies: Emerging clinical applications. Annu Rev Med 63: 217-231.
-
(2012)
Annu Rev Med
, vol.63
, pp. 217-231
-
-
Sevick-Muraca, E.M.1
-
19
-
-
40949113163
-
Imaging of lymph flow in breast cancer patients after microdose administration of a near-infrared fluorophore: Feasibility study
-
Sevick-Muraca EM, et al. (2008) Imaging of lymph flow in breast cancer patients after microdose administration of a near-infrared fluorophore: Feasibility study. Radiology 246(3): 734-741.
-
(2008)
Radiology
, vol.246
, Issue.3
, pp. 734-741
-
-
Sevick-Muraca, E.M.1
-
20
-
-
84878142675
-
-
(Illumina, San Diego).
-
Illumina (2011) TruSeq Exome Enrichment Kit. Datasheet: Sequencing (Illumina, San Diego). Available at www.illumina.com/documents/products/ datasheets/datasheet- truseq-exome-enrichment-kit.pdf.
-
(2011)
TruSeq Exome Enrichment Kit. Datasheet: Sequencing
-
-
-
21
-
-
68549104404
-
The Sequence Alignment/Map format and SAMtools
-
1000 Genome Project Data Processing Subgroup
-
Li H, et al.; 1000 Genome Project Data Processing Subgroup (2009) The Sequence Alignment/Map format and SAMtools. Bioinformatics 25(16): 2078-2079.
-
(2009)
Bioinformatics
, vol.25
, Issue.16
, pp. 2078-2079
-
-
Li, H.1
-
22
-
-
77956295988
-
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
-
McKenna A, et al. (2010) The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20(9): 1297-1303.
-
(2010)
Genome Res
, vol.20
, Issue.9
, pp. 1297-1303
-
-
McKenna, A.1
-
23
-
-
84862506964
-
A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; Iso-2; iso-3
-
Cingolani P, et al. (2012) A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly (Austin) 6(2): 80-92.
-
(2012)
Fly (Austin)
, vol.6
, Issue.2
, pp. 80-92
-
-
Cingolani, P.1
-
24
-
-
77956534324
-
ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
-
Wang K, Li M, Hakonarson H (2010) ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38(16):e164.
-
(2010)
Nucleic Acids Res
, vol.38
, Issue.16
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
25
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4(7): 1073-1081.
-
(2009)
Nat Protoc
, vol.4
, Issue.7
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
26
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, et al. (2010) A method and server for predicting damaging missense mutations. Nat Methods 7(4): 248-249.
-
(2010)
Nat Methods
, vol.7
, Issue.4
, pp. 248-249
-
-
Adzhubei, I.A.1
-
27
-
-
77955151784
-
MutationTaster evaluates disease-causing potential of sequence alterations
-
Schwarz JM, Rödelsperger C, Schuelke M, Seelow D (2010) MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 7(8): 575-576.
-
(2010)
Nat Methods
, vol.7
, Issue.8
, pp. 575-576
-
-
Schwarz, J.M.1
Rödelsperger, C.2
Schuelke, M.3
Seelow, D.4
-
28
-
-
78650400912
-
Human lymphatic architecture and dynamic transport imaged using near-infrared fluorescence
-
Rasmussen JC, et al. (2010) Human lymphatic architecture and dynamic transport imaged using near-infrared fluorescence. Transl Oncol 3(6): 362-372.
-
(2010)
Transl Oncol
, vol.3
, Issue.6
, pp. 362-372
-
-
Rasmussen, J.C.1
-
29
-
-
80051678164
-
Non-invasive, dynamic imaging of murine intestinal motility
-
Kwon S, Sevick-Muraca EM (2011) Non-invasive, dynamic imaging of murine intestinal motility. Neurogastroenterol Motil 23(9):881-e344.
-
(2011)
Neurogastroenterol Motil
, vol.23
, Issue.9
-
-
Kwon, S.1
Sevick-Muraca, E.M.2
|