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Refinado por: assunto: Female remover assunto: Medical Sciences remover
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Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies
Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies
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Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies

Southgate, Laura ; Machado, Rajiv D. ; Snape, Katie M. ; Primeau, Martin ; Dafou, Dimitra ; Ruddy, Deborah M. ; Branney, Peter A. ; Fisher, Malcolm ; Lee, Grace J. ; Simpson, Michael A. ; He, Yi ; Bradshaw, Teisha Y. ; Blaumeiser, Bettina ; Winship, William S. ; Reardon, Willie ; Maher, Eamonn R. ; FitzPatrick, David R. ; Wuyts, Wim ; Zenker, Martin ; Lamarche-Vane, Nathalie ; Trembath, Richard C.

American journal of human genetics, 2011-05, Vol.88 (5), p.574-585 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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2
BMPR2 Haploinsufficiency as the Inherited Molecular Mechanism for Primary Pulmonary Hypertension
BMPR2 Haploinsufficiency as the Inherited Molecular Mechanism for Primary Pulmonary Hypertension
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BMPR2 Haploinsufficiency as the Inherited Molecular Mechanism for Primary Pulmonary Hypertension

Machado, Rajiv D ; Pauciulo, Michael W. ; Thomson, Jennifer R. ; Lane, Kirk B. ; Morgan, Neil V. ; Wheeler, Lisa ; Phillips III, John A. ; Newman, John ; Williams, Denise ; Galiè, Nazzareno ; Manes, Alessandra ; McNeil, Keith ; Yacoub, Magdi ; Mikhail, Ghada ; Rogers, Paula ; Corris, Paul ; Humbert, Marc ; Donnai, Dian ; Martensson, Gunnar ; Tranebjaerg, Lisbeth ; Loyd, James E. ; Trembath, Richard C. ; Nichols, William C.

American journal of human genetics, 2001-01, Vol.68 (1), p.92-102 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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3
De Novo Thrombotic Microangiopathy After Kidney Transplantation: Clinical Features, Treatment, and Long-Term Patient and Graft Survival
De Novo Thrombotic Microangiopathy After Kidney Transplantation: Clinical Features, Treatment, and Long-Term Patient and Graft Survival
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De Novo Thrombotic Microangiopathy After Kidney Transplantation: Clinical Features, Treatment, and Long-Term Patient and Graft Survival

Caires, R.A ; Marques, I.D.B ; Repizo, L.P ; Sato, V.A.H ; Carmo, L.P.F ; Machado, D.J.B ; de Paula, F.J ; Nahas, W.C ; David-Neto, E

Transplantation proceedings, 2012-10, Vol.44 (8), p.2388-2390 [Periódico revisado por pares]

Amsterdam: Elsevier Inc

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4
Heterozygous germline mutations in BMPR2 , encoding a TGF-β receptor, cause familial primary pulmonary hypertension
Heterozygous germline mutations in BMPR2 , encoding a TGF-β receptor, cause familial primary pulmonary hypertension
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Heterozygous germline mutations in BMPR2 , encoding a TGF-β receptor, cause familial primary pulmonary hypertension

Lane, Kirk B ; Machado, Rajiv D ; Pauciulo, Michael W ; Thomson, Jennifer R ; Phillips, John A ; Loyd, James E ; Nichols, William C ; Trembath, Richard C

Nature genetics, 2000-09, Vol.26 (1), p.81-84 [Periódico revisado por pares]

London: Nature Publishing Group

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5
Clinical and Molecular Genetic Features of Pulmonary Hypertension in Patients with Hereditary Hemorrhagic Telangiectasia
Clinical and Molecular Genetic Features of Pulmonary Hypertension in Patients with Hereditary Hemorrhagic Telangiectasia
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Clinical and Molecular Genetic Features of Pulmonary Hypertension in Patients with Hereditary Hemorrhagic Telangiectasia

Trembath, Richard C ; Thomson, Jennifer R ; Machado, Rajiv D ; Morgan, Neil V ; Atkinson, Carl ; Winship, Ingrid ; Simonneau, Gerald ; Galie, Nazzareno ; Loyd, James E ; Humbert, Marc ; Nichols, William C ; Berg, Jonathan ; Manes, Alessandra ; McGaughran, Julie ; Pauciulo, Michael ; Wheeler, Lisa ; Morrell, Nicholas W

The New England journal of medicine, 2001-08, Vol.345 (5), p.325-334 [Periódico revisado por pares]

Boston, MA: Massachusetts Medical Society

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6
Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia
Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia
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Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia

Harrison, R E ; Flanagan, J A ; Sankelo, M ; Abdalla, S A ; Rowell, J ; Machado, R D ; Elliott, C G ; Robbins, I M ; Olschewski, H ; McLaughlin, V ; Gruenig, E ; Kermeen, F ; Laitinen, T ; Morrell, N W ; Trembath, R C

Journal of medical genetics, 2003-12, Vol.40 (12), p.865-871 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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7
Methylene blue photodynamic therapy in malignant melanoma decreases expression of proliferating cell nuclear antigen and heparanases
Methylene blue photodynamic therapy in malignant melanoma decreases expression of proliferating cell nuclear antigen and heparanases
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Methylene blue photodynamic therapy in malignant melanoma decreases expression of proliferating cell nuclear antigen and heparanases

Wagner, M. ; Suarez, E. R. ; Theodoro, T. R. ; Machado Filho, C. D. A. S. ; Gama, M. F. M. ; Tardivo, J. P. ; Paschoal, F. M. ; Pinhal, M. A. S.

Clinical and experimental dermatology, 2012-07, Vol.37 (5), p.527-533 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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8
CdGAP is required for transforming growth factor β- and Neu ErbB-2-induced breast cancer cell motility and invasion
CdGAP is required for transforming growth factor β- and Neu ErbB-2-induced breast cancer cell motility and invasion
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CdGAP is required for transforming growth factor β- and Neu ErbB-2-induced breast cancer cell motility and invasion

HE, Y ; NORTHEY, J. J ; PRIMEAU, M ; MACHADO, R. D ; TREMBATH, R ; SIEGEL, P. M ; LAMARCHE-VANE, N

Oncogene, 2011-03, Vol.30 (9), p.1032-1045 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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9
Thoracic textilomas after myocardial revascularisation: typical CT findings
Thoracic textilomas after myocardial revascularisation: typical CT findings
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Thoracic textilomas after myocardial revascularisation: typical CT findings

NOBRE, L. F ; MARCHIORI, E ; MAY, F ; CARRAO, A. D ; ZANETTI, G ; MACHADO, D. M

British journal of radiology, 2010, Vol.83 (985), p.4-7 [Periódico revisado por pares]

London: British Institute of Radiology

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10
Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-β family
Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-β family
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Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-β family

Thomson, Jennifer R ; Machado, Rajiv D ; Pauciulo, Michael W ; Morgan, Neil V ; Humbert, Marc ; Elliott, Greg C ; Ward, Ken ; Yacoub, Magdi ; Mikhail, Ghada ; Rogers, Paula ; Newman, John ; Wheeler, Lisa ; Higenbottam, Timothy ; Gibbs, J Simon R ; Egan, Jim ; Crozier, Agnes ; Peacock, Andrew ; Allcock, Robert ; Corris, Paul ; Loyd, James E ; Trembath, Richard C ; Nichols, William C

Journal of medical genetics, 2000-10, Vol.37 (10), p.741-745 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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