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Results: 1 to 20 of 46

Select item 232644131.

Detection of six novel mutations in WASP gene in fifteen Iranian Wiskott-Aldrich patients.

Safaei S, Fazlollahi MR, Houshmand M, Hamidieh AA, Bemanian MH, Alavi S, Mousavi F, Pourpak Z, Moin M.

Iran J Allergy Asthma Immunol. 2012 Dec;11(4):345-8. doi: 011.04/ijaai.345348.

PMID:: 23264413; [PubMed - indexed for MEDLINE]

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Select item 229154492.

Surgery of a cyanotic heart defect in an 11-year-old boy with thrombocytopenic thrombocytopathy and severe anemia due to a GATA-1 defect: hemostatic therapy.

Hoefer J, Streif W, Kilo J, Grimm M, Berger G, Velik-Salchner C.

Klin Padiatr. 2012 Oct;224(6):382-5. doi: 10.1055/s-0032-1321875. Epub 2012 Aug 22.

PMID:: 22915449; [PubMed - indexed for MEDLINE]

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Select item 226929653.

Successful handling of autoimmunity in X-linked thrombocytopenia (XLT) using mycophenolate mofetil.

Casimiro A, Almeida T, Freitas O, Cordeiro AI, Neves C, Neves JF.

Pediatr Blood Cancer. 2012 Nov;59(5):961. doi: 10.1002/pbc.24222. Epub 2012 Jun 12. No abstract available.

PMID:: 22692965; [PubMed - indexed for MEDLINE]

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Select item 226723654.

International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country.

Glembotsky AC, Marta RF, Pecci A, De Rocco D, Gnan C, Espasandin YR, Goette NP, Negro F, Noris P, Savoia A, Balduini CL, Molinas FC, Heller PG.

J Thromb Haemost. 2012 Aug;10(8):1653-61. doi: 10.1111/j.1538-7836.2012.04805.x.

PMID:: 22672365; [PubMed - indexed for MEDLINE]

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Select item 220389415.

IVS6+5G>A found in Wiskott-Aldrich syndrome and X-linked thrombocytopenia in a Korean family.

Yoon SH, Cho T, Kim HJ, Kim SY, Ko JH, Baek HS, Lee HJ, Lee CH.

Pediatr Blood Cancer. 2012 Feb;58(2):297-9. doi: 10.1002/pbc.23377. Epub 2011 Oct 28.

PMID:: 22038941; [PubMed - indexed for MEDLINE]

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Select item 217102756.

Monozygotic twin pair showing discordant phenotype for X-linked thrombocytopenia and Wiskott-Aldrich syndrome: a role for epigenetics?

Buchbinder D, Nadeau K, Nugent D.

J Clin Immunol. 2011 Oct;31(5):773-7. doi: 10.1007/s10875-011-9561-3. Epub 2011 Jun 28.

PMID:: 21710275; [PubMed - indexed for MEDLINE]

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Select item 213763817.

A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding.

Massaad MJ, Ramesh N, Le Bras S, Giliani S, Notarangelo LD, Al-Herz W, Notarangelo LD, Geha RS.

J Allergy Clin Immunol. 2011 Apr;127(4):998-1005.e1-2. doi: 10.1016/j.jaci.2011.01.015. Epub 2011 Mar 3.

PMID:: 21376381; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 211782758.

The Wiskott-Aldrich syndrome: The actin cytoskeleton and immune cell function.

Blundell MP, Worth A, Bouma G, Thrasher AJ.

Dis Markers. 2010;29(3-4):157-75. doi: 10.3233/DMA-2010-0735. Review.

PMID:: 21178275; [PubMed - indexed for MEDLINE]

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Select item 208445459.

FLNA p.V528M substitution is neither associated with bilateral periventricular nodular heterotopia nor with macrothrombocytopenia.

Kunishima S, Ito-Yamamura Y, Hayakawa A, Yamamoto T, Saito H.

J Hum Genet. 2010 Dec;55(12):844-6. doi: 10.1038/jhg.2010.114. Epub 2010 Sep 16.

PMID:: 20844545; [PubMed - indexed for MEDLINE]

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Select item 2049339510.

Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatment.

Pai SY, Notarangelo LD.

Immunol Allergy Clin North Am. 2010 May;30(2):179-94. doi: 10.1016/j.iac.2010.02.001. Review.

PMID:: 20493395; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2023212211.

Clinical aspects and genetic analysis of taiwanese patients with wiskott-Aldrich syndrome protein mutation: the first identification of x-linked thrombocytopenia in the chinese with novel mutations.

Lee WI, Huang JL, Jaing TH, Wu KH, Chien YH, Chang KW.

J Clin Immunol. 2010 Jul;30(4):593-601. doi: 10.1007/s10875-010-9381-x. Epub 2010 Mar 16.

PMID:: 20232122; [PubMed - indexed for MEDLINE]

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Select item 2017311512.

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.

Albert MH, Bittner TC, Nonoyama S, Notarangelo LD, Burns S, Imai K, Espanol T, Fasth A, Pellier I, Strauss G, Morio T, Gathmann B, Noordzij JG, Fillat C, Hoenig M, Nathrath M, Meindl A, Pagel P, Wintergerst U, Fischer A, Thrasher AJ, Belohradsky BH, Ochs HD.

Blood. 2010 Apr 22;115(16):3231-8. doi: 10.1182/blood-2009-09-239087. Epub 2010 Feb 19.

PMID:: 20173115; [PubMed - indexed for MEDLINE]

Free Article

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Select item 2013024013.

Impaired NK-cell migration in WAS/XLT patients: role of Cdc42/WASp pathway in the control of chemokine-induced beta2 integrin high-affinity state.

Stabile H, Carlino C, Mazza C, Giliani S, Morrone S, Notarangelo LD, Notarangelo LD, Santoni A, Gismondi A.

Blood. 2010 Apr 8;115(14):2818-26. doi: 10.1182/blood-2009-07-235804. Epub 2010 Feb 3.

PMID:: 20130240; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2000819114.

New insights into the biology of Wiskott-Aldrich syndrome (WAS).

Thrasher AJ.

Hematology Am Soc Hematol Educ Program. 2009:132-8. doi: 10.1182/asheducation-2009.1.132. Review.

PMID:: 20008191; [PubMed - indexed for MEDLINE]

Free Article

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Select item 1968462515.

Hematopoietic stem cell transplantation for X-linked thrombocytopenia from a mild symptomatic carrier.

Okuya M, Kurosawa H, Kubota T, Endoh K, Ogiwara A, Nonoyama S, Hagisawa S, Sato Y, Matsushita T, Fukushima K, Sugita K, Sato T, Arisaka O.

Bone Marrow Transplant. 2010 Mar;45(3):607-9. doi: 10.1038/bmt.2009.200. Epub 2009 Aug 17. No abstract available.

PMID:: 19684625; [PubMed - indexed for MEDLINE]

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Select item 1935195916.

Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome.

Bosticardo M, Marangoni F, Aiuti A, Villa A, Grazia Roncarolo M.

Blood. 2009 Jun 18;113(25):6288-95. doi: 10.1182/blood-2008-12-115253. Epub 2009 Apr 7. Review.

PMID:: 19351959; [PubMed - indexed for MEDLINE]

Free Article

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Select item 1921386917.

Systemic lupus erythematosus and Wiskott-Aldrich syndrome in an Italian patient.

Monteferrante G, Giani M, van den Heuvel M.

Lupus. 2009 Mar;18(3):273-7. doi: 10.1177/0961203308095000.

PMID:: 19213869; [PubMed - indexed for MEDLINE]

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Select item 1914708418.

Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment.

Ochs HD, Filipovich AH, Veys P, Cowan MJ, Kapoor N.

Biol Blood Marrow Transplant. 2009 Jan;15(1 Suppl):84-90. doi: 10.1016/j.bbmt.2008.10.007. Review.

PMID:: 19147084; [PubMed - indexed for MEDLINE]

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Select item 1908276019.

Mutations of the Wiskott-Aldrich Syndrome Protein affect protein expression and dictate the clinical phenotypes.

Ochs HD.

Immunol Res. 2009;44(1-3):84-8. doi: 10.1007/s12026-008-8084-3. Review.

PMID:: 19082760; [PubMed - indexed for MEDLINE]

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Select item 1893012420.

Human phenotypes associated with GATA-1 mutations.

Ciovacco WA, Raskind WH, Kacena MA.

Gene. 2008 Dec 31;427(1-2):1-6. doi: 10.1016/j.gene.2008.09.018. Epub 2008 Sep 30.

PMID:: 18930124; [PubMed - indexed for MEDLINE]

Free PMC Article

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5 free full-text articles in PubMed Central

A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding. [J Allergy Clin Immunol. 2011]
A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding.
Massaad MJ, Ramesh N, Le Bras S, Giliani S, Notarangelo LD, Al-Herz W, Notarangelo LD, Geha RS. J Allergy Clin Immunol. 2011 Apr; 127(4):998-1005.e1-2. Epub 2011 Mar 3.
Review Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatment. [Immunol Allergy Clin North Am....]
Review Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatment.
Pai SY, Notarangelo LD. Immunol Allergy Clin North Am. 2010 May; 30(2):179-94.
Impaired NK-cell migration in WAS/XLT patients: role of Cdc42/WASp pathway in the control of chemokine-induced beta2 integrin high-affinity state. [Blood. 2010]
Impaired NK-cell migration in WAS/XLT patients: role of Cdc42/WASp pathway in the control of chemokine-induced beta2 integrin high-affinity state.
Stabile H, Carlino C, Mazza C, Giliani S, Morrone S, Notarangelo LD, Notarangelo LD, Santoni A, Gismondi A. Blood. 2010 Apr 8; 115(14):2818-26. Epub 2010 Feb 3.

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