Notarangelo LD - Search Results

1

Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment.

Bozzi F, Lefranc G, Villa A, Badolato R, Schumacher RF, Khalil G, Loiselet J, Bresciani S, O'Shea JJ, Vezzoni P, Notarangelo LD, Candotti F. Bozzi F, et al. Among authors: notarangelo ld. Br J Haematol. 1998 Sep;102(5):1363-6. doi: 10.1111/j.1365-2141.1998.tb08990.x. Br J Haematol. 1998. PMID: 9753072 Free article.

2

Use of the highly polymorphic DNA marker CRI-S232 for monitoring of engraftment and chimerism following bone marrow transplantation.

Notarangelo LD, Parolini O, Porta F, Arrighini A, Basagni G, Candotti F, Cavagna A, Cossandi G, Crescini C, Faustini R, et al. Notarangelo LD, et al. Bone Marrow Transplant. 1991;7 Suppl 3:136-8. Bone Marrow Transplant. 1991. PMID: 1855078 No abstract available.

3

[Bone marrow transplantation in congenital defects of immunity].

Porta F, Notarangelo LD, Candotti F, Mazzolari E, Lanfranchi A, Ugazio AG. Porta F, et al. Among authors: notarangelo ld. Pediatr Med Chir. 1991 Jan-Feb;13(1):27-30. Pediatr Med Chir. 1991. PMID: 2052452 Italian.

4

The genomic organization of the human transcription factor 3 (TFE3) gene.

Macchi P, Notarangelo L, Giliani S, Strina D, Repetto M, Sacco MG, Vezzoni P, Villa A. Macchi P, et al. Genomics. 1995 Aug 10;28(3):491-4. doi: 10.1006/geno.1995.1179. Genomics. 1995. PMID: 7490085

5

Engrafted maternal T cells in a severe combined immunodeficiency patient express T-cell receptor variable beta segments characterized by a restricted V-D-J junctional diversity.

Sottini A, Quiròs-Roldan E, Notarangelo LD, Malagoli A, Primi D, Imberti L. Sottini A, et al. Among authors: notarangelo ld. Blood. 1995 Apr 15;85(8):2105-13. Blood. 1995. PMID: 7718881 Free article.

6

X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.

Villa A, Notarangelo L, Macchi P, Mantuano E, Cavagni G, Brugnoni D, Strina D, Patrosso MC, Ramenghi U, Sacco MG, et al. Villa A, et al. Nat Genet. 1995 Apr;9(4):414-7. doi: 10.1038/ng0495-414. Nat Genet. 1995. PMID: 7795648

7

C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by hyper IgM syndrome.

Villa A, Strina D, Macchi P, Patrosso MC, Vezzoni P, Tovo PA, Giliani S, Ugazio AG, Notarangelo LD. Villa A, et al. Among authors: notarangelo ld. Hum Mutat. 1994;3(1):73-5. doi: 10.1002/humu.1380030115. Hum Mutat. 1994. PMID: 7906987 No abstract available.

8

Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.

Villa A, Notarangelo LD, Di Santo JP, Macchi PP, Strina D, Frattini A, Lucchini F, Patrosso CM, Giliani S, Mantuano E, et al. Villa A, et al. Among authors: notarangelo ld. Proc Natl Acad Sci U S A. 1994 Mar 15;91(6):2110-4. doi: 10.1073/pnas.91.6.2110. Proc Natl Acad Sci U S A. 1994. PMID: 7907793 Free PMC article.

9

Serum soluble interleukin-2 receptor (IL-2R) in children with allergic disorders.

Guarnaccia S, Kurman CC, Notarangelo LD, La Grutta S, Candotti F, Ugazio AG, Nelson DL, Bellanti JA. Guarnaccia S, et al. Among authors: notarangelo ld. Ann Allergy. 1993 Sep;71(3):259-62. Ann Allergy. 1993. PMID: 8373000 No abstract available.

10

Application of molecular analysis to genetic counseling in the Wiskott-Aldrich syndrome (WAS).

Notarangelo LD, Candotti F, Parolini O, Mantuano E, Giliani S, Lanfranchi A, Albertini A. Notarangelo LD, et al. DNA Cell Biol. 1993 Sep;12(7):645-9. doi: 10.1089/dna.1993.12.645. DNA Cell Biol. 1993. PMID: 8397823

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