Notarangelo LD - Search Results

1

Exonic knockout and knockin gene editing in hematopoietic stem and progenitor cells rescues RAG1 immunodeficiency.

Castiello MC, Brandas C, Ferrari S, Porcellini S, Sacchetti N, Canarutto D, Draghici E, Merelli I, Barcella M, Pelosi G, Vavassori V, Varesi A, Jacob A, Scala S, Basso Ricci L, Paulis M, Strina D, Di Verniere M, Sergi Sergi L, Serafini M, Holland SM, Bergerson JRE, De Ravin SS, Malech HL, Pala F, Bosticardo M, Brombin C, Cugnata F, Calzoni E, Crooks GM, Notarangelo LD, Genovese P, Naldini L, Villa A. Castiello MC, et al. Among authors: notarangelo ld. Sci Transl Med. 2024 Feb 7;16(733):eadh8162. doi: 10.1126/scitranslmed.adh8162. Epub 2024 Feb 7. Sci Transl Med. 2024. PMID: 38324638

2

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

3

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

4

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.

5

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.

6

Monocyte function in a severe combined immunodeficient patient with a donor splice site mutation in the Jak3 gene.

Villa A, Sironi M, Macchi P, Matteucci C, Notarangelo LD, Vezzoni P, Mantovani A. Villa A, et al. Among authors: notarangelo ld. Blood. 1996 Aug 1;88(3):817-23. Blood. 1996. PMID: 8704236 Free article.

7

Partial V(D)J recombination activity leads to Omenn syndrome.

Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, Imberti L, Gatta LB, Ochs HD, Schwarz K, Notarangelo LD, Vezzoni P, Spanopoulou E. Villa A, et al. Among authors: notarangelo ld. Cell. 1998 May 29;93(5):885-96. doi: 10.1016/s0092-8674(00)81448-8. Cell. 1998. PMID: 9630231 Free article.

8

Omenn syndrome: a disorder of Rag1 and Rag2 genes.

Villa A, Santagata S, Bozzi F, Imberti L, Notarangelo LD. Villa A, et al. Among authors: notarangelo ld. J Clin Immunol. 1999 Mar;19(2):87-97. doi: 10.1023/a:1020550432126. J Clin Immunol. 1999. PMID: 10226883 Review.

9

RAG and RAG defects.

Notarangelo LD, Villa A, Schwarz K. Notarangelo LD, et al. Curr Opin Immunol. 1999 Aug;11(4):435-42. doi: 10.1016/S0952-7915(99)80073-9. Curr Opin Immunol. 1999. PMID: 10448134 Review.

10

Prenatal diagnosis of RAG-deficient Omenn syndrome.

Villa A, Bozzi F, Sobacchi C, Strina D, Fasth A, Pasic S, Notarangelo LD, Vezzoni P. Villa A, et al. Among authors: notarangelo ld. Prenat Diagn. 2000 Jan;20(1):56-9. Prenat Diagn. 2000. PMID: 10701853

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