Notarangelo LD - Search Results

1

Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.

Guerrini MM, Sobacchi C, Cassani B, Abinun M, Kilic SS, Pangrazio A, Moratto D, Mazzolari E, Clayton-Smith J, Orchard P, Coxon FP, Helfrich MH, Crockett JC, Mellis D, Vellodi A, Tezcan I, Notarangelo LD, Rogers MJ, Vezzoni P, Villa A, Frattini A. Guerrini MM, et al. Among authors: notarangelo ld. Am J Hum Genet. 2008 Jul;83(1):64-76. doi: 10.1016/j.ajhg.2008.06.015. Am J Hum Genet. 2008. PMID: 18606301 Free PMC article.

2

Identification of novel RFLPs in the vicinity of CpG islands in Xq28: application to the analysis of the pattern of X chromosome inactivation.

Maestrini E, Rivella S, Tribioli C, Rocchi M, Camerino G, Santachiara-Benerecetti S, Parolini O, Notarangelo LD, Toniolo D. Maestrini E, et al. Among authors: notarangelo ld. Am J Hum Genet. 1992 Jan;50(1):156-63. Am J Hum Genet. 1992. PMID: 1346076 Free PMC article.

3

Analysis of X-chromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1): evidence for involvement of different hematopoietic cell lineages.

Notarangelo LD, Parolini O, Albertini A, Duse M, Mazzolari E, Plebani A, Camerino G, Ugazio AG. Notarangelo LD, et al. Hum Genet. 1991 Dec;88(2):130-4. doi: 10.1007/BF00206059. Hum Genet. 1991. PMID: 1757090

4

[Primary immunodeficiency 1991: new uses and prospects of genetic counseling].

Notarangelo LD, Parolini O, Lusardi M, Mazzolari E, Ugazio AG. Notarangelo LD, et al. Pediatr Med Chir. 1991 Mar-Apr;13(2):129-33. Pediatr Med Chir. 1991. PMID: 1896377 Review. Italian.

5

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

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

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.

10

Development of autologous, oligoclonal, poorly functioning T lymphocytes in a patient with autosomal recessive severe combined immunodeficiency caused by defects of the Jak3 tyrosine kinase.

Brugnoni D, Notarangelo LD, Sottini A, Airò P, Pennacchio M, Mazzolari E, Signorini S, Candotti F, Villa A, Mella P, Vezzoni P, Cattaneo R, Ugazio AG, Imberti L. Brugnoni D, et al. Among authors: notarangelo ld. Blood. 1998 Feb 1;91(3):949-55. Blood. 1998. PMID: 9446656 Free article.

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