Fois A - Search Results

1

High rate of mosaicism in tuberous sclerosis complex.

Verhoef S, Bakker L, Tempelaars AM, Hesseling-Janssen AL, Mazurczak T, Jozwiak S, Fois A, Bartalini G, Zonnenberg BA, van Essen AJ, Lindhout D, Halley DJ, van den Ouweland AM. Verhoef S, et al. Among authors: fois a. Am J Hum Genet. 1999 Jun;64(6):1632-7. doi: 10.1086/302412. Am J Hum Genet. 1999. PMID: 10330349 Free PMC article.

2

An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito.

Eussen BH, Bartalini G, Bakker L, Balestri P, Di Lucca C, Van Hemel JO, Dauwerse H, van Den Ouweland AM, Ris-Stalpers C, Verhoef S, Halley DJ, Fois A. Eussen BH, et al. Among authors: fois a. J Med Genet. 2000 Apr;37(4):287-91. doi: 10.1136/jmg.37.4.287. J Med Genet. 2000. PMID: 10745047 Free PMC article.

3

Direct transfer in vitro of alpha-D-mannosidase activity from normal lymphocytes to fibroblasts of a patient with alpha-mannosidosis.

Margollicci M, Bartalini G, Balestri P, Fois A. Margollicci M, et al. Among authors: fois a. J Inherit Metab Dis. 1990;13(3):277-9. doi: 10.1007/BF01799372. J Inherit Metab Dis. 1990. PMID: 2122085 No abstract available.

4

Evaluation of lysosomal enzymes in uncultured and cultured chorionic villi and amniocytes.

Bartalini G, Margollicci MA, Balestri P, Fois A. Bartalini G, et al. Among authors: fois a. J Inherit Metab Dis. 1988;11 Suppl 2:263-6. doi: 10.1007/BF01804253. J Inherit Metab Dis. 1988. PMID: 3141717 No abstract available.

5

Chromosome abnormalities in tuberous sclerosis.

Scappaticci S, Cerimele D, Tondi M, Vivarelli R, Fois A, Fraccaro M. Scappaticci S, et al. Among authors: fois a. Hum Genet. 1988 Jun;79(2):151-6. doi: 10.1007/BF00280555. Hum Genet. 1988. PMID: 3164705

6

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.

Chun K, MacKay N, Petrova-Benedict R, Federico A, Fois A, Cole DE, Robertson E, Robinson BH. Chun K, et al. Among authors: fois a. Am J Hum Genet. 1995 Mar;56(3):558-69. Am J Hum Genet. 1995. PMID: 7887409 Free PMC article.

7

The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.

Shaag A, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al. Shaag A, et al. Among authors: fois a. Am J Hum Genet. 1995 Sep;57(3):572-80. Am J Hum Genet. 1995. PMID: 7668285 Free PMC article.

8

Relationship between café-au-lait spots as the only symptom and peripheral neurofibromatosis (NF1): a follow-up study.

Fois A, Calistri L, Balestri P, Vivarelli R, Bartalini G, Mancini L, Berardi A, Vanni M. Fois A, et al. Eur J Pediatr. 1993 Jun;152(6):500-4. doi: 10.1007/BF01955059. Eur J Pediatr. 1993. PMID: 8335018

9

Biochemical diagnosis of Canavan disease.

Bartalini G, Margollicci M, Balestri P, Farnetani MA, Cioni M, Fois A. Bartalini G, et al. Among authors: fois a. Childs Nerv Syst. 1992 Dec;8(8):468-70. doi: 10.1007/BF00274411. Childs Nerv Syst. 1992. PMID: 1288858

10

Molecular study in von Recklinghausen neurofibromatosis (NF1).

Vivarelli R, Bartalini G, Calistri L, Balestri P, Figus A, Pirastu M, Cao A, Fois A. Vivarelli R, et al. Among authors: fois a. Childs Nerv Syst. 1991 Apr;7(2):98-9. doi: 10.1007/BF00247864. Childs Nerv Syst. 1991. PMID: 1907526

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