Bolino A - Search Results

1

Exclusion of the SCN2B gene as candidate for CMT4B.

Bolino A, Seri M, Caroli F, Eubanks J, Srinivasan J, Mandich P, Schenone A, Quattrone A, Romeo G, Catterall WA, Devoto M. Bolino A, et al. Eur J Hum Genet. 1998 Nov-Dec;6(6):629-34. doi: 10.1038/sj.ejhg.5200220. Eur J Hum Genet. 1998. PMID: 9887383

2

Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing.

Bolino A, Brancolini V, Bono F, Bruni A, Gambardella A, Romeo G, Quattrone A, Devoto M. Bolino A, et al. Hum Mol Genet. 1996 Jul;5(7):1051-4. doi: 10.1093/hmg/5.7.1051. Hum Mol Genet. 1996. PMID: 8817346

3

A new candidate region for the positional cloning of the XLP gene.

Bolino A, Yin L, Seri M, Cusano R, Cinti R, Coffey A, Brooksbank R, Howell G, Bentley D, Davis JR, Lanyi A, Huang D, Stark M, Creaven M, Bjørkhaug L, Heitzmann F, Lamartine J, Gaudi S, Sylla BS, Lenoir GM, Castagnola E, Giacchino R, Porta G, Franco B, Zollo M, Sumegi J, Romeo G. Bolino A, et al. Eur J Hum Genet. 1998 Sep-Oct;6(5):509-17. doi: 10.1038/sj.ejhg.5200249. Eur J Hum Genet. 1998. PMID: 9801876

4

Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor.

Seri M, Bolino A, Galietta LJ, Lerone M, Silengo M, Romeo G. Seri M, et al. Among authors: bolino a. Hum Mutat. 1997;9(2):185-7. doi: 10.1002/(SICI)1098-1004(1997)9:2<185::AID-HUMU14>3.0.CO;2-Z. Hum Mutat. 1997. PMID: 9067762 No abstract available.

5

Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B).

Gambardella A, Bolino A, Muglia M, Valentino P, Bono F, Oliveri RL, Sabatelli M, Brancolini V, Van Broeckhoven C, Romeo G, Devoto M, Quattrone A. Gambardella A, et al. Among authors: bolino a. Neurology. 1998 Mar;50(3):799-801. doi: 10.1212/wnl.50.3.799. Neurology. 1998. PMID: 9521281

6

Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment.

Seri M, Martucciello G, Paleari L, Bolino A, Priolo M, Salemi G, Forabosco P, Caroli F, Cusano R, Tocco T, Lerone M, Cama A, Torre M, Guys JM, Romeo G, Jasonni V. Seri M, et al. Among authors: bolino a. Hum Genet. 1999 Jan;104(1):108-10. doi: 10.1007/s004390050919. Hum Genet. 1999. PMID: 10071202

7

Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.

Bolino A, Levy ER, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou RK, Hausmanowa-Petrusewicz I, Mandich P, Gambardella A, Quattrone A, Devoto M, Monaco AP. Bolino A, et al. Genomics. 2000 Jan 15;63(2):271-8. doi: 10.1006/geno.1999.6088. Genomics. 2000. PMID: 10673338

8

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP. Bolino A, et al. Nat Genet. 2000 May;25(1):17-9. doi: 10.1038/75542. Nat Genet. 2000. PMID: 10802647

9

Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets.

Bolino A, Devoto M, Enia G, Zoccali C, Weissenbach J, Romeo G. Bolino A, et al. Eur J Hum Genet. 1993;1(4):269-79. doi: 10.1159/000472424. Eur J Hum Genet. 1993. PMID: 7915957

10

Heterogeneity and low detection rate of RET mutations in Hirschsprung disease.

Yin L, Barone V, Seri M, Bolino A, Bocciardi R, Ceccherini I, Pasini B, Tocco T, Lerone M, Cywes S, et al. Yin L, et al. Among authors: bolino a. Eur J Hum Genet. 1994;2(4):272-80. doi: 10.1159/000472371. Eur J Hum Genet. 1994. PMID: 7704557

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