Bolino A - Search Results

1

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

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

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

5

A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10.

Lyonnet S, Bolino A, Pelet A, Abel L, Nihoul-Fékété C, Briard ML, Mok-Siu V, Kaariainen H, Martucciello G, Lerone M, Puliti A, Luo Y, Weissenbach J, Devoto M, Munnich A, Romeo G. Lyonnet S, et al. Among authors: bolino a. Nat Genet. 1993 Aug;4(4):346-50. doi: 10.1038/ng0893-346. Nat Genet. 1993. PMID: 8401580

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

Deleted and normal chromosome 10 homologs from a patient with Hirschsprung disease isolated in two cell hybrids through enrichment by immunomagnetic selection.

Puliti A, Covone AE, Bicocchi MP, Bolino A, Lerone M, Martucciello G, Jasonni V, Romeo G. Puliti A, et al. Among authors: bolino a. Cytogenet Cell Genet. 1993;63(2):102-6. doi: 10.1159/000133510. Cytogenet Cell Genet. 1993. PMID: 8467706

8

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.

9

Frequency of RET mutations in long- and short-segment Hirschsprung disease.

Seri M, Yin L, Barone V, Bolino A, Celli I, Bocciardi R, Pasini B, Ceccherini I, Lerone M, Kristoffersson U, Larsson LT, Casasa JM, Cass DT, Abramowicz MJ, Vanderwinden JM, Kravcenkiene I, Baric I, Silengo M, Martucciello G, Romeo G. Seri M, et al. Among authors: bolino a. Hum Mutat. 1997;9(3):243-9. doi: 10.1002/(SICI)1098-1004(1997)9:3<243::AID-HUMU5>3.0.CO;2-8. Hum Mutat. 1997. PMID: 9090527

10

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

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