Romeo G - Search Results

1

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: romeo g. Nat Genet. 1993 Aug;4(4):346-50. doi: 10.1038/ng0893-346. Nat Genet. 1993. PMID: 8401580

2

SOX10 mutations in patients with Waardenburg-Hirschsprung disease.

Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Préhu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, Read AP, Wegner M, Goossens M. Pingault V, et al. Among authors: romeo g. Nat Genet. 1998 Feb;18(2):171-3. doi: 10.1038/ng0298-171. Nat Genet. 1998. PMID: 9462749

3

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease.

Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, Pasini B, Bocciardi R, Lerone M, Kääriäinen H, et al. Romeo G, et al. Nature. 1994 Jan 27;367(6461):377-8. doi: 10.1038/367377a0. Nature. 1994. PMID: 8114938

4

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: romeo g. Cytogenet Cell Genet. 1993;63(2):102-6. doi: 10.1159/000133510. Cytogenet Cell Genet. 1993. PMID: 8467706

5

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. Among authors: romeo g. Eur J Hum Genet. 1993;1(4):269-79. doi: 10.1159/000472424. Eur J Hum Genet. 1993. PMID: 7915957

6

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. Among authors: romeo g. Hum Mol Genet. 1996 Jul;5(7):1051-4. doi: 10.1093/hmg/5.7.1051. Hum Mol Genet. 1996. PMID: 8817346

7

Assignment of mouse Gfra1, the homologue of a new human HSCR candidate gene, to the telomeric region of mouse chromosome 19.

Puliti A, Cinti R, Seri M, Ceccherini I, Romeo G. Puliti A, et al. Among authors: romeo g. Cytogenet Cell Genet. 1997;78(3-4):291-4. doi: 10.1159/000134675. Cytogenet Cell Genet. 1997. PMID: 9465906

8

Genotype-phenotype correlation and germline mosaicism in DMD/BMD patients with deletions of the dystrophin gene.

Covone AE, Lerone M, Romeo G. Covone AE, et al. Among authors: romeo g. Hum Genet. 1991 Jul;87(3):353-60. doi: 10.1007/BF00200919. Hum Genet. 1991. PMID: 1864612

9

Exclusion of linkage between RET and neuronal intestinal dysplasia type B.

Barone V, Weber D, Luo Y, Brancolini V, Devoto M, Romeo G. Barone V, et al. Among authors: romeo g. Am J Med Genet. 1996 Mar 15;62(2):195-8. doi: 10.1002/(SICI)1096-8628(19960315)62:2<195::AID-AJMG15>3.0.CO;2-J. Am J Med Genet. 1996. PMID: 8882403

10

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: romeo g. 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

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