Author/Creator: Digilio, M C - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Digilio, M C

1. An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). Issue 1 (January 1995)

Authors:: Giannotti, A; Digilio, M C; Mingarelli, R; Dallapiccola, B
Journal:: Journal of medical genetics
Issue:: Volume 32:Issue 1(1995)
Page Start:: 72
Record Type:: Journal Article
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2. Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome. Issue 11 (November 1997)

Authors:: Digilio, M C; Marino, B; Giannotti, A; Dallapiccola, B
Journal:: Journal of medical genetics
Issue:: Volume 34:Issue 11(1997)
Page Start:: 927
Record Type:: Journal Article
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3. Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. Issue 9 (5th September 2003)

Authors:: Sarkozy, A; Conti, E; Seripa, D; Digilio, M C; Grifone, N; Tandoi, C; Fazio, V M; Di Ciommo, V; Marino, B; Pizzuti, A; Dallapiccola, B
Journal:: Journal of medical genetics
Issue:: Volume 40:Issue 9(2003)
Page Start:: 704
Record Type:: Journal Article
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4. Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes. Issue 6 (1st June 1999)

Authors:: Botta, A; Novelli, G; Mari, A; Novelli, A; Sabani, M; Korenberg, J; Osborne, L R; Digilio, M C; Giannotti, A; Dallapiccola, B
Journal:: Journal of medical genetics
Issue:: Volume 36:Issue 6(1999)
Page Start:: 478
Record Type:: Journal Article
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5. Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation. Issue 12 (December 1994)

Authors:: Gomez-Lira, M; Sangalli, A; Pignatti, P F; Digilio, M C; Giannotti, A; Carnevale, E; Mottes, M
Journal:: Journal of medical genetics
Issue:: Volume 31:Issue 12(1994)
Page Start:: 965
Record Type:: Journal Article
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6. Familial atrioventricular septal defect: possible genetic mechanism. Issue 3 (September 1994)

Authors:: Digilio, M C; Marino, B; Giannotti, A; Dallapiccola, B
Journal:: Heart
Issue:: Volume 72:Issue 3(1994)
Page Start:: 301
Record Type:: Journal Article
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7. Familial postaxial acrofacial dysostosis syndrome. Issue 10 (October 1992)

Authors:: Giannotti, A; Digilio, M C; Virgili, Q; Obregon, M G; Guadagni, A M; Ventura, T; Dallapiccola, B
Journal:: Journal of medical genetics
Issue:: Volume 29:Issue 10(1992)
Page Start:: 752
Record Type:: Journal Article
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8. Heterotaxia syndromes and 22q11 deletion. Issue 12 (December 1996)

Authors:: Marino, B; Digilio, M C; Giannotti, A; Dallapiccola, B
Journal:: Journal of medical genetics
Issue:: Volume 33:Issue 12(1996)
Page Start:: 1052
Record Type:: Journal Article
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9. Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal. Issue 5 (May 1996)

Authors:: Digilio, M C; Marino, B; Giannotti, A; Dallapiccola, B
Journal:: Journal of medical genetics
Issue:: Volume 33:Issue 5(1996)
Page Start:: 416
Record Type:: Journal Article
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10. Radial aplasia and chromosome 22q11 deletion. Issue 11 (November 1997)

Authors:: Digilio, M C; Giannotti, A; Marino, B; Guadagni, A M; Orzalesi, M; Dallapiccola, B
Journal:: Journal of medical genetics
Issue:: Volume 34:Issue 11(1997)
Page Start:: 942
Record Type:: Journal Article
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