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M Pierluigi

Showing results (21-30 of 36) with videos related to

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American Journal of Medical Genetics|September 15, 1991
Premutation for the Martin-Bell syndrome analyzed in a large pedigree segregating also for G6PD-deficiency. I: A working hypothesis on the nature of the FRAX-mutationsG Filippi, A Arslanian, F Dagna-Bricarelli, et al.
Human Genetics|April 1, 1989
Parental age and the origin of trisomy 21. A study of 302 familiesF Dagna Bricarelli, M Pierluigi, M Landucci, et al.
American Journal of Medical Genetics|May 26, 1999
FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypesD Giardino, D Bettio, G Gottardi, et al.
American Journal of Medical Genetics. Part A|November 23, 2011
Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesisMaria Piccione, R Antona, E Salzano, et al.
Journal of Medical Genetics|February 24, 2001
The first three mosaic cri du chat syndrome patients with two rearranged cell linesC Perfumo, P Cerruti Mainardi, A Calí, et al.
Prenatal Diagnosis|October 15, 2003
Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformationsS Cavani, C Perfumo, F Faravelli, et al.
Journal of Medical Genetics|March 10, 2001
Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlationP C Mainardi, C Perfumo, A Calì, et al.
British Journal of Haematology|October 29, 1998
Cytogenetic and molecular study of 32 Down syndrome families: potential leukaemia predisposing role of the most proximal segment of chromosome 21qS Cavani, C Perfumo, A Argusti, et al.
Neurology|October 13, 2006
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancyF Madia, P Striano, E Gennaro, et al.
American Journal of Medical Genetics|July 27, 2001
Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;;14) (pter;q11.2)]R Zannolli, R Mostardini, L Pucci, et al.
Pageof 4

Showing results (21-30 of 36) with videos related to

Sort By:
Pageof 4
American Journal of Medical Genetics|September 15, 1991
Premutation for the Martin-Bell syndrome analyzed in a large pedigree segregating also for G6PD-deficiency. I: A working hypothesis on the nature of the FRAX-mutationsG Filippi, A Arslanian, F Dagna-Bricarelli, et al.
Human Genetics|April 1, 1989
Parental age and the origin of trisomy 21. A study of 302 familiesF Dagna Bricarelli, M Pierluigi, M Landucci, et al.
American Journal of Medical Genetics|May 26, 1999
FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypesD Giardino, D Bettio, G Gottardi, et al.
American Journal of Medical Genetics. Part A|November 23, 2011
Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesisMaria Piccione, R Antona, E Salzano, et al.
Journal of Medical Genetics|February 24, 2001
The first three mosaic cri du chat syndrome patients with two rearranged cell linesC Perfumo, P Cerruti Mainardi, A Calí, et al.
Prenatal Diagnosis|October 15, 2003
Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformationsS Cavani, C Perfumo, F Faravelli, et al.
Journal of Medical Genetics|March 10, 2001
Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlationP C Mainardi, C Perfumo, A Calì, et al.
British Journal of Haematology|October 29, 1998
Cytogenetic and molecular study of 32 Down syndrome families: potential leukaemia predisposing role of the most proximal segment of chromosome 21qS Cavani, C Perfumo, A Argusti, et al.
Neurology|October 13, 2006
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancyF Madia, P Striano, E Gennaro, et al.
American Journal of Medical Genetics|July 27, 2001
Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;;14) (pter;q11.2)]R Zannolli, R Mostardini, L Pucci, et al.
Pageof 4