Research Topics
Species | D GiardinoSummaryAffiliation: Istituto Auxologico Italiano Country: Italy Publications
| Collaborators
|
Detail Information
Publications
Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded childD Giardino
Laboratorio di Citogenetica, Istituto Auxologico Italiano, Milan, Italy
Eur J Hum Genet 9:881-6. 2001..The contribution of 2q37.3 monosomy and 16q24.3 trisomy to the proband's phenotype is compared with that in reported patients with similar imbalances of either chromosome...- Pure 6p22-pter trisomic patient: refined FISH characterization and genotype-phenotype correlationD Giardino
Laboratorio di Citogenetica, Istituto Auxologico Italiano, Milan, Italy
Am J Med Genet 108:36-40. 2002..In particular, the proteinuria often observed in 6p trisomic patients could be assigned to the 6p22-6pter region... - Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlationDaniela Giardino
Cytogenetics and Molecular Genetics Laboratory, Auxological Institute, Milan, Italy
Am J Med Genet 111:319-23. 2002..We reviewed the previously reported cases in an attempt to establish genotype-phenotype correlations, which are particularly important when SMCs are identified in prenatal diagnosis... - Limited value of echography to predict true fetal mosaicism for trisomy 12Barbara Gentilin
Prenat Diagn 26:1186-9. 2006 
De novo balanced chromosome rearrangements in prenatal diagnosisDaniela Giardino
Lab Citogenetica Medica e Genetica Molecolare, IRCCS Ist Auxologico Italiano, Milano, Italy
Prenat Diagn 29:257-65. 2009....
Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotypePalma Finelli
Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Cusano Milanino 20095, Italy
Mol Cytogenet 5:16. 2012..abstract:..- Unbalanced segregation of a complex four-break 5q23-31 insertion in the 5p13 band in a malformed childDaniela Giardino
Laboratorio di Citogenetica, Istituto Auxologico Italiano, Milan, Italy
Eur J Hum Genet 12:455-9. 2004..No clinical phenotype was associated with this balanced rearrangement in the mother and a number of other carriers in the same family... - Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26)Daniela Giardino
Laboratorio di Citogenetica, Istituto Auxologico Italiano, Via Ariosto 13, 20145 Milan, Italy
Am J Med Genet A 122:261-5. 2003..3-qter monosomy ascertained in our patient is the smallest so far described within the syndrome's critical interval, and may thus enhance the search for the responsible genes... - Prenatal diagnosis of a small chromosome 2-derived supernumerary marker, and review of the reported casesDaniela Giardino
Laboratorio Citogenetica Medica, IRCCS-Istituto Auxologico Italiano, Milan, Italy
Am J Med Genet A 143:2200-3. 2007 - Genetic investigations on 8 patients affected by ring 20 chromosome syndromeDaniela Giardino
Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano Milan, Italy
BMC Med Genet 11:146. 2010..We performed a detailed clinical and genetic study on 8 patients with r(20) chromosome, aimed at detecting the genetic mechanism underlying r(20) syndrome... - FISH characterization of a supernumerary r(1)(::cen-->q22::q22-->sq21::) chromosome associated with multiple anomalies and bilateral cataractsP Finelli
Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy
Am J Med Genet 104:157-64. 2001.... - Refined FISH characterization of a de novo 1p22-p36.2 paracentric inversion and associated 1p21-22 deletion in a patient with signs of 1p36 microdeletion syndromeP Finelli
Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy
Am J Med Genet 99:308-13. 2001..PACs 1024B10 and 884E7 were found to span the breakpoint, suggesting that the clinical signs of the 1p36 microdeletion syndrome might be due to disruption of a sequence lying at 1p36.2... - Prenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRsD Giardino
Laboratorio di Citogenetica Medica, IRCCS Istituto Auxologico Italiano, Milano, Italy
Prenat Diagn 26:565-70. 2006..Phenotype description of fetuses carrying CCRs investigated by means of molecular cytogenetic techniques may contribute to improving and personalizing genetic counseling in prenatal diagnosis... - FISH characterization of t(8;12)(q12;p13) observed as the sole karyotypic anomaly in a myelodysplastic syndrome patientP Finelli
Laboratorio di Citogenetica, Istituto Auxologico Italiano, Laboratorio di Citogenetica, Via San Vittore 45, 20123, Milan, Italy
Cancer Genet Cytogenet 130:75-8. 2001..The 8q12 bkp (not yet investigated by FISH) was characterized and found to occur between markers WI-3263 and D8S524 within the region recognized by y874E10... - FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypesD Giardino
Cytogenetics Laboratory, Auxological Institute, Milan, Italy
Am J Med Genet 84:377-80. 1999..This evidence should be taken into account when SMCs are ascertained, particularly in prenatal diagnosis... - Disruption of friend of GATA 2 gene (FOG-2) by a de novo t(8;10) chromosomal translocation is associated with heart defects and gonadal dysgenesisP Finelli
Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy
Clin Genet 71:195-204. 2007..Genetic and clinical analyses provide insights into the signaling pathways by which FOG-2 affects not only cardiac development but also gonadal function and its preservation... - Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literatureLucia Ballarati
Laboratorio Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy
Eur J Med Genet 54:55-9. 2011..The inclusion of TNKS gene in the deletion interval without any phenotypical signs of Cornelia de Lange syndrome (CdLS) invalidates TNKS as a plausible candidate gene for the syndrome itself... - Characterisation of complex chromosome 18p rearrangements in two syndromic patients with immunological deficitsMaria Paola Recalcati
Laboratorio di Citogenetica Medica e Genetica Molecolare, Istituto Auxologico Italiano, Milan, Italy
Eur J Med Genet 53:186-91. 2010..Relating the refined molecular cytogenetic characterisation of these 18p chromosomal rearrangements to the patients' specific clinical characteristics can improve our understanding of the role of the 18p region in immune responses... - Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patientLucia Ballarati
Lab Citogenetica Medica e Genetica Molecolare, IRCCS, Istituto Auxologico Italiano, Milan, Italy
Eur J Med Genet 52:218-23. 2009.... - Fluorescence in situ hybridization dissection of a chronic myeloid leukemia case bearing the apparently balanced translocations (9;22)(q34;q11.2) and (11;11)(p15;q13)Francesca Malvestiti
Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy
Cancer Genet Cytogenet 188:42-7. 2009..We discuss the putative mechanism that could have led to the formation of this complex rearrangement and speculate on the role in leukemogenesis played by the genes mapping at the breakpoints and within the deleted regions... - The Italian National Survey for Prader-Willi syndrome: an epidemiologic studyGraziano Grugni
Italian Auxological Institute Foundation, Research Institute, Verbania, Italy
Am J Med Genet A 146:861-72. 2008..Overall, there was no increase in number of deaths during GH treatment, suggesting that GH administration in patients with PWS, as a group, does not increase the risk of death... - Trisomy 15q25.2-qter in an autistic child: genotype-phenotype correlationsMaria Teresa Bonati
Clinic of Medical Genetics, Istituto Auxologico Italiano, Via Viotti 3/5, 20133 Milan, Italy
Am J Med Genet A 133:184-8. 2005..2-qter pure trisomy. This karyotype-phenotype study further supports the evidence for a specific phenotype related to trisomy 15q25 or 26-qter and suggests that distal chromosome 15q may be implicated in specific behavioral phenotypes... - Growth hormone secretion among adult patients with Prader-Willi syndrome due to different genetic subtypesG Grugni
Division of Auxology, S Giuseppe Hospital, Research Institute, Istituto Auxologico Italiano, Verbania, Italy
J Endocrinol Invest 34:493-7. 2011..Few data are currently available on the relationship existing between endocrine abnormalities in PWS subjects and the different genotypes... - Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletionsGiorgio Gimelli
Laboratorio di Citogenetica, Istituto G. Gaslini, Genoa, Italy
Hum Mol Genet 12:849-58. 2003..004). The BP2/3 inversion should be an intermediate estate that facilitates the occurrence of 15q11-q13 BP2/3 deletions in the offspring... - The High Mobility Group A2 gene is amplified and overexpressed in human prolactinomasPalma Finelli
Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Via Viotti 3/4, 20123 Milan, Italy
Cancer Res 62:2398-405. 2002..These data suggest a critical role of the HMGA2 overexpression in the generation of prolactin-secreting pituitary adenomas in humans... - 13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patientsLucia Ballarati
J Med Genet 44:e60. 2007..The minimal deletion interval associated with the Dandy-Walker malformation (DWM) was narrowed to the 13q32.2-33.2 region, in which the ZIC2 and ZIC5 genes proposed as underlying various CNS malformations are mapped... - Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: cooperative study of 19 Italian laboratoriesLeda DalprÃ
Department of Experimental, Environmental Medicine, University Milan Bicocca, Monza, Italy
Genet Med 7:620-5. 2005.... - Genetics and mathematics: evidence from Prader-Willi syndromeCarlo Semenza
Department of Psychology, University of Trieste, Italy
Neuropsychologia 46:206-12. 2008..Elevated performances in PWS may result from life-long hyper-reliance on one visuo-spatial system in presence of underdevelopment of the other... - High-mobility group A2 gene expression is frequently induced in non-functioning pituitary adenomas (NFPAs), even in the absence of chromosome 12 polysomyGiovanna Maria Pierantoni
Dipartimento di Biologia e Patologia Cellulare e Molecolare, Facolta di Medicina e Chirurgia, Universita degli Studi di Napoli Federico II, Italy
Endocr Relat Cancer 12:867-74. 2005..However, it cannot be excluded that the HMGA2 overexpression may be due, in some NFPA patients, to the same, still mainly unknown, mechanisms responsible for HMGA2 overexpression in malignant neoplasias...