G
Giandomenico Palka
Researcher at University of Chieti-Pescara
Publications - 170
Citations - 4244
Giandomenico Palka is an academic researcher from University of Chieti-Pescara. The author has contributed to research in topics: Fluorescence in situ hybridization & Chromosomal translocation. The author has an hindex of 36, co-authored 170 publications receiving 3964 citations. Previous affiliations of Giandomenico Palka include University of Genoa.
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Journal ArticleDOI
Male infertility: role of genetic background
Alberto Ferlin,Florina Raicu,Valentina Gatta,Daniela Zuccarello,Giandomenico Palka,Carlo Foresta +5 more
TL;DR: The genetic causes of male infertility known to date, the genetic polymorphisms possibly associated with male infertility, and novel results of global gene expression profiling of normal human testis by microarray technology are reported.
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Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases
TL;DR: The main applications of the MLPA technique for the molecular diagnosis of human diseases are described and the gold standard for molecular analysis of all pathologies derived from the presence of gene copy number variation is represented.
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Microdeletions in interval 6 of the Y chromosome detected by STS-PCR in 6 of 33 patients with idiopathic oligo- or azoospermia
TL;DR: It is deduced that six patients had microdeletions in interval 6 of the Y chromosome that correlated with the oligo- or azoospermia of these individuals, and PCR amplification of Y-specific regions is a powerful and very sensitive tool for screening infertile men.
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Additional chromosomal abnormalities in Philadelphia-positive clone: adverse prognostic influence on frontline imatinib therapy: a GIMEMA Working Party on CML analysis
Simona Luatti,Fausto Castagnetti,Giulia Marzocchi,Carmen Baldazzi,Gabriele Gugliotta,Ilaria Iacobucci,Giorgina Specchia,Lucia Zanatta,Giovanna Rege-Cambrin,Marco Mancini,Elisabetta Abruzzese,Alfonso Zaccaria,M.G. Grimoldi,Alessandro Gozzetti,Gaia Ameli,Maria Adele Capucci,Giandomenico Palka,Paolo Bernasconi,Francesca Palandri,Fabrizio Pane,Giuseppe Saglio,Giovanni Martinelli,Gianantonio Rosti,Michele Baccarani,Nicoletta Testoni +24 more
TL;DR: It is confirmed that ACAs constitute an adverse prognostic factor in CML patients treated with imatinib as frontline therapy, and their outcome after therapy with tyrosine kinase inhibitors was inferior.
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Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome
Francesco Brancati,Francesco Brancati,Paola Fortugno,Irene Bottillo,Marc Lopez,Emmanuelle Josselin,Omar Boudghene-Stambouli,Emanuele Agolini,Laura Bernardini,Emanuele Bellacchio,Miriam Iannicelli,Alfredo De Rossi,Amina Dib-Lachachi,Liborio Stuppia,Giandomenico Palka,Stefan Mundlos,Sigmar Stricker,Uwe Kornak,Giovanna Zambruno,Bruno Dallapiccola +19 more
TL;DR: Together with cleft lip and/or palate ectodermal dysplasia (CLPED1, or Zlotogora-Ogur syndrome) due to an impaired function of nECTin-1, EDSS is the second known "nectinopathy" caused by mutations in a nectin adhesion molecule.