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Molecular and cell Biology. Human genetics

Biography

PERSONAL DATA:
Name: Annalisa Frattini
Date and place of Birth: 27th, December 1962
Nationality: Italian
EDUCATIONAL TRAINING:
1983: High School Diploma in Humanities, Institute "E.Cairoli" Varese
1989: Degree in Biological Science, University of Milan
1994: Specialization Diploma in Biotecnological Applications, University of Milan

RESEARCH AND PROFESSIONAL EXPERIENCE:
1987-1989: Internship in Entomology Department of European Community Center of Ispra - Varese – under Prof. R. Cavalloro.
1989–1994: Internship in Human Genome Unit at Institute of Advanced Biomedical Technologies, in Milan, under Dr. P. Vezzoni
1995–2008: Researcher at the Human Genome Department of the Institute of Biomedical Technologies of National Council of Research, in Milan, under Dr. P. Vezzoni
2009 -at present Researcher at the Institute of Biomedical Technologies of National Council of Research.
Collaboration with Prof. Francesco Pasquali at the Clinical and Experimental Biomedical Science, Univeristy of Insubria via Dunant 5 - Varese - Italy

Activities

Employment (1)

National Research Council: Rome, IT

1989-11-02 to present | Ricercatore (IRGB)
Employment
Source: Self-asserted source
Annalisa Frattini

Education and qualifications (2)

Università degli Studi di Milano: Milan, IT

1990-10 to 1994-06 | Specialization Diploma in Biotechnological Applications
Education
Source: Self-asserted source
Annalisa Frattini

Università deli Studi di Milano: Milano, IT

1983-10-10 to 1989-07-07 | Scienze Biologiche
Education
Source: Self-asserted source
Annalisa Frattini

Works (50 of 82)

Items per page:
Page 1 of 2

Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman–Diamond syndrome cells

British Journal of Haematology
2024 | Journal article
EID:

2-s2.0-85174577008

Part of ISSN: 13652141 00071048
Contributors: Cipolli, M.; Boni, C.; Penzo, M.; Villa, I.; Bolamperti, S.; Baldisseri, E.; Frattini, A.; Porta, G.; Api, M.; Selicato, N. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

The synergism of SMC1A cohesin gene silencing and bevacizumab against colorectal cancer

Journal of Experimental and Clinical Cancer Research
2024 | Journal article
EID:

2-s2.0-85185105000

Part of ISSN: 17569966
Contributors: Di Nardo, M.; Astigiano, S.; Baldari, S.; Pallotta, M.M.; Porta, G.; Pigozzi, S.; Antonini, A.; Emionite, L.; Frattini, A.; Valli, R. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Donor Cell Acute Myeloid Leukemia after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: A Case Report and Literature Review

Genes
2023 | Journal article
EID:

2-s2.0-85177796039

Part of ISSN: 20734425
Contributors: Micheloni, G.; Frattini, A.; Donini, M.; Dusi, S.; Leszl, A.; Di Meglio, A.; Pigazzi, M.; Musio, A.; Zecca, M.; Mina, T. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier
grade
Preferred source (of 3)‎

Occurrence of L1M Elements in Chromosomal Rearrangements Associated to Chronic Myeloid Leukemia (CML): Insights from Patient-Specific Breakpoints Characterization

Genes
2023 | Journal article
EID:

2-s2.0-85165947358

Part of ISSN: 20734425
Contributors: L’Abbate, A.; Moretti, V.; Pungolino, E.; Micheloni, G.; Valli, R.; Frattini, A.; Barcella, M.; Acquati, F.; Reinbold, R.A.; Costantino, L. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier
grade
Preferred source (of 3)‎

Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman–Diamond Syndrome

Frontiers in Genetics
2022 | Journal article
EID:

2-s2.0-85136701275

Part of ISSN: 16648021
Contributors: Taha, I.; Foroni, S.; Valli, R.; Frattini, A.; Roccia, P.; Porta, G.; Zecca, M.; Bergami, E.; Cipolli, M.; Pasquali, F. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Enhanced P53 levels are involved in the reduced mineralization capacity of osteoblasts derived from shwachman–diamond syndrome subjects

International Journal of Molecular Sciences
2021 | Journal article
EID:

2-s2.0-85120983965

Part of ISSN: 14220067 16616596
Contributors: Frattini, A.; Bolamperti, S.; Valli, R.; Cipolli, M.; Pinto, R.M.; Bergami, E.; Frau, M.R.; Cesaro, S.; Signo, M.; Bezzerri, V. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier
grade
Preferred source (of 3)‎

The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations

Molecular Cytogenetics
2021 | Journal article
EID:

2-s2.0-85119848780

Part of ISSN: 17558166
Contributors: Khan, A.W.; Kennedy, A.; Furutani, E.; Myers, K.; Frattini, A.; Acquati, F.; Roccia, P.; Micheloni, G.; Minelli, A.; Porta, G. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Chromosome missegregation in single human oocytes is related to the age and gene expression profile

International Journal of Molecular Sciences
2020 | Journal article
EID:

2-s2.0-85081556826

Part of ISSN: 14220067 16616596
Contributors: Barone, S.; Sarogni, P.; Valli, R.; Pallotta, M.M.; Silvia, G.; Frattini, A.; Khan, A.W.; Rapalini, E.; Parri, C.; Musio, A.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype

Molecular Cytogenetics
2020 | Journal article
EID:

2-s2.0-85077375321

Part of ISSN: 17558166
Contributors: Khan, A.W.; Minelli, A.; Frattini, A.; Montalbano, G.; Bogni, A.; Fabbri, M.; Porta, G.; Acquati, F.; Pinto, R.M.; Bergami, E. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Paracrine effect of human adipose-derived stem cells on lymphatic endothelial cells

Regenerative Medicine
2020 | Journal article
EID:

2-s2.0-85097867509

Part of ISSN: 1746076X 17460751
Contributors: Marcozzi, C.; Frattini, A.; Borgese, M.; Rossi, F.; Barone, L.; Solari, E.; Valli, R.; Gornati, R.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier
grade
Preferred source (of 2)‎

Shwachman-Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability

British Journal of Haematology
2019 | Journal article
EID:

2-s2.0-85058986288

Part of ISSN: 13652141 00071048
Contributors: Valli, R.; Minelli, A.; Galbiati, M.; D'Amico, G.; Frattini, A.; Montalbano, G.; Khan, A.W.; Porta, G.; Millefanti, G.; Olivieri, C. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Bone marrow failure may be caused by chromosome anomalies exerting effects on RUNX1T1 gene

Molecular Cytogenetics
2018 | Journal article
EID:

2-s2.0-85040461900

Part of ISSN: 17558166
Contributors: Valli, R.; Vinti, L.; Frattini, A.; Fabbri, M.; Montalbano, G.; Olivieri, C.; Minelli, A.; Locatelli, F.; Pasquali, F.; Maserati, E.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

The human RNASET2 protein affects the polarization pattern of human macrophages in vitro

Immunology Letters
2018 | Journal article
EID:

2-s2.0-85054437167

Part of ISSN: 18790542 01652478
Contributors: Scaldaferri, D.; Bosi, A.; Fabbri, M.; Pedrini, E.; Inforzato, A.; Valli, R.; Frattini, A.; De Vito, A.; Noonan, D.M.; Taramelli, R. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Toxicogenomics applied to in vitro Cell Transformation Assay reveals mechanisms of early response to cadmium

Toxicology in Vitro
2018 | Journal article
EID:

2-s2.0-85041480188

Part of ISSN: 18793177 08872333
Contributors: Callegaro, G.; Forcella, M.; Melchioretto, P.; Frattini, A.; Gribaldo, L.; Fusi, P.; Fabbri, M.; Urani, C.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Novel recurrent chromosome anomalies in Shwachman–Diamond syndrome

Pediatric Blood and Cancer
2017 | Journal article
EID:

2-s2.0-85010987696

Part of ISSN: 15455017 15455009
Contributors: Valli, R.; De Paoli, E.; Nacci, L.; Frattini, A.; Pasquali, F.; Maserati, E.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Shwachman-Diamond syndrome: diagnosis, pathogenesis and prognosis

Expert Opinion on Orphan Drugs
2017 | Journal article
EID:

2-s2.0-85029951310

Part of ISSN: 21678707
Contributors: Valli, R.; Frattini, A.; Minelli, A.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Comparative genomic hybridization on microarray (a-CGH) in olfactory neuroblastoma: Analysis of ten cases and review of the literature

Genes Chromosomes and Cancer
2015 | Journal article
EID:

2-s2.0-84944275352

Part of ISSN: 10982264 10452257
Contributors: Valli, R.; De Bernardi, F.; Frattini, A.; Volpi, L.; Bignami, M.; Facchetti, F.; Pasquali, F.; Castelnuovo, P.; Maserati, E.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

High variability of genomic instability and gene expression profiling in different HeLa clones

Scientific Reports
2015 | Journal article
EID:

2-s2.0-84945161974

Part of ISSN: 20452322
Contributors: Frattini, A.; Fabbri, M.; Valli, R.; De Paoli, E.; Montalbano, G.; Gribaldo, L.; Pasquali, F.; Maserati, E.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier
grade
Preferred source (of 2)‎

SMC1B is present in mammalian somatic cells and interacts with mitotic cohesin proteins

Scientific Reports
2015 | Journal article
EID:

2-s2.0-84950327517

Part of ISSN: 20452322
Contributors: Mannini, L.; Cucco, F.; Quarantotti, V.; Amato, C.; Tinti, M.; Tana, L.; Frattini, A.; Delia, D.; Krantz, I.D.; Jessberger, R. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Erratum: OTX1 expression in breast cancer is regulated by p53 (Oncogene (2011) 30 (3096-3103) doi:10.1038/onc.2011.31)

Oncogene
2014 | Journal article
EID:

2-s2.0-84896765923

Part of ISSN: 09509232 14765594
Contributors: Terrinoni, A.; Pagani, I.S.; Zucchi, I.; Chiaravalli, A.M.; Serra, V.; Rovera, F.; Sirchia, S.; Dionigi, G.; Miozzo, M.; Frattini, A. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

A homozygous contiguous gene deletion in chromosome 16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient

Calcified Tissue International
2012 | Journal article
EID:

2-s2.0-84866025076

Part of ISSN: 0171967X 14320827
Contributors: Pangrazio, A.; Frattini, A.; Valli, R.; Maserati, E.; Susani, L.; Vezzoni, P.; Villa, A.; Al-Herz, W.; Sobacchi, C.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

A nonsynonymous TNFRSF11A variation increases NFκB activity and the severity of Paget's disease

Journal of Bone and Mineral Research
2012 | Journal article
EID:

2-s2.0-84856190866

Part of ISSN: 15234681 08840431
Contributors: Gianfrancesco, F.; Rendina, D.; Di Stefano, M.; Mingione, A.; Esposito, T.; Merlotti, D.; Gallone, S.; Magliocca, S.; Goode, A.; Formicola, D. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Erratum: OTX1 expression in breast cancer is regulated by p53 (Oncogene (2011) 30 (3096-3103) DOI: 10.1038/onc.2011.31)

Oncogene
2011 | Journal article
EID:

2-s2.0-79960042054

Part of ISSN: 09509232 14765594
Contributors: Terrinoni, A.; Pagani, I.S.; Zucchi, I.; Chiaravalli, A.M.; Serra, V.; Rovera, F.; Sirchia, S.; Dionigi, G.; Miozzo, M.; Frattini, A. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Erratum: The mammary gland and the homeobox gene otx1. (Breast Journal (2010) 16:1 (S53-S56))

Breast Journal
2011 | Journal article
EID:

2-s2.0-80052568928

Part of ISSN: 1075122X 15244741
Contributors: Pagani, I.S.; Terrinoni, A.; Marenghi, L.; Zucchi, I.; Chiaravalli, A.M.; Serra, V.; Rovera, F.; Sirchia, S.; Dionigi, G.; Miozzo, M. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

OTX1 expression in breast cancer is regulated by p53

Oncogene
2011 | Journal article
EID:

2-s2.0-79960041603

Part of ISSN: 14765594 09509232
Contributors: Terrinoni, A.; Pagani, I.S.; Zucchi, I.; Chiaravalli, A.M.; Serra, V.; Rovera, F.; Sirchia, S.; Dionigi, G.; Miozzo, M.; Frattini, A. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

A new familial sclerosing bone dysplasia

Journal of Bone and Mineral Research
2010 | Journal article
EID:

2-s2.0-77953453843

Part of ISSN: 08840431
Contributors: Chouery, E.; Pangrazio, A.; Frattini, A.; Villa, A.; Van Wesenbeeck, L.; Piters, E.; Van Hul, W.; Coxon, F.P.; Schouten, T.; Helfrich, M. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: Report of 20 novel mutations

Human Mutation
2010 | Journal article
EID:

2-s2.0-74049126057

Part of ISSN: 10597794
Contributors: Pangrazio, A.; Pusch, M.; Caldana, E.; Frattini, A.; Lanino, E.; Tamhankar, P.M.; Phadke, S.; Lopez, A.G.M.; Orchard, P.; Mihci, E. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

The mammary gland and the homeobox gene Otx1

Breast Journal
2010 | Journal article
EID:

2-s2.0-78649293646

Part of ISSN: 1075122X 15244741
Contributors: Pagani, I.S.; Terrinoni, A.; Marenghi, L.; Zucchi, I.; Chiaravalli, A.M.; Serra, V.; Rovera, F.; Sirchia, S.; Dionigi, G.; Mozzo, M. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Brain lipid composition in grey-lethal mutant mouse characterized by severe malignant osteopetrosis

Glycoconjugate Journal
2009 | Conference paper
EID:

2-s2.0-67651150040

Part of ISSN: 02820080 15734986
Contributors: Prinetti, A.; Rocchetta, F.; Costantino, E.; Frattini, A.; Caldana, E.; Rucci, F.; Bettiga, A.; Poliani, P.L.; Chigorno, V.; Sonnino, S.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients

Journal of Bone and Mineral Research
2009 | Journal article
EID:

2-s2.0-58149086876

Part of ISSN: 08840431
Contributors: Pangrazio, A.; Caldana, M.E.; Sobacchi, C.; Panaroni, C.; Susani, L.; Mihci, E.; Cavaliere, M.L.; Giliani, S.; Villa, A.; Frattini, A.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

Human Molecular Genetics
2009 | Journal article
EID:

2-s2.0-58749104967

Part of ISSN: 09646906 14602083
Contributors: Revenkova, E.; Focarelli, M.L.; Susani, L.; Paulis, M.; Bassi, M.T.; Mannini, L.; Frattini, A.; Delia, D.; Krantz, I.; Vezzoni, P. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Impaired gastric acidification negatively affects calcium homeostasis and bone mass

Nature Medicine
2009 | Journal article
EID:

2-s2.0-67349206201

Part of ISSN: 10788956 1546170X
Contributors: Schinke, T.; Schilling, A.F.; Baranowsky, A.; Seitz, S.; Marshall, R.P.; Linn, T.; Blaeker, M.; Huebner, A.K.; Schulz, A.; Simon, R. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

In utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knockin murine model for classical, dominant osteogenesis imperfecta

Blood
2009 | Journal article
EID:

2-s2.0-67651091674

Part of ISSN: 15280020 00064971
Contributors: Panaroni, C.; Gioia, R.; Lupi, A.; Besio, R.; Goldstein, S.A.; Kreider, J.; Leikin, S.; Vera, J.C.; Mertz, E.L.; Perilli, E. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations

American Journal of Human Genetics
2008 | Journal article
EID:

2-s2.0-46349084493

Part of ISSN: 00029297
Contributors: Guerrini, M.M.; Sobacchi, C.; Cassani, B.; Abinun, M.; Kilic, S.S.; Pangrazio, A.; Moratto, D.; Mazzolari, E.; Clayton-Smith, J.; Orchard, P. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation

Cytotechnology
2008 | Conference paper
EID:

2-s2.0-57249094288

Part of ISSN: 09209069 15730778
Contributors: Villa, A.; Pangrazio, A.; Caldana, E.; Guerrini, M.; Vezzoni, P.; Frattini, A.; Sobacchi, C.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Electron microscopic findings in skin biopsies from patients with infantile osteopetrosis and neuronal storage disease

Ultrastructural Pathology
2007 | Journal article
EID:

2-s2.0-35648978228

Part of ISSN: 01913123 15210758
Contributors: Alroy, J.; Pfannl, R.; Ucci, A.; Lefranc, G.; Frattini, A.; Mégarbané, A.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Expansion cranioplasty with jackscrew distracters for craniosynostosis and intracranial hypertension in transplanted osteopetrosis

Pediatric Neurosurgery
2007 | Journal article
EID:

2-s2.0-33847385848

Part of ISSN: 10162291
Contributors: Dowlati, D.; Winston, K.R.; Ketch, L.L.; Quinones, R.; Giller, R.; Frattini, A.; Van Hove, J.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans

Journal of Clinical Investigation
2007 | Journal article
EID:

2-s2.0-34147150205

Part of ISSN: 00219738 15588238
Contributors: Van Wesenbeeck, L.; Odgren, P.R.; Coxon, F.P.; Frattini, A.; Moens, P.; Perdu, B.; MacKay, C.A.; Van Hul, E.; Timmermans, J.-P.; Vanhoenacker, F. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis

European Journal of Medical Genetics
2007 | Journal article
EID:

2-s2.0-34248551490

Part of ISSN: 17697212
Contributors: Souraty, N.; Noun, P.; Djambas-Khayat, C.; Chouery, E.; Pangrazio, A.; Villa, A.; Lefranc, G.; Frattini, A.; Mégarbané, A.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL

Nature Genetics
2007 | Journal article
EID:

2-s2.0-34547521058

Part of ISSN: 10614036 15461718
Contributors: Sobacchi, C.; Frattini, A.; Guerrini, M.M.; Abinun, M.; Pangrazio, A.; Susani, L.; Bredius, R.; Mancini, G.; Cant, A.; Bishop, N. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

The dissection of human autosomal recessive osteopetrosis identifies an osteoclast-poor form due to RANKL deficiency

Cell Cycle
2007 | Journal article
EID:

2-s2.0-38149012018

Part of ISSN: 15514005 15384101
Contributors: Frattini, A.; Vezzoni, P.; Villa, A.; Sobacchi, C.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement

Journal of Bone and Mineral Research
2006 | Journal article
EID:

2-s2.0-33745507483

Part of ISSN: 08840431
Contributors: Pangrazio, A.; Poliani, P.L.; Megarbane, A.; Lefranc, G.; Lanino, E.; Di Rocco, M.; Rucci, F.; Lucchini, F.; Ravanini, M.; Facchetti, F. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Osteopetroses and immunodeficiencies in humans

Current Opinion in Allergy and Clinical Immunology
2006 | Journal article
EID:

2-s2.0-33750798325

Part of ISSN: 15284050 14736322
Contributors: Villa, A.; Vezzoni, P.; Frattini, A.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Polymorphisms of the CLCN7 gene are associated with BMD in women

Journal of Bone and Mineral Research
2005 | Journal article
EID:

2-s2.0-27444437671

Part of ISSN: 08840431
Contributors: Pettersson, U.; Albagha, O.M.E.; Mirolo, M.; Taranta, A.; Frattini, A.; McGuigan, F.E.A.; Vezzoni, P.; Teti, A.; Van Hul, W.; Reid, D.M. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Rescue of ATPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in utero

Proceedings of the National Academy of Sciences of the United States of America
2005 | Journal article
EID:

2-s2.0-26844488044

Part of ISSN: 00278424
Contributors: Frattini, A.; Blair, H.C.; Sacco, M.G.; Cerisoli, F.; Faggioli, F.; Catò, E.M.; Pangrazio, A.; Musio, A.; Rucci, F.; Sobacchi, C. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

The genetics of dominant osteopetroses

Drug Discovery Today: Disease Mechanisms
2005 | Journal article
EID:

2-s2.0-33645066097

Part of ISSN: 17406765
Contributors: Frattini, A.; Vezzoni, P.; Villa, A.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Vacuolar H<sup>+</sup>-ATPase d2 subunit: Molecular characterization, developmental regulation, and localization to specialized proton pumps in kidney and bone

Journal of the American Society of Nephrology
2005 | Journal article
EID:

2-s2.0-23944509836

Part of ISSN: 10466673
Contributors: Smith, A.N.; Jouret, F.; Bord, S.; Borthwick, K.J.; Al-Lamki, R.S.; Wagner, C.A.; Ireland, D.C.; Cormier-Daire, V.; Frattini, A.; Villa, A. et al.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Association between a Polymorphism Affecting an AP1 Binding Site in the Promoter of the TCIRG1 Gene and Bone Mass in Women

Calcified Tissue International
2004 | Journal article
EID:

2-s2.0-0842283935

Part of ISSN: 0171967X
Contributors: Sobacchi, C.; Vezzoni, P.; Reid, D.M.; McGuigan, F.E.A.; Frattini, A.; Mirolo, M.; Albagha, O.M.E.; Musio, A.; Villa, A.; Ralston, S.H.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Clinical vignette: Severe malignant osteopetrosis caused by a GL gene mutation

Journal of Bone and Mineral Research
2004 | Journal article
EID:

2-s2.0-16544384350

Part of ISSN: 08840431
Contributors: Quarello, P.; Forni, M.; Barberis, L.; Defilippi, C.; Campagnoli, M.F.; Silvestro, L.; Frattini, A.; Chalhoub, N.; Vacher, J.; Ramenghi, U.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier

Erratum: Chloride channel CICN7 mutations in a Korean patient with infantile malignant osteopetrosis initially presenting with neonatal thrombocytopenia (Journal of Perinatology (2004) vol. 24 (312-314) 10.1038/jp.7211081)

Journal of Perinatology
2004 | Journal article
EID:

2-s2.0-19344364410

Part of ISSN: 07438346
Contributors: Shin, Y.-J.; Park, S.E.; Shim, G.H.; Lee, J.A.; Kim, E.K.; Park, J.D.; Kim, B.I.; Choi, J.H.; Frattini, A.
Source: Self-asserted source
Annalisa Frattini via Scopus - Elsevier
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