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¿Es eficaz el tratamiento con hidroxicloroquina en el déficit de proteína C surfactante?

Translated title of the contribution: Is Treatment With Hydroxychloroquine Effective in Surfactant Protein C Deficiency?Rabach, I., Poli, F., Zennaro, F., Germani, C., Ventura, A. & Barbi, E., May 2013, In : Archivos de Bronconeumologia. 49, 5, p. 213-215 3 p.

Research output: Contribution to journalArticle

Protein C Deficiency
Hydroxychloroquine
Surface-Active Agents
Thorax
Growth

... And if this was a Zinner's syndrome?

Silveri, M., Zaccara, A., Colajacomo, M., Matarazzo, E., Diomedi Camassei, F. & De Gennaro, M., 2014, In : Journal of Pediatric Surgery Case Reports. 2, 12, p. 530-532 3 p.

Research output: Contribution to journalArticle

Seminal Vesicles
Cysts
Ejaculatory Ducts
Surgical Pathology
Urinary Retention

...Com'è vero che spesso basta l'anamnesi!

Translated title of the contribution: Unforgettable cases in pediatric general practice: ... how true what is often enough anamnesis!De Cunto, A. & Patarino, F., Jun 30 2007, In : Medico e Bambino. 26, 6, p. 392 1 p.

Research output: Contribution to journalArticle

«A qual fine vero e proprio debba rispondere la ginnastica nelle scuole». Emilio Baumann e la manualistica ad uso dei maestri elementari all'indomani della legge De Sanctis

Translated title of the contribution: «About the real purpose of physical education in schools». Emilio Baumann and handbooks to be used by primary school teachers after de Sanctis' LawAlfieri, P., 2013, In : History of Education and Children's Literature. 8, 2, p. 195-220 26 p.

Research output: Contribution to journalArticle

primary school teacher
physical education
Law
school
teacher

(CTG)n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients

Novelli, G., Gennarelli, M., Menegazzo, E., Mostacciuolo, M. L., Pizzuti, A., Fattorini, C., Tessarolo, D., Tomelleri, G., Giacanelli, M., Danieli, G. A., Rizzuto, N., Caskey, C. T., Angelini, C. & Dallapiccola, B., Aug 1993, In : Biochemical Medicine and Metabolic Biology. 50, 1, p. 85-92 8 p.

Research output: Contribution to journalArticle

Myotonic Dystrophy
3' Untranslated Regions
Amplification
Genes
Phenotype

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome

Mussa, A., Russo, S., De Crescenzo, A., Freschi, A., Calzari, L., Maitz, S., Macchiaiolo, M., Molinatto, C., Baldassarre, G., Mariani, M., Tarani, L., Bedeschi, M. F., Milani, D., Melis, D., Bartuli, A., Vittoria Cubellis, M., Selicorni, A., Cirillo Silengo, M., Larizza, L., Riccio, A. & 1 others, Ferrero, G. B., Feb 1 2016, In : European Journal of Human Genetics. 24, 2, p. 183-190 8 p.

Research output: Contribution to journalArticle

Beckwith-Wiedemann Syndrome
Genetic Association Studies
Methylation
Cyclin-Dependent Kinase Inhibitor p57
Macroglossia

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome

Mussa, A., Russo, S., De Crescenzo, A., Freschi, A., Calzari, L., Maitz, S., Macchiaiolo, M., Molinatto, C., Baldassarre, G., Mariani, M., Tarani, L., Bedeschi, M. F., Milani, D., Melis, D., Bartuli, A., Cubellis, M. V., Selicorni, A., Cirillo Silengo, M., Larizza, L., Riccio, A. & 1 others, Ferrero, G. B., Feb 1 2016, In : European Journal of Human Genetics. 24, 2, p. 183-190 8 p.

Research output: Contribution to journalArticle

Beckwith-Wiedemann Syndrome
Genetic Association Studies
Methylation
Cyclin-Dependent Kinase Inhibitor p57
Macroglossia

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome

Mussa, A., Russo, S., De Crescenzo, A., Freschi, A., Calzari, L., Maitz, S., Macchiaiolo, M., Molinatto, C., Baldassarre, G., Mariani, M., Tarani, L., Bedeschi, M. F., Milani, D., Melis, D., Bartuli, A., Vittoria Cubellis, M., Selicorni, A., Cirillo Silengo, M., Larizza, L., Riccio, A. & 1 others, Ferrero, G. B., Feb 1 2016, In : European Journal of Human Genetics. 24, 2, p. 183-190 8 p.

Research output: Contribution to journalArticle

Beckwith-Wiedemann Syndrome
Genetic Association Studies
Methylation
Cyclin-Dependent Kinase Inhibitor p57
Macroglossia

(Medico E Bambino (2007) 26, (580-585))

L'Erario, I., Di Benedetto, A., Bua, J., Norbedo, S., Barbi, E. & Marchetti, F., Dec 31 2007, In : Medico e Bambino. 26, 10, p. 644 1 p.

Research output: Contribution to journalArticle

(R)evolution in the Management of Acute Kidney Injury in Newborns

Ronco, C., Ricci, Z. & Goldstein, S. L., Aug 1 2015, In : American Journal of Kidney Diseases. 66, 2, p. 206-211 6 p.

Research output: Contribution to journalArticle

Acute Kidney Injury
Renal Replacement Therapy
Newborn Infant
Dialysis
Hemofiltration

(TA)8 allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome

Iolascon, A., Faienza, M. F., Centra, M., Storelli, S., Zelante, L. & Savoia, A., 1999, In : Haematologica. 84, 2, p. 106-109 4 p.

Research output: Contribution to journalArticle

Gilbert Disease
Thymine
Adenine
Alleles
Genes

[131I]metaiodobenzylguanidine therapy in advanced neuroblastoma

Claudiani, F., Garaventa, A., Bertolazzi, L., Villavecchia, G. P., Cabria, M., Scopinaro, G., Bestagno, M., Guerra, P., Canevarollo, N., Scielzo, G., Lanino, E. & De Bernardi, B., 1991, In : Journal of nuclear biology and medicine (Turin, Italy : 1991). 35, 4, p. 224-227 4 p.

Research output: Contribution to journalArticle

[Assistenza cardiocircolatoria. (Cardio-circulatory care)].

Cogo, P. E., Jun 2010, In : Minerva Pediatrica. 62, 3 Suppl 1, p. 137-139 3 p.

Research output: Contribution to journalArticle

Shock
Resuscitation
Pediatrics
Therapeutics
Neonatal Intensive Care

{A figure is presented}Pain in Chronic Pancreatitis: The Role of Reorganization in the Central Nervous System

Dimcevski, G., Sami, S. A. K., Funch-Jensen, P., Le Pera, D., Valeriani, M., Arendt-Nielsen, L. & Drewes, A. M., Apr 2007, In : Gastroenterology. 132, 4, p. 1546-1556 11 p.

Research output: Contribution to journalArticle

Chronic Pancreatitis
Central Nervous System
Pain
Evoked Potentials
Healthy Volunteers

1,25-Dihydroxyvitamin D3 and phorbol esters (TPA) may induce select in vitro differentiation pathways in the HL60 promyelocytic cell line

Rossi, P., Chini, L., Fattorossi, A., Gidlund, M., Galli, E., Laan, K., Jondal, M. & Wigzell, H., 1987, In : Clinical Immunology and Immunopathology. 44, 3, p. 308-316 9 p.

Research output: Contribution to journalArticle

Calcitriol
HL-60 Cells
Phorbol Esters
Tetradecanoylphorbol Acetate
HLA-DR Antigens

1000 Genomes-based metaanalysis identifies 10 novel loci for kidney function

Gorski, M., Van Der Most, P. J., Teumer, A., Chu, A. Y., Li, M., Mijatovic, V., Nolte, I. M., Cocca, M., Taliun, D., Gomez, F., Li, Y., Tayo, B., Tin, A., Feitosa, M. F., Aspelund, T., Attia, J., Biffar, R., Bochud, M., Boerwinkle, E., Borecki, I. & 106 others, Bottinger, E. P., Chen, M. H., Chouraki, V., Ciullo, M., Coresh, J., Cornelis, M. C., Curhan, G. C., D'Adamo, A. P., Dehghan, A., Dengler, L., Ding, J., Eiriksdottir, G., Endlich, K., Enroth, S., Esko, T., Franco, O. H., Gasparini, P., Gieger, C., Girotto, G., Gottesman, O., Gudnason, V., Gyllensten, U., Hancock, S. J., Harris, T. B., Helmer, C., Höllerer, S., Hofer, E., Hofman, A., Holliday, E. G., Homuth, G., Hu, F. B., Huth, C., Hutri-Kähönen, N., Hwang, S. J., Imboden, M., Johansson, A., Kähönen, M., König, W., Kramer, H., Krämer, B. K., Kumar, A., Kutalik, Z., Lambert, J. C., Launer, L. J., Lehtimäki, T., De Borst, M. H., Navis, G., Swertz, M., Liu, Y., Lohman, K., Loos, R. J. F., Lu, Y., Lyytikäinen, L. P., McEvoy, M. A., Meisinger, C., Meitinger, T., Metspalu, A., Metzger, M., Mihailov, E., Mitchell, P., Nauck, M., Oldehinkel, A. J., Olden, M., Penninx, B. W. J. H., Pistis, G., Pramstaller, P. P., Probst-Hensch, N., Raitakari, O. T., Rettig, R., Ridker, P. M., Rivadeneira, F., Robino, A., Rosas, S. E., Ruderfer, D., Ruggiero, D., Saba, Y., Sala, C., Schmidt, H., Schmidt, R., Scott, R. J., Sedaghat, S., Smith, A. V., Sorice, R., Stengel, B., Stracke, S., Strauch, K., Toniolo, D., Uitterlinden, A. G., Ulivi, S., Viikari, J. S., Völker, U., Vollenweider, P., Völzke, H., Vuckovic, D., Waldenberger, M., Wang, J. J., Yang, Q., Chasman, D. I., Tromp, G., Snieder, H., Heid, I. M., Fox, C. S., Köttgen, A., Pattaro, C., Böger, C. A. & Fuchsberger, C., Jan 1 2017, In : Scientific Reports. 7, 45040.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Genome
HapMap Project
Kidney
Heart Septum

1000 Genomes-based metaanalysis identifies 10 novel loci for kidney function

Gorski, M., Van Der Most, P. J., Teumer, A., Chu, A. Y., Li, M., Mijatovic, V., Nolte, I. M., Cocca, M., Taliun, D., Gomez, F., Li, Y., Tayo, B., Tin, A., Feitosa, M. F., Aspelund, T., Attia, J., Biffar, R., Bochud, M., Boerwinkle, E., Borecki, I. & 31 others, Bottinger, E. P., Chen, M-H., Chouraki, V., Ciullo, M., Coresh, J., Cornelis, M. C., Curhan, G. C., D'Adamo, A. P., Dehghan, A., Dengler, L., Ding, J., Eiriksdottir, G., Endlich, K., Enroth, S., Esko, T., Franco, O. H., Gasparini, P., Gieger, C., Girotto, G., Gottesman, O., Gudnason, V., Gyllensten, U., Hancock, S. J., Harris, T. B., Helmer, C., Robino, A., Ruggiero, D., Sala, C., Toniolo, D., Ulivi, S. & Gasparini, P., 2017, In : Scientific Reports. 7

Research output: Contribution to journalArticle

100 PT/YR pediatric home parenteral nutrition experience

Candusso, M., Giglio, L. & Faraguna, D., 1997, In : Transplantation Proceedings. 29, 3, p. 1864-1865 2 p.

Research output: Contribution to journalArticle

106Ruthenium brachytherapy for ciliary recurrence with supraciliary effusion in retinoblastoma

Chhablani, J., Romanzo, A., Balmer, A., Pica, A., Gaillard, M. C., Cozza, R., Moeckli, R. & Munier, F. L., Dec 2010, In : Ophthalmic Genetics. 31, 4, p. 190-192 3 p.

Research output: Contribution to journalArticle

Retinoblastoma
Brachytherapy
Acoustic Microscopy
Recurrence
Ciliary Body

1070 myeloablative megatherapy procedures followed by stem cell rescue for neuroblastoma: 17 years of european experience and conclusions

Philip, T., Ladenstein, R., Lasset, C., Hartmann, O., Zucker, J. M., Pinkerton, R., Pearson, A. D. J., Klingebiel, T., Garaventa, A., Kremens, B., Bernard, J. L., Rosti, G. & Chauvin, F., Oct 1997, In : European Journal of Cancer. 33, 12, p. 2130-2135 6 p.

Research output: Contribution to journalArticle

Neuroblastoma
Survivors
Stem Cells
Bone Marrow
Transplants

111 Renal neoplasms of childhood: A clinicopathologic study

Jenkner, A., Camassei, F. D., Boldrini, R., De Sio, L., Rava, L., Bosman, C., Boglino, C. & Donfrancesco, A., 2001, In : Journal of Pediatric Surgery. 36, 10, p. 1522-1527 6 p.

Research output: Contribution to journalArticle

Kidney Neoplasms
Wilms Tumor
Survival Rate
Neoplasms
Mesoblastic Nephroma

118th ENMC international workshop on advances in myotubular myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th workshop of the international consortium on myotubular myopathy)

Bertini, E., Biancalana, V., Bolino, A., Buj Bello, A., Clague, M., Guicheney, P., Jungbluth, H., Kress, W., Musaro', A., Nandurkar, H., Pirola, L., Romero, N., Senderek, J., Suter, U., Sewry, C., Tronchere, H., Wallgren-Pettersson, C., Wishart, M. J. & Laporte, J., Jun 2004, In : Neuromuscular Disorders. 14, 6, p. 387-396 10 p.

Research output: Contribution to journalArticle

131I-metaiodobenzylguanidine (131I-MIBG) therapy for residual neuroblastoma: A mono-institutional experience with 43 patients

Garaventa, A., Bellagamba, O., Lo Piccolo, M. S., Milanaccio, C., Lanino, E., Bertolazzi, L., Villavecchia, G. P., Cabria, M., Scopinaro, G., Claudiani, F. & De Bernardi, B., 1999, In : British Journal of Cancer. 81, 8, p. 1378-1384 7 p.

Research output: Contribution to journalArticle

Neuroblastoma
Therapeutics
Interstitial Lung Diseases
Acute Myeloid Leukemia
Thrombocytopenia

134th ENMC international workshop: Outcome measures and treatment of spinal muscular atrophy 11-13 February 2005 Naarden, the Netherlands

Bertini, E., Burghes, A., Bushby, K., Estournet-Mathiaud, B., Finkel, R. S., Hughes, R. A. C., Iannaccone, S. T., Melki, J., Mercuri, E., Muntoni, F., Voit, T., Reitter, B., Swoboda, K. J., Tiziano, D., Tizzano, E., Topaloglu, H., Wirth, B. & Zerres, K., Nov 2005, In : Neuromuscular Disorders. 15, 11, p. 802-816 15 p.

Research output: Contribution to journalArticle

13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.

Ballarati, L., Rossi, E., Bonati, M. T., Gimelli, S., Maraschio, P., Finelli, P., Giglio, S., Lapi, E., Bedeschi, M. F., Guerneri, S., Arrigo, G., Patricelli, M. G., Mattina, T., Guzzardi, O., Pecile, V., Police, A., Scarano, G., Larizza, L., Zuffardi, O. & Giardino, D., Jan 2007, In : Journal of Medical Genetics. 44, 1

Research output: Contribution to journalArticle

Nervous System Malformations
Karyotype
Central Nervous System
Phenotype
Neural Tube Defects

13-valent pneumococcal conjugate vaccine (PCV13) is immunogenic and safe in children 6-17 years of age with sickle cell disease previously vaccinated with 23-valent pneumococcal polysaccharide vaccine (PPSV23): Results of a phase 3 study

De Montalembert, M., Abboud, M. R., Fiquet, A., Inati, A., Lebensburger, J. D., Kaddah, N., Mokhtar, G., Piga, A., Halasa, N., Inusa, B., Rees, D. C., Heath, P. T., Telfer, P., Driscoll, C., Al Hajjar, S., Tozzi, A., Jiang, Q., Emini, E. A., Gruber, W. C., Gurtman, A. & 1 others, Scott, D. A., Aug 1 2015, In : Pediatric Blood and Cancer. 62, 8, p. 1427-1436 10 p.

Research output: Contribution to journalArticle

Conjugate Vaccines
Pneumococcal Vaccines
Sickle Cell Anemia
Vaccination
Immunoglobulin G

14 Cases of cavernous degeneration of the optic nerve

Giarelli, L., Melato, M. & Campos, E., 1977, In : Ophthalmologica. 174, 6, p. 316-321 6 p.

Research output: Contribution to journalArticle

Optic Nerve
Myopia
Glaucoma
Autopsy
Ischemia

14q12 duplication including FOXG1: Is there a common age-dependent epileptic phenotype?

Bertossi, C., Cassina, M., De Palma, L., Vecchi, M., Rossato, S., Toldo, I., Donà, M., Murgia, A., Boniver, C. & Sartori, S., 2014, In : Brain and Development. 36, 5, p. 402-407 6 p.

Research output: Contribution to journalArticle

Infantile Spasms
Seizures
Phenotype
Electroencephalography
Age of Onset

162 Donne gravide HIV-1 positive e la trasmissione verticale del virus: Risultati di uno studio prospettico

Translated title of the contribution: 162 HIV-1 infected pregnant women and vertical transmission: Results of a prospective studyFerrero, S., Gotta, C., Melica, G., Biasotti, B., Ravera, G. & Bentivoglio, G., Oct 2002, In : Minerva Ginecologica. 54, 5, p. 373-385 13 p.

Research output: Contribution to journalArticle

HIV-1
Pregnant Women
HIV
Prospective Studies
Mothers

16p subtelomeric duplication: A clinically recognizable syndrome

Digilio, M. C., Bernardini, L., Capalbo, A., Capolino, R., Gagliardi, M. G., Marino, B., Novelli, A. & Dallapiccola, B., 2009, In : European Journal of Human Genetics. 17, 9, p. 1135-1140 6 p.

Research output: Contribution to journalArticle

Blood Vessels
Chromosomes
Fluorescence In Situ Hybridization
Pulmonary Hypertension
Blepharophimosis

17PH+ IN NOVE SOGGETTI CON VARI FENOTIPI

Translated title of the contribution: Evidence of 17 ph+ in nine individuals with various phenotypesGimelli, G., Cuoco, C., Bignone, F. A. & Penna, R., 1980, In : Gaslini. 12, 2, p. 203-206 4 p.

Research output: Contribution to journalArticle

Chromosomes, Human, Pair 17
Phenotype
Chromosomes
Calcium Gluconate
Azoospermia

17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome

Bernardo, P., Madia, F., Santulli, L., Del Gaudio, L., Caccavale, C., Zara, F., Traverso, M., Cirillo, M., Striano, S. & Coppola, A., 2016, (Accepted/In press) In : Brain and Development.

Research output: Contribution to journalArticle

Intellectual Disability
Epilepsy
Comparative Genomic Hybridization
Psychological Adaptation
Cytogenetics

17-β-estradiol elicits genomic and non-genomic responses in mouse male germ cells

Vicini, E., Loiarro, M., Di Agostino, S., Corallini, S., Capolunghi, F., Carsetti, R., Chieffi, P., Geremia, R., Stefanini, M. & Sette, C., Jan 2006, In : Journal of Cellular Physiology. 206, 1, p. 238-245 8 p.

Research output: Contribution to journalArticle

Germ Cells
Estrogen Receptors
Estradiol
Estrogens
Cells

180-kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: Report of four cases with an unusually mild phenotype

Mazzanti, C., Gobello, T., Posteraro, P., Paradisi, M., Meneguzzi, G., Chinni, L. & Zambruno, G., 1998, In : British Journal of Dermatology. 138, 5, p. 859-866 8 p.

Research output: Contribution to journalArticle

Junctional Epidermolysis Bullosa
Bullous Pemphigoid
Phenotype
Antigens
Alopecia

18F-DOPA PET/CT for assessment of response to induction chemotherapy in a child with high-risk neuroblastoma

Piccardo, A., Lopci, E., Foppiani, L., Morana, G. & Conte, M., 2014, In : Pediatric Radiology. 44, 3, p. 355-361 7 p.

Research output: Contribution to journalArticle

Induction Chemotherapy
Neuroblastoma
3-Iodobenzylguanidine
Radiopharmaceuticals
Neoplasms

18F-DOPA PET/CT in neuroblastoma: Comparison of conventional imaging with CT/MR

Lopci, E., Piccardo, A., Nanni, C., Altrinetti, V., Garaventa, A., Pession, A., Cistaro, A., Chiti, A., Villavecchia, G. & Fanti, S., Apr 2012, In : Clinical Nuclear Medicine. 37, 4

Research output: Contribution to journalArticle

Neuroblastoma
Sensitivity and Specificity
3-Iodobenzylguanidine
Biopsy

18F-DOPA Uptake of Developmental Venous Anomalies in Children With Brain Tumors

Morana, G., Piccardo, A., Garrè, M. L., Cabria, M. & Rossi, A., Feb 24 2016, (Accepted/In press) In : Clinical Nuclear Medicine.

Research output: Contribution to journalArticle

Brain Neoplasms
Dihydroxyphenylalanine
Blood Vessels
Nuclear Medicine
Neuroimaging

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

Trimouille, A., Houcinat, N., Vuillaume, M. L., Fergelot, P., Fergelot, P., Boucher, C., Toutain, J., Caignec, C. L., Vincent, M., Nizon, M., Andrieux, J., Vanlerberghe, C., Delobel, B., Duban, B., Mansour, S., Baple, E., McKeown, C., Poke, G., Robertshaw, K., Fifield, E. & 12 others, Fabretto, A., Pecile, V., Gasparini, P., Gasparini, P., Carrozzi, M., Lacombe, D., Lacombe, D., Arveiler, B., Arveiler, B., Rooryck, C., Rooryck, C. & Moutton, S., Jan 1 2018, In : European Journal of Human Genetics. 26, 1, p. 85-93 9 p.

Research output: Contribution to journalArticle

Sotos Syndrome
Intellectual Disability
Head
Phenotype
Chromosome Duplication

19q13.11 cryptic deletion: Description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias

Gana, S., Veggiotti, P., Sciacca, G., Fedeli, C., Bersano, A., Micieli, G., Maghnie, M., Ciccone, R., Rossi, E., Plunkett, K., Bi, W., Sutton, V. R. & Zuffardi, O., Aug 2012, In : European Journal of Human Genetics. 20, 8, p. 852-856 5 p.

Research output: Contribution to journalArticle

Haploinsufficiency
Hypospadias
Wilms Tumor
Zinc Fingers
Genes

19q13 microdeletion syndrome: Further refining the critical region

Forzano, F., Napoli, F., Uliana, V., Malacarne, M., Viaggi, C., Bloise, R., Coviello, D., Di Maria, E., Olivieri, I., Di Iorgi, N. & Faravelli, F., 2012, In : European Journal of Medical Genetics. 55, 6-7, p. 429-432 4 p.

Research output: Contribution to journalArticle

Microcephaly
Chromosome Deletion
Pituitary Hormones
Intellectual Disability
Growth

1H-MR spectroscopy indicates prominent cerebellar dysfunction in benign adult familial myoclonic epilepsy

Striano, P., Caranci, F., Di Benedetto, R., Tortora, F., Zara, F. & Striano, S., Jun 2009, In : Epilepsia. 50, 6, p. 1491-1497 7 p.

Research output: Contribution to journalArticle

Myoclonic Epilepsy
Cerebellar Diseases
Magnetic Resonance Spectroscopy
Healthy Volunteers
Choline

1-Hour plasma glucose in obese youth

Manco, M., Miraglia Del Giudice, E., Spreghini, M. R., Cappa, M., Perrone, L., Brufani, C., Rustico, C., Morino, G. & Caprio, S., 2012, In : Acta Diabetologica. 49, 6, p. 435-443 9 p.

Research output: Contribution to journalArticle

Glucose Intolerance
Glucose
Glucose Tolerance Test
ROC Curve
Area Under Curve

1p13.2 deletion displays clinical features overlapping noonan syndrome, likely related to NRAS gene haploinsufficiency

Linhares, N. D., Freire, M. C. M., Cardenas, R. G. C. D. C. L., Pena, H. B., Lachlan, K., Dallapiccola, B., Bacino, C., Delobel, B., James, P., Thuresson, A. C., Annerén, G. & Pena, S. D. J., Jul 1 2016, In : Genetics and Molecular Biology. 39, 3, p. 349-357 9 p.

Research output: Contribution to journalArticle

Noonan Syndrome
Haploinsufficiency
Genes
Exome
Mutation

1q44-qter trisomy: clinical report and review of the literature.

Lenzini, E., Ballarati, L., Drigo, P., Carrozzi, M., Gambel-Benussi, D., Giardino, D., Petix, V., Rizzotto, M. R. & Pecile, V., Feb 2009, In : Genetic Testing and Molecular Biomarkers. 13, 1, p. 79-86 8 p.

Research output: Contribution to journalArticle

Trisomy
Monosomy
Intellectual Disability
Cytogenetics
Mothers

2,3 difosfoglicerato nel neonato pretermine

Translated title of the contribution: 2,3 dyphosphoglycerate in the prêterai newbornScopesi, F., Arioni, C., Canini, S., Lantieri, P., Mazzella, M. & Serra, G., 2000, In : Acta Biomedica. 71, SUPPL. 1, p. 621-626 6 p.

Research output: Contribution to journalArticle

Newborn Infant
Oxygen
Fetal Hemoglobin
Hematocrit
Hemoglobins

2-(Dialkylamino)-4H-1-benzopyran-4-one derivatives modify chloride conductance in CFTR expressing cells

Mazzei, M., Nieddu, E., Folli, C., Caci, E. & Galietta, L. V. J., Sep 1 2003, In : Farmaco. 58, 9, p. 961-970 10 p.

Research output: Contribution to journalArticle

Cystic Fibrosis Transmembrane Conductance Regulator
Chlorides
Apigenin
Iodides
Thyroid Gland

2% Ibopamine vs 10% isonefrine eye drops in open angle glaucoma: Effect on intraocular pressure and central differential light sensitivity

Campagna, P., Giordano, G., Venzano, D., Capris, P., Rolando, M. & Calabria, G., 1992, In : New Trends in Ophthalmology. 7, 2, p. 135-137 3 p.

Research output: Contribution to journalArticle

2005 PRETEXT: A revised staging system for primary malignant liver tumours of childhood developed by the SIOPEL group

Roebuck, D. J., Aronson, D., Clapuyt, P., Czauderna, P., de Ville Goyet, J., Gauthier, F., MacKinlay, G., Maibach, R., McHugh, K., Olsen, Ø. E., Otte, J. B., Pariente, D., Plaschkes, J., Childs, M. & Perilongo, G., Feb 2007, In : Pediatric Radiology. 37, 2, p. 123-132 10 p.

Research output: Contribution to journalArticle

Liver
Radiology
Neoplasms

2011 American College of Rheumatology recommendations for the treatment of juvenile idiopathic arthritis: initiation and safety monitoring of therapeutic agents for the treatment of arthritis and systemic features.

Beukelman, T., Patkar, N. M., Saag, K. G., Tolleson-Rinehart, S., Cron, R. Q., DeWitt, E. M., Ilowite, N. T., Kimura, Y., Laxer, R. M., Lovell, D. J., Martini, A., Rabinovich, C. E. & Ruperto, N., Apr 2011, In : Arthritis Care and Research. 63, 4, p. 465-482 18 p.

Research output: Contribution to journalArticle

2011 SOSORT guidelines: Orthopaedic and Rehabilitation treatment of idiopathic scoliosis during growth

Negrini, S., Aulisa, A. G., Aulisa, L., Circo, A. B., de Mauroy, J. C., Durmala, J., Grivas, T. B., Knott, P., Kotwicki, T., Maruyama, T., Minozzi, S., O'Brien, J. P., Papadopoulos, D., Rigo, M., Rivard, C. H., Romano, M., Wynne, J. H., Villagrasa, M., Weiss, H. R. & Zaina, F., Jan 20 2012, In : Scoliosis. 7, 1, 3.

Research output: Contribution to journalArticle

Scoliosis
Orthopedics
Rehabilitation
Guidelines
Growth