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PARP inhibitors affect growth, survival and radiation susceptibility of human alveolar and embryonal rhabdomyosarcoma cell lines.
- Published in:
- Journal of Cancer Research & Clinical Oncology, 2019, v. 145, n. 1, p. 137, doi. 10.1007/s00432-018-2774-6
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- Publication type:
- Article
Pharmacological targeting of the ephrin receptor kinase signalling by GLPG1790 in vitro and in vivo reverts oncophenotype, induces myogenic differentiation and radiosensitizes embryonal rhabdomyosarcoma cells.
- Published in:
- Journal of Hematology & Oncology, 2017, v. 10, p. 1, doi. 10.1186/s13045-017-0530-z
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- Publication type:
- Article
Hyperechogenic fetal bowel: Current evidence‐based prenatal diagnosis and management.
- Published in:
- Journal of Clinical Ultrasound, 2023, v. 51, n. 7, p. 1172, doi. 10.1002/jcu.23528
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- Publication type:
- Article
Echocardiographic features and outcome of restrictive foramen ovale in fetuses with and without cardiac malformations: Literature review.
- Published in:
- Journal of Clinical Ultrasound, 2023, v. 51, n. 2, p. 240, doi. 10.1002/jcu.23304
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- Publication type:
- Article
Fetal dacryocystocele: A pitfall in the third‐trimester prenatal diagnosis of cleft lip.
- Published in:
- Journal of Clinical Ultrasound, 2021, v. 49, n. 7, p. 777, doi. 10.1002/jcu.23023
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- Publication type:
- Article
Fetal tongue posture associated with micrognathia: An ultrasound marker of cleft secondary palate?
- Published in:
- 2020
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- Publication type:
- Case Study
Prenatal diagnosis of proximal focal femoral deficiency: Literature review of prenatal sonographic findings.
- Published in:
- 2016
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- Publication type:
- journal article
Midtrimester isolated short femur and perinatal outcomes: A systematic review and meta-analysis.
- Published in:
- 2019
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- Publication type:
- journal article
Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy.
- Published in:
- Epilepsia (Series 4), 2009, v. 50, n. 5, p. 1284, doi. 10.1111/j.1528-1167.2008.01976.x
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- Publication type:
- Article
Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 9, p. 3003, doi. 10.3390/jcm9093003
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- Publication type:
- Article
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co‐inheritance.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1336
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- Publication type:
- Article
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformation.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1054
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- Publication type:
- Article
Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1101, doi. 10.1002/ajmg.a.63112
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- Publication type:
- Article
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2‐opathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1509, doi. 10.1002/ajmg.a.62111
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- Publication type:
- Article
12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2133, doi. 10.1002/ajmg.a.61734
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- Publication type:
- Article
A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 508, doi. 10.1002/ajmg.a.61431
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- Publication type:
- Article
Novel SMAD4 mutation causing Myhre syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1835, doi. 10.1002/ajmg.a.36544
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- Publication type:
- Article
Additional lesions identified by genomic microarrays are associated with an inferior outcome in low‐risk chronic lymphocytic leukaemia patients.
- Published in:
- British Journal of Haematology, 2023, v. 202, n. 5, p. 953, doi. 10.1111/bjh.18946
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- Publication type:
- Article
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
- Published in:
- Nature Genetics, 2015, v. 47, n. 6, p. 661, doi. 10.1038/ng.3282
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- Publication type:
- Article
Pregnant women's knowledge and behaviour to prevent cytomegalovirus infection: an observational study.
- Published in:
- Journal of Perinatal Medicine, 2021, v. 49, n. 3, p. 327, doi. 10.1515/jpm-2020-0301
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- Publication type:
- Article
An observational study to assess Italian obstetrics providers' knowledge about preventive practices and diagnosis of congenital cytomegalovirus.
- Published in:
- Journal of Perinatal Medicine, 2021, v. 49, n. 1, p. 67, doi. 10.1515/jpm-2020-0224
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- Publication type:
- Article
Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular Findings.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.648588
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- Publication type:
- Article
Brain Derived Neurotrophic Factor (BDNF) Expression Is Regulated by MicroRNAs miR-26a and miR-26b Allele-Specific Binding.
- Published in:
- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0028656
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- Publication type:
- Article
Synergistic Post-Transcriptional Regulation of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) by miR-101 and miR-494 Specific Binding.
- Published in:
- PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0026601
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- Publication type:
- Article
Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease.
- Published in:
- Neurodegenerative Diseases, 2019, v. 19, n. 2, p. 96, doi. 10.1159/000502906
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- Publication type:
- Article
The Q121 PC-1 Variant and Obesity Have Additive and Independent Effects in Causing Insulin Resistance.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 12, p. 5888, doi. 10.1210/jcem.86.12.8108
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- Publication type:
- Article
Cytotoxic T-lymphocyte antigen 4 ( CTLA4) +49AG and CT60 gene polymorphisms in Alopecia Areata: a case-control association study in the Italian population.
- Published in:
- Archives of Dermatological Research, 2013, v. 305, n. 7, p. 665, doi. 10.1007/s00403-013-1348-3
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- Publication type:
- Article
Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11.
- Published in:
- Human Genetics, 2002, v. 111, n. 4/5, p. 401, doi. 10.1007/s00439-002-0785-4
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- Publication type:
- Article
Cytogenetic mapping of a novel locus for type II Waardenburg syndrome.
- Published in:
- Human Genetics, 2002, v. 110, n. 1, p. 64, doi. 10.1007/s00439-001-0643-9
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- Publication type:
- Article
Neuroimaging and Cerebrovascular Changes in Fetuses with Complex Congenital Heart Disease.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 22, p. 6740, doi. 10.3390/jcm11226740
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- Publication type:
- Article
OTX015 Epi-Drug Exerts Antitumor Effects in Ovarian Cancer Cells by Blocking GNL3-Mediated Radioresistance Mechanisms: Cellular, Molecular and Computational Evidence.
- Published in:
- Cancers, 2021, v. 13, n. 7, p. 1519, doi. 10.3390/cancers13071519
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- Publication type:
- Article
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1069, doi. 10.1038/sj.ejhg.5201290
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- Publication type:
- Article
DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 4, p. 349, doi. 10.1038/sj.ejhg.5200956
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- Publication type:
- Article
Additive Effects of Genetic Variation in Dopamine Regulating Genes on Working Memory Cortical Activity in Human Brain.
- Published in:
- Journal of Neuroscience, 2006, v. 26, n. 15, p. 3918, doi. 10.1523/JNEUROSCI.4975-05.2006
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- Publication type:
- Article
Human Fetal Adrenal Medulla for Transplantation in Parkinsonian Patients.
- Published in:
- Annals of the New York Academy of Sciences, 1987, v. 495, n. 1, p. 771, doi. 10.1111/j.1749-6632.1987.tb23735.x
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- Publication type:
- Article
HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing.
- Published in:
- Journal of Biomedical Science, 2012, v. 19, n. 1, p. 88, doi. 10.1186/1423-0127-19-88
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- Publication type:
- Article
LA SCHEDA DI RILEVAZIONE E IL SOFTWARE PER LA RACCOLTA DEI DATI.
- Published in:
- Giornale Italiano di Medicina del Lavoro ed Ergonomia, 2022, v. 44, n. 2, p. 125
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- Publication type:
- Article
Il progetto MAREL: la rete di ambulatori specialistici di Medicina del Lavoro per il monitoraggio delle malattie e dei rischi emergenti sul lavoro.
- Published in:
- Giornale Italiano di Medicina del Lavoro ed Ergonomia, 2016, v. 38, n. 3, p. 253
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- Publication type:
- Article
Identification of a novel RUNX2 gene mutation and early diagnosis of CCD in a cleidocranial dysplasia suspected Iranian family.
- Published in:
- Clinical Case Reports, 2020, v. 8, n. 12, p. 2333, doi. 10.1002/ccr3.2825
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- Publication type:
- Article
An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene.
- Published in:
- Clinical Case Reports, 2020, v. 8, n. 8, p. 1445, doi. 10.1002/ccr3.2881
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- Publication type:
- Article
miR-125b/NRF2/HO-1 axis is involved in protection against oxidative stress of cystic fibrosis: A pilot study.
- Published in:
- Experimental & Therapeutic Medicine, 2021, v. 21, n. 6, p. N.PAG, doi. 10.3892/etm.2021.10017
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- Publication type:
- Article
Susceptibility to ischaemic heart disease: Focusing on genetic variants for ATP-sensitive potassiumchannel beyond traditional risk factors.
- Published in:
- European Journal of Preventive Cardiology, 2021, v. 28, n. 13, p. 1495, doi. 10.1177/2047487320926780
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- Publication type:
- Article
A novel c.952T>C mutation in Notch3 gene in a patient with chronic non‐migraine‐like headache: Expanding the genotypic spectrum of CADASIL?
- Published in:
- Clinical Genetics, 2022, v. 102, n. 1, p. 82, doi. 10.1111/cge.14137
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- Publication type:
- Article
Crizotinib-induced antitumour activity in human alveolar rhabdomyosarcoma cells is not solely dependent on ALK and MET inhibition.
- Published in:
- Journal of Experimental & Clinical Cancer Research (17569966), 2015, v. 34, n. 1, p. 1, doi. 10.1186/s13046-015-0228-4
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- Publication type:
- Article
External hydrocephalus as a prenatal feature of noonan syndrome.
- Published in:
- Annals of Human Genetics, 2021, v. 85, n. 6, p. 249, doi. 10.1111/ahg.12436
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- Publication type:
- Article
Epilepsy with auditory features: A LGI1 gene mutation suggests a loss-of-function mechanism.
- Published in:
- Annals of Neurology, 2003, v. 53, n. 3, p. 396
- By:
- Publication type:
- Article
Lack of association between serotonin transporter 5-HTT gene polymorphism and endometriosis in an Italian patient population.
- Published in:
- Journal of Negative Results in Biomedicine, 2014, v. 13, n. 1, p. 1, doi. 10.1186/1477-5751-13-12
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- Publication type:
- Article
Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 11, p. 2657, doi. 10.1007/s00415-019-09466-y
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- Publication type:
- Article
Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-020-79827-5
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- Publication type:
- Article