Search Results - "Papi L"

Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16.

Authors: Malvagia, S. Papi, L. Morrone, A. et al.

Source: Annals of Human Genetics. Nov2007, Vol. 71 Issue 6, p705-712. 8p. 2 Diagrams, 1 Graph.

Entomotoxicology in burnt bodies: a case of maternal filicide-suicide by fire.

Authors: Bugelli, V. Papi, L. Fornaro, S. et al.

Source: International Journal of Legal Medicine. Sep2017, Vol. 131 Issue 5, p1299-1306. 8p.

Creation of an international registry to support discovery in schwannomatosis.

Authors: Ostrow, K. L. Bergner, A. L. Blakeley, J. et al.

Source: American Journal of Medical Genetics. Part A; Feb2017, Vol. 173 Issue 2, p407-413, 7p

A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency.

Authors: Paganini, I. Sestini, R. Capone, G.L. et al.

Source: Clinical Genetics. Dec2017, Vol. 92 Issue 6, p664-668. 6p. 3 Diagrams.

An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene.

Authors: Soragna D Tupler R Ratti M T et al.

Source: Journal of Neurology, Neurosurgery & Psychiatry. Jun2003, Vol. 74 Issue 6, p825-826. 2p.

Multiple spinal ganglioneuromas in a patient harboring a pathogenic NF1 mutation.

Authors: Bacci, C. Sestini, R. Ammannati, F. et al.

Source: Clinical Genetics. Mar2010, Vol. 77 Issue 3, p293-297. 5p. 1 Black and White Photograph, 1 Diagram, 1 Chart, 1 Graph.

A novel microdeletion syndrome with loss of theMSH2locus and hereditary non-polyposis colorectal cancer.

Authors: Lucci-Cordisco, E. Zollino, M. Baglioni, S. et al.

Source: Clinical Genetics. Feb2005, Vol. 67 Issue 2, p178-182. 5p.

Downhill: a new rehabilitation frontier. A systematic review of the literature.

Authors: Tamburlani M Cuscito R D'Angelo A et al.

Source: Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace [Monaldi Arch Chest Dis] 2026 Mar 02; Vol. 96 (1). Date of Electronic Publication: 2025 Jan 16.

Publication Type: Journal Article; Systematic Review

Journal Info: Publisher: PAGEPress Country of Publication: Italy NLM ID: 9307314 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2532-5264 (Electronic) Linking ISSN: 11220643 NLM ISO Abbreviation: Monaldi Arch Chest Dis Subsets: MEDLINE

In Vitro Assessment of Essential Oils as Sustainable Antifungal Agents Against Sclerotinia sclerotiorum Causing Lettuce Drop.

Authors: Tunç M Piancatelli S Makau SM et al.

Source: Molecules (Basel, Switzerland) [Molecules] 2026 Feb 16; Vol. 31 (4). Date of Electronic Publication: 2026 Feb 16.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 100964009 Publication Model: Electronic Cited Medium: Internet ISSN: 1420-3049 (Electronic) Linking ISSN: 14203049 NLM ISO Abbreviation: Molecules Subsets: MEDLINE

Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield.

Authors: Bonamici L Artuso L Marino M et al.

Source: Human mutation [Hum Mutat] 2026 Jan 03; Vol. 2026, pp. 6601291. Date of Electronic Publication: 2026 Jan 03 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer.

Authors: Barnes DR Tyrer JP Dennis J et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2025 Nov 20; Vol. 10 (1), pp. 73. Date of Electronic Publication: 2025 Nov 20.

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Authors: Di Giosaffatte N Daniele P Petrizzelli F et al.

Source: Breast (Edinburgh, Scotland) [Breast] 2025 Dec; Vol. 84, pp. 104618. Date of Electronic Publication: 2025 Oct 22.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 9213011 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-3080 (Electronic) Linking ISSN: 09609776 NLM ISO Abbreviation: Breast Subsets: MEDLINE

Long-read genome sequencing resolves the breakpoints of a chromosome 8;22 balanced translocation in NF2-related schwannomatosis.

Authors: Montini M Bonacchi L Sidoti D et al.

Source: Scientific reports [Sci Rep] 2025 Dec 01; Vol. 16 (1), pp. 549. Date of Electronic Publication: 2025 Dec 01.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

Forensic aspects of healthcare-related murders: a series of homicides and attempted homicides committed by nurses in Italy.

Authors: Visi G Spina F Del Duca F et al.

Source: Journal of forensic and legal medicine [J Forensic Leg Med] 2025 Oct; Vol. 115, pp. 102939. Date of Electronic Publication: 2025 Jul 31.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 101300022 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-7487 (Electronic) Linking ISSN: 1752928X NLM ISO Abbreviation: J Forensic Leg Med Subsets: MEDLINE

Alu-Mediated Duplication and Deletion of Exon 11 Are Frequent Mechanisms of PALB2 Inactivation, Predisposing Individuals to Hereditary Breast-Ovarian Cancer Syndrome.

Authors: Sidoti D Margotta V Calosci D et al.

Source: Cancers [Cancers (Basel)] 2024 Nov 30; Vol. 16 (23). Date of Electronic Publication: 2024 Nov 30.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101526829 Publication Model: Electronic Cited Medium: Print ISSN: 2072-6694 (Print) Linking ISSN: 20726694 NLM ISO Abbreviation: Cancers (Basel) Subsets: PubMed not MEDLINE

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

Authors: Mastromoro G Santoro C Motta M et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Nov; Vol. 26 (11), pp. 101241. Date of Electronic Publication: 2024 Aug 10.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Is Healthcare Responsibility in Patients' Suicide Provable Beyond all Reasonable Doubt? An Analysis of Preventing Strategies and Medical Liability Through a Case Series.

Authors: Turco S Gori F Papi L et al.

Source: Clinical neuropsychiatry [Clin Neuropsychiatry] 2022 Oct; Vol. 19 (5), pp. 307-313.

Publication Type: Journal Article

Journal Info: Publisher: G. Fioriti Country of Publication: Italy NLM ID: 101237961 Publication Model: Print Cited Medium: Internet ISSN: 2385-0787 (Electronic) Linking ISSN: 17244935 NLM ISO Abbreviation: Clin Neuropsychiatry Subsets: PubMed not MEDLINE

Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosis.

Authors: Melfi V Mohamed T Colciago A et al.

Source: Heliyon [Heliyon] 2024 Oct 04; Vol. 10 (19), pp. e38957. Date of Electronic Publication: 2024 Oct 04 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Ltd Country of Publication: England NLM ID: 101672560 Publication Model: eCollection Cited Medium: Print ISSN: 2405-8440 (Print) Linking ISSN: 24058440 NLM ISO Abbreviation: Heliyon Subsets: PubMed not MEDLINE

Do We Need Fasting Prior to Coronary Angiography? The CORO-NF Randomized Pragmatic Study.

Authors: Tamborrino PP Papi L Michelotti L et al.

Source: The American journal of medicine [Am J Med] 2024 Jul; Vol. 137 (7), pp. 666-672. Date of Electronic Publication: 2024 Feb 07.

Publication Type: Journal Article; Pragmatic Clinical Trial; Randomized Controlled Trial

Journal Info: Publisher: Excerpta Medica Country of Publication: United States NLM ID: 0267200 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1555-7162 (Electronic) Linking ISSN: 00029343 NLM ISO Abbreviation: Am J Med Subsets: MEDLINE

Mother, father, son and the Italian Law 40/2004. No 'delete' key.

Authors: Turillazzi E Morena D Papi L et al.

Source: Reproductive biomedicine online [Reprod Biomed Online] 2024 Jul; Vol. 49 (1), pp. 103970. Date of Electronic Publication: 2024 Mar 21.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101122473 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1472-6491 (Electronic) Linking ISSN: 14726483 NLM ISO Abbreviation: Reprod Biomed Online Subsets: MEDLINE