Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

117 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.
Riva M, Martorana D, Uliana V, Caleffi E, Boschi E, Garavelli L, Ponti G, Sangiorgi L, Graziano C, Bigoni S, Rocchetti LM, Madeo S, Soli F, Grosso E, Carli D, Goldoni M, Pisani F, Percesepe A. Riva M, et al. Among authors: sangiorgi l. Genes Chromosomes Cancer. 2022 Jan;61(1):10-21. doi: 10.1002/gcc.22997. Epub 2021 Sep 3. Genes Chromosomes Cancer. 2022. PMID: 34427956 Free PMC article.
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series.
Gnoli M, Staals EL, Campanacci L, Bedeschi MF, Faletra F, Gallone S, Gaudio A, Mattina T, Gurrieri F, Percesepe A, Neri I, Virdi A, Tremosini M, Milanesi A, Brizola E, Pedrini E, Sangiorgi L. Gnoli M, et al. Among authors: sangiorgi l. Calcif Tissue Int. 2019 Aug;105(2):215-221. doi: 10.1007/s00223-019-00565-6. Epub 2019 May 25. Calcif Tissue Int. 2019. PMID: 31129707
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.
Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonafé L, Superti-Furga A, Ikegawa S, Cormier-Daire V, Bovée JV, Pansuriya TC, de Sousa SB, Savarirayan R, Andreucci E, Vikkula M, Garavelli L, Pottinger C, Ogino T, Sakai A, Regazzoni BM, Wuyts W, Sangiorgi L, Pedrini E, Zhu M, Kozakewich HP, Kasser JR, Seidman JG, Kurek KC, Warman ML. Bowen ME, et al. Among authors: sangiorgi l. PLoS Genet. 2011 Apr;7(4):e1002050. doi: 10.1371/journal.pgen.1002050. Epub 2011 Apr 14. PLoS Genet. 2011. PMID: 21533187 Free PMC article.
The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice.
Mordenti M, Gnoli M, Boarini M, Trisolino G, Evangelista A, Pedrini E, Corsini S, Tremosini M, Staals EL, Antonioli D, Stilli S, Donati DM, Sangiorgi L. Mordenti M, et al. Among authors: sangiorgi l. Am J Med Genet A. 2021 Nov;185(11):3466-3475. doi: 10.1002/ajmg.a.62470. Epub 2021 Sep 3. Am J Med Genet A. 2021. PMID: 34477285 Free PMC article.
COL1-Related Disorders: Case Report and Review of Overlapping Syndromes.
Gnoli M, Brizola E, Tremosini M, Pedrini E, Maioli M, Mosca M, Bassotti A, Castronovo P, Giunta C, Sangiorgi L. Gnoli M, et al. Among authors: sangiorgi l. Front Genet. 2021 May 7;12:640558. doi: 10.3389/fgene.2021.640558. eCollection 2021. Front Genet. 2021. PMID: 34025714 Free PMC article.
Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients.
Maioli M, Gnoli M, Boarini M, Tremosini M, Zambrano A, Pedrini E, Mordenti M, Corsini S, D'Eufemia P, Versacci P, Celli M, Sangiorgi L. Maioli M, et al. Among authors: sangiorgi l. Eur J Hum Genet. 2019 Jul;27(7):1090-1100. doi: 10.1038/s41431-019-0373-x. Epub 2019 Mar 18. Eur J Hum Genet. 2019. PMID: 30886339 Free PMC article. Clinical Trial.
Osteogenesis imperfecta: a cross-sectional study of skeletal and extraskeletal features in a large cohort of Italian patients.
Mordenti M, Boarini M, Banchelli F, Antonioli D, Corsini S, Gnoli M, Locatelli M, Pedrini E, Staals E, Trisolino G, Lanza M, Sangiorgi L. Mordenti M, et al. Among authors: sangiorgi l. Front Endocrinol (Lausanne). 2024 Jan 11;14:1299232. doi: 10.3389/fendo.2023.1299232. eCollection 2023. Front Endocrinol (Lausanne). 2024. PMID: 38274230 Free PMC article.
Nosology and classification of genetic skeletal disorders: 2019 revision.
Mortier GR, Cohn DH, Cormier-Daire V, Hall C, Krakow D, Mundlos S, Nishimura G, Robertson S, Sangiorgi L, Savarirayan R, Sillence D, Superti-Furga A, Unger S, Warman ML. Mortier GR, et al. Among authors: sangiorgi l. Am J Med Genet A. 2019 Dec;179(12):2393-2419. doi: 10.1002/ajmg.a.61366. Epub 2019 Oct 21. Am J Med Genet A. 2019. PMID: 31633310
117 results