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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

186 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.
Peluso F, Caraffi SG, Zuntini R, Trimarchi G, Ivanovski I, Valeri L, Barbieri V, Marinelli M, Pancaldi A, Melli N, Cesario C, Agolini E, Cellini E, Radio FC, Crisafi A, Napoli M, Guerrini R, Tartaglia M, Novelli A, Gargano G, Zuffardi O, Garavelli L. Peluso F, et al. Among authors: gargano g. Genes (Basel). 2021 Jun 24;12(7):962. doi: 10.3390/genes12070962. Genes (Basel). 2021. PMID: 34202629 Free PMC article.
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia.
Garavelli L, Gargano G, Simonte G, Rosato S, Wischmeijer A, Melli N, Braibanti S, Gelmini C, Forzano F, Pietrobono R, Pomponi MG, Andreucci E, Toutain A, Superti-Furga A, Neri G. Garavelli L, et al. Among authors: gargano g. Am J Med Genet A. 2012 Sep;158A(9):2245-9. doi: 10.1002/ajmg.a.35474. Epub 2012 Jul 17. Am J Med Genet A. 2012. PMID: 22807161
Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation.
Gargano G, Guidotti I, Balestri E, Vagnarelli F, Rosato S, Comitini G, Wischmeijer A, La Sala GB, Iughetti L, Cordeddu V, Rossi C, Tartaglia M, Garavelli L. Gargano G, et al. Am J Med Genet A. 2014 Apr;164A(4):1015-20. doi: 10.1002/ajmg.a.36376. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458587 Free article.
Multiple sulfatase deficiency with neonatal manifestation.
Garavelli L, Santoro L, Iori A, Gargano G, Braibanti S, Pedori S, Melli N, Frattini D, Zampini L, Galeazzi T, Padella L, Pepe S, Wischmeijer A, Rosato S, Ivanovski I, Iughetti L, Gelmini C, Bernasconi S, Superti-Furga A, Ballabio A, Gabrielli O. Garavelli L, et al. Among authors: gargano g. Ital J Pediatr. 2014 Dec 17;40:86. doi: 10.1186/s13052-014-0086-2. Ital J Pediatr. 2014. PMID: 25516103 Free PMC article.
Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies.
Maini I, Ivanovski I, Djuric O, Caraffi SG, Errichiello E, Marinelli M, Franchi F, Bizzarri V, Rosato S, Pollazzon M, Gelmini C, Malacarne M, Fusco C, Gargano G, Bernasconi S, Zuffardi O, Garavelli L. Maini I, et al. Among authors: gargano g. Ital J Pediatr. 2018 Mar 9;44(1):34. doi: 10.1186/s13052-018-0467-z. Ital J Pediatr. 2018. PMID: 29523172 Free PMC article.
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.
Trimarchi G, Caraffi SG, Radio FC, Barresi S, Contrò G, Pizzi S, Maini I, Pollazzon M, Fusco C, Sassi S, Nicoli D, Napoli M, Pascarella R, Gargano G, Zuffardi O, Tartaglia M, Garavelli L. Trimarchi G, et al. Among authors: gargano g. Genes (Basel). 2021 Jun 22;12(7):950. doi: 10.3390/genes12070950. Genes (Basel). 2021. PMID: 34206215 Free PMC article.
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.
Contrò G, Micalizzi A, Giangiobbe S, Caraffi SG, Zuntini R, Rosato S, Pollazzon M, Terracciano A, Napoli M, Rizzi S, Salerno GG, Radio FC, Niceta M, Parrini E, Fusco C, Gargano G, Guerrini R, Tartaglia M, Novelli A, Zuffardi O, Garavelli L. Contrò G, et al. Among authors: gargano g. Genes (Basel). 2021 Aug 5;12(8):1208. doi: 10.3390/genes12081208. Genes (Basel). 2021. PMID: 34440382 Free PMC article.
A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasia.
Cisarova K, Garavelli L, Caraffi SG, Peluso F, Valeri L, Gargano G, Gavioli S, Trimarchi G, Neri A, Campos-Xavier B, Superti-Furga A. Cisarova K, et al. Among authors: gargano g. Am J Med Genet A. 2022 Jan;188(1):319-325. doi: 10.1002/ajmg.a.62506. Epub 2021 Sep 28. Am J Med Genet A. 2022. PMID: 34580982 Free PMC article.
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
Pollazzon M, Caraffi SG, Faccioli S, Rosato S, Fodstad H, Campos-Xavier B, Soncini E, Comitini G, Frattini D, Grimaldi T, Marinelli M, Martorana D, Percesepe A, Sassi S, Fusco C, Gargano G, Superti-Furga A, Garavelli L. Pollazzon M, et al. Among authors: gargano g. Genes (Basel). 2021 Dec 23;13(1):29. doi: 10.3390/genes13010029. Genes (Basel). 2021. PMID: 35052370 Free PMC article.
186 results