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28 results

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Page 1
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: gelmini c. Ital J Pediatr. 2014 Dec 17;40:86. doi: 10.1186/s13052-014-0086-2. Ital J Pediatr. 2014. PMID: 25516103 Free PMC article.
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.
Garavelli L, Piemontese MR, Cavazza A, Rosato S, Wischmeijer A, Gelmini C, Albertini E, Albertini G, Forzano F, Franchi F, Carella M, Zelante L, Superti-Furga A. Garavelli L, et al. Among authors: gelmini c. Am J Med Genet A. 2013 Nov;161A(11):2894-901. doi: 10.1002/ajmg.a.36259. Epub 2013 Oct 7. Am J Med Genet A. 2013. PMID: 24124115
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: gelmini c. 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.
Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation.
Garavelli L, Wischmeijer A, Rosato S, Gelmini C, Reverberi S, Sassi S, Ferrari A, Mari F, Zabel B, Lausch E, Unger S, Superti-Furga A. Garavelli L, et al. Among authors: gelmini c. Am J Med Genet A. 2011 Feb;155A(2):332-6. doi: 10.1002/ajmg.a.33793. Epub 2010 Dec 22. Am J Med Genet A. 2011. PMID: 21271649 No abstract available.
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: gelmini c. 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
Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.
Garavelli L, Simonte G, Rosato S, Wischmeijer A, Albertini E, Guareschi E, Longo C, Albertini G, Gelmini C, Greco C, Errico S, Savino G, Pavanello M, Happle R, Unger S, Superti-Furga A, Grzeschik KH. Garavelli L, et al. Among authors: gelmini c. Am J Med Genet A. 2013 Jul;161A(7):1750-4. doi: 10.1002/ajmg.a.35964. Epub 2013 May 21. Am J Med Genet A. 2013. PMID: 23696273
Complex cranio-vertebral malformation: disruption sequence or iniencephaly?
Pollazzon M, Rosato S, Ivanovski I, Gelmini C, Bertani G, Pascarella R, Napoli M, Garavelli L, Unger S, Superti-Furga A. Pollazzon M, et al. Among authors: gelmini c. Clin Dysmorphol. 2018 Jul;27(3):105-108. doi: 10.1097/MCD.0000000000000218. Clin Dysmorphol. 2018. PMID: 29494358 No abstract available.
Mandibuloacral dysplasia type A in childhood.
Garavelli L, D'Apice MR, Rivieri F, Bertoli M, Wischmeijer A, Gelmini C, De Nigris V, Albertini E, Rosato S, Virdis R, Bacchini E, Dal Zotto R, Banchini G, Iughetti L, Bernasconi S, Superti-Furga A, Novelli G. Garavelli L, et al. Among authors: gelmini c. Am J Med Genet A. 2009 Oct;149A(10):2258-64. doi: 10.1002/ajmg.a.33005. Am J Med Genet A. 2009. PMID: 19764019
28 results