Grosso S - Search Results

1

Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism.

Steinfeld R, Grapp M, Kraetzner R, Dreha-Kulaczewski S, Helms G, Dechent P, Wevers R, Grosso S, Gärtner J. Steinfeld R, et al. Among authors: grosso s. Am J Hum Genet. 2009 Sep;85(3):354-63. doi: 10.1016/j.ajhg.2009.08.005. Am J Hum Genet. 2009. PMID: 19732866 Free PMC article.

2

Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.

Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C. Struys EA, et al. Among authors: grosso s. Am J Hum Genet. 2005 Feb;76(2):358-60. doi: 10.1086/427890. Epub 2004 Dec 17. Am J Hum Genet. 2005. PMID: 15609246 Free PMC article.

3

De novo complete trisomy 5p: clinical and neuroradiological findings.

Grosso S, Cioni M, Garibaldi G, Pucci L, Galluzzi P, Canapicchi R, Morgese G, Balestri P. Grosso S, et al. Am J Med Genet. 2002 Sep 15;112(1):56-60. doi: 10.1002/ajmg.10679. Am J Med Genet. 2002. PMID: 12239721

4

Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia.

Grosso S, Farnetani MA, Berardi R, Bartalini G, Carpentieri M, Galluzzi P, Mostardini R, Morgese G, Balestri P. Grosso S, et al. Am J Med Genet A. 2003 Jul 1;120A(1):88-91. doi: 10.1002/ajmg.a.10171. Am J Med Genet A. 2003. PMID: 12794698

5

Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome?

Grosso S, Farnetani MA, Berardi R, Vivarelli R, Vanni M, Morgese G, Balestri P. Grosso S, et al. Am J Med Genet. 2002 Aug 1;111(2):182-6. doi: 10.1002/ajmg.10493. Am J Med Genet. 2002. PMID: 12210347

6

Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy.

Pramparo T, Grosso S, Messa J, Zatterale A, Bonaglia MC, Chessa L, Balestri P, Rocchi M, Zuffardi O, Giorda R. Pramparo T, et al. Among authors: grosso s. Hum Genet. 2005 Oct;118(1):76-81. doi: 10.1007/s00439-005-0004-1. Epub 2005 Oct 28. Hum Genet. 2005. PMID: 16001262

7

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.

Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri P, Bergo A, Badaracco G, Zappella M, Broccoli V, Renieri A, Kilstrup-Nielsen C, Landsberger N. Mari F, et al. Among authors: grosso s. Hum Mol Genet. 2005 Jul 15;14(14):1935-46. doi: 10.1093/hmg/ddi198. Epub 2005 May 25. Hum Mol Genet. 2005. PMID: 15917271

8

Natural history of KBG syndrome in a large European cohort.

Loberti L, Bruno LP, Granata S, Doddato G, Resciniti S, Fava F, Carullo M, Rahikkala E, Jouret G, Menke LA, Lederer D, Vrielynck P, Ryba L, Brunetti-Pierri N, Lasa-Aranzasti A, Cueto-González AM, Trujillano L, Valenzuela I, Tizzano EF, Spinelli AM, Bruno I, Currò A, Stanzial F, Benedicenti F, Lopergolo D, Santorelli FM, Aristidou C, Tanteles GA, Maystadt I, Tkemaladze T, Reimand T, Lokke H, Õunap K, Haanpää MK, Holubová A, Zoubková V, Schwarz M, Žordania R, Muru K, Roht L, Tihveräinen A, Teek R, Thomson U, Atallah I, Superti-Furga A, Buoni S, Canitano R, Scandurra V, Rossetti A, Grosso S, Battini R, Baldassarri M, Mencarelli MA, Rizzo CL, Bruttini M, Mari F, Ariani F, Renieri A, Pinto AM. Loberti L, et al. Among authors: grosso s. Hum Mol Genet. 2022 Dec 16;31(24):4131-4142. doi: 10.1093/hmg/ddac167. Hum Mol Genet. 2022. PMID: 35861666 Free PMC article.

9

Chromosome 18 aberrations and epilepsy: a review.

Grosso S, Pucci L, Di Bartolo RM, Gobbi G, Bartalini G, Anichini C, Scarinci R, Balestri M, Farnetani MA, Cioni M, Morgese G, Balestri P. Grosso S, et al. Am J Med Genet A. 2005 Apr 1;134A(1):88-94. doi: 10.1002/ajmg.a.30575. Am J Med Genet A. 2005. PMID: 15690352

10

Epilepsy and electroencephalographic findings in pericentric inversion of chromosome 12.

Grosso S, Pucci L, Farnetani M, Di Bartolo RM, Galimberti D, Mostardini R, Anichini C, Balestri M, Morgese G, Balestri P. Grosso S, et al. J Child Neurol. 2004 Aug;19(8):604-8. doi: 10.1177/088307380401900807. J Child Neurol. 2004. PMID: 15605470

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