Lalatta F - Search Results

1

FAM111A mutations result in hypoparathyroidism and impaired skeletal development.

Unger S, Górna MW, Le Béchec A, Do Vale-Pereira S, Bedeschi MF, Geiberger S, Grigelioniene G, Horemuzova E, Lalatta F, Lausch E, Magnani C, Nampoothiri S, Nishimura G, Petrella D, Rojas-Ringeling F, Utsunomiya A, Zabel B, Pradervand S, Harshman K, Campos-Xavier B, Bonafé L, Superti-Furga G, Stevenson B, Superti-Furga A. Unger S, et al. Among authors: lalatta f. Am J Hum Genet. 2013 Jun 6;92(6):990-5. doi: 10.1016/j.ajhg.2013.04.020. Epub 2013 May 16. Am J Hum Genet. 2013. PMID: 23684011 Free PMC article.

2

Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: a genotype-phenotype analysis.

Ronzoni L, Peron A, Bianchi V, Baccarin M, Guerneri S, Silipigni R, Lalatta F, Bedeschi MF. Ronzoni L, et al. Among authors: lalatta f. Am J Med Genet A. 2015 Jul;167(7):1551-9. doi: 10.1002/ajmg.a.37063. Epub 2015 Apr 6. Am J Med Genet A. 2015. PMID: 25851921

3

Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome.

Peron A, Boito S, Rizzuti T, Borzani I, Baccarin M, Bedeschi MF, Lalatta F. Peron A, et al. Among authors: lalatta f. Genet Med. 2018 Nov;20(11):1483-1484. doi: 10.1038/gim.2018.19. Genet Med. 2018. PMID: 29517766 Free article. No abstract available.

4

Unusual prenatal presentation of Rubinstein-Taybi syndrome: a case report.

Bedeschi MF, Crippa BL, Colombo L, Guez S, Cerruti M, Fogliani R, Gervasini C, Lalatta F. Bedeschi MF, et al. Among authors: lalatta f. Am J Med Genet A. 2014 Oct;164A(10):2663-6. doi: 10.1002/ajmg.a.36684. Epub 2014 Jul 29. Am J Med Genet A. 2014. PMID: 25073882

5

Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene.

Bedeschi MF, Novelli A, Bernardini L, Parazzini C, Bianchi V, Torres B, Natacci F, Giuffrida MG, Ficarazzi P, Dallapiccola B, Lalatta F. Bedeschi MF, et al. Among authors: lalatta f. Am J Med Genet A. 2008 Jul 1;146A(13):1718-24. doi: 10.1002/ajmg.a.32365. Am J Med Genet A. 2008. PMID: 18512229

6

Impaired glucose metabolism in subjects with the Williams-Beuren syndrome: A five-year follow-up cohort study.

Lunati ME, Bedeschi MF, Resi V, Grancini V, Palmieri E, Salera S, Lalatta F, Pugliese G, Orsi E. Lunati ME, et al. Among authors: lalatta f. PLoS One. 2017 Oct 20;12(10):e0185371. doi: 10.1371/journal.pone.0185371. eCollection 2017. PLoS One. 2017. PMID: 29053727 Free PMC article.

7

Neurofibromatosis type 1 and pregnancy: maternal complications and attitudes about prenatal diagnosis.

Cesaretti C, Melloni G, Quagliarini D, Fogliani R, Zaina B, Bedeschi MF, Lalatta F, Trespidi L, Natacci F. Cesaretti C, et al. Among authors: lalatta f. Am J Med Genet A. 2013 Feb;161A(2):386-8. doi: 10.1002/ajmg.a.35720. Epub 2013 Jan 16. Am J Med Genet A. 2013. PMID: 23325535 No abstract available.

8

Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs.

Natacci F, Baffico M, Cavallari U, Bedeschi MF, Mura I, Paffoni A, Setti PL, Baldi M, Lalatta F. Natacci F, et al. Among authors: lalatta f. Am J Med Genet A. 2008 Mar 15;146A(6):784-6. doi: 10.1002/ajmg.a.32228. Am J Med Genet A. 2008. PMID: 18266238

9

Prenatal ultrasound factors and genetic disorders in pregnancies complicated by polyhydramnios.

Boito S, Crovetto F, Ischia B, Crippa BL, Fabietti I, Bedeschi MF, Lalatta F, Colombo L, Mosca F, Fedele L, Persico N. Boito S, et al. Among authors: lalatta f. Prenat Diagn. 2016 Aug;36(8):726-30. doi: 10.1002/pd.4851. Epub 2016 Jun 24. Prenat Diagn. 2016. PMID: 27247190

10

STAR syndrome plus: The first description of a female patient with the lethal form.

Bedeschi MF, Giangiobbe S, Paganini L, Tabano S, Silipigni R, Colombo L, Crippa BL, Lalatta F, Guerneri S, Miozzo M. Bedeschi MF, et al. Among authors: lalatta f. Am J Med Genet A. 2017 Dec;173(12):3226-3230. doi: 10.1002/ajmg.a.38484. Epub 2017 Oct 31. Am J Med Genet A. 2017. PMID: 29088509

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