Baroncini A - Search Results

1

Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.

Sun Y, Almomani R, Aten E, Celli J, van der Heijden J, Venselaar H, Robertson SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Drut R, Ariyurek Y, den Dunnen JT, Breuning MH. Sun Y, et al. Among authors: baroncini a. Am J Hum Genet. 2010 Jul 9;87(1):146-53. doi: 10.1016/j.ajhg.2010.06.008. Am J Hum Genet. 2010. PMID: 20598277 Free PMC article.

2

Terminal osseous dysplasia with pigmentary defects: clinical description of a new family.

Baroncini A, Castelluccio P, Morleo M, Soli F, Franco B. Baroncini A, et al. Am J Med Genet A. 2007 Jan 1;143A(1):51-7. doi: 10.1002/ajmg.a.31557. Am J Med Genet A. 2007. PMID: 17152064

3

A new family with chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism (Boucher-Neuhäuser syndrome).

Baroncini A, Franco N, Forabosco A. Baroncini A, et al. Clin Genet. 1991 Apr;39(4):274-7. doi: 10.1111/j.1399-0004.1991.tb03025.x. Clin Genet. 1991. PMID: 1906382

4

FISH screening for subtelomeric rearrangements in 219 patients with idiopathic mental retardation and normal karyotype.

Baroncini A, Rivieri F, Capucci A, Croci G, Franchi F, Sensi A, Battaglia P, Aiello V, Calzolari E. Baroncini A, et al. Eur J Med Genet. 2005 Oct-Dec;48(4):388-96. doi: 10.1016/j.ejmg.2005.05.002. Eur J Med Genet. 2005. PMID: 16378923

5

Chromosomal microarray as first-tier approach in low-risk pregnancies: detection rate should not be the only criterion for its application.

Baroncini A, Sinibaldi L, Bernardini L, Cavalli P, Faravelli F, Gentile M, Lituania M, Volpe P, Camurri L, Novelli A, Dallapiccola B. Baroncini A, et al. Ultrasound Obstet Gynecol. 2014 Mar;43(3):357-8. doi: 10.1002/uog.13261. Ultrasound Obstet Gynecol. 2014. PMID: 24591234 Free article. No abstract available.

6

Distal 12p deletion in a stillborn infant.

Baroncini A, Avellini C, Neri C, Forabosco A. Baroncini A, et al. Am J Med Genet. 1990 Jul;36(3):358-60. doi: 10.1002/ajmg.1320360324. Am J Med Genet. 1990. PMID: 2363438

7

The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.

Marangi G, Ricciardi S, Orteschi D, Lattante S, Murdolo M, Dallapiccola B, Biscione C, Lecce R, Chiurazzi P, Romano C, Greco D, Pettinato R, Sorge G, Pantaleoni C, Alfei E, Toldo I, Magnani C, Bonanni P, Martinez F, Serra G, Battaglia D, Lettori D, Vasco G, Baroncini A, Daolio C, Zollino M. Marangi G, et al. Among authors: baroncini a. Am J Med Genet A. 2011 Jul;155A(7):1536-45. doi: 10.1002/ajmg.a.34070. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671391

8

The phenotype of partial dup(7q) reconsidered: a report of five new cases.

Forabosco A, Baroncini A, Dalpra L, Chessa L, Giannotti A, Maccagnani F, Dallapiccola B. Forabosco A, et al. Among authors: baroncini a. Clin Genet. 1988 Jul;34(1):48-59. doi: 10.1111/j.1399-0004.1988.tb02615.x. Clin Genet. 1988. PMID: 3409538

9

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.

Bonaglia MC, Giorda R, Mani E, Aceti G, Anderlid BM, Baroncini A, Pramparo T, Zuffardi O. Bonaglia MC, et al. Among authors: baroncini a. J Med Genet. 2006 Oct;43(10):822-8. doi: 10.1136/jmg.2005.038604. Epub 2005 Nov 11. J Med Genet. 2006. PMID: 16284256 Free PMC article.

10

Nasal abnormalities in the 9p deletion syndrome.

Compadretti GC, Tasca I, Baroncini A, Pittalis MC. Compadretti GC, et al. Among authors: baroncini a. Arch Otolaryngol Head Neck Surg. 2007 Oct;133(10):1054-6. doi: 10.1001/archotol.133.10.1054. Arch Otolaryngol Head Neck Surg. 2007. PMID: 17938332 No abstract available.

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