Brunetti-Pierri N - Search Results

1

ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.

Kushary ST, Revah-Politi A, Barua S, Ganapathi M, Accogli A, Aggarwal V, Brunetti-Pierri N, Cappuccio G, Capra V, Fagerberg CR, Gazdagh G, Guzman E, Hadonou M, Harrison V, Havelund K, Iancu D, Kraus A, Lippa NC, Mansukhani M, McBrian D, McEntagart M, Pacio-Míguez M, Palomares-Bralo M, Pottinger C, Ruivenkamp CAL, Sacco O, Santen GWE, Santos-Simarro F, Scala M, Short J, Sørensen KP, Woods CG; DDD Study; TUDP Consortium; Anyane Yeboa K. Kushary ST, et al. Am J Med Genet A. 2021 Dec;185(12):3740-3753. doi: 10.1002/ajmg.a.62445. Epub 2021 Jul 31. Am J Med Genet A. 2021. PMID: 34331327 Free PMC article.

2

X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene.

Parenti G, Buttitta P, Meroni G, Franco B, Bernard L, Rizzolo MG, Brunetti-Pierri N, Ballabio A, Andria G. Parenti G, et al. Am J Med Genet. 1997 Dec 12;73(2):139-43. doi: 10.1002/(sici)1096-8628(19971212)73:2<139::aid-ajmg7>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9409863

3

Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.

Brunetti-Pierri N, Corso G, Rossi M, Ferrari P, Balli F, Rivasi F, Annunziata I, Ballabio A, Russo AD, Andria G, Parenti G. Brunetti-Pierri N, et al. Am J Hum Genet. 2002 Oct;71(4):952-8. doi: 10.1086/342668. Epub 2002 Aug 20. Am J Hum Genet. 2002. PMID: 12189593 Free PMC article.

4

X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.

Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G. Brunetti-Pierri N, et al. Am J Med Genet A. 2003 Mar 1;117A(2):164-8. doi: 10.1002/ajmg.a.10950. Am J Med Genet A. 2003. PMID: 12567415

5

A new patient with Lowry-Wood syndrome with mild phenotype.

Brunetti-Pierri N, De Brasi D, Ikegawa S, Camera G, Andria G, Sebastio G. Brunetti-Pierri N, et al. Am J Med Genet A. 2003 Apr 1;118A(1):68-70. doi: 10.1002/ajmg.a.20008. Am J Med Genet A. 2003. PMID: 12605445

6

Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review.

Rossi M, Vajro P, Iorio R, Battagliese A, Brunetti-Pierri N, Corso G, Di Rocco M, Ferrari P, Rivasi F, Vecchione R, Andria G, Parenti G. Rossi M, et al. Am J Med Genet A. 2005 Jan 15;132A(2):144-51. doi: 10.1002/ajmg.a.30426. Am J Med Genet A. 2005. PMID: 15580635 Review.

7

Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene.

Franzese A, Brunetti-Pierri N, Spagnuolo MI, Spadaro R, Giugliano M, Mukai T, Valerio G. Franzese A, et al. Am J Med Genet A. 2005 May 15;135(1):72-4. doi: 10.1002/ajmg.a.30670. Am J Med Genet A. 2005. PMID: 15800903 Review.

8

15q13q14 deletions: phenotypic characterization and molecular delineation by comparative genomic hybridization.

Brunetti-Pierri N, Sahoo T, Frioux S, Chinault C, Zascavage R, Cheung SW, Peters S, Shinawi M. Brunetti-Pierri N, et al. Am J Med Genet A. 2008 Aug 1;146A(15):1933-41. doi: 10.1002/ajmg.a.32324. Am J Med Genet A. 2008. PMID: 18561338

9

Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.

Brunetti-Pierri N, Del Gaudio D, Peters H, Justino H, Ott CE, Mundlos S, Bacino CA. Brunetti-Pierri N, et al. Am J Med Genet A. 2008 Nov 1;146A(21):2804-9. doi: 10.1002/ajmg.a.32530. Am J Med Genet A. 2008. PMID: 18831060

10

Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region.

Brunetti-Pierri N, Lachman R, Lee K, Leal SM, Piccolo P, Van Den Veyver IB, Bacino CA. Brunetti-Pierri N, et al. Am J Med Genet A. 2010 Jul;152A(7):1825-31. doi: 10.1002/ajmg.a.33470. Am J Med Genet A. 2010. PMID: 20583181 Free PMC article.

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