Faletra F - Search Results

1

Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.

von der Lippe C, Tveten K, Prescott TE, Holla ØL, Busk ØL, Burke KB, Sansbury FH, Baptista J, Fry AE, Lim D, Jolles S, Evans J, Osio D, Macmillan C, Bruno I, Faletra F, Climent S, Urreitzi R, Hoenicka J, Palau F, Cohen ASA, Engleman K, Zhou D, Amudhavalli SM, Jeanne M, Bonnet-Brilhault F, Lévy J, Drunat S, Derive N, Haug MG, Thorstensen WM. von der Lippe C, et al. Among authors: faletra f. Am J Med Genet A. 2022 Jan;188(1):272-282. doi: 10.1002/ajmg.a.62492. Epub 2021 Sep 13. Am J Med Genet A. 2022. PMID: 34515416

2

De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature.

Perrone MD, Rocca MS, Bruno I, Faletra F, Pecile V, Gasparini P. Perrone MD, et al. Among authors: faletra f. Eur J Med Genet. 2012 Feb;55(2):117-9. doi: 10.1016/j.ejmg.2011.11.004. Epub 2011 Dec 2. Eur J Med Genet. 2012. PMID: 22186213

3

A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family.

Faletra F, d'Adamo AP, Pensiero S, Athanasakis E, Catalano D, Bruno I, Gasparini P. Faletra F, et al. Ophthalmic Genet. 2013 Mar-Jun;34(1-2):115-7. doi: 10.3109/13816810.2012.707273. Epub 2012 Jul 30. Ophthalmic Genet. 2013. PMID: 22846113

4

A red baby should not be taken too lightly.

Faletra F, Bruno I, Berti I, Pastore S, Pirrone A, Tommasini A. Faletra F, et al. Acta Paediatr. 2012 Dec;101(12):e573-7. doi: 10.1111/apa.12018. Epub 2012 Sep 23. Acta Paediatr. 2012. PMID: 22946961

5

Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations.

Faletra F, Snider K, Shyng SL, Bruno I, Athanasakis E, Gasparini P, Dionisi-Vici C, Ventura A, Zhou Q, Stanley CA, Burlina A. Faletra F, et al. Gene. 2013 Mar 1;516(1):122-5. doi: 10.1016/j.gene.2012.12.055. Epub 2012 Dec 22. Gene. 2013. PMID: 23266803 Free PMC article.

6

Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.

Faletra F, D'Adamo AP, Bruno I, Athanasakis E, Biskup S, Esposito L, Gasparini P. Faletra F, et al. Am J Med Genet A. 2014 Jan;164A(1):42-7. doi: 10.1002/ajmg.a.36165. Epub 2013 Nov 22. Am J Med Genet A. 2014. PMID: 24273071

7

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

Athanasakis E, Licastro D, Faletra F, Fabretto A, Dipresa S, Vozzi D, Morgan A, d'Adamo AP, Pecile V, Biarnés X, Gasparini P. Athanasakis E, et al. Among authors: faletra f. Am J Med Genet A. 2014 Jan;164A(1):170-6. doi: 10.1002/ajmg.a.36274. Epub 2013 Dec 4. Am J Med Genet A. 2014. PMID: 24307393

8

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.

Gandin I, Faletra F, Faletra F, Carella M, Pecile V, Ferrero GB, Biamino E, Palumbo P, Palumbo O, Bosco P, Romano C, Belcaro C, Vozzi D, d'Adamo AP. Gandin I, et al. Among authors: faletra f. Genet Med. 2015 May;17(5):396-9. doi: 10.1038/gim.2014.118. Epub 2014 Sep 18. Genet Med. 2015. PMID: 25232855 Free article.

9

"Blaschkoid dyspigmentation" in a child: don't forget fibroblast chromosomal analysis.

Gortani G, Faletra F, Bruno I, Berti I, Ventura A. Gortani G, et al. Among authors: faletra f. J Pediatr. 2015 Feb;166(2):490-90.e1. doi: 10.1016/j.jpeds.2014.10.028. Epub 2014 Nov 27. J Pediatr. 2015. PMID: 25433905 No abstract available.

10

A brain and heart connection: X-linked periventricular heterotopia.

Naviglio S, Bruno I, Zanus C, Faletra F, Ventura A. Naviglio S, et al. Among authors: faletra f. J Pediatr. 2015 Mar;166(3):776. doi: 10.1016/j.jpeds.2014.11.037. Epub 2014 Dec 31. J Pediatr. 2015. PMID: 25557968 No abstract available.

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