Publications by authors named "Federica Tamburrino"

14Publications

Corrigendum to "Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders" [Gene 706 (2019) 162-171].

Gene 2020 04 6;735:144393. Epub 2020 Feb 6.

Unit of Medical Genetics, Department of Medical and Surgical Sciences, Policlinico St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2020.144393DOI Listing
April 2020

Novel Mutations and Unreported Clinical Features in KBG Syndrome.

Mol Syndromol 2019 May 15;10(3):130-138. Epub 2019 Jan 15.

Rare Disease Unit, Department of Pediatrics, St. Orsola-Malpighi Hospital, Bologna, Italy.

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http://dx.doi.org/10.1159/000496172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6528090PMC
May 2019

Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders.

Gene 2019 Jul 11;706:162-171. Epub 2019 May 11.

Unit of Medical Genetics, Department of Medical and Surgical Sciences, Policlinico St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2019.05.007DOI Listing
July 2019

Neuropsychiatric phenotype in a child with pseudohypoparathyroidism.

J Pediatr Neurosci 2016 Jul-Sep;11(3):267-270

Department of Pediatrics, Pediatric Endocrinology and Rare Diseases Unit, S. Orsola-Malpighi University Hospital, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.4103/1817-1745.193373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5108139PMC
November 2016

The Influence of Growth Hormone Treatment on Glucose Homeostasis in GrowthHormone-Deficient Children: A Six-Year Follow-Up Study.

Horm Res Paediatr 2016 6;86(3):196-200. Epub 2016 Sep 6.

Department of Woman, Child and Urologic Diseases, S. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1159/000448841DOI Listing
April 2017

Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data.

Am J Med Genet A 2015 Nov 31;167A(11):2786-94. Epub 2015 Jul 31.

Pediatric Endocrinology and Rare Diseases Unit, Department of Pediatrics, S.Orsola-Malpighi University Hospital-University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37260DOI Listing
November 2015

GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome).

Am J Med Genet A 2013 Nov 3;161A(11):2756-61. Epub 2013 Oct 3.

Pediatric Endocrinology and Rare Diseases, Department of Pediatrics, S.Orsola-Malpighi University Hospital - University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36255DOI Listing
November 2013

Turner syndrome strategies to improve care outcomes--cardiac evaluation using new imaging techniques.

Pediatr Endocrinol Rev 2012 May;9 Suppl 2:701-9

Rare Disease and Auxology Unit, Department of Paediatrics, University of Bologna, S.Orsola-Malpighi Hospital, Bologna, Italy.

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May 2012

Correlations of phenotype and genotype in relation to morphologic remodelling of the aortic root in patients with Turner's syndrome.

Cardiol Young 2009 Jun 6;19(3):264-71. Epub 2009 Apr 6.

Pediatric Cardiology and Adult Congenital Unit, University of Bologna, Via Massarenti 9, Bologna, Italy.

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http://dx.doi.org/10.1017/S1047951109004016DOI Listing
June 2009

Developmental syndromes: growth hormone deficiency and treatment.

Endocr Dev 2009 27;14:114-34. Epub 2009 Feb 27.

Department of Pediatrics, S. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1159/000207481DOI Listing
May 2009