Romano Tenconi

Romano Tenconi

UNVERIFIED PROFILE

Are you Romano Tenconi?   Register this Author

Register author
Romano Tenconi

Romano Tenconi

Publications by authors named "Romano Tenconi"

Are you Romano Tenconi?   Register this Author

43Publications

1153Reads

44Profile Views

Moyamoya syndrome and 6p chromosome rearrangements: Expanding evidences of a new association.

Eur J Paediatr Neurol 2016 Sep 27;20(5):766-71. Epub 2016 Feb 27.

Pediatric Neurology Unit, Department of Woman and Child Health, University Hospital of Padua, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2016.02.008DOI Listing
September 2016

Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.

Am J Med Genet A 2012 Jul 7;158A(7):1604-11. Epub 2012 Jun 7.

Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Roma, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35419DOI Listing
July 2012

A case of femur-fibular-ulna complex with peculiar metaphyseal changes.

Fetal Pediatr Pathol 2010 ;29(4):255-60

Clinical Genetics, Department of Pediatrics, University of Padua, Via Giustiniani 3, Padua, Italy.

View Article

Download full-text PDF

Source
http://www.tandfonline.com/doi/full/10.3109/1551381100378965
Publisher Site
http://dx.doi.org/10.3109/15513811003789651DOI Listing
September 2010

Is a proper name the proper name? A survey on attitude of clinical geneticists towards eponyms in Italy.

Am J Med Genet A 2010 Mar;152A(3):795-6

Department of Neuroscience, Ophthalmology and Genetics, University of Genova, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33275DOI Listing
March 2010

X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple.

Am J Med Genet A 2009 Nov;149A(11):2464-8

Clinical Genetics Unit, Department of Pediatrics, University of Padova, Padova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33039DOI Listing
November 2009

A case of diploid/triploid mosaicism with dental Blaschko lines.

Clin Dysmorphol 2009 Oct;18(4):232-3

Genetica Clinica, Dipartimento di Pediatria, Università di Padova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0b013e32832dc3aaDOI Listing
October 2009

Neurofibromatosis type 1 and infantile spasms.

Childs Nerv Syst 2009 Feb 19;25(2):211-6. Epub 2008 Sep 19.

Institute of Neurological Science, National Research Council, Viale R. Margherita, 6, Catania, 95124, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-008-0706-5DOI Listing
February 2009

Pesticides and fertility: an epidemiological study in Northeast Italy and review of the literature.

Reprod Toxicol 2008 Sep 3;26(1):13-8. Epub 2008 Jul 3.

North East Registry of Congenital Malformations, Genetica Clinica ed Epidemiologica, Dipartimento Pediatria, Università di Padova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.reprotox.2008.05.062DOI Listing
September 2008

A study of the impact of agricultural pesticide use on the prevalence of birth defects in northeast Italy.

Reprod Toxicol 2007 Jul 3;24(1):1-8. Epub 2007 May 3.

NEI Registry, Genetica Clinica Epidemiologica, Dipartimento Pediatria, Via Giustiniani 3, 35128 Padova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.reprotox.2007.04.066DOI Listing
July 2007

Pregnancy outcome after genetic counselling for prenatal diagnosis of unexpected chromosomal anomaly.

Eur J Obstet Gynecol Reprod Biol 2006 Sep-Oct;128(1-2):77-80. Epub 2006 Mar 9.

Genetica Clinica ed Epidemiologica, Dipartimento Pediatria, Università di Padova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejogrb.2006.01.031DOI Listing
January 2007

A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease.

Neurogenetics 2007 Jan 10;8(1):57-60. Epub 2006 Oct 10.

Clinical Genetics, Department of Pediatrics, University of Padova, Via Giustiniani 3, 35128, Padua, Italy,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-006-0065-xDOI Listing
January 2007

hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly.

Biochem Biophys Res Commun 2005 Nov 29;337(3):832-9. Epub 2005 Sep 29.

INSERM U638, Faculté de Médicine, Université de Nice, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbrc.2005.09.127DOI Listing
November 2005

Three cases with de novo 6q imbalance and variable prenatal phenotype.

Am J Med Genet A 2005 Jul;136(3):254-8

Dipartimento di Medicina, Chirurgia ed Odontoiatria, Genetica Medica, Università degli Studi di Milano, Milano, Italia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30837DOI Listing
July 2005

Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene.

Genomics 2005 Feb;85(2):273-9

Department of Biology and Genetics, Medical Faculty, University of Milan, via Viotti 3/5, 20133 Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ygeno.2004.10.014DOI Listing
February 2005

Re: "parity and the risk of Down's syndrome".

Am J Epidemiol 2004 Sep;160(6):610; author reply 611

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/aje/kwh241DOI Listing
September 2004

Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions.

Hum Genet 2004 Jun 21;115(1):69-80. Epub 2004 Apr 21.

Department of Biology and Genetics, Medical Faculty, University of Milan, via Viotti 3/5, 20133, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-004-1101-2DOI Listing
June 2004

Toward the effective surveillance of hypospadias.

Environ Health Perspect 2004 Mar;112(3):398-402

EUROCAT Central Registry, University of Ulster, Room 15E12, Newtownabbey, County Antrim, Northern Ireland BT37 0QB, UK.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1241874PMC
http://dx.doi.org/10.1289/ehp.6398DOI Listing
March 2004

Mutational spectrum of the CTNS gene in Italy.

Eur J Hum Genet 2003 Jul;11(7):503-8

Clinical Genetics, Department of Pediatrics, University of Padua, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5200993DOI Listing
July 2003