Leopoldo Zelante

Leopoldo Zelante

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Leopoldo Zelante

Publications by authors named "Leopoldo Zelante"

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A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.

J Pediatr Genet 2017 Jun 31;6(2):98-102. Epub 2016 Aug 31.

Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.

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http://dx.doi.org/10.1055/s-0036-1588029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5423807PMC
June 2017

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.

J Hum Genet 2016 Sep 26;61(9):811-21. Epub 2016 May 26.

Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy.

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http://dx.doi.org/10.1038/jhg.2016.58DOI Listing
September 2016

Clinical and molecular characterization of a de novo 19p13.3 microdeletion.

Mol Cytogenet 2016 27;9:40. Epub 2016 May 27.

Laboratorio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.

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http://dx.doi.org/10.1186/s13039-016-0252-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4882821PMC
May 2016

Detection of the first OCA6 Italian patient in a large cohort of albino subjects.

J Dermatol Sci 2016 Mar 28;81(3):208-9. Epub 2015 Nov 28.

Medical Genetics Unit-Department of Laboratory Medicine, Niguarda Ca' Granda Hospital, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jdermsci.2015.11.012DOI Listing
March 2016

Maternal uniparental isodisomy (iUPD) of chromosome 4 in a subject with mild intellectual disability and speech delay.

Am J Med Genet A 2015 Sep 21;167A(9):2219-22. Epub 2015 May 21.

Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.

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http://dx.doi.org/10.1002/ajmg.a.37142DOI Listing
September 2015

De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes.

Mol Cytogenet 2015 16;8:66. Epub 2015 Aug 16.

Laboratorio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, (FG) Italy.

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http://dx.doi.org/10.1186/s13039-015-0170-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4537544PMC
August 2015

Microdeletion of 12q24.31: report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms.

Am J Med Genet A 2015 Feb 26;167A(2):438-44. Epub 2014 Nov 26.

Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.

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http://dx.doi.org/10.1002/ajmg.a.36872DOI Listing
February 2015

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

Authors:
Dan E Arking Sara L Pulit Lia Crotti Pim van der Harst Patricia B Munroe Tamara T Koopmann Nona Sotoodehnia Elizabeth J Rossin Michael Morley Xinchen Wang Andrew D Johnson Alicia Lundby Daníel F Gudbjartsson Peter A Noseworthy Mark Eijgelsheim Yuki Bradford Kirill V Tarasov Marcus Dörr Martina Müller-Nurasyid Annukka M Lahtinen Ilja M Nolte Albert Vernon Smith Joshua C Bis Aaron Isaacs Stephen J Newhouse Daniel S Evans Wendy S Post Daryl Waggott Leo-Pekka Lyytikäinen Andrew A Hicks Lewin Eisele David Ellinghaus Caroline Hayward Pau Navarro Sheila Ulivi Toshiko Tanaka David J Tester Stéphanie Chatel Stefan Gustafsson Meena Kumari Richard W Morris Åsa T Naluai Sandosh Padmanabhan Alexander Kluttig Bernhard Strohmer Andrie G Panayiotou Maria Torres Michael Knoflach Jaroslav A Hubacek Kamil Slowikowski Soumya Raychaudhuri Runjun D Kumar Tamara B Harris Lenore J Launer Alan R Shuldiner Alvaro Alonso Joel S Bader Georg Ehret Hailiang Huang W H Linda Kao James B Strait Peter W Macfarlane Morris Brown Mark J Caulfield Nilesh J Samani Florian Kronenberg Johann Willeit J Gustav Smith Karin H Greiser Henriette Meyer Zu Schwabedissen Karl Werdan Massimo Carella Leopoldo Zelante Susan R Heckbert Bruce M Psaty Jerome I Rotter Ivana Kolcic Ozren Polašek Alan F Wright Maura Griffin Mark J Daly David O Arnar Hilma Hólm Unnur Thorsteinsdottir Joshua C Denny Dan M Roden Rebecca L Zuvich Valur Emilsson Andrew S Plump Martin G Larson Christopher J O'Donnell Xiaoyan Yin Marco Bobbo Adamo P D'Adamo Annamaria Iorio Gianfranco Sinagra Angel Carracedo Steven R Cummings Michael A Nalls Antti Jula Kimmo K Kontula Annukka Marjamaa Lasse Oikarinen Markus Perola Kimmo Porthan Raimund Erbel Per Hoffmann Karl-Heinz Jöckel Hagen Kälsch Markus M Nöthen Marcel den Hoed Ruth J F Loos Dag S Thelle Christian Gieger Thomas Meitinger Siegfried Perz Annette Peters Hanna Prucha Moritz F Sinner Melanie Waldenberger Rudolf A de Boer Lude Franke Pieter A van der Vleuten Britt Maria Beckmann Eimo Martens Abdennasser Bardai Nynke Hofman Arthur A M Wilde Elijah R Behr Chrysoula Dalageorgou John R Giudicessi Argelia Medeiros-Domingo Julien Barc Florence Kyndt Vincent Probst Alice Ghidoni Roberto Insolia Robert M Hamilton Stephen W Scherer Jeffrey Brandimarto Kenneth Margulies Christine E Moravec Fabiola del Greco M Christian Fuchsberger Jeffrey R O'Connell Wai K Lee Graham C M Watt Harry Campbell Sarah H Wild Nour E El Mokhtari Norbert Frey Folkert W Asselbergs Irene Mateo Leach Gerjan Navis Maarten P van den Berg Dirk J van Veldhuisen Manolis Kellis Bouwe P Krijthe Oscar H Franco Albert Hofman Jan A Kors André G Uitterlinden Jacqueline C M Witteman Lyudmyla Kedenko Claudia Lamina Ben A Oostra Gonçalo R Abecasis Edward G Lakatta Antonella Mulas Marco Orrú David Schlessinger Manuela Uda Marcello R P Markus Uwe Völker Harold Snieder Timothy D Spector Johan Ärnlöv Lars Lind Johan Sundström Ann-Christine Syvänen Mika Kivimaki Mika Kähönen Nina Mononen Olli T Raitakari Jorma S Viikari Vera Adamkova Stefan Kiechl Maria Brion Andrew N Nicolaides Bernhard Paulweber Johannes Haerting Anna F Dominiczak Fredrik Nyberg Peter H Whincup Aroon D Hingorani Jean-Jacques Schott Connie R Bezzina Erik Ingelsson Luigi Ferrucci Paolo Gasparini James F Wilson Igor Rudan Andre Franke Thomas W Mühleisen Peter P Pramstaller Terho J Lehtimäki Andrew D Paterson Afshin Parsa Yongmei Liu Cornelia M van Duijn David S Siscovick Vilmundur Gudnason Yalda Jamshidi Veikko Salomaa Stephan B Felix Serena Sanna Marylyn D Ritchie Bruno H Stricker Kari Stefansson Laurie A Boyer Thomas P Cappola Jesper V Olsen Kasper Lage Peter J Schwartz Stefan Kääb Aravinda Chakravarti Michael J Ackerman Arne Pfeufer Paul I W de Bakker Christopher Newton-Cheh

Nat Genet 2014 Aug 22;46(8):826-36. Epub 2014 Jun 22.

1] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [3] Harvard Medical School, Boston, Massachusetts, USA. [4] Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, USA. [5].

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http://dx.doi.org/10.1038/ng.3014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4124521PMC
August 2014

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Hum Mol Genet 2014 May 30;23(10):2752-68. Epub 2013 Dec 30.

The Centre for Applied Genomics.

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http://dx.doi.org/10.1093/hmg/ddt669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990173PMC
May 2014

TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease.

Hum Mutat 2014 Apr;35(4):447-51

Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland; Swiss Institute of Bioinformatics (SIB), Lausanne, Switzerland.

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http://doi.wiley.com/10.1002/humu.22529
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http://dx.doi.org/10.1002/humu.22529DOI Listing
April 2014

Gene-targeted deletion of OPCML and Neurotrimin in mice does not yield congenital heart defects.

Am J Med Genet A 2014 Apr 10;164A(4):966-74. Epub 2014 Mar 10.

Key Laboratory of Arrhythmia, Ministry of Education, East Hospital, Tongji University School of Medicine, Shanghai, China; Department of Pediatrics, UCSD School of Medicine, San Diego, California.

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http://dx.doi.org/10.1002/ajmg.a.36441DOI Listing
April 2014

Molecular dissection of the VHL gene in solitary capillary hemangioblastoma of the central nervous system.

J Neuropathol Exp Neurol 2014 Jan;73(1):50-8

From the Laboratory of Oncology (LAM, AlT, AF, PP, MC, VMF), and Departmentof Neurosurgery (DC, VDA), IRCCS "Casa Sollievo della Sofferenza," San Giovanni Rotondo; IRCCS-CROB, Referral Cancer Center of Basilicata, Rionero in Vulture (MB);Medical Genetics Service, Evolutive Age Department (LZ, LDA), and Research Unit of Diabetes and Endocrine Diseases (GF), IRCCS "Casa Sollievo della Sofferenza," San Giovanni Rotondo; Department of Neurosurgery, "San Filippo Neri" Hospital, Rome (AT); and Laboratory of Molecular Medicine and Biotechnology, Interdisciplinary Center for Biomedical Research, University Campus BioMedico, Rome (VMF), Italy.

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http://dx.doi.org/10.1097/NEN.0000000000000024DOI Listing
January 2014

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene.

BMC Med Genet 2014 Jan 28;15:15. Epub 2014 Jan 28.

Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via Sergio Pansini 5, 80131 Naples, Italy.

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http://dx.doi.org/10.1186/1471-2350-15-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925134PMC
January 2014

Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.

Am J Med Genet A 2013 Nov 7;161A(11):2894-901. Epub 2013 Oct 7.

Clinical Genetics Unit, Obstetric and Paediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale S Maria Nuova, Reggio Emilia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36259DOI Listing
November 2013

VHL gene alterations in Italian patients with isolated renal cell carcinomas.

Int J Biol Markers 2013 Jun 28;28(2):208-15. Epub 2013 Jun 28.

Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Foggia, Italy.

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http://dx.doi.org/10.5301/jbm.5000011DOI Listing
June 2013

8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: case report and critical review of the literature.

Gene 2013 Jan 7;513(1):209-13. Epub 2012 Nov 7.

Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.

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http://dx.doi.org/10.1016/j.gene.2012.09.132DOI Listing
January 2013

An emerging phenotype of interstitial 15q25.2 microdeletions: clinical report and review.

Am J Med Genet A 2012 Dec 19;158A(12):3182-9. Epub 2012 Nov 19.

Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.

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http://dx.doi.org/10.1002/ajmg.a.35631DOI Listing
December 2012

CASR gene activating mutations in two families with autosomal dominant hypocalcemia.

Mol Genet Metab 2012 Nov 26;107(3):548-52. Epub 2012 Jun 26.

Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, viale Padre Pio, 71013 San Giovanni Rotondo, FG, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2012.06.012DOI Listing
November 2012

Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.

Mol Genet Metab 2012 Nov 6;107(3):627-9. Epub 2012 Jul 6.

Unita' Operativa di Genetica Medica, Azienda Ospedaliera Bianchi-Melacrino-Morelli, Reggio Calabria, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2012.06.019DOI Listing
November 2012

Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.

Mol Vis 2011 24;17:2482-94. Epub 2011 Sep 24.

Unità di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3185016PMC
January 2012

Identification of a novel RUNX2 gene mutation in an Italian family with cleidocranial dysplasia.

Eur J Orthod 2011 Oct 3;33(5):498-502. Epub 2010 Dec 3.

Department of Orthodontics and Gnathology-Masticatory Function, University of Turin, Turin, Italy.

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http://dx.doi.org/10.1093/ejo/cjq107DOI Listing
October 2011

Small deletion at the 7q21.2 locus in a CCM family detected by real-time quantitative PCR.

J Biomed Biotechnol 2010 27;2010. Epub 2010 Jul 27.

Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, 71013 San Giovanni Rotondo (FG), Italy.

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http://dx.doi.org/10.1155/2010/854737DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2926733PMC
December 2010

Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda.

Hum Genet 2010 Apr;127(4):474

FG, IRCCS Hospital CSS, San Giovanni Rotondo, Italy.

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April 2010

Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss.

Int J Pediatr Otorhinolaryngol 2009 Oct 16;73(10):1458-63. Epub 2009 Jul 16.

Servizio di Audiologia e Foniatria, Dipartimento Specialità Medico-Chirurgiche, University of Padua, Via Giustiniani, 2, 35128 Padova, Italy.

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http://dx.doi.org/10.1016/j.ijporl.2009.06.003DOI Listing
October 2009

A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family.

Int J Pediatr Otorhinolaryngol 2009 Jan 5;73(1):127-31. Epub 2008 Nov 5.

Servizio di Genetica Medica, IRCCS-Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.

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http://dx.doi.org/10.1016/j.ijporl.2008.09.019DOI Listing
January 2009

Are MYO1C and MYO1F associated with hearing loss?

Biochim Biophys Acta 2009 Jan 5;1792(1):27-32. Epub 2008 Nov 5.

Unit of Medical Genetics, Department of Reproductive Science and Development, Institute for Maternal and Child Health - IRCCS "Burlo Garofolo" - Trieste, Italy.

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http://dx.doi.org/10.1016/j.bbadis.2008.10.017DOI Listing
January 2009

Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort.

Int J Audiol 2009 Jan;48(1):12-7

Servizio di Audiologia e Foniatria, Dipartimento Specialita Medico-Chirurgiche, University of Padua, Padova, Italy.

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http://dx.doi.org/10.1080/14992020802400654DOI Listing
January 2009

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.

Hum Genet 2007 Sep;122(2):207

Servizio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, FG, Viale Padre Pio, 1, 71013, San Giovanni Rotondo, Italy.

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http://link.springer.com/10.1007/s00439-007-0398-z
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http://dx.doi.org/10.1007/s00439-007-0398-zDOI Listing
September 2007

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.

Hum Genet 2007 Sep;122(2):208

Servizio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, FG, Viale Padre Pio, 1, 71013, San Giovanni Rotondo, Italy.

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September 2007

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.

Hum Genet 2007 Sep;122(2):208

Servizio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, FG, Viale Padre Pio, 1, 71013, San Giovanni Rotondo, Italy.

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September 2007

Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.

Hum Genet 2007 Sep;122(2):208

Servizio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, FG, Viale Padre Pio, 1, 71013, San Giovanni Rotondo, Italy.

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September 2007

Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.

Hum Genet 2007 Sep;122(2):209

Servizio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, FG, Viale Padre Pio, 1, 71013, San Giovanni Rotondo, Italy.

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September 2007

Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.

Hum Genet 2007 Sep;122(2):209

Servizio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, FG, Viale Padre Pio, 1, 71013, San Giovanni Rotondo, Italy.

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September 2007

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.

Hum Genet 2007 Sep;122(2):210

Servizio di Genetica Medica, IRCCS Casa Sollievo della, Sofferenza, FG, Viale Padre Pio 1, 71013, San Giovanni Rotondo, Italy.

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September 2007

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.

Hum Genet 2007 Sep;122(2):215

Servizio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, FG, Viale Padre Pio, 1, 71013, San Giovanni Rotondo, Italy.

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September 2007

An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytoma.

J Hum Genet 2007 17;52(6):485-91. Epub 2007 Apr 17.

Servizio Genetica Medica, IRCCS Casa Sollievo della Sofferenza, Poliambulatorio Giovanni Paolo II, Viale Padre Pio, 71013, San Giovanni Rotondo, Italy.

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http://link.springer.com/content/pdf/10.1007/s10038-007-0138
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http://www.nature.com/doifinder/10.1007/s10038-007-0138-1
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http://dx.doi.org/10.1007/s10038-007-0138-1DOI Listing
July 2007

Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis.

Biomol Eng 2007 Jun 7;24(2):231-6. Epub 2006 Nov 7.

Medical Genetics Service, IRCCS Casa Sollievo della Sofferenza Hospital, Poliambulatorio Giovanni Paolo II, Viale Padre Pio, San Giovanni Rotondo (FG), Italy.

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http://dx.doi.org/10.1016/j.bioeng.2006.10.003DOI Listing
June 2007

Identification of two novel mutations and of a novel critical region in the KRIT1 gene.

Neurogenetics 2007 Jan 17;8(1):29-37. Epub 2006 Oct 17.

Medical Genetics Service, Poliambulatorio Giovanni Paolo II, IRCCS Casa Sollievo della Sofferenza Hospital, Viale Cappuccini, 71013, San Giovanni Rotondo (FG), Italy.

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http://dx.doi.org/10.1007/s10048-006-0056-yDOI Listing
January 2007

Pathogenetic role of the deafness-related M34T mutation of Cx26.

Hum Mol Genet 2006 Sep 18;15(17):2569-87. Epub 2006 Jul 18.

Dipartimento di Biochimica, Biofisica e Chimica delle Macromolecole, University of Trieste, and Servizio di Genetica Medica, IRCCS-Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.

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http://dx.doi.org/10.1093/hmg/ddl184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2829448PMC
September 2006

Supratentorial cerebral cavernous malformations: clinical, surgical, and genetic involvement.

Neurosurg Focus 2006 Jul 15;21(1):e9. Epub 2006 Jul 15.

Neurosurgical Operative Unit, Neuromed Institute, Medical Genetic Service, Pathology Service, and Radiology Service, Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy.

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http://dx.doi.org/10.3171/foc.2006.21.1.10DOI Listing
July 2006

Molecular analysis of NPHS2 and ACTN4 genes in a series of 33 Italian patients affected by adult-onset nonfamilial focal segmental glomerulosclerosis.

Nephron Clin Pract 2005 21;99(2):c31-6. Epub 2004 Dec 21.

Department of Nephrology and Dialysis, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Italy.

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http://dx.doi.org/10.1159/000082864DOI Listing
April 2006

Indirect CFTR mutation identification by PCR/OLA anomalous electropherograms.

Genet Test 2005 ;9(4):285-91

Medical Genetics Service, IRCCS Hospital Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.

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http://dx.doi.org/10.1089/gte.2005.9.285DOI Listing
April 2006

Shprintzen-Goldberg omphalocele syndrome: a new patient with an expanded phenotype.

Am J Med Genet A 2006 Feb;140(4):383-4

Medical Genetics Service, IRCCS "CSS" Hospital, San Giovanni Rotondo (Fg), Italy.

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http://dx.doi.org/10.1002/ajmg.a.31064DOI Listing
February 2006

Functional characterization of a novel Cx26 (T55N) mutation associated to non-syndromic hearing loss.

Biochem Biophys Res Commun 2005 Nov 28;337(3):799-805. Epub 2005 Sep 28.

Dipartimento di Biochimica, Biofisica e Chimica delle Macromolecole, University of Trieste, Trieste, Italy.

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http://dx.doi.org/10.1016/j.bbrc.2005.09.116DOI Listing
November 2005

Hemangioblastomas of central nervous system: molecular genetic analysis and clinical management.

Neurosurgery 2005 Jun;56(6):1215-21; discussion 1221

Casa Sollievo della Sofferenza Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, San Giovanni Rotondo, Italy.

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http://dx.doi.org/10.1227/01.neu.0000159646.15026.d6DOI Listing
June 2005

Gene symbol: SLC3A1. Disease: Cystinuria.

Hum Genet 2005 May;116(6):541

Centre de Genetica Medica i Molecular (IRO), Hospital Duran i Reynals, Barcelona, Spain.

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May 2005

Rituximab induces different but overlapping sets of genes in human B-lymphoma cell lines.

Cancer Immunol Immunother 2005 Mar 23;54(3):273-86. Epub 2004 Sep 23.

Laboratory of Molecular Immunohaematology, Department of Immunology, Istituto Ricerche Farmacologiche Mario Negri, Milan, Italy.

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http://dx.doi.org/10.1007/s00262-004-0599-4DOI Listing
March 2005

A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype.

Hum Mutat 2004 Mar;23(3):286

Ospedale Casa Sollievo della Sofferenza and Istituto CSS-Mendel, Roma, Italy.

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http://doi.wiley.com/10.1002/humu.9220
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http://dx.doi.org/10.1002/humu.9220DOI Listing
March 2004

Hearing loss: frequency and functional studies of the most common connexin26 alleles.

Biochem Biophys Res Commun 2002 Aug;296(3):685-91

Dipartimento di Biochimica, Biofisica e Chimica delle, Macromolecole, University of Trieste, via Licio Giorgieri 1, I-34127 Trieste, Italy.

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http://dx.doi.org/10.1016/s0006-291x(02)00891-4DOI Listing
August 2002