Publications by authors named "Massimo Carella"

100Publications

Pyntacle: a parallel computing-enabled framework for large-scale network biology analysis.

Gigascience 2020 Oct;9(10)

IRCCS Casa Sollievo della Sofferenza, Laboratory of Bioinformatics, Viale Cappuccini 1, 71013, San Giovanni Rotondo (FG), Italy.

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http://dx.doi.org/10.1093/gigascience/giaa115DOI Listing
October 2020

A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features.

Genes (Basel) 2020 Jun 26;11(6). Epub 2020 Jun 26.

Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, Italy.

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http://dx.doi.org/10.3390/genes11060707DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7349372PMC
June 2020

Compound Phenotype Due to Recessive Variants in and Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing.

Genes (Basel) 2020 03 31;11(4). Epub 2020 Mar 31.

Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (Foggia), Italy.

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http://dx.doi.org/10.3390/genes11040379DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7230222PMC
March 2020

Novel Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome.

Genes (Basel) 2019 11 25;10(12). Epub 2019 Nov 25.

Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71043 San Giovanni Rotondo (Foggia), Italy.

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http://dx.doi.org/10.3390/genes10120967DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947605PMC
November 2019

microRNA-mRNA network model in patients with achalasia.

Neurogastroenterol Motil 2020 03 26;32(3):e13764. Epub 2019 Nov 26.

Gastroenterology Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.

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http://dx.doi.org/10.1111/nmo.13764DOI Listing
March 2020

Pulmonary embolism associated with transfusion after severe post-partum haemorrhage: is less more?

Blood Transfus 2020 01 12;18(1):13-19. Epub 2019 Sep 12.

Immunohaematology and Transfusion Medicine Service, Azienda Ospedaliero-Universitaria Consorziale Policlinico di Bari, Italy.

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http://dx.doi.org/10.2450/2019.0060-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7053526PMC
January 2020

Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription.

Mol Genet Genomic Med 2019 09 25;7(9):e855. Epub 2019 Jul 25.

Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.

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http://dx.doi.org/10.1002/mgg3.855DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732270PMC
September 2019

Free d-aspartate triggers NMDA receptor-dependent cell death in primary cortical neurons and perturbs JNK activation, Tau phosphorylation, and protein SUMOylation in the cerebral cortex of mice lacking d-aspartate oxidase activity.

Exp Neurol 2019 07 26;317:51-65. Epub 2019 Feb 26.

Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, University of Campania Luigi Vanvitelli, 81100, Caserta, Italy; Laboratory of Behavioural Neuroscience, Ceinge Biotecnologie Avanzate, 80145, Naples, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.expneurol.2019.02.014DOI Listing
July 2019

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway.

Eur J Hum Genet 2019 07 20;27(7):1113-1120. Epub 2019 Feb 20.

Fondazione IRCCS Casa Sollievo della Sofferenza, Division of Medical Genetics, San Giovanni Rotondo, FG, Italy.

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http://dx.doi.org/10.1038/s41431-019-0350-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777633PMC
July 2019

The Emerging Role of Altered d-Aspartate Metabolism in Schizophrenia: New Insights From Preclinical Models and Human Studies.

Front Psychiatry 2018 6;9:559. Epub 2018 Nov 6.

Laboratory of Behavioural Neuroscience, Ceinge Biotecnologie Avanzate, Naples, Italy.

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http://dx.doi.org/10.3389/fpsyt.2018.00559DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232865PMC
November 2018

Sudden cardiac death in J wave syndrome with short QT associated to a novel mutation in Na 1.8 coding gene SCN10A: First case report for a possible pharmacogenomic role.

J Electrocardiol 2018 Sep - Oct;51(5):809-813. Epub 2018 Jun 9.

Division of Medical Genetics, Poliambulatorio "Giovanni Paolo II", IRCCS Casa Sollievo della Sofferenza, Viale Padre Pio, 71013 San Giovanni Rotondo, FG, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00220736183029
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http://dx.doi.org/10.1016/j.jelectrocard.2018.06.005DOI Listing
October 2019

Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders.

Eur J Med Genet 2018 May 20;61(5):248-252. Epub 2017 Dec 20.

Division of Medical Genetics, Poliambulatorio "Giovanni Paolo II", IRCCS Casa Sollievo della Sofferenza, Viale Padre Pio, 71013 San Giovanni Rotondo, FG, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.12.008DOI Listing
May 2018

Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.

Am J Med Genet A 2018 02 28;176(2):391-398. Epub 2017 Nov 28.

Divisionof Medical Genetics, Poliambulatorio "Giovanni Paolo II," IRCCSCasa Sollievo della Sofferenza, Viale Padre Pio, San Giovanni Rotondo FG, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38559DOI Listing
February 2018

The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variants.

Seizure 2017 Dec 14;53:86-93. Epub 2017 Nov 14.

Medical Genetics Units, IRCCS "Casa Sollievo della Sofferenza", San Giovanni Rotondo, Foggia, Italy.

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http://dx.doi.org/10.1016/j.seizure.2017.11.009DOI Listing
December 2017

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome.

Pediatrics 2017 Jul 20;140(1). Epub 2017 Jun 20.

Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy;

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http://dx.doi.org/10.1542/peds.2016-4311DOI Listing
July 2017

Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature.

Am J Med Genet A 2017 Jul 13;173(7):1922-1930. Epub 2017 Apr 13.

U.O.C. Malattie Metaboliche Genetica Medica, PO Giovanni XXIII, A.O.U. Policlinico Consorziale, Bari, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38253DOI Listing
July 2017

Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing.

Mol Cell Probes 2017 06 3;33:24-27. Epub 2017 Mar 3.

Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.mcp.2017.03.001DOI Listing
June 2017

Wnt5a Drives an Invasive Phenotype in Human Glioblastoma Stem-like Cells.

Cancer Res 2017 02 23;77(4):996-1007. Epub 2016 Dec 23.

IRCSS Casa Sollievo della Sofferenza, ISBReMIT- Institute for Stem Cell Biology, Regenerative Medicine and Innovative Therapies, Italy.

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http://dx.doi.org/10.1158/0008-5472.CAN-16-1693DOI Listing
February 2017

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

Multifaceted enrichment analysis of RNA-RNA crosstalk reveals cooperating micro-societies in human colorectal cancer.

Nucleic Acids Res 2016 05 11;44(9):4025-36. Epub 2016 Apr 11.

Division of Epidemiology and Health Statistics, IRCCS Scientific Institute and Regional General Hospital 'Casa Sollievo della Sofferenza', San Giovanni Rotondo (FG), Italy

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http://dx.doi.org/10.1093/nar/gkw245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4872111PMC
May 2016

Support Vector Machine Based on microRNA Expression Profiles to Predict Histological Origin of Ampullary Carcinoma: Case Report of a Patient Affected From Adenocarcinoma of the Papilla of Vater With Lynch Syndrome.

Pancreas 2016 Apr;45(4):626-9

From the *Division of Gastroenterology and Research Laboratory, †Unit of Biostatistics, ‡Unit of Medical Genetics, §Department of Surgery, IRCCS "Casa Sollievo della Sofferenza" Hospital, San Giovanni Rotondo (FG); and ∥Division of Surgical Oncology, "SS Annunziata" Hospital, Chieti, Italy.

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http://dx.doi.org/10.1097/MPA.0000000000000481DOI Listing
April 2016

Neurological features of 14q24-q32 interstitial deletion: report of a new case.

Mol Cytogenet 2015 24;8:93. Epub 2015 Nov 24.

Division of Neurology, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165 Rome, Italy.

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http://dx.doi.org/10.1186/s13039-015-0196-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4657200PMC
November 2015

Identification and Clinical Characterization of Adult Patients with Multigenerational Diabetes Mellitus.

PLoS One 2015 19;10(8):e0135855. Epub 2015 Aug 19.

Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; Department of Experimental Medicine, "Sapienza" University of Rome, Rome, Italy; Research Unit of Diabetes and Endocrine Diseases, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0135855PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4545999PMC
May 2016

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

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

Genome-wide Pathway Analysis Using Gene Expression Data of Colonic Mucosa in Patients with Inflammatory Bowel Disease.

Inflamm Bowel Dis 2015 Jun;21(6):1260-8

*Division of Gastroenterology, IRCCS "Casa Sollievo della Sofferenza," San Giovanni Rotondo, Italy; †Institute of Intelligent Systems for Automation, National Research Council, CNR-ISSIA Unit, Bari, Italy; ‡Medical Genetics Unit, IRCCS "Casa Sollievo della Sofferenza," San Giovanni Rotondo, Italy; §Innovation and Technological Development Unit, IRCCS "Casa Sollievo della Sofferenza," San Giovanni Rotondo, Italy; and ‖Gastroenterology Unit 2, AOU Careggi Hospital, Florence, Italy.

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http://dx.doi.org/10.1097/MIB.0000000000000370DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4450908PMC
June 2015

A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.

J Hum Genet 2015 Jun 26;60(6):287-93. Epub 2015 Mar 26.

1] Dipartimento di Scienze e Tecnologie Ambientali Biologiche e Farmaceutiche (DISTABIF), Seconda Università degli Studi di Napoli, Caserta, Italy [2] Istituto di Genetica e Biofisica 'Adriano Buzzati-Traverso', Consiglio Nazionale delle Ricerche CNR, Napoli, Italy.

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http://dx.doi.org/10.1038/jhg.2015.29DOI Listing
June 2015

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages.

Nat Genet 2015 Feb 15;47(2):132-41. Epub 2014 Dec 15.

1] Department of Experimental Oncology, European Institute of Oncology (Istituto di Ricovero e Cura a Carattere Scientifico, IRCCS), Milan, Italy. [2] Department of Health Sciences, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1038/ng.3169DOI Listing
February 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

Combined microRNA and ER expression: a new classifier for familial and sporadic breast cancer patients.

J Transl Med 2014 Nov 19;12:319. Epub 2014 Nov 19.

Molecular Genetics Laboratory, IRCCS, Istituto Tumori "Giovanni Paolo II", v,le Orazio Flacco 65, Bari, 70124, Italy.

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http://dx.doi.org/10.1186/s12967-014-0319-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4239401PMC
November 2014

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

Genet Med 2015 May 18;17(5):396-9. Epub 2014 Sep 18.

1] Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy [2] Institute for Maternal and Child Health, IRCCS "Burlo Garofolo," Trieste, Italy.

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http://dx.doi.org/10.1038/gim.2014.118DOI Listing
May 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

EYA1-related disorders: two clinical cases and a literature review.

Int J Pediatr Otorhinolaryngol 2014 Aug 12;78(8):1201-10. Epub 2014 Apr 12.

Department of Neurosciences, Operative Unit of Otolaryngology and Otosurgery, University of Padua, Via Giustiniani, 2, Padua, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2014.03.032DOI Listing
August 2014

Rhodobacter sphaeroides adaptation to high concentrations of cobalt ions requires energetic metabolism changes.

FEMS Microbiol Ecol 2014 May 20;88(2):345-57. Epub 2014 Mar 20.

Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Bari, Italy.

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http://dx.doi.org/10.1111/1574-6941.12303DOI Listing
May 2014

Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case.

Gene 2014 Apr 29;538(2):373-8. Epub 2014 Jan 29.

Dipartimento di Scienze per la Promozione della Salute e Materno Infantile "G. D'ALESSANDRO", Universita' Degli Studi di Palermo, Palermo, Italy.

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http://dx.doi.org/10.1016/j.gene.2014.01.050DOI Listing
April 2014

TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.

Am J Med Genet A 2014 Mar 23;164A(3):828-33. Epub 2014 Jan 23.

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.36363DOI Listing
March 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

Patient affected by neurofibromatosis type 1 and thyroid C-cell hyperplasia harboring pathogenic germ-line mutations in both NF1 and RET genes.

Gene 2014 Feb 21;536(2):332-5. Epub 2013 Dec 21.

Department of Clinical and Experimental Medicine, University of Sassari, Azienda Ospedaliera Universitaria, Sassari, Italy.

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http://dx.doi.org/10.1016/j.gene.2013.12.003DOI Listing
February 2014

Giant breast tumors in a patient with Beckwith-Wiedemann syndrome.

Am J Med Genet A 2014 Jan 8;164A(1):182-5. Epub 2013 Nov 8.

Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36191DOI Listing
January 2014