Publications by authors named "Stefania Gimelli"

65Publications

Generation of human induced pluripotent stem cell line UNIGEi003-A from skin fibroblasts of an apparently healthy male donor.

Authors:
Erika Cosset Tieng Vannary Frédérique Sloan-Béna Stefania Gimelli Eric Gerstel Karl-Heinz Krause Antoine Marteyn

Stem Cell Res 2020 10 3;48:101928. Epub 2020 Aug 3.

Laboratory of Tumor Immunology, Translational Research Center in Onco-Hematology, Department of Internal Medicine Specialties, Faculty of Medicine, University of Geneva, Geneva, Switzerland. Electronic address:

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.scr.2020.101928DOI Listing
October 2020

MECP2 duplication syndrome in a patient from Cameroon.

Authors:
Cedrik Tekendo-Ngongang Sophie Dahoun Séraphin Nguefack Isabelle Moix Stefania Gimelli Huguette Zambo Michael A Morris Frédérique Sloan-Béna Ambroise Wonkam

Am J Med Genet A 2020 04 13;182(4):619-622. Epub 2020 Feb 13.

Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/ajmg.a.61510DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7450984PMC
April 2020

The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice.

Authors:
Stefan Bagheri-Fam Huijun Chen Sean Wilson Katie Ayers James Hughes Frederique Sloan-Bena Pierre Calvel Gorjana Robevska Beatriz Puisac Kamila Kusz-Zamelczyk Stefania Gimelli Anna Spik Jadwiga Jaruzelska Alina Warenik-Szymankiewicz Sultana Faradz Serge Nef Juan Pié Paul Thomas Andrew Sinclair Dagmar Wilhelm

PLoS One 2020 7;15(1):e0227411. Epub 2020 Jan 7.

Department of Anatomy & Neuroscience, The University of Melbourne, Melbourne, Australia.

View Article

Download full-text PDF

 Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0227411PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6946174PMC
April 2020

Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease.

Authors:
Francesca Lantieri Stefania Gimelli Chiara Viaggi Elissavet Stathaki Michela Malacarne Giuseppe Santamaria Alice Grossi Manuela Mosconi Frédérique Sloan-Béna Alessio Pini Prato Domenico Coviello Isabella Ceccherini

Orphanet J Rare Dis 2019 11 25;14(1):270. Epub 2019 Nov 25.

U.O.C. Genetica Medica, IRCCS, Istituto Giannina Gaslini, 16148, Genoa, Italy.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1186/s13023-019-1205-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878652PMC
November 2019

Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.

Authors:
Nelle Lambert Corinne Dauve Emmanuelle Ranza Periklis Makrythanasis Federico Santoni Frédérique Sloan-Béna Stefania Gimelli Jean-Louis Blouin Michel Guipponi Armand Bottani Stylianos E Antonarakis Markus M Kosel Joel Fluss Ariane Paoloni-Giacobino

J Hum Genet 2018 Jul 1;63(7):847-850. Epub 2018 May 1.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.

View Article

Download full-text PDF

 Source
http://www.nature.com/articles/s10038-018-0459-2
Publisher Site
http://dx.doi.org/10.1038/s10038-018-0459-2DOI Listing
July 2018

Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation.

Authors:
Francesca Lantieri Michela Malacarne Stefania Gimelli Giuseppe Santamaria Domenico Coviello Isabella Ceccherini

Int J Mol Sci 2017 Mar 10;18(3). Epub 2017 Mar 10.

UOC Genetica Medica, Istituto Giannina Gaslini, L. go G. Gaslini 5, 16148 Genoa, Italy.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.3390/ijms18030609DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5372625PMC
March 2017

Heterozygous Deletion of Chorein Exons 70-73 and GNA14 Exons 3-7 in a Brazilian Patient Presenting With Probable Tau-Negative Early-Onset Alzheimer Disease.

Authors:
Maciej J Lazarczyk Sven Haller Armand Savioz Stefania Gimelli Frédérique Bena Panteleimon Giannakopoulos

Alzheimer Dis Assoc Disord 2017 Jan-Mar;31(1):82-85

Departments of *Medical Direction §Mental Health and Psychiatry ∥Medical Genetic and Laboratories University Hospitals of Geneva ¶Department of Psychiatry, Faculty of Medicine, University of Geneva, Geneva †Affidea CDR-Radiological diagnostic center of Carouge, Geneva, Switzerland ‡Department of Surgical Sciences Radiology, Uppsala University Uppsala, Sweden.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1097/WAD.0000000000000185DOI Listing
February 2019

Assessment of copy number variations in 120 patients with Poland syndrome.

Authors:
Carlotta Maria Vaccari Elisa Tassano Michele Torre Stefania Gimelli Maria Teresa Divizia Maria Victoria Romanini Simone Bossi Ilaria Musante Maura Valle Filippo Senes Nunzio Catena Maria Francesca Bedeschi Anwar Baban Maria Grazia Calevo Massimo Acquaviva Margherita Lerone Roberto Ravazzolo Aldamaria Puliti

BMC Med Genet 2016 Nov 25;17(1):89. Epub 2016 Nov 25.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1186/s12881-016-0351-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5123256PMC
November 2016

Heterozygous Chorein Deficiency in Probable Tau-negative Early-onset Alzheimer Disease.

Authors:
Maciej J Lazarczyk Sven Haller Stefania Gimelli Frédérique Bena Panteleimon Giannakopoulos

Alzheimer Dis Assoc Disord 2016 Jul-Sep;30(3):272-5

Departments of *Mental Health and Psychiatry, Division of General Psychiatry †Imaging and Medical Informatics, University Hospitals of Geneva, Faculty of Medicine of the University of Geneva ‡Department of Medical Genetic and Laboratories, University Hospitals of Geneva, Geneva, Switzerland.

View Article

Download full-text PDF

 Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035148PMC
http://dx.doi.org/10.1097/WAD.0000000000000130DOI Listing
March 2018

Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case.

Authors:
Elisa Tassano Stefania Gimelli Maria Teresa Divizia Margherita Lerone Carlotta Vaccari Aldamaria Puliti Giorgio Gimelli

Mol Cytogenet 2015 5;8:87. Epub 2015 Nov 5.

Laboratorio di Citogentica, Istituto Giannina Gaslini, L.go G.Gaslini 5, 16147 Genoa, Italy.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1186/s13039-015-0188-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4635577PMC
November 2015

A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis.

Authors:
Pierre Calvel Kamila Kusz-Zamelczyk Periklis Makrythanasis Damian Janecki Christelle Borel Béatrice Conne Anne Vannier Frédérique Béna Stefania Gimelli Piotr Fichna Stylianos E Antonarakis Serge Nef Jadwiga Jaruzelska

Sex Dev 2015 7;9(5):289-95. Epub 2015 Nov 7.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.

View Article

Download full-text PDF

 Source
https://www.karger.com/Article/FullText/441512
Publisher Site
http://dx.doi.org/10.1159/000441512DOI Listing
September 2016

Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration.

Authors:
Aoife Murray Audrey Letourneau Claudia Canzonetta Elisavet Stathaki Stefania Gimelli Frederique Sloan-Bena Robert Abrehart Pollyanna Goh Shuhui Lim Chiara Baldo Franca Dagna-Bricarelli Saad Hannan Martin Mortensen David Ballard Denise Syndercombe Court Noemi Fusaki Mamoru Hasegawa Trevor G Smart Cleo Bishop Stylianos E Antonarakis Jürgen Groet Dean Nizetic

Stem Cells 2015 Jun;33(6):2077-84

The Blizard Institute, Barts and The London School of Medicine, London, United Kingdom.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/stem.1968DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4737213PMC
June 2015

Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion.

Authors:
Elisa Tassano Vidhya Jagannathan Cord Drögemüller Massimiliano Leoni Marjo K Hytönen Mariasavina Severino Stefania Gimelli Cristina Cuoco Maja Di Rocco Kirsi Sanio Andrew K Groves Tosso Leeb Giorgio Gimelli

Am J Med Genet A 2015 Mar 5;167A(3):537-44. Epub 2015 Feb 5.

Istituto Giannina Gaslini, Genova, Italy.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/ajmg.a.36895DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4591042PMC
March 2015

Challenges in clinical diagnosis of williams-beuren syndrome in sub-saharan africans: case reports from cameroon.

Authors:
Cedrik Tekendo-Ngongang Sophie Dahoun Seraphin Nguefack Stefania Gimelli Frédérique Sloan-Béna Ambroise Wonkam

Mol Syndromol 2014 Dec 29;5(6):287-92. Epub 2014 Nov 29.

Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, Yaoundé, Cameroon ; Division of Human Genetics, University of Cape Town, Cape Town, South Africa.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1159/000369421DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281575PMC
December 2014

Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders.

Authors:
Stefania Gimelli Valeria Capra Maja Di Rocco Massimiliano Leoni Marisol Mirabelli-Badenier Maria Cristina Schiaffino Patrizia Fiorio Cristina Cuoco Giorgio Gimelli Elisa Tassano

Mol Cytogenet 2014 13;7:54. Epub 2014 Aug 13.

Laboratorio di Citogenetica, Istituto G. Gaslini, G.Gaslini 5, Genoa, 16147, Italy.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1186/s13039-014-0054-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4255718PMC
December 2014

Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.

Authors:
Periklis Makrythanasis Mari Nelis Federico A Santoni Michel Guipponi Anne Vannier Frédérique Béna Stefania Gimelli Elisavet Stathaki Samia Temtamy André Mégarbané Amira Masri Mona S Aglan Maha S Zaki Armand Bottani Siv Fokstuen Lorraine Gwanmesia Konstantinos Aliferis Mariana Bustamante Eduardo Georgios Stamoulis Stavroula Psoni Sofia Kitsiou-Tzeli Helen Fryssira Emmanouil Kanavakis Nasir Al-Allawi Abdelaziz Sefiani Sana' Al Hait Siham C Elalaoui Nadine Jalkh Lihadh Al-Gazali Fatma Al-Jasmi Habiba Chaabouni Bouhamed Ebtesam Abdalla David N Cooper Hanan Hamamy Stylianos E Antonarakis

Hum Mutat 2014 Oct 18;35(10):1203-10. Epub 2014 Aug 18.

Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/humu.22617DOI Listing
October 2014

De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome.

Authors:
Carlotta Maria Vaccari Maria Victoria Romanini Ilaria Musante Elisa Tassano Stefania Gimelli Maria Teresa Divizia Michele Torre Carmen Gloria Morovic Margherita Lerone Roberto Ravazzolo Aldamaria Puliti

BMC Med Genet 2014 May 30;15:63. Epub 2014 May 30.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1186/1471-2350-15-63DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4051386PMC
May 2014

Recurrent microdeletion 2q21.1: report on a new patient with neurological disorders.

Authors:
Stefania Gimelli Elisavet Stathaki Frédérique Béna Massimiliano Leoni Maja Di Rocco Cristina Cuoco Elisa Tassano

Am J Med Genet A 2014 Mar 20;164A(3):801-5. Epub 2013 Dec 20.

Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/ajmg.a.36357DOI Listing
March 2014

Microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism.

Authors:
Amira Masri Stefania Gimelli Hanan Hamamy Frédérique Sloan-Béna

Am J Med Genet A 2014 May 29;164A(5):1254-61. Epub 2014 Jan 29.

Department of Pediatrics, University of Jordan, Amman, Jordan.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/ajmg.a.36412DOI Listing
May 2014

Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21.

Authors:
Youssef Hibaoui Iwona Grad Audrey Letourneau M Reza Sailani Sophie Dahoun Federico A Santoni Stefania Gimelli Michel Guipponi Marie Francoise Pelte Frédérique Béna Stylianos E Antonarakis Anis Feki

EMBO Mol Med 2014 02 27;6(2):259-77. Epub 2013 Dec 27.

Stem Cell Research Laboratory Department of Obstetrics and Gynecology, Geneva University Hospitals, Geneva, Switzerland.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/emmm.201302848DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927959PMC
February 2014

A rare 3q13.31 microdeletion including GAP43 and LSAMP genes.

Authors:
Stefania Gimelli Massimiliano Leoni Maja Di Rocco Gianluca Caridi Simona Porta Cristina Cuoco Giorgio Gimelli Elisa Tassano

Mol Cytogenet 2013 Nov 26;6(1):52. Epub 2013 Nov 26.

Laboratorio di Citogenetica, Istituto G, Gaslini, Genoa, Italy.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1186/1755-8166-6-52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3906914PMC
November 2013

Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations.

Authors:
Elisa Tassano Jens Buttgereit Michael Bader Margherita Lerone Maria Teresa Divizia Renata Bocciardi Flavia Napoli Giovanna Pala Frédérique Sloan-Béna Stefania Gimelli Giorgio Gimelli

PLoS One 2013 21;8(6):e66048. Epub 2013 Jun 21.

Laboratorio di Citogenetica, Istituto G. Gaslini, Genova, Italy.

View Article

Download full-text PDF

 Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0066048PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3689787PMC
October 2017

Identification of an interstitial 18p11.32-p11.31 duplication including the EMILIN2 gene in a family with porokeratosis of Mibelli.

Authors:
Corrado Occella Dario Bleidl Paolo Nozza Samantha Mascelli Alessandro Raso Giorgio Gimelli Stefania Gimelli Elisa Tassano

PLoS One 2013 10;8(4):e61311. Epub 2013 Apr 10.

Unità Operativa di Dermatologia, Istituto Giannina Gaslini, Genova, Italy.

View Article

Download full-text PDF

 Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0061311PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3622678PMC
October 2013

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.

Authors:
Frédérique Béna Damien L Bruno Mats Eriksson Conny van Ravenswaaij-Arts Zornitza Stark Trijnie Dijkhuizen Erica Gerkes Stefania Gimelli Devika Ganesamoorthy Ann Charlotte Thuresson Audrey Labalme Marianne Till Frédéric Bilan Laurent Pasquier Alain Kitzis Christele Dubourgm Massimiliano Rossi Armand Bottani Maryline Gagnebin Damien Sanlaville Brigitte Gilbert-Dussardier Michel Guipponi Arie van Haeringen Marjolein Kriek Claudia Ruivenkamp Stylianos E Antonarakis Britt Marie Anderlid Howard R Slater Jacqueline Schoumans

Am J Med Genet B Neuropsychiatr Genet 2013 Jun 26;162B(4):388-403. Epub 2013 Mar 26.

Service of Genetic Medicine, Geneva University Hospital, Geneva, Switzerland.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/ajmg.b.32148DOI Listing
June 2013

Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspring.

Authors:
Valeria Capra Samantha Mascelli Maria Luisa Garrè Paolo Nozza Carlotta Vaccari Lara Bricco Frédérique Sloan-Béna Stefania Gimelli Cristina Cuoco Giorgio Gimelli Elisa Tassano

PLoS One 2013 6;8(3):e57910. Epub 2013 Mar 6.

Unità Operativa di Neurochirurgia, Istituto Giannina Gaslini,Genova, Italy.

View Article

Download full-text PDF

 Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0057910PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3590287PMC
September 2013

Genomic analysis of cattle rob(1;29).

Authors:
Lisa De Lorenzi Viviana Genualdo Stefania Gimelli Elena Rossi Angela Perucatti Alessandra Iannuzzi Michele Zannotti Luca Malagutti Luciano Molteni Leopoldo Iannuzzi Pietro Parma

Chromosome Res 2012 Oct 9;20(7):815-23. Epub 2012 Oct 9.

Department of Agricultural and Environmental Sciences, Milan University, Via Celoria 2, 20133, Milan, Italy.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1007/s10577-012-9315-yDOI Listing
October 2012

Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.

Authors:
Valeria Capra Marisol Mirabelli-Badenier Michela Stagnaro Andrea Rossi Elisa Tassano Stefania Gimelli Giorgio Gimelli

BMC Med Genet 2012 Oct 4;13:93. Epub 2012 Oct 4.

View Article

Download full-text PDF

 Source
http://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2
Publisher Site
http://dx.doi.org/10.1186/1471-2350-13-93DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3495055PMC
October 2012

Aluminium chloride promotes anchorage-independent growth in human mammary epithelial cells.

Authors:
André-Pascal Sappino Raphaële Buser Laurence Lesne Stefania Gimelli Frédérique Béna Dominique Belin Stefano J Mandriota

J Appl Toxicol 2012 Mar 6;32(3):233-43. Epub 2012 Jan 6.

Division of Oncology, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/jat.1793DOI Listing
March 2012

Familial Poland anomaly revisited.

Authors:
Anwar Baban Michele Torre Sara Costanzo Stefania Gimelli Sebastiano Bianca Maria Teresa Divizia Filippo Maria Sénès Livia Garavelli Francesca Rivieri Margherita Lerone Maura Valle Roberto Ravazzolo Maria Grazia Calevo

Am J Med Genet A 2012 Jan 22;158A(1):140-9. Epub 2011 Nov 22.

Cardiology and Cardiosurgical Department, Bambino Gesù Pediatric Hospital, Rome, Italy.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/ajmg.a.34370DOI Listing
January 2012

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.

Authors:
Pasquale Striano Antonietta Coppola Roberta Paravidino Michela Malacarne Stefania Gimelli Angela Robbiano Monica Traverso Marianna Pezzella Vincenzo Belcastro Amedeo Bianchi Maurizio Elia Antonio Falace Elisabetta Gazzerro Edoardo Ferlazzo Elena Freri Roberta Galasso Giuseppe Gobbi Cristina Molinatto Simona Cavani Orsetta Zuffardi Salvatore Striano Giovanni Battista Ferrero Margherita Silengo Maria Luigia Cavaliere Matteo Benelli Alberto Magi Maria Piccione Franca Dagna Bricarelli Domenico A Coviello Marco Fichera Carlo Minetti Federico Zara

Arch Neurol 2012 Mar 14;69(3):322-30. Epub 2011 Nov 14.

Laboratory of Neurogenetics, Department of Neuroscience, Institute G. Gaslini, Largo Gaslini 5, Genoa, Italy.

View Article

Download full-text PDF

 Source
http://archneur.jamanetwork.com/article.aspx?doi=10.1001/arc
Publisher Site
http://dx.doi.org/10.1001/archneurol.2011.1999DOI Listing
March 2012

Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?

Authors:
Periklis Makrythanasis Stefania Gimelli Frédérique Béna Sophie Dahoun Michael A Morris Stylianos E Antonarakis Armand Bottani

Eur J Med Genet 2012 Jan 10;55(1):63-6. Epub 2011 Nov 10.

Department of Genetic Medicine and Development, Geneva University Medical School, Geneva, Switzerland.

View Article

Download full-text PDF

 Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212110012
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2011.11.001DOI Listing
January 2012

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.

Authors:
Maria Clara Bonaglia Roberto Giorda Silvana Beri Cristina De Agostini Francesca Novara Marco Fichera Lucia Grillo Ornella Galesi Annalisa Vetro Roberto Ciccone Maria Teresa Bonati Sabrina Giglio Renzo Guerrini Sara Osimani Susan Marelli Claudio Zucca Rita Grasso Renato Borgatti Elisa Mani Cristina Motta Massimo Molteni Corrado Romano Donatella Greco Santina Reitano Anna Baroncini Elisabetta Lapi Antonella Cecconi Giulia Arrigo Maria Grazia Patricelli Chiara Pantaleoni Stefano D'Arrigo Daria Riva Francesca Sciacca Bernardo Dalla Bernardina Leonardo Zoccante Francesca Darra Cristiano Termine Emanuela Maserati Stefania Bigoni Emanuela Priolo Armand Bottani Stefania Gimelli Frederique Bena Alfredo Brusco Eleonora di Gregorio Irene Bagnasco Ursula Giussani Lucio Nitsch Pierluigi Politi Maria Luisa Martinez-Frias Maria Luisa Martínez-Fernández Nieves Martínez Guardia Anna Bremer Britt-Marie Anderlid Orsetta Zuffardi

PLoS Genet 2011 Jul 14;7(7):e1002173. Epub 2011 Jul 14.

Cytogenetics Laboratory, Scientific Institute E. Medea, Bosisio Parini, Italy.

View Article

Download full-text PDF

 Source
http://dx.plos.org/10.1371/journal.pgen.1002173
Publisher Site
http://dx.doi.org/10.1371/journal.pgen.1002173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3136441PMC
July 2011

A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc.

Authors:
Patrizia De Marco Alessandro Raso Silvana Beri Stefania Gimelli Elisa Merello Samantha Mascelli Maurizia Baldi Ave Maria Baffico Marco Pavanello Armando Cama Valeria Capra Roberto Giorda Giorgio Gimelli

Eur J Med Genet 2011 Sep-Oct;54(5):e478-83. Epub 2011 Jun 25.

U.O. Neurochirurgia, Istituto G. Gaslini, Genova, Italy.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.ejmg.2011.05.007DOI Listing
December 2011

Cellular diversity within embryonic stem cells: pluripotent clonal sublines show distinct differentiation potential.

Authors:
Yannick Martinez Frédérique Béna Stefania Gimelli Diderik Tirefort Michel Dubois-Dauphin Karl-Heinz Krause Olivier Preynat-Seauve

J Cell Mol Med 2012 Mar;16(3):456-67

Department of Pathology and Immunology, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

View Article

Download full-text PDF

 Source
http://doi.wiley.com/10.1111/j.1582-4934.2011.01334.x
Publisher Site
http://dx.doi.org/10.1111/j.1582-4934.2011.01334.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3822923PMC
March 2012

Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children.

Authors:
Cristina Cuoco Patrizia Ronchetto Stefania Gimelli Frédérique Béna Maria Teresa Divizia Margherita Lerone Marisol Mirabelli-Badenier Monica Mascaretti Giorgio Gimelli

Orphanet J Rare Dis 2011 Apr 1;6:12. Epub 2011 Apr 1.

Laboratorio di Citogenetica, Istituto G. Gaslini, 16147 Genova, Italy.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1186/1750-1172-6-12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3090742PMC
April 2011

Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract.

Authors:
Stefania Gimelli Gianluca Caridi Silvana Beri Kyle McCracken Renata Bocciardi Paola Zordan Monica Dagnino Patrizia Fiorio Luisa Murer Elisa Benetti Orsetta Zuffardi Roberto Giorda James M Wells Giorgio Gimelli Gian Marco Ghiggeri

Hum Mutat 2010 Dec 9;31(12):1352-9. Epub 2010 Nov 9.

Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/humu.21378DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3056145PMC
December 2010

A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).

Authors:
Molly B Sheridan Takema Kato Chad Haldeman-Englert G Reza Jalali Jeff M Milunsky Ying Zou Ruediger Klaes Georgio Gimelli Stefania Gimelli Robert M Gemmill Harry A Drabkin April M Hacker Julia Brown David Tomkins Tamim H Shaikh Hiroki Kurahashi Elaine H Zackai Beverly S Emanuel

Am J Hum Genet 2010 Aug 30;87(2):209-18. Epub 2010 Jul 30.

The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.ajhg.2010.07.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2917714PMC
August 2010

Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation.

Authors:
Stefania Gimelli Maria Teresa Divizia Margherita Lerone Lara Bricco Frédérique Béna Stylianos E Antonarakis Roberto Ravazzolo Giorgio Gimelli

Am J Med Genet A 2010 Aug;152A(8):2130-3

Department of Genetic and Laboratory Medicine, Geneva University Hospital, Geneva, Switzerland.

View Article

Download full-text PDF

 Source
http://doi.wiley.com/10.1002/ajmg.a.33517
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.33517DOI Listing
August 2010

A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.

Authors:
Monica Marini Renata Bocciardi Stefania Gimelli Marco Di Duca Maria T Divizia Anwar Baban Harald Gaspar Isabella Mammi Livia Garavelli Roberto Cerone Francesco Emma Maria F Bedeschi Romano Tenconi Alberto Sensi Andrea Salmaggi Mario Bengala Francesca Mari Gianluca Colussi Krzysztof Szczaluba Stylianos E Antonarakis Marco Seri Margherita Lerone Roberto Ravazzolo

Genet Med 2010 Jul;12(7):431-9

Molecular Genetics and Cytogenetics Unit, G Gaslini Institute, Genova, Italy.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1097/GIM.0b013e3181e21afaDOI Listing
July 2010

Mild intellectual disability associated with a progeny of father-daughter incest: genetic and environmental considerations.

Authors:
Francois Ansermet James Lespinasse Stefania Gimelli Frédérique Béna Ariane Paoloni-Giacobino

J Child Sex Abus 2010 May;19(3):337-44

Geneva University Hospital, Geneva, Switzerland.

View Article

Download full-text PDF

 Source
http://www.tandfonline.com/doi/abs/10.1080/10538711003788991
Publisher Site
http://dx.doi.org/10.1080/10538711003788991DOI Listing
May 2010

A teratocarcinoma-like human embryonic stem cell (hESC) line and four hESC lines reveal potentially oncogenic genomic changes.

Authors:
Outi Hovatta Marisa Jaconi Virpi Töhönen Frédérique Béna Stefania Gimelli Alexis Bosman Frida Holm Stefan Wyder Evgeny M Zdobnov Olivier Irion Peter W Andrews Stylianos E Antonarakis Marco Zucchelli Juha Kere Anis Feki

PLoS One 2010 Apr 23;5(4):e10263. Epub 2010 Apr 23.

Division of Obstetrics and Gynecology, Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden.

View Article

Download full-text PDF

 Source
http://eprints.whiterose.ac.uk/10838/1/Andrews_Terato.pdf
Web Search
http://dx.plos.org/10.1371/journal.pone.0010263
Publisher Site
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0010263PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2859053PMC
April 2010

A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes.

Authors:
Stefania Gimelli Jacqueline Chrast Anwar Baban Charlotte N Henrichsen Margherita Lerone Orsetta Zuffardi Giorgio Gimelli Alexandre Reymond

Am J Med Genet A 2010 May;152A(5):1285-94

Biologia Generale e Genetica Medica, Universita' di Pavia and IRCCS C. Mondino, Pavia, Italy.

View Article

Download full-text PDF

 Source
http://doi.wiley.com/10.1002/ajmg.a.33365
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.33365DOI Listing
May 2010

A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats.

Authors:
Frédérique Béna Stefania Gimelli Eugenia Migliavacca Nathalie Brun-Druc Karin Buiting Stylianos E Antonarakis Andrew J Sharp

Hum Mol Genet 2010 May 23;19(10):1967-73. Epub 2010 Feb 23.

Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.

View Article

Download full-text PDF

 Source
https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
Publisher Site
http://dx.doi.org/10.1093/hmg/ddq075DOI Listing
May 2010

The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia.

Authors:
Pia Irene Anna Rossi Carlotta Maria Vaccari Alessandra Terracciano Laura Doria-Lamba Sabrina Facchinetti Manuela Priolo Carmen Ayuso Laura De Jorge Stefania Gimelli Filippo Maria Santorelli Roberto Ravazzolo Aldamaria Puliti

J Neurol 2010 Apr 19;257(4):598-602. Epub 2009 Nov 19.

Laboratory of Molecular Genetics, G. Gaslini Institute, Largo G. Gaslini 5, 16148, Genoa, Italy.

View Article

Download full-text PDF

 Source
http://link.springer.com/content/pdf/10.1007/s00415-009-5380
Web Search
http://link.springer.com/10.1007/s00415-009-5380-3
Publisher Site
http://dx.doi.org/10.1007/s00415-009-5380-3DOI Listing
April 2010

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.

Authors:
Laura Bernardini Stefania Gimelli Cristina Gervasini Massimo Carella Anwar Baban Giada Frontino Giancarlo Barbano Maria Teresa Divizia Luigi Fedele Antonio Novelli Frédérique Béna Faustina Lalatta Monica Miozzo Bruno Dallapiccola

Orphanet J Rare Dis 2009 Nov 4;4:25. Epub 2009 Nov 4.

Casa Sollievo della Sofferenza Hospital, IRCCS, S San Giovanni Rotondo, Italy.

View Article

Download full-text PDF

 Source
http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-2
Publisher Site
http://dx.doi.org/10.1186/1750-1172-4-25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2777856PMC
November 2009

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.

Authors:
Bernard Thienpont Frédérique Béna Jeroen Breckpot Nicole Philip Björn Menten Hilde Van Esch Emmanuel Scalais Jessica M Salamone Chin-To Fong Jennifer L Kussmann Dorothy K Grange Jerome L Gorski Farah Zahir Siu Li Yong Michael M Morris Stefania Gimelli Jean-Pierre Fryns Geert Mortier Jan M Friedman Laurent Villard Armand Bottani Joris R Vermeesch Sau Wai Cheung Koen Devriendt

J Med Genet 2010 Mar 14;47(3):155-61. Epub 2009 Oct 14.

Center for Human Genetics, K.U. Leuven, Herestraat 49 box 602, Leuven 3000, Belgium.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1136/jmg.2009.070573DOI Listing
March 2010

The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma.

Authors:
Stefania Gimelli Silvana Beri Harry A Drabkin Claudio Gambini Andrea Gregorio Patrizia Fiorio Orsetta Zuffardi Robert M Gemmill Roberto Giorda Giorgio Gimelli

Mol Cancer 2009 Jul 30;8:52. Epub 2009 Jul 30.

Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy.

View Article

Download full-text PDF

 Source
http://molecular-cancer.biomedcentral.com/articles/10.1186/1
Publisher Site
http://dx.doi.org/10.1186/1476-4598-8-52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2727492PMC
July 2009

Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11).

Authors:
Paola Griseri Yvonne Vos Roberto Giorda Stefania Gimelli Silvana Beri Giuseppe Santamaria Guendalina Mognato Robert M W Hofstra Giorgio Gimelli Isabella Ceccherini

Eur J Hum Genet 2009 Apr 29;17(4):483-90. Epub 2008 Oct 29.

Laboratory Molecular Genetics and Cytogenetics, Genova, Italy.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1038/ejhg.2008.191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986215PMC
April 2009

A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms.

Authors:
Antonietta Coppola Pasquale Striano Stefania Gimelli Clotilde Ciampa Lia Santulli Ferdinando Caranci Orsetta Zuffardi Giorgio Gimelli Salvatore Striano Federico Zara

Brain Dev 2010 Mar 11;32(3):248-52. Epub 2009 Feb 11.

Epilepsy Center, Neurology Department, Federico II University, Via Pansini 5, 80131 Naples, Italy.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.braindev.2009.01.003DOI Listing
March 2010

Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome.

Authors:
Valeria Capra Patrizia De Marco Elisa Merello Ave Maria Baffico Maurizia Baldi Maria Teresa Divizia Stefania Gimelli Delphine Mallet Alessandro Raso Samantha Mascelli Paolo Tomà Andrea Rossi Marco Pavanello Armando Cama Cinzia Magnani

Eur J Med Genet 2009 Jan-Feb;52(1):17-22. Epub 2008 Nov 6.

UO Neurochirurgia, Istituto G. Gaslini, 16148 Genova, Italy.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.ejmg.2008.10.005DOI Listing
April 2009

Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms.

Authors:
James Lespinasse Stefania Gimelli Frédérique Béna Stylianos E Antonarakis François Ansermet Ariane Paoloni-Giacobino

Eur J Med Genet 2009 Jan-Feb;52(1):49-52. Epub 2008 Oct 21.

Cytogenetic Laboratory, General Hospital, BP 1125, 73011 Chambery Cedex, France.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.ejmg.2008.10.001DOI Listing
April 2009

Presence of 1q gain and absence of 7p gain are new predictors of local or metastatic relapse in localized resectable neuroblastoma.

Authors:
Annalisa Pezzolo Elena Rossi Stefania Gimelli Federica Parodi Francesca Negri Massimo Conte Angela Pistorio Angela Sementa Vito Pistoia Orsetta Zuffardi Claudio Gambini

Neuro Oncol 2009 Apr 15;11(2):192-200. Epub 2008 Oct 15.

Department of Oncology, IRCCS G. Gaslini Hospital, Genova, Italy.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1215/15228517-2008-086DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2718991PMC
April 2009

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

Authors:
Heather C Mefford Andrew J Sharp Carl Baker Andy Itsara Zhaoshi Jiang Karen Buysse Shuwen Huang Viv K Maloney John A Crolla Diana Baralle Amanda Collins Catherine Mercer Koen Norga Thomy de Ravel Koen Devriendt Ernie M H F Bongers Nicole de Leeuw William Reardon Stefania Gimelli Frederique Bena Raoul C Hennekam Alison Male Lorraine Gaunt Jill Clayton-Smith Ingrid Simonic Soo Mi Park Sarju G Mehta Serena Nik-Zainal C Geoffrey Woods Helen V Firth Georgina Parkin Marco Fichera Santina Reitano Mariangela Lo Giudice Kelly E Li Iris Casuga Adam Broomer Bernard Conrad Markus Schwerzmann Lorenz Räber Sabina Gallati Pasquale Striano Antonietta Coppola John L Tolmie Edward S Tobias Chris Lilley Lluis Armengol Yves Spysschaert Patrick Verloo Anja De Coene Linde Goossens Geert Mortier Frank Speleman Ellen van Binsbergen Marcel R Nelen Ron Hochstenbach Martin Poot Louise Gallagher Michael Gill Jon McClellan Mary-Claire King Regina Regan Cindy Skinner Roger E Stevenson Stylianos E Antonarakis Caifu Chen Xavier Estivill Björn Menten Giorgio Gimelli Susan Gribble Stuart Schwartz James S Sutcliffe Tom Walsh Samantha J L Knight Jonathan Sebat Corrado Romano Charles E Schwartz Joris A Veltman Bert B A de Vries Joris R Vermeesch John C K Barber Lionel Willatt May Tassabehji Evan E Eichler

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly.

Authors:
Virginia M Ginocchio Daniele De Brasi Rita Genesio Roberto Ciccone Stefania Gimelli Francesco Fimiani Teresa de Berardinis Lucio Nitsch Sandro Banfi Adriano Magli Roberto Della Casa

Eur J Med Genet 2008 Nov-Dec;51(6):658-65. Epub 2008 Aug 13.

Department of Pediatrics, Federico II University, Naples, Italy.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.ejmg.2008.07.011DOI Listing
March 2009

Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype.

Authors:
Maria Clara Bonaglia Roberto Ciccone Giorgio Gimelli Stefania Gimelli Susan Marelli Joke Verheij Roberto Giorda Rita Grasso Renato Borgatti Filomena Pagone Laura Rodrìguez Maria-Luisa Martinez-Frias Conny van Ravenswaaij Orsetta Zuffardi

Eur J Hum Genet 2008 Dec 23;16(12):1443-9. Epub 2008 Jul 23.

Scientific Institute E Medea, Bosisio Parini, Lecco, Italy.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1038/ejhg.2008.119DOI Listing
December 2008

A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation.

Authors:
Tiziano Pramparo Manuela de Gregori Stefania Gimelli Roberto Ciccone Domenico Frondizi Thomas Liehr Simona Pellacani Gabriele Masi Paola Brovedani Orsetta Zuffardi Renzo Guerrini

Am J Med Genet A 2008 Jul;146A(13):1754-60

Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy.

View Article

Download full-text PDF

 Source
http://doi.wiley.com/10.1002/ajmg.a.32326
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.32326DOI Listing
July 2008

Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation.

Authors:
Renata Bocciardi Roberto Giorda Jens Buttgereit Stefania Gimelli Maria Teresa Divizia Silvana Beri Silvio Garofalo Sara Tavella Margherita Lerone Orsetta Zuffardi Michael Bader Roberto Ravazzolo Giorgio Gimelli

Hum Mutat 2007 Jul;28(7):724-31

Laboratory of Molecular Genetics, G. Gaslini Institute, Genova, Italy.

View Article

Download full-text PDF

 Source
http://doi.wiley.com/10.1002/humu.20511
Publisher Site
http://dx.doi.org/10.1002/humu.20511DOI Listing
July 2007

Characterization of a recurrent 15q24 microdeletion syndrome.

Authors:
Andrew J Sharp Rebecca R Selzer Joris A Veltman Stefania Gimelli Giorgio Gimelli Pasquale Striano Antonietta Coppola Regina Regan Sue M Price Nine V Knoers Peggy S Eis Han G Brunner Raoul C Hennekam Samantha J L Knight Bert B A de Vries Orsetta Zuffardi Evan E Eichler

Hum Mol Genet 2007 Mar 14;16(5):567-72. Epub 2007 Mar 14.

Department of Genome Sciences, University of Washington School of Medicine, 1705 NE Pacific Street Seattle, WA 98195, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1093/hmg/ddm016DOI Listing
March 2007

The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies.

Authors:
Emanuele Panza Giorgio Gimelli Mario Passalacqua Amnon Cohen Stefania Gimelli Sabrina Giglio Cristina Ghezzi Bianca Sparatore Babett Heye Orsetta Zuffardi Elena Rugarli Thomas Meitinger Giovanni Romeo Roberto Ravazzolo Marco Seri

Int J Mol Med 2007 Mar;19(3):429-35

Laboratorio Genetica Medica, Ospedale S:Orsola Malpighi, Bologna, Italy.

View Article

Download full-text PDF

 Source
March 2007

13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.

Authors:
Lucia Ballarati Elena Rossi Maria Teresa Bonati Stefania Gimelli Paola Maraschio Palma Finelli Sabrina Giglio Elisabetta Lapi Maria Francesca Bedeschi Silvana Guerneri Giulia Arrigo Maria Grazia Patricelli Teresa Mattina Oriana Guzzardi Vanna Pecile Adalgisa Police Gioacchino Scarano Lidia Larizza Orsetta Zuffardi Daniela Giardino

J Med Genet 2007 Jan;44(1):e60

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1136/jmg.2006.043059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2597907PMC
January 2007

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

Authors:
Giorgio Gimelli Stefania Gimelli Nazzareno Dimasi Renata Bocciardi Eliana Di Battista Tiziano Pramparo Orsetta Zuffardi

Eur J Hum Genet 2007 Jan 25;15(1):76-80. Epub 2006 Oct 25.

Laboratorio di Citogenetica, Istituto G Gaslini, Genova, Italy.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1038/sj.ejhg.5201719DOI Listing
January 2007

A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies.

Authors:
Giorgio Gimelli Roberto Giorda Silvana Beri Stefania Gimelli Orsetta Zuffardi

Am J Med Genet A 2006 Jan;140(1):40-5

Laboratorio di Citogenetica, Istituto G. Gaslini, 16148 Genoa, Italy.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/ajmg.a.31044DOI Listing
January 2006

Narrowing the deleted region associated with the 15q21 syndrome.

Authors:
Tiziano Pramparo Teresa Mattina Stefania Gimelli Thomas Liehr Orsetta Zuffardi

Eur J Med Genet 2005 Jul-Sep;48(3):346-52

Biologia Generale e Genetica Medica, Università di Pavia, Via Forlanini, 14-27100 Pavia, Italy.

View Article

Download full-text PDF

 Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212050009
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2005.04.012DOI Listing
November 2005

Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene.

Authors:
Renata Bocciardi Roberto Giorda Valeria Marigo Paola Zordan Donatella Montanaro Stefania Gimelli Marco Seri Margherita Lerone Roberto Ravazzolo Giorgio Gimelli

Hum Mutat 2005 Nov;26(5):426-36

Laboratory of Molecular Genetics, G. Gaslini Institute, Genova, Italy.

View Article

Download full-text PDF

 Source
http://doi.wiley.com/10.1002/humu.20235
Publisher Site
http://dx.doi.org/10.1002/humu.20235DOI Listing
November 2005