Lidia Pezzani

Lidia Pezzani

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Lidia Pezzani

Lidia Pezzani

Publications by authors named "Lidia Pezzani"

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Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy.

Am J Med Genet A 2018 12 21;176(12):2867-2871. Epub 2018 Nov 21.

Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.

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http://dx.doi.org/10.1002/ajmg.a.40635DOI Listing
December 2018

Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.

BMC Med Genet 2017 10 18;18(1):115. Epub 2017 Oct 18.

Division of Pathology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico; Department of Pathophysiology & Transplantation, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1186/s12881-017-0470-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5648441PMC
October 2017

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

Authors:
Catherine M Phelan Karoline B Kuchenbaecker Jonathan P Tyrer Siddhartha P Kar Kate Lawrenson Stacey J Winham Joe Dennis Ailith Pirie Marjorie J Riggan Ganna Chornokur Madalene A Earp Paulo C Lyra Janet M Lee Simon Coetzee Jonathan Beesley Lesley McGuffog Penny Soucy Ed Dicks Andrew Lee Daniel Barrowdale Julie Lecarpentier Goska Leslie Cora M Aalfs Katja K H Aben Marcia Adams Julian Adlard Irene L Andrulis Hoda Anton-Culver Natalia Antonenkova Gerasimos Aravantinos Norbert Arnold Banu K Arun Brita Arver Jacopo Azzollini Judith Balmaña Susana N Banerjee Laure Barjhoux Rosa B Barkardottir Yukie Bean Matthias W Beckmann Alicia Beeghly-Fadiel Javier Benitez Marina Bermisheva Marcus Q Bernardini Michael J Birrer Line Bjorge Amanda Black Kenneth Blankstein Marinus J Blok Clara Bodelon Natalia Bogdanova Anders Bojesen Bernardo Bonanni Åke Borg Angela R Bradbury James D Brenton Carole Brewer Louise Brinton Per Broberg Angela Brooks-Wilson Fiona Bruinsma Joan Brunet Bruno Buecher Ralf Butzow Saundra S Buys Trinidad Caldes Maria A Caligo Ian Campbell Rikki Cannioto Michael E Carney Terence Cescon Salina B Chan Jenny Chang-Claude Stephen Chanock Xiao Qing Chen Yoke-Eng Chiew Jocelyne Chiquette Wendy K Chung Kathleen B M Claes Thomas Conner Linda S Cook Jackie Cook Daniel W Cramer Julie M Cunningham Aimee A D'Aloisio Mary B Daly Francesca Damiola Sakaeva Dina Damirovna Agnieszka Dansonka-Mieszkowska Fanny Dao Rosemarie Davidson Anna DeFazio Capucine Delnatte Kimberly F Doheny Orland Diez Yuan Chun Ding Jennifer Anne Doherty Susan M Domchek Cecilia M Dorfling Thilo Dörk Laure Dossus Mercedes Duran Matthias Dürst Bernd Dworniczak Diana Eccles Todd Edwards Ros Eeles Ursula Eilber Bent Ejlertsen Arif B Ekici Steve Ellis Mingajeva Elvira Kevin H Eng Christoph Engel D Gareth Evans Peter A Fasching Sarah Ferguson Sandra Fert Ferrer James M Flanagan Zachary C Fogarty Renée T Fortner Florentia Fostira William D Foulkes George Fountzilas Brooke L Fridley Tara M Friebel Eitan Friedman Debra Frost Patricia A Ganz Judy Garber María J García Vanesa Garcia-Barberan Andrea Gehrig Aleksandra Gentry-Maharaj Anne-Marie Gerdes Graham G Giles Rosalind Glasspool Gord Glendon Andrew K Godwin David E Goldgar Teodora Goranova Martin Gore Mark H Greene Jacek Gronwald Stephen Gruber Eric Hahnen Christopher A Haiman Niclas Håkansson Ute Hamann Thomas V O Hansen Patricia A Harrington Holly R Harris Jan Hauke Alexander Hein Alex Henderson Michelle A T Hildebrandt Peter Hillemanns Shirley Hodgson Claus K Høgdall Estrid Høgdall Frans B L Hogervorst Helene Holland Maartje J Hooning Karen Hosking Ruea-Yea Huang Peter J Hulick Jillian Hung David J Hunter David G Huntsman Tomasz Huzarski Evgeny N Imyanitov Claudine Isaacs Edwin S Iversen Louise Izatt Angel Izquierdo Anna Jakubowska Paul James Ramunas Janavicius Mats Jernetz Allan Jensen Uffe Birk Jensen Esther M John Sharon Johnatty Michael E Jones Päivi Kannisto Beth Y Karlan Anthony Karnezis Karin Kast Catherine J Kennedy Elza Khusnutdinova Lambertus A Kiemeney Johanna I Kiiski Sung-Won Kim Susanne K Kjaer Martin Köbel Reidun K Kopperud Torben A Kruse Jolanta Kupryjanczyk Ava Kwong Yael Laitman Diether Lambrechts Nerea Larrañaga Melissa C Larson Conxi Lazaro Nhu D Le Loic Le Marchand Jong Won Lee Shashikant B Lele Arto Leminen Dominique Leroux Jenny Lester Fabienne Lesueur Douglas A Levine Dong Liang Clemens Liebrich Jenna Lilyquist Loren Lipworth Jolanta Lissowska Karen H Lu Jan Lubinński Craig Luccarini Lene Lundvall Phuong L Mai Gustavo Mendoza-Fandiño Siranoush Manoukian Leon F A G Massuger Taymaa May Sylvie Mazoyer Jessica N McAlpine Valerie McGuire John R McLaughlin Iain McNeish Hanne Meijers-Heijboer Alfons Meindl Usha Menon Arjen R Mensenkamp Melissa A Merritt Roger L Milne Gillian Mitchell Francesmary Modugno Joanna Moes-Sosnowska Melissa Moffitt Marco Montagna Kirsten B Moysich Anna Marie Mulligan Jacob Musinsky Katherine L Nathanson Lotte Nedergaard Roberta B Ness Susan L Neuhausen Heli Nevanlinna Dieter Niederacher Robert L Nussbaum Kunle Odunsi Edith Olah Olufunmilayo I Olopade Håkan Olsson Curtis Olswold David M O'Malley Kai-Ren Ong N Charlotte Onland-Moret Nicholas Orr Sandra Orsulic Ana Osorio Domenico Palli Laura Papi Tjoung-Won Park-Simon James Paul Celeste L Pearce Inge Søkilde Pedersen Petra H M Peeters Bernard Peissel Ana Peixoto Tanja Pejovic Liisa M Pelttari Jennifer B Permuth Paolo Peterlongo Lidia Pezzani Georg Pfeiler Kelly-Anne Phillips Marion Piedmonte Malcolm C Pike Anna M Piskorz Samantha R Poblete Timea Pocza Elizabeth M Poole Bruce Poppe Mary E Porteous Fabienne Prieur Darya Prokofyeva Elizabeth Pugh Miquel Angel Pujana Pascal Pujol Paolo Radice Johanna Rantala Christine Rappaport-Fuerhauser Gad Rennert Kerstin Rhiem Patricia Rice Andrea Richardson Mark Robson Gustavo C Rodriguez Cristina Rodríguez-Antona Jane Romm Matti A Rookus Mary Anne Rossing Joseph H Rothstein Anja Rudolph Ingo B Runnebaum Helga B Salvesen Dale P Sandler Minouk J Schoemaker Leigha Senter V Wendy Setiawan Gianluca Severi Priyanka Sharma Tameka Shelford Nadeem Siddiqui Lucy E Side Weiva Sieh Christian F Singer Hagay Sobol Honglin Song Melissa C Southey Amanda B Spurdle Zsofia Stadler Doris Steinemann Dominique Stoppa-Lyonnet Lara E Sucheston-Campbell Grzegorz Sukiennicki Rebecca Sutphen Christian Sutter Anthony J Swerdlow Csilla I Szabo Lukasz Szafron Yen Y Tan Jack A Taylor Muy-Kheng Tea Manuel R Teixeira Soo-Hwang Teo Kathryn L Terry Pamela J Thompson Liv Cecilie Vestrheim Thomsen Darcy L Thull Laima Tihomirova Anna V Tinker Marc Tischkowitz Silvia Tognazzo Amanda Ewart Toland Alicia Tone Britton Trabert Ruth C Travis Antonia Trichopoulou Nadine Tung Shelley S Tworoger Anne M van Altena David Van Den Berg Annemarie H van der Hout Rob B van der Luijt Mattias Van Heetvelde Els Van Nieuwenhuysen Elizabeth J van Rensburg Adriaan Vanderstichele Raymonda Varon-Mateeva Ana Vega Digna Velez Edwards Ignace Vergote Robert A Vierkant Joseph Vijai Athanassios Vratimos Lisa Walker Christine Walsh Dorothea Wand Shan Wang-Gohrke Barbara Wappenschmidt Penelope M Webb Clarice R Weinberg Jeffrey N Weitzel Nicolas Wentzensen Alice S Whittemore Juul T Wijnen Lynne R Wilkens Alicja Wolk Michelle Woo Xifeng Wu Anna H Wu Hannah Yang Drakoulis Yannoukakos Argyrios Ziogas Kristin K Zorn Steven A Narod Douglas F Easton Christopher I Amos Joellen M Schildkraut Susan J Ramus Laura Ottini Marc T Goodman Sue K Park Linda E Kelemen Harvey A Risch Mads Thomassen Kenneth Offit Jacques Simard Rita Katharina Schmutzler Dennis Hazelett Alvaro N Monteiro Fergus J Couch Andrew Berchuck Georgia Chenevix-Trench Ellen L Goode Thomas A Sellers Simon A Gayther Antonis C Antoniou Paul D P Pharoah

Nat Genet 2017 May 27;49(5):680-691. Epub 2017 Mar 27.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.3826DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5612337PMC
May 2017

Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases.

Am J Med Genet A 2017 Mar 25;173(3):638-646. Epub 2016 Dec 25.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38054DOI Listing
March 2017

7p22.1 microduplication syndrome: Refinement of the critical region.

Eur J Med Genet 2017 Feb 16;60(2):114-117. Epub 2016 Nov 16.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212163015
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http://dx.doi.org/10.1016/j.ejmg.2016.11.005DOI Listing
February 2017

Intellectual Disability: When the Hypertrichosis Is a Clue.

J Pediatr Genet 2015 Sep 28;4(3):154-8. Epub 2015 Sep 28.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy; Unit of Dermatology, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1055/s-0035-1564442DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4918720PMC
September 2015

HOXA genes cluster: clinical implications of the smallest deletion.

Ital J Pediatr 2015 Apr 10;41:31. Epub 2015 Apr 10.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, Milan, 20122, Italy.

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http://dx.doi.org/10.1186/s13052-015-0137-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4395968PMC
April 2015

Potential impact of fetal genotype on maternal blood pressure during pregnancy: the example of EP300.

J Hypertens 2015 Mar;33(3):664-5

aPediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico bMedical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1097/HJH.0000000000000507DOI Listing
March 2015

Preliminary evaluation of cord blood platelet gel for the treatment of skin lesions in children with dystrophic epidermolysis bullosa.

Blood Transfus 2015 Jan 29;13(1):153-8. Epub 2014 Oct 29.

Paediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://www.bloodtransfusion.it/articolo.aspx?idart=002803&am
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http://dx.doi.org/10.2450/2014.0160-14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4317102PMC
January 2015

A multidisciplinary approach in neurofibromatosis 1.

Lancet Neurol 2015 Jan;14(1):29-30

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan 20122, Italy. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(14)70255-8DOI Listing
January 2015

Cord blood platelet gel treatment of dystrophic recessive epidermolysis bullosa.

BMJ Case Rep 2015 Jan 8;2015. Epub 2015 Jan 8.

Neonatal Intensive Care Unit, Department of Clinical Science and Community Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1136/bcr-2014-207364DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4289807PMC
January 2015

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.

Ital J Pediatr 2015 Jan 20;41. Epub 2015 Jan 20.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milano, Italy.

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http://dx.doi.org/10.1186/s13052-015-0110-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4308897PMC
January 2015

Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene.

Appl Clin Genet 2014 16;7:169-75. Epub 2014 Sep 16.

Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Italy ; Division of Pathology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.2147/TACG.S35474DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173641PMC
September 2014

Is it time to change the neurofibromatosis 1 diagnostic criteria?

Eur J Intern Med 2014 Jul 29;25(6):506-10. Epub 2014 Apr 29.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122 Milano, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejim.2014.04.004DOI Listing
July 2014

Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing.

J Dermatol Sci 2014 Jul 18;75(1):66-8. Epub 2014 Apr 18.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jdermsci.2014.04.004DOI Listing
July 2014

Syndromic obesity: clinical implications of a correct diagnosis.

Ital J Pediatr 2014 Apr 2;40(1):33. Epub 2014 Apr 2.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, Milano 20122, Italy.

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http://link.springer.com/content/pdf/10.1186%2F1824-7288-40-
Web Search
http://ijponline.biomedcentral.com/articles/10.1186/1824-728
Publisher Site
http://dx.doi.org/10.1186/1824-7288-40-33DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230022PMC
April 2014

Nevoid follicular mucinosis: a new type of hair follicle nevus.

J Cutan Pathol 2013 Sep 29;40(9):844-7. Epub 2013 Apr 29.

Section of Dermatology, Fondazione IRCCS Cà Granda-Ospedale Maggiore Policlinico di Milano, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1111/cup.12163DOI Listing
September 2013

X-linked reticulate pigmentary disorder with systemic manifestations: a new family and review of the literature.

Am J Med Genet A 2013 Jun 23;161A(6):1414-20. Epub 2013 Apr 23.

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35882DOI Listing
June 2013

Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type.

Am J Med Genet A 2013 May 26;161A(5):1143-7. Epub 2013 Mar 26.

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35825DOI Listing
May 2013