Edith Said

Edith Said

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Edith Said

Edith Said

Publications by authors named "Edith Said"

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DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.

Authors:
Roser Urreizti Klaus Mayer Gilad D Evrony Edith Said Laura Castilla-Vallmanya Neal A L Cody Guillem Plasencia Bruce D Gelb Daniel Grinberg Ulrich Brinkmann Bryn D Webb Susanna Balcells

Eur J Hum Genet 2020 Jan 15;28(1):64-75. Epub 2019 Mar 15.

Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain.

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http://dx.doi.org/10.1038/s41431-019-0374-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6906407PMC
January 2020

Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.

Authors:
Roser Urreizti Klaus Mayer Gilad D Evrony Edith Said Laura Castilla-Vallmanya Neal A L Cody Guillem Plasencia Bruce D Gelb Daniel Grinberg Ulrich Brinkmann Bryn D Webb Susanna Balcells

Eur J Hum Genet 2020 Jan;28(1):138

Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain.

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http://dx.doi.org/10.1038/s41431-019-0394-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6906502PMC
January 2020

Infantile Hypertrophic Pyloric Stenosis: An Epidemiological Review.

Authors:
Roberto Galea Edith Said

Neonatal Netw 2018 Jul 1;37(4):197-204. Epub 2018 Jul 1.

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http://dx.doi.org/10.1891/0730-0832.37.4.197DOI Listing
July 2018

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

Authors:
Edith Said Jessica X Chong Maja Hempel Jonas Denecke Paul Soler Tim Strom Deborah A Nickerson Christian Kubisch Michael J Bamshad Davor Lessel

Am J Med Genet A 2017 Nov 8;173(11):3098-3103. Epub 2017 Sep 8.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5659324PMC
November 2017

Diagnosis and management of Silver-Russell syndrome: first international consensus statement.

Authors:
Emma L Wakeling Frédéric Brioude Oluwakemi Lokulo-Sodipe Susan M O'Connell Jennifer Salem Jet Bliek Ana P M Canton Krystyna H Chrzanowska Justin H Davies Renuka P Dias Béatrice Dubern Miriam Elbracht Eloise Giabicani Adda Grimberg Karen Grønskov Anita C S Hokken-Koelega Alexander A Jorge Masayo Kagami Agnes Linglart Mohamad Maghnie Klaus Mohnike David Monk Gudrun E Moore Philip G Murray Tsutomu Ogata Isabelle Oliver Petit Silvia Russo Edith Said Meropi Toumba Zeynep Tümer Gerhard Binder Thomas Eggermann Madeleine D Harbison I Karen Temple Deborah J G Mackay Irène Netchine

Nat Rev Endocrinol 2017 02 2;13(2):105-124. Epub 2016 Sep 2.

AP-HP, Hôpitaux Universitaires Paris Est (AP-HP) Hôpital des Enfants Armand Trousseau, Service d'Explorations Fonctionnelles Endocriniennes, 26 avenue du Dr Arnold Netter, 75012 Paris, France.

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http://dx.doi.org/10.1038/nrendo.2016.138DOI Listing
February 2017

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

Authors:
Susan Byrne Lara Jansen Jean-Marie U-King-Im Ata Siddiqui Hart G W Lidov Istvan Bodi Luke Smith Rachael Mein Thomas Cullup Carlo Dionisi-Vici Lihadh Al-Gazali Mohammed Al-Owain Zandre Bruwer Khalid Al Thihli Rana El-Garhy Kevin M Flanigan Kandamurugu Manickam Erik Zmuda Wesley Banks Ruth Gershoni-Baruch Hanna Mandel Efrat Dagan Annick Raas-Rothschild Hila Barash Francis Filloux Donnell Creel Michael Harris Ada Hamosh Stefan Kölker Darius Ebrahimi-Fakhari Georg F Hoffmann David Manchester Philip J Boyer Adnan Y Manzur Charles Marques Lourenco Daniela T Pilz Arveen Kamath Prab Prabhakar Vamshi K Rao R Curtis Rogers Monique M Ryan Natasha J Brown Catriona A McLean Edith Said Ulrike Schara Anja Stein Caroline Sewry Laura Travan Frits A Wijburg Martin Zenker Shehla Mohammed Manolis Fanto Mathias Gautel Heinz Jungbluth

Brain 2016 Mar;139(Pt 3):765-81

1 Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's and St. Thomas' Hospital NHS Foundation Trust, London, UK 6 Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section, King's College, London, UK 48 Department of Basic and Clinical Neuroscience, IoPPN, King's College London, London, UK

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http://dx.doi.org/10.1093/brain/awv393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4766378PMC
March 2016

A case of true hermaphroditism presenting as a testicular tumour.

Authors:
Michelle Ceci Edward Calleja Edith Said Noel Gatt

Case Rep Urol 2015 3;2015:598138. Epub 2015 Feb 3.

Department of Pathology, Mater Dei Hospital, Tal-Qroqq MSD 2090, Malta.

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http://www.hindawi.com/journals/criu/2015/598138/
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http://dx.doi.org/10.1155/2015/598138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4333191PMC
March 2015

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

Authors:
Mikko Muona Samuel F Berkovic Leanne M Dibbens Karen L Oliver Snezana Maljevic Marta A Bayly Tarja Joensuu Laura Canafoglia Silvana Franceschetti Roberto Michelucci Salla Markkinen Sarah E Heron Michael S Hildebrand Eva Andermann Frederick Andermann Antonio Gambardella Paolo Tinuper Laura Licchetta Ingrid E Scheffer Chiara Criscuolo Alessandro Filla Edoardo Ferlazzo Jamil Ahmad Adeel Ahmad Betul Baykan Edith Said Meral Topcu Patrizia Riguzzi Mary D King Cigdem Ozkara Danielle M Andrade Bernt A Engelsen Arielle Crespel Matthias Lindenau Ebba Lohmann Veronica Saletti João Massano Michael Privitera Alberto J Espay Birgit Kauffmann Michael Duchowny Rikke S Møller Rachel Straussberg Zaid Afawi Bruria Ben-Zeev Kaitlin E Samocha Mark J Daly Steven Petrou Holger Lerche Aarno Palotie Anna-Elina Lehesjoki

Nat Genet 2015 Jan 17;47(1):39-46. Epub 2014 Nov 17.

1] Folkhälsan Institute of Genetics, Helsinki, Finland. [2] Neuroscience Center, University of Helsinki, Helsinki, Finland. [3] Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/ng.3144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281260PMC
January 2015

Vici syndrome--a rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy.

Authors:
Edith Said Doriette Soler Caroline Sewry

Am J Med Genet A 2012 Feb 30;158A(2):440-4. Epub 2011 Sep 30.

Department of Anatomy & Cell Biology, University of Malta, Msida, Malta.

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http://doi.wiley.com/10.1002/ajmg.a.34273
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.34273DOI Listing
February 2012

Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH.

Authors:
Edith Said Alfred Cuschieri Joris Vermeesch Jean Pierre Fryns

Am J Med Genet A 2011 Jun 12;155A(6):1390-2. Epub 2011 May 12.

Department of Anatomy and Cell Biology, University of Malta, Msida, Malta.

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http://dx.doi.org/10.1002/ajmg.a.33961DOI Listing
June 2011

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.

Authors:
Paola S Denora David Schlesinger Carlo Casali Fernando Kok Alessandra Tessa Amir Boukhris Hamid Azzedine Maria Teresa Dotti Claudio Bruno Jeremy Truchetto Roberta Biancheri Estelle Fedirko Maja Di Rocco Clarissa Bueno Alessandro Malandrini Roberta Battini Elisabeth Sickl Maria Fulvia de Leva Odile Boespflug-Tanguy Gabriella Silvestri Alessandro Simonati Edith Said Andreas Ferbert Chiara Criscuolo Karl Heinimann Anna Modoni Peter Weber Silvia Palmeri Martina Plasilova Flavia Pauri Denise Cassandrini Carla Battisti Antonella Pini Michela Tosetti Erwin Hauser Marcella Masciullo Roberto Di Fabio Francesca Piccolo Elodie Denis Giovanni Cioni Roberto Massa Elvio Della Giustina Olga Calabrese Marina A B Melone Giuseppe De Michele Antonio Federico Enrico Bertini Alexandra Durr Knut Brockmann Marjo S van der Knaap Mayana Zatz Alessandro Filla Alexis Brice Giovanni Stevanin Filippo M Santorelli

Hum Mutat 2009 Mar;30(3):E500-19

INSERM, UMR_S679, Paris, France .

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http://dx.doi.org/10.1002/humu.20945DOI Listing
March 2009

Eight previously unidentified mutations found in the OA1 ocular albinism gene.

Authors:
Hélène Mayeur Olivier Roche Christelle Vêtu Carolina Jaliffa Dominique Marchant Hélène Dollfus Dominique Bonneau Francis L Munier Daniel F Schorderet Alex V Levin Elise Héon Joanne Sutherland Didier Lacombe Edith Said Eedy Mezer Josseline Kaplan Jean-Louis Dufier Cécile Marsac Maurice Menasche Marc Abitbol

BMC Med Genet 2006 Apr 28;7:41. Epub 2006 Apr 28.

EA no 2502 du ministère de la Recherche, de l'Enseignement Supérieur et la Technologie, CEntre de Recherches Thérapeutiques en Ophtalmologie, Université René Descartes-Paris V, Faculté de Médecine René Descartes-Site Necker, Paris, France.

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http://dx.doi.org/10.1186/1471-2350-7-41DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1468396PMC
April 2006

Defect in dorso-ventral patterning, asplenia, and conotruncus in a spontaneously aborted fetus.

Authors:
Alfred Cuschieri Edith Said Jean Calleja-Agius

Fetal Pediatr Pathol 2004 Jul-Aug;23(4):265-74

Department of Anatomy, University of Malta, Msida MSD06, Malta.

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http://dx.doi.org/10.1080/15227950490923697DOI Listing
September 2005