Publications by authors named "Edith Said"

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Trophoblastic disease and choriocarcinoma.
Graziella Camilleri, Jean Calleja-Aguis, Edith Said

Eur J Surg Oncol· April 2025

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Persistent mild hypercalcaemia in an infant with pseudohypoaldosteronism and the diagnostic challenges faced.
Martha Spiteri, Sarah Camilleri, Nancy Formosa, Daniela Grima, Edith Said, Valerie Said Conti

J Nephrol· December 2024

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Genotype-phenotype of autosomal dominant polycystic kidney disease in Malta.
Natalie Ciantar, Graziella Zahra, Julian Delicata, Fiona Sammut, Jean Calleja-Agius, Edith Said

Eur J Med Genet· June 2024

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Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.
Beatrice De Maria, Simona Balestrini, Davide Mei, Federico Melani, Simona Pellacani, Edith Said

Am J Med Genet A· February 2022

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Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.
Mridul Johari, Jaakko Sarparanta, Anna Vihola, Per Harald Jonson, Marco Savarese, Edith Said

Acta Neuropathol· August 2021

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Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
Carolina Courage, Karen L Oliver, Eon Joo Park, Jillian M Cameron, Kariona A Grabińska, Edith Said

Am J Hum Genet· April 2021

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International consensus recommendations on the diagnostic work-up for malformations of cortical development.
Renske Oegema, Tahsin Stefan Barakat, Martina Wilke, Katrien Stouffs, Dina Amrom, Edith Said

Nat Rev Neurol· November 2020

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DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.
Roser Urreizti, Klaus Mayer, Gilad D Evrony, Edith Said, Laura Castilla-Vallmanya

Eur J Hum Genet· January 2020

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Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.
Roser Urreizti, Klaus Mayer, Gilad D Evrony, Edith Said, Laura Castilla-Vallmanya

Eur J Hum Genet· January 2020

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Infantile Hypertrophic Pyloric Stenosis: An Epidemiological Review.
Roberto Galea, Edith Said

Neonatal Netw· July 2018

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Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.
Edith Said, Jessica X Chong, Maja Hempel, Jonas Denecke, Paul Soler

Am J Med Genet A· November 2017

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Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Emma L Wakeling, Frédéric Brioude, Oluwakemi Lokulo-Sodipe, Susan M O'Connell, Jennifer Salem, Edith Said

Nat Rev Endocrinol· February 2017

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EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Susan Byrne, Lara Jansen, Jean-Marie U-King-Im, Ata Siddiqui, Hart G W Lidov, Edith Said

Brain· March 2016

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A case of true hermaphroditism presenting as a testicular tumour.
Michelle Ceci, Edward Calleja, Edith Said, Noel Gatt

Case Rep Urol· March 2015

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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Mikko Muona, Samuel F Berkovic, Leanne M Dibbens, Karen L Oliver, Snezana Maljevic, Edith Said

Nat Genet· January 2015

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Vici syndrome--a rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy.
Edith Said, Doriette Soler, Caroline Sewry

Am J Med Genet A· February 2012

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Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH.
Edith Said, Alfred Cuschieri, Joris Vermeesch, Jean Pierre Fryns

Am J Med Genet A· June 2011

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Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
Paola S Denora, David Schlesinger, Carlo Casali, Fernando Kok, Alessandra Tessa, Edith Said

Hum Mutat· March 2009

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Eight previously unidentified mutations found in the OA1 ocular albinism gene.
Hélène Mayeur, Olivier Roche, Christelle Vêtu, Carolina Jaliffa, Dominique Marchant, Edith Said

BMC Med Genet· April 2006

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Defect in dorso-ventral patterning, asplenia, and conotruncus in a spontaneously aborted fetus.
Alfred Cuschieri, Edith Said, Jean Calleja-Agius

Fetal Pediatr Pathol· September 2005

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