Search Results - "Said, Edith"

Molecular genetic diagnosis of autosomal dominant polycystic kidney disease – A systematic review.

Authors: Ciantar, Natalie Said, Edith

Source: Global Medical Genetics. Jun2026, Vol. 13 Issue 2, p1-7. 7p.

Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy.

Authors: De Maria, Beatrice Balestrini, Simona Mei, Davide et al.

Source: American Journal of Medical Genetics. Part A; Feb2022, Vol. 188 Issue 2, p522-533, 12p

DEFECT IN DORSO-VENTRAL PATTERNING, ASPLENIA, AND CONOTRUNCUS IN A SPONTANEOUSLY ABORTED FETUS.

Authors: Cuschieri, Alfred Said, Edith Calleja-Agius, Jean

Source: Fetal & Pediatric Pathology. Jul/Aug2004, Vol. 23 Issue 4, p265-274. 10p. 2 Color Photographs, 3 Black and White Photographs.

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

Authors: Said, Edith Chong, Jessica X. Hempel, Maja et al.

Source: American Journal of Medical Genetics. Part A; Nov2017, Vol. 173 Issue 11, p3098-3103, 6p

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

Authors: Said, Edith Soler, Doriette Sewry, Caroline

Source: American Journal of Medical Genetics. Part A; Feb2012, Vol. 158A Issue 2, p440-444, 5p

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

Authors: Said, Edith Cuschieri, Alfred Vermeesch, Joris et al.

Source: American Journal of Medical Genetics. Part A; Jun2011, Vol. 155A Issue 6, p1390-1392, 3p

A Case of True Hermaphroditism Presenting as a Testicular Tumour.

Authors: Ceci, Michelle Calleja, Edward Said, Edith et al.

Source: Case Reports in Urology. 2/3/2015, Vol. 2015, p1-3. 3p.

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.

Authors: Johari, Mridul Sarparanta, Jaakko Vihola, Anna et al.

Source: Acta Neuropathologica. Aug2021, Vol. 142 Issue 2, p375-393. 19p.

International consensus recommendations on the diagnostic work-up for malformations of cortical development.

Authors: Oegema, Renske Barakat, Tahsin Stefan Wilke, Martina et al.

Source: Nature Reviews Neurology. Nov2020, Vol. 16 Issue 11, p618-635. 18p.

Genotype-phenotype of autosomal dominant polycystic kidney disease in Malta.

Authors: Ciantar, Natalie Zahra, Graziella Delicata, Julian et al.

Source: European Journal of Medical Genetics. Jun2024, Vol. 69, pN.PAG-N.PAG. 1p.

Macular Dystrophy Associated With Hereditary Spastic Paraplegia Type 11 (Kjellin Syndrome): A Multidisciplinary Case Report.

Authors: Grech M Said E Sammut R et al.

Source: Cureus [Cureus] 2026 Apr 02; Vol. 18 (4), pp. e106325. Date of Electronic Publication: 2026 Apr 02 (Print Publication: 2026).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Cureus, Inc Country of Publication: United States NLM ID: 101596737 Publication Model: eCollection Cited Medium: Print ISSN: 2168-8184 (Print) Linking ISSN: 21688184 NLM ISO Abbreviation: Cureus Subsets: PubMed not MEDLINE

Persistent mild hypercalcaemia in an infant with pseudohypoaldosteronism and the diagnostic challenges faced.

Authors: Spiteri M Camilleri S Formosa N et al.

Source: Journal of nephrology [J Nephrol] 2024 Dec; Vol. 37 (9), pp. 2647-2650. Date of Electronic Publication: 2024 Sep 19.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: Italy NLM ID: 9012268 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1724-6059 (Electronic) Linking ISSN: 11218428 NLM ISO Abbreviation: J Nephrol Subsets: MEDLINE; In Process

Trophoblastic disease and choriocarcinoma.

Authors: Camilleri G Calleja-Aguis J Said E

Source: European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology [Eur J Surg Oncol] 2025 Apr; Vol. 51 (4), pp. 108727. Date of Electronic Publication: 2024 Oct 01.

Publication Type: Journal Article; Review

Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 8504356 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2157 (Electronic) Linking ISSN: 07487983 NLM ISO Abbreviation: Eur J Surg Oncol Subsets: MEDLINE

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

Authors: Byrne S Jansen L U-King-Im JM et al.

Source: Brain : a journal of neurology [Brain] 2016 Mar; Vol. 139 (Pt 3), pp. 765-81.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

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

Authors: Urreizti R Mayer K Evrony GD et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2020 Jan; Vol. 28 (1), pp. 138.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE; PubMed not MEDLINE

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

Authors: Urreizti R Mayer K Evrony GD et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2020 Jan; Vol. 28 (1), pp. 64-75. Date of Electronic Publication: 2019 Mar 15.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

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

Authors: Mayeur H Roche O Vêtu C et al.

Source: BMC medical genetics [BMC Med Genet] 2006 Apr 28; Vol. 7, pp. 41. Date of Electronic Publication: 2006 Apr 28.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE

Infantile Hypertrophic Pyloric Stenosis: An Epidemiological Review.

Authors: Galea R Said E

Source: Neonatal network : NN [Neonatal Netw] 2018 Jul; Vol. 37 (4), pp. 197-204. Date of Electronic Publication: 2018 Jul 01.

Publication Type: Comparative Study; Journal Article; Review

Journal Info: Publisher: Springer Publishing Company Country of Publication: United States NLM ID: 8503921 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1539-2880 (Electronic) Linking ISSN: 07300832 NLM ISO Abbreviation: Neonatal Netw