Výsledky vyhledávání - "Hamamy Syndrome"

Hamamy Sendromlu Bir Hastanın Endodontik Yeniden Tedavisi: Bir Olgu Sunumu

Publikováno v: Volume: 8, Issue: 2 185-191
Aydın Dental Journal

Aim: Creating apical plug formation with mineral trioxide aggregate (MTA) is beneficial for teeth that have lost their apical barrier due to infection. This case report aims to present the retreatment of a left mandibular first premolar tooth with ex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=tubitakulakb::eadb530bc9991e4d9a6cd78aae06de42
https://dergipark.org.tr/tr/pub/adj/issue/73180/1176120

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Sphenoid sinus agenesis and sella turcica hypoplasia: very rare cases of two brothers with Hamamy syndrome

Autor: Büşra Arikan, Numan Dedeoğlu, Oğuzhan Altun, Suayip Burak Duman

Publikováno v: Surgical and Radiologic Anatomy. 42:1377-1380

Hamamy syndrome (HS) is an autosomal recessive syndrome with a genetic origin that is very rarely observed. The syndrome with craniofacial dysmorphisms, including midface prominence, severe telecanthus, sparse lateral eyebrows, protruding ears, front

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ca16f6450db31d5a85d5144bf194a9c
https://doi.org/10.1007/s00276-020-02558-9

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Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome

Autor: Christel Dagher, Audrey Criqui, Nathalie Roeckel-Trevisiol, Christel Castro, Daniel Mahfoud, Hala Mégarbané, Sylvain Baulande, André Mégarbané, Sayeeda Hana, Stephany El-Hayek, Mahmoud Taleb Al-Ali, Jean-Pierre Desvignes, Valérie Delague

Publikováno v: Molecular Syndromology
Molecular Syndromology, 2021, 12 (6), pp.342-350. ⟨10.1159/000517253⟩
Mol Syndromol
Molecular Syndromology, Karger, 2021, 12 (6), pp.342-350. ⟨10.1159/000517253⟩

We report on 2 cousins, a girl and a boy, born to first-cousin Lebanese parents with Hamamy syndrome, exhibiting developmental delay, intellectual disability, severe telecanthus, abnormal ears, dentinogenesis imperfecta, and bone fragility. Whole-exo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fd26fd4373b9c4259fcbc827655ef5b
https://hal-amu.archives-ouvertes.fr/hal-03662760

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A Preliminary in Silico Study on Experimental Animal Model for Hamamy Syndrome: A Rare Human Genetic Disorder

Autor: Samson Hambir, Nebyu Daniel, Niyat Habte, N Saleem Basha

Publikováno v: Biomedical Journal of Scientific & Technical Research. 31

A rare disease, also referred to as an Orphan Disease (OD), is any disease that affects a small percentage of the population...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::007a98720e3144362c7ae23268635519
https://doi.org/10.26717/bjstr.2020.31.005133

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Human model of IRX5 mutations reveals key role for this transcription factor in ventricular conduction

Publikováno v: Cardiovascular Research
Cardiovascular Research, Oxford University Press (OUP), 2020, pp.cvaa259. ⟨10.1093/cvr/cvaa259⟩
Cardiovascular Research, Oxford University Press (OUP), 2021, 117 (9), pp.2092-2107. ⟨10.1093/cvr/cvaa259⟩
Cardiovascular research, 117(9), 2092-2107. Oxford University Press
Cardiovascular Research, 2021, 117 (9), pp.2092-2107. ⟨10.1093/cvr/cvaa259⟩

Aims: several inherited arrhythmic diseases have been linked to single gene mutations in cardiac ion channels and interacting proteins. However, the mechanisms underlying most arrhythmias, are thought to involve altered regulation of the expression o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af5b851a531ee9f55381a590e7821912
http://cdm21054.contentdm.oclc.org/cdm/ref/collection/IR/id/9553

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