Results 71 to 80 of about 6,417 (245)

Restorative treatment in a case of amelogenesis imperfecta and 9-year follow-up: a case report

Head & Face Medicine, 2020
Background Amelogenesis imperfecta is a hereditary malformation showing various manifestations regarding enamel dysplasia. This case report shows a 9-year follow-up after restorative treatment of a 16-year old female patient affected by a hypoplastic ...
Martin M. I. Sabandal, Till Dammaschke, Edgar Schäfer   +2 more
doaj   +1 more source

Transcript Long‐Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter‐Tönz Syndrome

Clinical Genetics, Volume 107, Issue 6, Page 705-707, June 2025.
We characterized a novel ROGDI variant (NM_024589.3:c.646‐2A>G) identified in a family case of Kohlschütter‐Tönz Syndrome. This variant disrupts a canonical acceptor splice site, in intron 8. By combining RT‐PCR and targeted long‐read cDNA sequencing.
Miriam Essid, Sana Karoui, Mouna Zribi, Thouraya Ben Younes, Louis Januel, Estelle Lafont, Audrey Labalme, Meriem Ben Hafsa, Go Hun Seo, Safa Khatrouch, Hela Boudabous, Amel Ben Chehida, Damien Sanlaville, Houweyda Jilani, Lamia Benjemaa, Ichraf Kraoua, Gaetan Lesca, Nicolas Chatron   +17 more
wiley   +1 more source

Association of amelogenesis imperfecta and Bartter's syndrome

Indian Journal of Nephrology, 2017
Bartter's syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemia with normal blood pressure. Bartter's syndrome is associated with hypercalciuria and nephrocalcinosis. Amelogenesis imperfecta (AI) is a group of hereditary disorders that affect dental enamel.
Rapur Ram, K Alekya, Anil Kumar, M. Aruna, V Alekya, V. Kumar, M S V V Krishna, M.H.K. Reddy, B Sangeetha   +8 more
openaire   +3 more sources

DIRECT RECONSTRUCTION OF PERMANENT DENTITION OF A PATIENT WITH AMELOGENESIS IMPERFECTA

Česká Stomatologie a Praktické Zubní Lékařství, 2020
Introduction and aim: Amelogenesis imperfecta associates a clinically and genetically heterogeneous group of developmental defects affecting the appearance and structure of enamel, which more or less severely affect all dental functions.
T Kovalský, B Vágnerová, I Voborná, R Mounajjed   +3 more
doaj   +1 more source

Effect of autoclave sterilization on nickel ion release from stainless steel crowns and space maintainer bands

European Journal of Oral Sciences, Volume 133, Issue 3, June 2025.
Abstract This study aimed to investigate the effect of autoclave sterilization on the leaching of nickel ions from stainless steel crowns and space maintainer bands used in pediatric dentistry. Sixty space maintainer bands and 60 stainless steel crowns were divided into sterilized (Amsco Century V‐120 Prevac steam sterilizer) and non‐sterilized groups.
Noura Alessa, Habah Alhamdan, Shahad Alrobaish, Nisrin AlQahtani, Norah Alarifi, Manal Almutairi, Latifa Alhowaish, Majedah Al‐Homaidhi, Reuof Alessa   +8 more
wiley   +1 more source

Amelogenesis imperfecta: Four case reports

Journal of Natural Science, Biology and Medicine, 2013
Amelogenesis Imperfecta (AI) represents a group of developmental conditions, genomic in origin, which affect the structure and clinical appearance of enamel of all or nearly all the teeth in a more or less equal manner. AI is a serious problem that reduces oral health-related quality of life and causes some physiological problems.
Jigna S Shah, Dhaval N Mehta, Bhavik Thakkar   +2 more
openaire   +3 more sources

Auto-percepção dos portadores de Amelogênese Imperfeita e Displasia [PDF]

, 2012
TCC (graduação) - Universidade Federal de Santa Catarina. Centro de Ciências da Saúde. Odontologia.A Amelogênese Imperfeita é um distúrbio hereditário caracterizado pela formação anormal de esmalte, o que gera dentes com alteração de cor, sensibilidade e
Klita, Ana Paula Haisi
core  

Oral health care pathways for patients with epidermolysis bullosa: A position statement from the European reference network for rare skin diseases

Journal of the European Academy of Dermatology and Venereology, Volume 39, Issue 6, Page 1080-1090, June 2025.
The European Reference Network for Rare Skin Diseases has developed consensus‐based oral health care pathways for dental referral, treatment and follow‐up for patients with EB according to their risk for oral and dental manifestations and complications. Referral for early preventive strategies is key to reducing the burden of disease.
S. Krämer, A. L. Hillebrecht, K. Bekes, K. Bücher, V. Clark, H. Haririan, J. Jakowski, C. Joseph, N. Meißner, J. Monteiro, S. Porter, R. Schilke, S. Veliz, V. Verhaeghe, A. Vinereanu, M. C. Bolling, A. Diem, J. E. Mellerio, C. Bodemer, C. Has   +19 more
wiley   +1 more source

FAM20C Functions Intracellularly Within Both Ameloblasts and Odontoblasts In Vivo [PDF]

, 2013
FAM20C, also known as Golgi casein kinase (G‐CK), is proposed to be the archetype for a family of secreted kinases that phosphorylate target proteins in the Golgi and in extracellular matrices, but FAM20C serving an extracellular function is ...
Al-Hashimi, Brunati, Chan, Delgado, Duncan, Feng, Fincham, Ishikawa, Kawasaki, Nadanaka, Nalbant, O'Sullivan, Ryu, Simmer, Simpson, Tagliabracci, Tagliabracci, Wang, Wang, Yamakoshi   +19 more
core   +1 more source

Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta

American Journal of Medical Genetics Part A, Volume 197, Issue 3, March 2025.
ABSTRACT Osteogenesis Imperfecta (OI) is a heterogeneous skeletal dysplasia characterized by bone fragility, skeletal deformities, and short stature. Most commonly, it is caused by autosomal dominant variants in the type I collagen genes, COL1A1 or COL1A2.
Dominyka Batkovskyte, Diana Swolin‐Eide, Anna Hammarsjö, Kristine Bilgrav Sæther, Sofia Thunström, Johanna Lundin, Jesper Eisfeldt, Anna Lindstrand, Ann Nordgren, Eva Åström, Giedre Grigelioniene   +10 more
wiley   +1 more source