Results 51 to 60 of about 5,733 (168)

Oral–Facial–Digital Syndrome type VI with self mutilations

Egyptian Journal of Medical Human Genetics, 2014
We report the case of a 2.5 year old female, 2nd in order of birth of 1st cousin consanguineous marriage, with the typical features of Oral–Facial–Digital Syndrome type VI (OFDS VI) including midline pseudo cleft upper lip, sublingual nodule, molar tooth
Rabah M. Shawky, Heba Salah Abd-Elkhalek Elabd, Shaimaa Gad, Radwa Gamal, Shaimaa Abdelsattar Mohammad   +4 more
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Clinical and computed tomographic evaluation of portland cement pulpotomy in primary molar: A case report

Bangabandhu Sheikh Mujib Medical University Journal, 2016
The present case describes the clinical & radiographic outcome of a Portland Cement pulpotomy. The 5 years old girl presenting extensive carious exposure in her mandibular left 2nd deciduous molar and was suffering pain in her left lower jaw only on ...
Kamrun Nahar, A. K. M. Bashar, Mozammal Hossain, Ali Asgor Moral   +3 more
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Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: Report of a rare case

Annals of Indian Academy of Neurology, 2013
Varadi Papp syndrome or oral-facial-digital syndrome type VI (OFDS VI) is a rare autosomal-recessive disorder distinguished from other OFDSs by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities.
Soumya Patra, Radheshyam Purkait, Tryambak Samanta, Ramchandra Bhadra   +3 more
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CLINICAL AND RADIOGRAPHIC COMPARATIVE PULPOTOMY BY SULFATE FERRIC WITH TRICRESOFORMALIN IN PRIMARY MOLAR TEETH

Journal of Research in Medical Sciences, 2000
<font><font color="#555555"><span style="font-size: 10pt; font-family: Tahoma">Introduction. Among different technics of decidous tooth pulpotomy the best method would be more suitable which has high grade of successful in long term and
E JABBARIFAR
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Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report

BMC Medical Genetics, 2020
Background Joubert syndrome (JBTS) is a genetically heterogeneous group of neurodevelopmental syndromes caused by primary cilia dysfunction. Usually the neurological presentation starts with abnormal neonatal breathing followed by muscular hypotonia ...
Dulika Sumathipala, Petter Strømme, Christian Gilissen, Ingunn Holm Einarsen, Hilde J. Bjørndalen, Andrés Server, Jordi Corominas, Bjørnar Hassel, Madeleine Fannemel, Doriana Misceo, Eirik Frengen   +10 more
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Evaluating the presence of IAN injury in patients with juxta-apical radiolucency after third molar surgery: a retrospective cohort study

BMC Oral Health, 2021
Background Juxta-apical radiolucency (JAR) has been presented as a radiographic sign, suggestive of the IAN injury through third molar surgery. This study aimed to evaluate the relation of JAR with IAN injury in cone-beam computed tomography (CBCT ...
Mahvash Hasani, Nasim Razavi, Abdolaziz Haghnegahdar, Motahhareh Zarifi   +3 more
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The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1

Frontiers in Physiology, 2019
Joubert syndrome (JS) is a congenital autosomal-recessive or—in rare cases–X-linked inherited disease. The diagnostic hallmark of the so-called molar tooth sign describes the morphological manifestation of the mid- and hind-brain in axial brain scans ...
Tim Ott, Lilian Kaufmann, Martin Granzow, Katrin Hinderhofer, Claus R. Bartram, Susanne Theiß, Angelika Seitz, Nagarajan Paramasivam, Nagarajan Paramasivam, Angela Schulz, Ute Moog, Martin Blum, Christina M. Evers   +12 more
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Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850)

Stem Cell Research, 2018
Joubert Syndrome (JS) is a rare autosomal recessive or X-linked condition characterized by a peculiar cerebellar malformation, known as the molar tooth sign (MTS), associated with other neurological phenotypes and multiorgan involvement.
Jessica Rosati, Filomena Altieri, Silvia Tardivo, Elisa Maria Turco, Marina Goldoni, Iolanda Spasari, Daniela Ferrari, Laura Bernardini, Giuseppe Lamorte, Enza Maria Valente, Angelo Luigi Vescovi   +10 more
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Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report

BMC Medical Genetics, 2020
Background Joubert syndrome is a genetically heterogeneous autosomal recessive ciliopathy characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar peduncles and a deep interpeduncular ...
Thi Phuong Hoa Bui, Ngoc Tu Nguyen, Van Doan Ngo, Hoai-Nghia Nguyen, Thi Thanh Ha Ly, Huy Duong Do, Minh-Tuan Huynh   +6 more
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Sleep, Respiration and Nocturnal Paroxysmal Events in Joubert Syndrome: A Case Report

Nature and Science of Sleep, 2022
Rosa Peraita-Adrados Sleep and Epilepsy Unit- Clinical Neurophysiology Service, University General Hospital and Research Institute Gregorio Marañón, University Complutense of Madrid (UCM), Madrid, SpainCorrespondence: Rosa Peraita-Adrados, Email rosa ...
Peraita-Adrados R
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