Results 111 to 120 of about 6,152 (269)

A Japanese Case of Lenz‐Majewski Syndrome With a Novel PTDSS1 Variant

Molecular Genetics &Genomic Medicine, Volume 13, Issue 6, June 2025.
A Japanese girl with a de novo PTDSS1 R95Q variant showed mild sclerosing bone dysplasia. Functional and structural analyses revealed intermediate PS synthesis activity compared to previously reported variants, suggesting a broader phenotypic spectrum of LMS.
Yasuko Kobari, Non Miyata, Jun Takayama, Naoya Saijo, Tomohisa Suzuki, Shigeo Kure, Atsuo Kikuchi, Gen Tamiya, Takumi Takizawa   +8 more
wiley   +1 more source

Cephalometric Measurements Of Non-Syndromic Oligodontia In Early Dental Age In A Japanese Population

Clinical, Cosmetic and Investigational Dentistry, 2019
Hisayo Mayama,1 Yukinori Kuwajima,2 John D Da Silva,3 Shahrzad Khorashadi,2 R Frederick Lambert,2,4 Yoshiki Ishida,2 Shigemi Ishikawa-Nagai,2 Hiroyuki Miura,5 Kazuro Satoh1 1Division of Orthodontics, Department of Developmental Oral Health Science ...
Mayama H, Kuwajima Y, Da Silva JD, Khorashadi S, Lambert RF, Ishida Y, Ishikawa-Nagai S, Miura H, Satoh K   +8 more
doaj  

Tooth agenesis review

Česká Stomatologie a Praktické Zubní Lékařství, 2012
Background: Tooth agenesis means absence or incomplete development of tooth. It is a common human anomaly, which according to Online Mendelian Inheritance in Man database affects approximately 20% of the population.
L. Gábrlíková
doaj   +1 more source

Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta

Orphanet Journal of Rare Diseases, 2020
Background Osteogenesis imperfecta (OI) is a heterogeneous connective tissue disorder characterized by an increased tendency for fractures throughout life. Autosomal dominant (AD) mutations in COL1A1 and COL1A2 are causative in approximately 85% of cases.
Kristofer Andersson, Barbro Malmgren, Eva Åström, Ann Nordgren, Fulya Taylan, Göran Dahllöf   +5 more
doaj   +1 more source

Oligodontia with taurodontism in monozygous twins

North American Journal of Medical Sciences, 2012
Dear Editor, A wide spectrum of developmental pathologies affects the teeth, which includes variation in shape, size, eruption pattern, and number. Tooth agenesis is one such condition that leads to hypodontia and oligodontia. Prevalence of hypodontia was found to be 1.6% to 9.6% in the permanent dentition.
Kandagal, V Suresh, Bilahari, N, Shenai, Prashanth, Chatra, Laxmikanth, Pramod, R C, Ashir, K R   +5 more
openaire   +3 more sources

Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz‐Isidor Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 4, April 2025.
ABSTRACT Alteration in the ubiquitin‐proteasome system results in human disorders with neurological and/or autoinflammatory presentation. Haploinsufficiency of PSMD12, which encodes a subunit of the core component of the proteasome, causes Stankiewicz‐Isidor syndrome (STISS), characterized by intellectual disability, autism spectrum disorder ...
Agnese Feresin, Beatrice Spedicati, Stefania Zampieri, Anna Morgan, Andrea Magnolato, Alessandra Tesser, Alberto Tommasini, Maria Teresa Bonati, Giorgia Girotto, Flavio Faletra   +9 more
wiley   +1 more source

Agenesias dentarias: en busca de las alteraciones genéticas responsables de la falta de desarrollo [PDF]

, 2004
En conjunto, las agenesias dentarias son la malformación cráneofacial más frecuente. Su prevalencia alcanza el 20% en la dentición permanente, y su expresión puede variar desde la ausencia de una sola pieza, generalmente un tercer molar, hasta la de toda
Kolenc Fusé, Francisco Javier
core  

Reimplantation: clinical Implications and outcome of dry storage of avulsed teeth [PDF]

, 2010
Reimplantation refers to the insertion and temporary fixation of completely or partially avulsed teeth that have resulted from traumatic injury. Reimplantation of an avulsed tooth depends on certain clinical conditions like phy- siological status of ...
Dhindsa, Abhishek, Garg, Shalini, Jindal, Sanjeev Kumar, Singla, Anshu   +3 more
core   +1 more source

Dental Implant Rehabilitation in Patients Carrying WNT10A Mutations With Different Molecular Statuses and Phenotypes: A Retrospective Cohort Study

Clinical Oral Implants Research, Volume 36, Issue 4, Page 505-517, April 2025.
ABSTRACT Objectives WNT10A mutations are associated with tooth agenesis. This study aimed to assess the clinical outcomes of dental implants in patients carrying WNT10A mutations with different molecular statuses and phenotypes over a long‐term follow‐up period. Materials and Methods Patients with tooth agenesis were screened by whole‐exome sequencing (
Jiaqi Dou, Qinggang Dai, Xinbo Yu, Yining He, Yuwei Dai, Feng Wang, Yiqun Wu   +6 more
wiley   +1 more source

Diagnostic Odyssey and Full Mouth Rehabilitation of a Juvenile Patient With IFIH1‐Related Disorder: A Case of Aicardi‐Goutières and Singleton Merten Syndromes Overlap

Special Care in Dentistry, Volume 45, Issue 2, March/April 2025.
ABSTRACT Objective This case report describes the prosthetic rehabilitation of a 15‐year‐old female patient with a rare IFIH1‐related interferonopathy, presenting features from both Aicardi‐Goutières Syndrome (AGS) and Singleton‐Merten Syndrome (SMS).
Clive Friedman, Timucin Ari, Gürkan Ünsal, Tugce Balci, Matthew Morrison, Nilgun Ari   +5 more
wiley   +1 more source