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108 results

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Quoted phrase not found in phrase index: "Brachyolmia-amelogenesis imperfecta syndrome"
Page 1
Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.
Van Dijk FS, Sillence DO. Van Dijk FS, et al. Am J Med Genet A. 2014 Jun;164A(6):1470-81. doi: 10.1002/ajmg.a.36545. Epub 2014 Apr 8. Am J Med Genet A. 2014. PMID: 24715559 Free PMC article. Review.
Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by Sillence et al., has been confirmed with molecular genetic studies. ...This will provide patients and their families with insight into the probable course of the disorder and it …
Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by Sillence et al., has been confirmed with mol …
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. Zhang J, et al. Nat Med. 2019 Mar;25(3):439-447. doi: 10.1038/s41591-018-0334-x. Epub 2019 Jan 28. Nat Med. 2019. PMID: 30692697
Epileptic encephalopathy and amelogenesis imperfecta: Kohlschutter-Tonz syndrome.
Schossig A, Wolf NI, Kapferer I, Kohlschütter A, Zschocke J. Schossig A, et al. Eur J Med Genet. 2012 May;55(5):319-22. doi: 10.1016/j.ejmg.2012.02.008. Epub 2012 Mar 28. Eur J Med Genet. 2012. PMID: 22522085 Review.
Kohlschutter-Tonz syndrome is a rare genetic disorder with epilepsy, psychomotor regression, and a severe enamel defect with yellow or brownish discoloration of the teeth. ...All affected individuals show a psychomotor regression after onset of epilepsy or a developmental …
Kohlschutter-Tonz syndrome is a rare genetic disorder with epilepsy, psychomotor regression, and a severe enamel defect with yellow o …
Advances in osteogenesis imperfecta.
Cole WG. Cole WG. Clin Orthop Relat Res. 2002 Aug;(401):6-16. doi: 10.1097/00003086-200208000-00003. Clin Orthop Relat Res. 2002. PMID: 12151877 Review.
Considerable progress has been made in many aspects of osteogenesis imperfecta. The international Sillence classification of osteogenesis imperfecta is being expanded to include a greater range of subgroups of patients. Attempts are being made to identify the genes …
Considerable progress has been made in many aspects of osteogenesis imperfecta. The international Sillence classification of osteogen …
Bruck Syndrome: Beyond the Obvious.
Tran CT, Smet ME, Forsey J, Zankl A, Nayyar R. Tran CT, et al. Fetal Diagn Ther. 2022;49(11-12):479-485. doi: 10.1159/000527594. Epub 2022 Dec 7. Fetal Diagn Ther. 2022. PMID: 36476632
INTRODUCTION: Bruck syndrome is a rare autosomal recessive disease characterized by multiple joint contractures, bone fragility, and fractures. Two genes have been associated with Bruck syndrome, FKBP10 and PLOD2, though they are phenotypically indistinguishable. .. …
INTRODUCTION: Bruck syndrome is a rare autosomal recessive disease characterized by multiple joint contractures, bone fragility, and …
Clinical implications of a diagnosis of taurodontism: A literature review.
Pach J, Regulski PA, Tomczyk J, Strużycka I. Pach J, et al. Adv Clin Exp Med. 2022 Dec;31(12):1385-1389. doi: 10.17219/acem/152120. Adv Clin Exp Med. 2022. PMID: 36000881 Free article. Review.
The extraction of taurodont teeth can be complicated due to an apical shift of the root furcation. In periodontology, taurodont teeth can have a better prognosis as there is less chance of furcation involvement. From an orthodontic point of view, it is important to note th …
The extraction of taurodont teeth can be complicated due to an apical shift of the root furcation. In periodontology, taurodont teeth can ha …
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.
Nabavizadeh N, Bressin A, Shboul M, Moreno Traspas R, Chia PH, Bonnard C, Szenker-Ravi E, Sarıbaş B, Beillard E, Altunoglu U, Hojati Z, Drutman S, Freier S, El-Khateeb M, Fathallah R, Casanova JL, Soror W, Arafat A, Escande-Beillard N, Mayer A, Reversade B. Nabavizadeh N, et al. EMBO Mol Med. 2023 Feb 8;15(2):e16478. doi: 10.15252/emmm.202216478. Epub 2023 Jan 18. EMBO Mol Med. 2023. PMID: 36652330 Free PMC article.
Here, we illustrate this point by identifying six patients with a recessive Osteogenesis Imperfecta (OI) and neonatal progeria syndrome. By integrating homozygosity mapping and RNA-seq, we delineated a deep intronic TAPT1 mutation (c.1237-52 G>A) that segregated …
Here, we illustrate this point by identifying six patients with a recessive Osteogenesis Imperfecta (OI) and neonatal progeria syn …
Features, genetics and their correlation in Jalili syndrome: a systematic review.
Daneshmandpour Y, Darvish H, Pashazadeh F, Emamalizadeh B. Daneshmandpour Y, et al. J Med Genet. 2019 Jun;56(6):358-369. doi: 10.1136/jmedgenet-2018-105716. Epub 2019 Jan 31. J Med Genet. 2019. PMID: 30705057
Jalili syndrome is a rare genetic disorder first identified by Jalili in Gaza. Amelogenesis imperfecta and cone-rode dystrophy are simultaneously seen in Jalili syndrome patients as the main and primary manifestations. ...
Jalili syndrome is a rare genetic disorder first identified by Jalili in Gaza. Amelogenesis imperfecta and cone-rode dystrophy …
Role of genes in oro-dental diseases.
Kavitha B, Priyadharshini V, Sivapathasundharam B, Saraswathi TR. Kavitha B, et al. Indian J Dent Res. 2010 Apr-Jun;21(2):270-4. doi: 10.4103/0970-9290.66646. Indian J Dent Res. 2010. PMID: 20657100 Free article. Review.
The functional regulatory aspect of genes in relation to oro-facial structures are discussed separately, i.e., in relation to tooth genesis, tooth agenesis (non-syndromic, syndromic), tooth structural alterations, syndromic oro-facial defects, bone diseases, …
The functional regulatory aspect of genes in relation to oro-facial structures are discussed separately, i.e., in relation to tooth genesis, …
Fatigue in adults with Osteogenesis Imperfecta.
Harsevoort AGJ, Gooijer K, van Dijk FS, van der Grijn DAFM, Franken AAM, Dommisse AMV, Janus GJM. Harsevoort AGJ, et al. BMC Musculoskelet Disord. 2020 Jan 3;21(1):6. doi: 10.1186/s12891-019-3000-7. BMC Musculoskelet Disord. 2020. PMID: 31900144 Free PMC article.
BACKGROUND: Osteogenesis Imperfecta (OI) is characterized by bone fragility, and features such as blue sclerae, dentinogenesis imperfecta, hearing loss, ligamentous laxity and short stature can be present. ...The aim of this study is to investigate whether adults wi …
BACKGROUND: Osteogenesis Imperfecta (OI) is characterized by bone fragility, and features such as blue sclerae, dentinogenesis imp …
108 results