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Journal articles on the topic 'Syndromic and non-syndromic'

Author: Grafiati

Published: 4 June 2021

Last updated: 1 February 2022

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1

Biesecker, LG, and J. Johnston. "Syndromic and non-syndromic GLI3 phenotypes." Clinical Genetics 68, no. 3 (2005): 284. http://dx.doi.org/10.1111/j.1399-0004.2005.0485a.x.

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2

CAGLAYAN, AHMET O. "Genetic causes of syndromic and non-syndromic autism." Developmental Medicine & Child Neurology 52, no. 2 (2010): 130–38. http://dx.doi.org/10.1111/j.1469-8749.2009.03523.x.

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3

Laird, Dale W. "Syndromic and non-syndromic disease-linked Cx43 mutations." FEBS Letters 588, no. 8 (2014): 1339–48. http://dx.doi.org/10.1016/j.febslet.2013.12.022.

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4

Le Tourneau, Thierry, Jean Mérot, Antoine Rimbert, et al. "Genetics of syndromic and non-syndromic mitral valve prolapse." Heart 104, no. 12 (2018): 978–84. http://dx.doi.org/10.1136/heartjnl-2017-312420.

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Mitral valve prolapse (MVP) is a common condition that affects 2%–3% of the general population. MVP is thought to include syndromic forms such as Marfan syndrome and non-syndromic MVP, which is the most frequent form. Myxomatous degeneration and fibroelastic deficiency (FED) are regarded as two different forms of non-syndromic MVP. While FED is still considered a degenerative disease associated with ageing, frequent familial clustering has been demonstrated for myxomatous MVP. Familial and genetic studies led to the recognition of reduced penetrance and large phenotypic variability, and to the

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5

ȘOMFELEAN, Oana-Maria. "Rhinolalia aperta in a syndromic and non-syndromic context." Revista Română de Terapia Tulburărilor de Limbaj şi Comunicare 3, no. 2 (2017): 53–67. http://dx.doi.org/10.26744/rrttlc.2017.3.2.07.

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6

Bergqvist, C., P. Ramia, O. Abbas, and M. Kurban. "Genetics of syndromic and non-syndromic hereditary nail disorders." Clinical Genetics 91, no. 6 (2016): 813–23. http://dx.doi.org/10.1111/cge.12852.

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7

Sasidharan, Manjima, ViashaliKanhoba Keluskar, and AnjanaSatish Bagewadi. "Non syndromic double lip- a rare case report." Annals of Oral Health and Dental Research 2, no. 1 (2018): C3–5. http://dx.doi.org/10.21276/aohdr.1873.

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8

Basoya, Seema, Sridevi Koduri, Ishita Gupta, and VinodVijay Chandar. "Familial non-syndromic oligodontia." Journal of Indian Academy of Oral Medicine and Radiology 27, no. 3 (2015): 437. http://dx.doi.org/10.4103/0972-1363.170489.

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9

Verbakel, Sanne K., Ramon A. C. van Huet, Camiel J. F. Boon, et al. "Non-syndromic retinitis pigmentosa." Progress in Retinal and Eye Research 66 (September 2018): 157–86. http://dx.doi.org/10.1016/j.preteyeres.2018.03.005.

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10

Mohan, R. P. S., S. Verma, A. Singh, and U. Singh. "Non-syndromic double lip." Case Reports 2013, may22 1 (2013): bcr2013008664. http://dx.doi.org/10.1136/bcr-2013-008664.

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11

Kallury, A., U. Jain, S. Shekhar, and G. Thakur. "Non-syndromic supernumerary premolars." Case Reports 2011, oct20 1 (2011): bcr0820114680. http://dx.doi.org/10.1136/bcr.08.2011.4680.

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12

Megaw, Roly, and Toby W. Hurd. "Photoreceptor actin dysregulation in syndromic and non-syndromic retinitis pigmentosa." Biochemical Society Transactions 46, no. 6 (2018): 1463–73. http://dx.doi.org/10.1042/bst20180138.

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Retinitis pigmentosa (RP) is the leading cause of inherited blindness. RP is a genetically heterogeneous disorder, with more than 100 different causal genes identified in patients. Central to disease pathogenesis is the progressive loss of retinal photoreceptors. Photoreceptors are specialised sensory neurons that exhibit a complex and highly dynamic morphology. The highly polarised and elaborated architecture of photoreceptors requires precise regulation of numerous cytoskeletal elements. In recent years, significant work has been placed on investigating the role of microtubules (specifically

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13

Patel, Rashmi, Chandra Bhan Singh, Visweswar Bhattacharya, Subodh Kumar Singh, and Akhtar Ali. "GLI3mutations in syndromic and non-syndromic polydactyly in two Indian families." Congenital Anomalies 56, no. 2 (2016): 94–97. http://dx.doi.org/10.1111/cga.12139.

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14

Chu, Andrew S., Pierre A. Russo, and Rebecca G. Wells. "Cholangiocyte cilia are abnormal in syndromic and non-syndromic biliary atresia." Modern Pathology 25, no. 5 (2012): 751–57. http://dx.doi.org/10.1038/modpathol.2011.212.

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15

Assadsangabi, Reza, Mehrdad Hajmomenian, Larissa T. Bilaniuk, and Arastoo Vossough. "Morphology of the foramen magnum in syndromic and non-syndromic brachycephaly." Child's Nervous System 31, no. 5 (2015): 735–41. http://dx.doi.org/10.1007/s00381-015-2639-0.

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16

Koenig, Julie L., Misha Amoils, Madeline M. Grade, Kay W. Chang, and Mai Thy Truong. "Renal ultrasound abnormalities in children with syndromic and non-syndromic microtia." International Journal of Pediatric Otorhinolaryngology 113 (October 2018): 173–76. http://dx.doi.org/10.1016/j.ijporl.2018.07.026.

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17

Cardoso, Luís, Mark Stevenson, and Rajesh V. Thakker. "Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma." Human Mutation 38, no. 12 (2017): 1621–48. http://dx.doi.org/10.1002/humu.23337.

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18

Munawar, Suqrat, Alexander P. Marston, Terral Patel, Shaun A. Nguyen, and David R. White. "Outcomes Assessment of Multi-Level Sleep Surgery in Syndromic Versus Non-Syndromic Children." Annals of Otology, Rhinology & Laryngology 129, no. 6 (2020): 556–64. http://dx.doi.org/10.1177/0003489419900201.

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Objectives: Analyze the differences in length of stay, cost, disposition, and demographics between syndromic and non-syndromic children undergoing multi-level sleep surgery. Methods: Children with sleep disordered breathing or obstructive sleep apnea that had undergone sleep surgeries were isolated from the 1997 to 2012 editions of the Kids’ Inpatient Database, Healthcare Cost and Utilization Project, Agency for Healthcare Research and Quality. Children were then classified as syndromic or non-syndromic and stratified by level of sleep surgery (tonsillectomy & adenoidectomy, tonsillectomy

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19

Inaba, Akira, Akiko Maeda, Akiko Yoshida, et al. "Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients." International Journal of Molecular Sciences 21, no. 21 (2020): 7817. http://dx.doi.org/10.3390/ijms21217817.

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USH2A is a common causal gene of retinitis pigmentosa (RP), a progressive blinding disease due to retinal degeneration. Genetic alterations in USH2A can lead to two types of RP, non-syndromic and syndromic RP, which is called Usher syndrome, with impairments of vision and hearing. The complexity of the genotype–phenotype correlation in USH2A-associated RP (USH2A-RP) has been reported. Genetic and clinical characterization of USH2A-RP has not been performed in Japanese patients. In this study, genetic analyses were performed using targeted panel sequencing in 525 Japanese RP patients. Pathogeni

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20

V., Radoi. "Non-syndromic congenital hearing loss." Gineco.eu 11, no. 4 (2015): 193–95. http://dx.doi.org/10.18643/gieu.2015.193.

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21

Mohan, R. P. S., S. Verma, N. Agarwal, and U. Singh. "Non-syndromic hereditary gingival fibromatosis." Case Reports 2013, sep12 1 (2013): bcr2012008542. http://dx.doi.org/10.1136/bcr-2012-008542.

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22

Takeichi, Takuya, and Masashi Akiyama. "Inherited ichthyosis: Non-syndromic forms." Journal of Dermatology 43, no. 3 (2016): 242–51. http://dx.doi.org/10.1111/1346-8138.13243.

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23

Crepel, An, Veerle De Wolf, Nathalie Brison, et al. "Association ofCDH11with non-syndromic ASD." American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 165, no. 5 (2014): 391–98. http://dx.doi.org/10.1002/ajmg.b.32243.

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24

Petersen, MB. "Non-syndromic autosomal-dominant deafness." Clinical Genetics 62, no. 1 (2002): 1–13. http://dx.doi.org/10.1034/j.1399-0004.2002.620101.x.

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25

Petersen, MB, and PJ Willems. "Non-syndromic, autosomal-recessive deafness." Clinical Genetics 69, no. 5 (2006): 371–92. http://dx.doi.org/10.1111/j.1399-0004.2006.00613.x.

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26

Matalova, E., J. Fleischmannova, P. T. Sharpe, and A. S. Tucker. "Tooth Agenesis: from Molecular Genetics to Molecular Dentistry." Journal of Dental Research 87, no. 7 (2008): 617–23. http://dx.doi.org/10.1177/154405910808700715.

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Tooth agenesis may originate from either genetic or environmental factors. Genetically determined hypodontic disorders appear as isolated features or as part of a syndrome. Msx1, Pax9, and Axin2 are involved in non-syndromic hypodontia, while genes such as Shh, Pitx2, Irf6, and p63 are considered to participate in syndromic genetic disorders, which include tooth agenesis. In dentistry, artificial tooth implants represent a common solution to tooth loss problems; however, molecular dentistry offers promising solutions for the future. In this paper, the genetic and molecular bases of non-syndrom

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27

Doll, Julia, Barbara Vona, Linda Schnapp, et al. "Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families." Genes 11, no. 11 (2020): 1329. http://dx.doi.org/10.3390/genes11111329.

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The current molecular genetic diagnostic rates for hereditary hearing loss (HL) vary considerably according to the population background. Pakistan and other countries with high rates of consanguineous marriages have served as a unique resource for studying rare and novel forms of recessive HL. A combined exome sequencing, bioinformatics analysis, and gene mapping approach for 21 consanguineous Pakistani families revealed 13 pathogenic or likely pathogenic variants in the genes GJB2, MYO7A, FGF3, CDC14A, SLITRK6, CDH23, and MYO15A, with an overall resolve rate of 61.9%. GJB2 and MYO7A were the

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28

Berdón-Zapata, V., M. Granillo-Álvarez, M. Valdés-Flores, J. E. García-Ortiz, S. Kofman-Alfaro, and J. C. Zenteno. "p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly." Journal of Orthopaedic Research 22, no. 1 (2004): 1–5. http://dx.doi.org/10.1016/s0736-0266(03)00166-9.

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29

Kulkarni, Gayatri, and Suvidya Ranade. "Molecular studies on ARX gene in syndromic and non-syndromic mental retardation." Molecular Cytogenetics 7, Suppl 1 (2014): P75. http://dx.doi.org/10.1186/1755-8166-7-s1-p75.

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30

Hadadi, A. I., D. Al Wohaibi, N. Almtrok, N. Aljahdali, O. AlMeshal, and M. Badri. "Congenital anomalies associated with syndromic and non-syndromic cleft lip and palate." JPRAS Open 14 (December 2017): 5–15. http://dx.doi.org/10.1016/j.jpra.2017.06.001.

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31

Hong, Y. Y., F. Y. Yu, J. F. Qu, F. Chen, and T. J. Li. "Fibroblasts Regulate Variable Aggressiveness of Syndromic Keratocystic and Non-syndromic Odontogenic Tumors." Journal of Dental Research 93, no. 9 (2014): 904–10. http://dx.doi.org/10.1177/0022034514542108.

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32

Fernández, Almudena, Masahiro Hayashi, Gema Garrido, et al. "Genetics of non‐syndromic and syndromic oculocutaneous albinism in human and mouse." Pigment Cell & Melanoma Research 34, no. 4 (2021): 786–99. http://dx.doi.org/10.1111/pcmr.12982.

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33

Roesch, Sebastian, Gerd Rasp, Antonio Sarikas, and Silvia Dossena. "Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review." Audiology Research 11, no. 3 (2021): 423–42. http://dx.doi.org/10.3390/audiolres11030040.

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Hearing loss is the most common sensorial deficit in humans and one of the most common birth defects. In developed countries, at least 60% of cases of hearing loss are of genetic origin and may arise from pathogenic sequence alterations in one of more than 300 genes known to be involved in the hearing function. Hearing loss of genetic origin is frequently associated with inner ear malformations; of these, the most commonly detected is the enlarged vestibular aqueduct (EVA). EVA may be associated to other cochleovestibular malformations, such as cochlear incomplete partitions, and can be found

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34

Vasco de Albuquerque Albuquerque, Edoarda, Mariana Ferreira de Assis Funari, Elisângela Pereira de Souza Quedas, et al. "Genetic investigation of patients with tall stature." European Journal of Endocrinology 182, no. 2 (2020): 139–47. http://dx.doi.org/10.1530/eje-19-0785.

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Context Patients with tall stature often remain undiagnosed after clinical investigation and few studies have genetically assessed this group, most of them without a systematic approach. Objective To assess prospectively a group of individuals with tall stature, with and without syndromic features, and to establish a molecular diagnosis for their growth disorder. Design Screening by karyotype (n = 42), chromosome microarray analyses (CMA) (n = 16), MS-MLPA (n = 2) targeted panel (n = 12) and whole-exome sequencing (n = 31). Patients and methods We selected 42 patients with tall stature after e

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35

Ilenghoven, Devananthan, Hamidah Mohd Zainal, Normala Haji Basiron, and Mohd Ali Mat Zain. "A Case of Non-syndromic Craniosynostosis." International Journal of Human and Health Sciences (IJHHS) 5, no. 2 (2020): 254. http://dx.doi.org/10.31344/ijhhs.v5i2.270.

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Craniosynostosis refers to skull deformities secondary to the premature closure of cranial suture. Isolated or multiple sutures craniosynostosis is more common than syndromic craniosynostosis. Deformities with synostosis are stigmatizing, and this provides a strong aesthetic indication for surgical correction in the non-syndromic group of patients. We present a case of non-syndromic sagittal synostosis in a ten months old patient underwent open surgical repair for skull deformity.International Journal of Human and Health Sciences Vol. 05 No. 02 April’21 Page: 254-257

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36

Limongelli, Giuseppe, Giuseppe Pacileo, and Raffaele Calabrò. "Is sudden cardiac death predictable in LEOPARD syndrome?" Cardiology in the Young 16, no. 6 (2006): 599–601. http://dx.doi.org/10.1017/s1047951106001247.

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We report the sudden cardiac death of a young male presenting with classic clinical features of LEOPARD syndrome, shown to be due to a mutation in the PTPN11 gene, and severe non obstructive hypertrophic cardiomyopathy. We also discuss briefly the usefulness of prophylactic risk stratification in patients with syndromic and non syndromic hypertrophic cardiomyopathy.

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37

Millacura, Natalia, Rosa Pardo, Lucia Cifuentes, and José Suazo. "Effects of folic acid fortification on orofacial clefts prevalence: a meta-analysis." Public Health Nutrition 20, no. 12 (2017): 2260–68. http://dx.doi.org/10.1017/s1368980017000878.

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AbstractObjectiveOrofacial clefts (OFC) are the most prevalent craniofacial birth defect. Folic acid (FA) supplementation has been demonstrated as an effective intervention to reduce risk of OFC occurrence. However, the effect of mandatory FA fortification of wheat and/or maize flour on OFC prevalence has shown controversial results among countries adopting this policy. Thus, we performed a meta-analysis to synthesize the available evidence evaluating the global impact of this mandatory policy on OFC occurrence.DesignLiterature search in conventional and grey medical/scientific databases showe

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38

SANTANDER, IRIS ESPINOZA, PAULA REYES-RIOS, ANGELA CASTILLO, BLANCA URZÚA, and ANA ORTEGA-PINTO. "COMPARISON OF CELLULAR PROLIFERATION AND MELANOCYTES IN NON-SYNDROMIC AND SYNDROMIC ODONTOGENIC KERATOCYSTS." Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology 129, no. 1 (2020): e180-e181. http://dx.doi.org/10.1016/j.oooo.2019.06.766.

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39

Assadsangabi, Reza, and Arastoo Vossough. "Morphology of the foramen magnum in syndromic and non-syndromic brachycephaly—authors’ reply." Child's Nervous System 31, no. 8 (2015): 1215. http://dx.doi.org/10.1007/s00381-015-2758-7.

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40

Cameselle-Teijeiro, José Manuel, Ozgur Mete, Sylvia L. Asa, and Virginia LiVolsi. "Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates." Endocrine Pathology 32, no. 1 (2021): 77–101. http://dx.doi.org/10.1007/s12022-020-09661-y.

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Abstract Cancer derived from thyroid follicular epithelial cells is common; it represents the most common endocrine malignancy. The molecular features of sporadic tumors have been clarified in the past decade. However the incidence of familial disease has not been emphasized and is often overlooked in routine practice. A careful clinical documentation of family history or familial syndromes that can be associated with thyroid disease can help identify germline susceptibility-driven thyroid neoplasia. In this review, we summarize a large body of information about both syndromic and non-syndromi

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41

Parul Uppal Malhotra, Yagyeshwar Malhotra, Neera Ohri, and Anindita Mallik. "Non-Syndromic Hypodontia: A Case Report." International Healthcare Research Journal 4, no. 7 (2020): CR3—CR6. http://dx.doi.org/10.26440/ihrj/0407.10287.

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Hypodontia is the most common dentofacial anomaly observed in humans. It can be syndromic or an isolated trait. Missing teeth not only affects functionality of dentition but also aesthetically looks unpleasing. In this case report, a 12 year old girl is presented with agenesis of four permanent teeth. On examination, patient was found to be suffering from non syndromic hypodontia. Restorative and Prosthetic treatment was done to rehabilitate the case

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42

Mali, Santosh, Freny Rashmiraj Karjodkar, Subodh Sontakke, and Kaustubh Sansare. "Supernumerary teeth in non-syndromic patients." Imaging Science in Dentistry 42, no. 1 (2012): 41. http://dx.doi.org/10.5624/isd.2012.42.1.41.

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43

Nagaraj, Tejavathi, Soniya Kongbrailatpam, Yasir Shafeeq Mohiyuddin, and Ijum Doye. "Non-syndromic oligodontia: A case report." International Journal of Medical and Dental Case Reports 7, no. 1 (2020): 1–3. http://dx.doi.org/10.15713/ins.ijmdcr.146.

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44

DERİNDAĞ, Gözde, Nebiha Hilal BİLGE, and Osman Murat BİLGE. "Non-Syndromic Oligodontia: Two Case Reports." Turkiye Klinikleri Journal of Dental Sciences Cases 2, no. 3 (2016): 120–23. http://dx.doi.org/10.5336/dentalcase.2016-53874.

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45

Shim, Kyu-Won, Eun-Kyung Park, Ju-Seong Kim, Yong-Oock Kim, and Dong-Seok Kim. "Neurodevelopmental Problems in Non-Syndromic Craniosynostosis." Journal of Korean Neurosurgical Society 59, no. 3 (2016): 242. http://dx.doi.org/10.3340/jkns.2016.59.3.242.

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46

Morford, Lorri, Liliana Otero, David Fardo, and James Hartsfield. "Genetics and non-syndromic facial growth." Journal of Pediatric Genetics 02, no. 01 (2015): 009–20. http://dx.doi.org/10.3233/pge-13041.

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47

Piatto, Vânia B., Ellen C. T. Nascimento, Fabiana Alexandrino, et al. "Molecular genetics of non-syndromic deafness." Brazilian Journal of Otorhinolaryngology 71, no. 2 (2005): 216–22. http://dx.doi.org/10.1016/s1808-8694(15)31313-6.

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48

Boyadjiev, SA. "Genetic analysis of non-syndromic craniosynostosis." Orthodontics & Craniofacial Research 10, no. 3 (2007): 129–37. http://dx.doi.org/10.1111/j.1601-6343.2007.00393.x.

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49

Venkatesh, M. D., Nikhil Moorchung, and Bipin Puri. "Genetics of non syndromic hearing loss." Medical Journal Armed Forces India 71, no. 4 (2015): 363–68. http://dx.doi.org/10.1016/j.mjafi.2015.07.003.

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50

Schrijver, Iris. "Hereditary Non-Syndromic Sensorineural Hearing Loss." Journal of Molecular Diagnostics 6, no. 4 (2004): 275–84. http://dx.doi.org/10.1016/s1525-1578(10)60522-3.

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