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Browse Dysplasia topic

Genetic aspects subtopic

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1-52 out of 52 article(s)
Title Author Type Date Words
A Case Report of Pycnodysostosis Associated with Multiple Pituitary Hormone Deficiencies and Response to Treatment. Verma, Vishesh; Singh, R.K. Clinical report Dec 1, 2020 2615
Gnathic Bones and Hyperparathyroidism: A Review on the Metabolic Bony Changes Affecting the Mandible and Maxilla in case of Hyperparathyroidism. Ibrahem, Hazim Mahmoud Jul 31, 2020 4830
Prefibrotic Myelofibrosis Presenting with Multiple Cerebral Embolic Infarcts and the Rare MPL W515S Mutation. Langabeer, Stephen E.; Tokar, Lisa Lee; Kearney, Laura; O'Brien, Cathal; Thavarajah, Kowshika; Barre Jun 30, 2020 2143
Solitary Juvenile Colonic Polyp Presenting Anaemia in Patients with Neurofibromatosis Type 1: A Case Report/Norofibromatozis Tip 1 Hastasinda Anemi ile Seyreden Izole Kolon Juvenil Polip: Olgu Sunumu. Bostanci, Mustafa Taner; Yilmaz, Ibrahim; Saydam, Mehmet; Seki, Ahmet Jun 1, 2020 1433
Oral Rehabilitation with Removable Partial Denture of a Patient with Cleidocranial Dysplasia. Ghomi, Ali Jamali; Soufdoost, Reza Sayyad; Barzegar, Mohammad Saeed; Hemmati, Mohammad Ali May 31, 2020 3337
Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases. Kumar, Virang; Couser, Natario L.; Pandya, Arti Apr 30, 2020 10901
Pathologic Features of Down Syndrome Myelodysplastic Syndrome and Acute Myeloid Leukemia: A Report From the Children's Oncology Group Protocol AAML0431. Mast, Kelley J.; Taub, Jeffrey W.; Alonzo, Todd A.; Gamis, Alan S.; Mosse, Claudio A.; Mathew, Prasa Apr 1, 2020 4971
Quantitative Analysis of Progenitor Cell and Stem Cell Compartments in Normal versus Leukoplakia Affected Oral Mucosa--An Observational Study. Mazumdar, Anjana; Ghose, Sandip; Hazra, Avijit; Pramanick, Debasish Dec 2, 2019 3032
Mutation Profiling of Premalignant Colorectal Neoplasia. Karczmarski, Jakub; Goryca, Krzysztof; Pachlewski, Jacek; Dabrowska, Michalina; Pysniak, Kazimiera; Nov 30, 2019 6457
Features of Monostotic Fibrous Dysplasia in Maxilla using Cone Beam Computed Tomography. Pillai, Devika S.; Babu, G. Subhas; Hegde, Shruthi; Ajila, Vidya; Ram, Sachin Sep 1, 2019 1951
A case report of a patient with Schimke immuno-osseous dysplasia and co-morbid Moyamoya Syndrome. Govender, R.; Naicker, E.; Pillay, K. Sep 1, 2019 1590
A Case of Cleidocranial Dysplasia with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatment. Camtosun, Emine; Akinci, Aysehan; Demiral, Emine; Tekedereli, Ibrahim; Sigirci, Ahmet Sep 1, 2019 2614
Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases. Wang, Wenbo; Wu, Qichang; Sun, Li; Zhong, Xiaohong; Xu, Yasong; Xie, Xiaojian; Su, Zhiying Jul 31, 2019 1981
Fifteen year story of a balanced translocation t(2;7)(p21;p15): Unraveling the phenotype of Saethre-Chotzen/Robinow-Sarouf syndrome or still undiagnosed skeletal dysplasia after next generation sequencing? Temel, Sehime Gulsun; Turkgenc, Burcu; Aguilar, Raul Pina; Curral, Benjamin; Lowther, Chelsea; Wilch Jun 1, 2019 286
HDR Syndrome Accompanying Type 1 Diabetes Mellitus and Hypopituitarism. Can, Mustafa; Karakurt, Feridun; Kocabas, Muhammed; Cordan, Ilker; Karakose, Melia; Kulaksizoglu, Mu May 31, 2019 2206
Mechanistic effect of the human GJB6 gene and its mutations in HaCaT cell proliferation and apoptosis. Lu, Yuting; Zhang, Ruili; Wang, Zhenying; Zhou, Shuhua; Song, Yali; Chen, Lamei; Chen, Nan; Liu, Wen Report Sep 1, 2018 3560
AN UNUSUAL CASE OF FAMILIAL FCOD. Selvam, Saravana S.; Kumar, C.S.C. Satish; Jeeva, Sathiya Report Aug 13, 2018 2221
Progressive Pseudorheumatoid Condrodysplasia, an Unusual Cause of Joint Swelling and Stiffness. Kilic, Esra Report Jun 1, 2018 1048
Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia. Jacob, Marianne; Menon, Surabhi; Botti, Christina; Marshall, Ian Jan 1, 2018 2172
The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes. Globa, Evgenia; Zelinska, Nataliya; Dauber, Andrew Jan 1, 2018 3460
Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL). Kong, Lei; Wang, Dongxu; Li, Shanshan; Zhang, Chengsheng; Jiang, Xiuyun; Guan, Qingbo; Zhang, Zhenli Jan 1, 2018 3539
Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation. Hoppmann, Julia; Gesing, Julia; Silve, Caroline; Leroy, Chrystel; Bertsche, Astrid; Hirsch, Franz Wo Case study Dec 1, 2017 3547
A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans. Tuhan, Hale; Ceylaner, Serdar; Nalbantoglu, Ozlem; Acar, Sezer; Abaci, Ayhan; Bober, Ece; Demir, Kor Case study Dec 1, 2017 2101
Ellis-van Creveld with an unusual dental anomaly: A case report. Nethan, Suzanne Tanya; Sinha, Shruti; Chandra, Sunira Case study Sep 1, 2017 1991
A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome. Chu, Xue-Ying; Li, Yue-Peng; Nie, Min; Wang, Ou; Jiang, Yan; Li, Mei; Xia, Wei-Bo; Xing, Xiao-Ping Case study Jul 27, 2017 1595
Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome. Wang, Li; Lin, Qiong-Fen; Wang, Hong-Yang; Guan, Jing; Lan, Lan; Xie, Lin-Yi; Yu, Lan; Yang, Ju; Zha Report Jun 1, 2017 3307
A NEW MUTATION IN THE WISP3 GENE (c.935_936insT;p. C314Lfs*7) IN A PATIENT WITH PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA. Abur, Ummet; Ogur, Gonul; Aykut, Ayca; Alanay, Yasemin Case study Jun 1, 2017 290
Homozygous SHOX Gene Deletion Detected by Array-CGH in a Girl with Langer Mesomelic Dysplasia. Najafli, Adam; Karaman, Birsen; Satkin, Bilge Nihan; Altunoglu, Umut; Uyguner, Oya; Basaran, Seher Case study Jun 1, 2017 252
Hyperandrogenism and Skeletal Dysplasia: Evaluation of 7 Patients with PAPSS2 Gene Mutation. Alkaya, Dilek Uludag; Yilmaz, Saliha; Evliyaoglu, Olcay; Bilguvar, Kaya; Gunel, Murat; Tuysuz, Beyha Author abstract Jun 1, 2017 364
Decreased Plasma COMP and Increased Plasma CTX-II Levels in a Chinese Pseudoachondroplasia Family with Novel COMP Mutation. Gu, Chongjuan; Yang, Zhao; Tan, Hao; Zhang, Yingying; Lu, Yilu; Ma, Yongxin Report Jan 1, 2017 4723
Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family. Liu, Hong-Yan; Xiao, Ji-Fang; Huang, Jia; Wang, Yue; Wu, Dong; Li, Tao; Wang, Hong-Dan; Guo, Liang-J Report Jan 1, 2017 2785
An unusual coexistence of progressive pseudorheumatoid dysplasia and relapsing polychondritis. Kilic, Gamze; Kilic, Erkan; Akgul, Ozgur; Atakul, Nimet; Ozgocmen, Salih Sep 1, 2016 1743
Implants in children and inherited disorders. Poorian, Behnaz; Dehghani, Nima; Bemanali, Mehdi Report Aug 1, 2015 5414
Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia. Watson, C.M.; Crinnion, L.A.; Gleghorn, L.; Newman, W.G.; Ramesar, R.; Beighton, P.; Wallis, G.A. Report Jul 1, 2015 4177
Endocrine Manifestations of von Hippel-Lindau Disease. Cassol, Clarissa; Mete, Ozgur Feb 1, 2015 4695
A case report of late survival in Ellis: Van Creveld syndrome. Ray, Hemant Narayan Oct 23, 2014 1452
A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene. Karaer, Kadri; Yuksel, Zafer; Yalinbas, Esin; Scherer, Gerd Case study Jun 1, 2014 2001
A case of metatropic dysplasia: operative treatment of severe kyphoscoliosis and limb deformities. Song, Hae Ryong; Sinha, Shivam; Song, Sang Heon; Suh, Seung Woo Clinical report Nov 1, 2013 1512
The role of animal models in determining the genetic bases of osteosarcoma. Qasim, Haider Saddam Apr 1, 2013 9944
Dysplastic lesions in inflammatory bowel disease: molecular pathogenesis to morphology. Matkowskyj, Kristina A.; Chen, Zongming E.; Rao, M. Sambasiva; Yang, Guang-Yu Report Mar 1, 2013 10957
Confirmation of the recurrent ACVR1 617G>A mutation in South Africans with fibrodysplasia ossificans progressiva. Dandara, Collet; Scott, Chris; Urban, Mike; Fieggen, Karen; Arendse, Regan; Beighton, Peter Report Jul 1, 2012 1681
Hip dysplasia: a painful progression: some large breed dogs are especially susceptible to this joint disease that can cause signs cant pain and crippling. May 1, 2012 1211
IMMUNOHISTOCHEMICAL EXPRESSION OF PROTEIN p53 IN ORAL EPITHELIAL DYSPLASIA AND ORAL SQUAMOUS CELL CARCINOMA. Ara, Nighat; Atique, Muhammad; Bukhari, Syed Gulzar Ali; Akhter, Farhan; Jamal, Shahid; Sarfraz, Tar Report Dec 31, 2011 2170
Thanatophoric dysplasia: a rare entity. Naveen, N.S.; Murlimanju, B.V.; Kumar, Vishal; Pulakunta, Thejodhar; H., Jeeyar Case study May 1, 2011 1288
Camurati-Engelmann disease. Bellew, Neil; Wagener, Georg Disease/Disorder overview Mar 1, 2011 1933
Understanding hip dysplasia: surgical treatment is available for this condition, but palliative care is the best approach in most cases. Here's why. Jan 1, 2011 1166
Cleidocranial dysplasia. Venkateswarlu, M.; Geetha, P.; Lakshmi, kavitha N. Report Oct 1, 2009 1619
Prosthetic rehabilitation of a 7 year old child with hypohidrotic ectodermal dysplasia. Rani, T.S.; Reddy, R.E.; Manjula, M.; Sreelakshmi, N. Report Oct 1, 2009 1761
Understand hip dysplasia: some large breeds are especially susceptible. Here's what you should know about this potentially crippling joint disease. Ewing, Tom Mar 1, 2008 1224
Fibrous dysplasia of the frontal bone. Issing, Wolfgang J. Oct 1, 2006 1390
Increased concentrations of genotype-interpreted Ca 19-9 in urine of bladder cancer patients mark diffuse atypia of the urothelium. Vestergaard, Else Marie; Wolf, Hans; Orntoft, Torben F. Feb 1, 1998 4842
New tool yields dwarfism gene ... while an old way pinpoints another. Oct 1, 1994 533

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