| 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 |
