Results 51 to 60 of about 143,001 (214)

Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways [PDF]

, 2016
OBJECTIVE: Evaluate the costs of offering non-invasive prenatal diagnosis (NIPD) for single gene disorders compared to traditional invasive testing to inform NIPD implementation into clinical practice.
Chitty, LS, Drury, S, Hill, M, Jenkins, L, Mason, S, Morris, S, Verhoef, TI   +6 more
core   +1 more source

Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis. [PDF]

, 2020
BACKGROUND: Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features.
Barker, R, Cockell, A, Haworth, A, Homfray, T, Pemberton, L, Ramachandran, V   +5 more
core   +1 more source

Thanatophoric Dysplasia

Journal of Nepal Paediatric Society, 2016
Thanatophoric Dysplasia (TD) is a severe skeletal dysplasia that is lethal in the neonatal period. There are two defined TD subtypes which have been classified clinically. The incidence is approximately 1/20,000 to 1/50,000. Type I TD being more frequent than Type II.
Daljit Singh, Shuvendu Roy, Sachendra Badal   +2 more
openaire   +3 more sources

Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications. [PDF]

, 2015
Fibroblast growth factors (FGFs) and their receptors (FGFRs) are transmembrane growth factor receptors with wide tissue distribution. FGF/FGFR signaling is involved in neoplastic behavior and also development, differentiation, growth, and survival.
Helsten, Teresa, Kurzrock, Razelle, Schwaederle, Maria   +2 more
core   +2 more sources

Current Care and Investigational Therapies in Achondroplasia. [PDF]

, 2017
The goal of this review is to evaluate the management options for achondroplasia, the most common non-lethal skeletal dysplasia. This disease is characterized by short stature and a variety of complications, some of which can be quite severe.
Bonafé, L., Gouze, E., Unger, S.
core   +1 more source

Thanatophoric Dysplasia

, 2009
Satish R. Raj, S. R. Wayne Chen, Robert S. Sheldon, Arti N. Shah, Bharat K. Kantharia, Ulrich Salzer, Bodo Grimbacher, Alexander K. C. Leung, Deepak Kamat, Genovefa D. Kolovou, Katherine K. Anagnostopoulou, Dennis V. Cokkinos, Takahiro Shinkai, Rosaline C. M. Quinlivan, Robert Beynon, Thomas Kolter, Ute Schepers, Konrad Sandhoff, Christophe Nicot, Werner Kempf, Reinhard Dummer, Günter Burg, Urban W. Geisthoff, Deborah Bartholdi, Albert Schinzel, Deborah Bartholdi, Albert Schinzel, Deborah Bartholdi, Albert Schinzel, Stefan R. Bornstein, Nenad Blau, Elizabeth Goldmuntz, John-John B. Schnog, Victor E. A. Gerdes, Jacky Bonaventure, Donatus Nohr, Anthony M. Marinaki, Monica Arenas, Robert F. Groff IV, Jason H. Huang, Hugo Ten Cate, Ayalew Tefferi, Han-Mou Tsai, Mofid Ibraheim, Amaj Ikomi, Bob Olsson, Hans Wadenvik, Julian Ilcheff, Hugo Ten Cate, Henri Bounameaux, Marc Righini, Christopher J. Boos, Gregory Y. H. Lip, Hugo Ten Cate, Hugo Ten Cate, Yuval Ramot, Neta Goldschmidt, Abraham Nyska, Hugo Ten Cate, Hugo Ten Cate, Hugo Ten Cate, Hugo Ten Cate, André B. P. Van Kuilenburg, Albert H. Van Gennip*, Alexander K. C. Leung, Christian A. Koch, Nicholas J. Sarlis, Douglas Forrest, Peter Kopp, Seda Sancak, Markus Eszlinger, Ralf Paschke, Seda Sancak, Ralf Paschke, Antonella Fioravanti, Maria Antonietta Mazzei, Giuseppina Coppola, Luca Volterrani, Hans-Peter Zenner, Ilse Maria Zalaman, Ulrike Schumacher, Ingo B. Autenrieth, Nitin Wadhani, Hari Red, Shah Azmoon, Harpreet Singh, Bramah N. Singh, David W. Brown, Tal Geva, Claudio Guarneri, Francesco Borgia, Mario Vaccaro, Norbert Müller, Jürgen Kohlhase, Andreas Erhardt, Freddy Mboti, Karina Yazdanbakhsh, Millicent Sutton, Jan-Luuk Hillebrands, Roel de Weger, Jan Rozing, Linda Leatherbury, Cecilia Lo, Jutta Engel, Elan D. Louis, Fabrizio Guarneri, Mario Vaccaro, Mark Berneburg, Thomas Schwarz, Gabriele A. Krombach, Alfonso Baldi, Koichiro Niwa, Sefik Guran, Trevor J. Pugh, Marco A. Marra, Deborah Bartholdi, Albert Schinzel, John Wolstenholme, Deborah Bartholdi, Albert Schinzel, Alexander K. C. Leung, Hardally R. Hegde, Joachim Richter, Hiroyuki Yamagishi, Keiichi Fukuda, Maximilian Ledochowski, Dietmar Fuchs, Pushpa Agrawal, Md. Suhail Alam†, Saurabh K. Garg†, Ralf Wienecke, Giovambattista Capasso, Mauro Bernardi, Franco Trevisani, Kimitoshi Nakamura, Shiro Matsumoto, Hiroshi Mitsubuchi, Fumio Endo, Kimitoshi Nakamura, Shiro Matsumoto, Hiroshi Mitsubuchi, Fumio Endo, Kimitoshi Nakamura, Shiro Matsumoto, Hiroshi Mitsubuchi, Fumio Endo   +145 more
  +4 more sources

Diagnosis of chromosomal abnormalities in a patient with thanatophoric dysplasia (TD) type I: The first report describing an important association between cytogenetic findings and TD. [PDF]

Am J Case Rep, 2012
Turgut M, Demirhan O, Tunc E, Bucak IH, Canoz PY, Temiz F, Tumgor G.   +6 more
europepmc   +3 more sources

K-Ras and β-catenin mutations cooperate with Fgfr3 mutations in mice to promote tumorigenesis in the skin and lung, but not in the bladder [PDF]

, 2011
The human fibroblast growth factor receptor 3 (FGFR3) gene is frequently mutated in superficial urothelial cell carcinoma (UCC). To test the functional significance of FGFR3 activating mutations as a ‘driver’ of UCC, we targeted the expression of mutated
Ahmad, I., Foth, M., Iwata, T., Leung, H.Y., Morris, C.-A., Sansom, O.J., Singh, L.B., Taketo, M.M., Wu, X.-R.   +8 more
core   +3 more sources

Neonatal osteosclerotic bone dysplasia (Raine syndrome)

Indian Pediatrics Case Reports, 2021
Background: Raine syndrome is a rare autosomal recessive neonatal osteosclerotic bone dysplasia caused due to mutations in the FAM20C gene. It has an early and aggressive onset which often results in death in the first few weeks of life, although there ...
Tarun Kumar Girigiri, Tejaswi Reddy, Alimelu Madireddy, Swapna Lingaldinna   +3 more
doaj   +1 more source

Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies. [PDF]

Hum Mol Genet, 2018
Kunova Bosakova M, Varecha M, Hampl M, Duran I, Nita A, Buchtova M, Dosedelova H, Machat R, Xie Y, Ni Z, Martin JH, Chen L, Jansen G, Krakow D, Krejci P.   +14 more
europepmc   +2 more sources