Results 81 to 90 of about 143,001 (214)

Human Chromosome 4 Sequencing And Single Nucleotide Polymorphism (Snp) Analysis Of An Achondroplasia Individual [PDF]

, 2011
Achondroplasia adalah penyebab paling umum kekerdilan manusia yang beranggota pendek dan mempengaruhi seramai 250,000 orang di seluruh ...
Lee , Ling Sze
core   +2 more sources

Meclozine facilitates proliferation and differentiation of chondrocytes by attenuating abnormally activated FGFR3 signaling in achondroplasia. [PDF]

PLoS ONE, 2013
Achondroplasia (ACH) is one of the most common skeletal dysplasias with short stature caused by gain-of-function mutations in FGFR3 encoding the fibroblast growth factor receptor 3. We used the drug repositioning strategy to identify an FDA-approved drug
Masaki Matsushita, Hiroshi Kitoh, Bisei Ohkawara, Kenichi Mishima, Hiroshi Kaneko, Mikako Ito, Akio Masuda, Naoki Ishiguro, Kinji Ohno   +8 more
doaj   +1 more source

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. [PDF]

, 2017
We studied three patients with severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. Whole-exome sequencing revealed homozygous missense mutations affecting exostosin-like 3 (EXTL3), a glycosyltransferase involved in heparan ...
Bortolomai, I., Bosticardo, M., Brauer, P.M., Buoncompagni, A., Capuder, K., Di Rocco, M., Dobbs, K., Du, L., Felgentreff, K., Freedman, G., Giliani, S., Hagedorn, E.J., Hayashida, A., Hayashida, K., Imberti, L., Lee, H., Linhardt, R.J., Luche, N., Manis, J., Marcovecchio, G.E., Martini, A., Notarangelo, L.D., Ott de Bruin, L., Park, P.W., Poliani, P.L., Poulain, F.E., Puck, J.M., Rath, P., Rivolta, C., Rosenzweig, S.D., Royer-Bertrand, B., Slavotinek, A., Sun Kuehn, H., Superti-Furga, A., van Rooijen, E., Volpi, S., Yamazaki, Y., Zon, L., Zúñiga-Pflücker, J.C.   +38 more
core   +4 more sources

Thanatophoric dysplasia [PDF]

Ultrasound in Obstetrics & Gynecology, 2001
L E, Machado, F, Bonilla-Musoles, N G, Osborne   +2 more
openaire   +5 more sources

Lack of Catch-Up Growth with Growth Hormone Treatment in a Child Born Small for Gestational Age Leading to a Diagnosis of Noonan Syndrome with a Pathogenic PTPN11 Variant

Case Reports in Endocrinology, 2021
Background. Growth hormone (GH) treatment increases the adult height of short children born small for gestational age (SGA). Catch-up growth is associated with a younger age, shorter height, and prepubertal status at the onset of GH treatment.
Daniel J. Olivieri, Lauren J. Massingham, Jennifer L. Schwab, Jose Bernardo Quintos   +3 more
doaj   +1 more source

Three-Dimensional Prenatal Ultrasonography of Thanatophoric Dysplasia: Initial Experience at Siriraj Hospital

Siriraj Medical Journal, 2007
Objective: To initially report the prenatal diagnosis of thanatophoric dysplasia (TD) by using both 2 dimensional (2D-US) and 3 dimensional (3D-US) ultrasonography.
Anuwat Sutanthavibul, Prapat Wanitpongpan, Prasert Sunsaneevithayakul   +2 more
doaj  

A new biometric: In utero growth curves for metacarpal and phalangeal lengths reveal an embryonic patterning ratio. [PDF]

, 2019
OBJECTIVES: The objectives of this study are to develop gestational age-specific growth curves for fetal third metacarpal and phalangeal lengths and to determine if fetal hand proportion is established in utero.
Afshar, Yalda, DeVore, Greggory, Gornbein, Jeffrey, Krakow, Deborah, Platt, Lawrence, Rao, Rashmi   +5 more
core   +1 more source

Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation

BMC Medical Genetics, 2011
Background Epidermal nevi (EN) represent benign congenital skin lesions following the lines of Blaschko. They result from genetic mosaicism, and activating FGFR3 and PIK3CA mutations have been implicated. Case presentation We report a female patient with
Clemmensen Ole J, Fagerberg Christina R, Bygum Anette, Fiebig Britta, Hafner Christian   +4 more
doaj   +1 more source

Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G (p.Ter807Gly) (X807G) mutation in FGFR3

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: We present perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type I (TD1) in a fetus. Case Report: A 28-year-old woman was referred for genetic counseling at 22 weeks of gestation because of abnormal prenatal
Shin-Wen Chen, Chih-Ping Chen, Liang-Kai Wang, Schu-Rern Chern, Pei-Chen Wu, Yen-Ni Chen, Chen-Ju Lin, Wen-Ling Chen, Wayseen Wang   +8 more
doaj   +1 more source

Principles Of Differentiation And Morphogenesis [PDF]

, 2016
Developmental biology is the science connecting genetics with anatomy, making sense out of both. The body builds itself from the instructions of the inherited DNA and the cytoplasmic system that interprets the DNA into genes and creates intracellular and
Gilbert, Scott F., Rice, R.
core   +1 more source