Results 61 to 70 of about 66,813 (153)

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

Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell‐Free DNA? A Systematic Literature Review

Prenatal Diagnosis, Volume 45, Issue 9, Page 1139-1150, August 2025.
ABSTRACT Objective Monogenic disorders (MDs), often associated with developmental delay, intellectual disability, hypotonia, or dysmorphic facial features, typically go undetected during pregnancy. These disorders are frequently caused by de novo single nucleotide variants (SNVs), which are not currently covered by routine non‐invasive prenatal testing
Kristína Valovičová, Karin E. M. Diderich, Wichor M. Bramer, Sander Lamballais, Malgorzata Ilona Srebniak   +4 more
wiley   +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  

Prenatal multidisciplinary counseling for fetal congenital anomalies: A narrative review

International Journal of Gynecology &Obstetrics, Volume 169, Issue 2, Page 498-510, May 2025.
Abstract Introduction Prenatal multidisciplinary counseling for fetuses with congenital anomalies involves a collaborative approach, integrating expertise from various medical fields. Aims and Approach This comprehensive strategy aims to provide expectant parents with accurate information about the diagnosis, potential outcomes, and available ...
Licia Lugli, Cecilia Rossi, Alberto Berardi, Marisa Pugliese, Pier Luca Ceccarelli, Filomena Giulia Sileo, Giuseppe Chiossi, Giannina Contu, Olga Calabrese, Antonio La Marca, Emma Bertucci   +10 more
wiley   +1 more source

Antenatal diagnosis of Thanatophoric dysplasia: a case report and review of literature [PDF]

, 2017
Thanatophoric dysplasia is the lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and short-limb dwarfism. Foetus has short neck, narrow thoracic cage and protruberant abdomen.
Kocherla, Keerthi, Kocherla, Vasantha
core  

Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study

Acta Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 5, Page 860-874, May 2025.
Of the 147 SD fetuses, 58 cases with negative CMA results underwent WES, and 21 genes with pathogenic/likely pathogenic variants were detected in 21 cases, including FGFR3 (n = 11), COL1A1 (n = 2), COL1A2 (n = 1), RUNX2 (n = 1), COL2A1 (n = 1), LMX1B (n = 1), GLI3 (n = 1), DYNC2H1 (n = 1), ALPL (n = 1), and SHOX (n = 1).
Mengting Jiang, Bin Zhang, Jing Wang, Wei Qiao, Xiuzhen Mao, Bin Yu   +5 more
wiley   +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

Uptake rates for non‐invasive prenatal screening for single‐gene disorders associated with advanced paternal age

Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.
Abstract This study sought to quantify uptake rates of non‐invasive prenatal screening for de novo single‐gene disorders (NIPS‐SGD) in pregnant subjects whose reproductive partner is of advanced paternal age (APA) and to determine individual parameters associated with higher test uptake rates.
Kylie Katz, Justin S. Brandt, Gary Heiman, Laurie Simone, Shama Khan, Pranali Shingala, Elena Ashkinadze   +6 more
wiley   +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

Incremental yield of prenatal exome sequencing in fetuses with skeletal system abnormalities: A systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 4, Page 604-614, April 2025.
Our study suggests that exome sequencing adds approximately 60% of the diagnostic yield in fetuses with skeletal abnormalities reported in previous literature. The dysplasia phenotypes had a higher incremental yield, whereas the dysostoses group according to this study had a relatively lower yield, especially in the isolated dysostoses group.
Yan Wang, Yuan Lv, Jia Yao, Hao Ding, Gang Li, Jianmin Li, Lizhu Chen   +6 more
wiley   +1 more source