Results 101 to 110 of about 143,001 (214)

Fetal thanatophoric dysplasia

Sri Lanka Journal of Obstetrics and Gynaecology, 2017
Thanatophoric dysplasia (TD) is a rare autosomal dominant lethal skeletal dysplasia with two subtypes. Mutations in the fibroblast growth factor receptor 3 gene (FGFR3) results in both subtypes. In prenatal diagnosis of TD by three-dimensional ultrasound examination in second trimester aids in visualizing facial features and other soft tissue findings ...
M. F. Samsudeen, C. G. Maggonage, I. G. Wedisha, R. Thuvaratheepan, A. Kaluarachchi   +4 more
openaire   +2 more sources

Identification and characterization of an inhibitory fibroblast growth factor receptor 2 (FGFR2) molecule, up-regulated in an Apert Syndrome mouse model [PDF]

, 2011
AS (Apert syndrome) is a congenital disease composed of skeletal, visceral and neural abnormalities, caused by dominant-acting mutations in FGFR2 [FGF (fibroblast growth factor) receptor 2].
Anderson, Beenken, Bochukova, Burgar, Celli, Cohen, De Moerlooze, Duan, Duchesne, Ezzat, Fairbanks, Hajihosseini, Hajihosseini, Hajihosseini, Hajihosseini, Hajihosseini, Hanneken, Ibrahimi, Jang, Jang, Jang, John K. Heath, Jones, Kawano, Klein, Kuro-o, Lee M. Wheldon, Lewis, Maquat, McKeehan, Mendell, Meyers, Miki, Mohammad K. Hajihosseini, Muhlemann, Naila Khodabukus, Naski, Nelson, Oldridge, Peters, Polanska, Ricol, Saito, Sekine, Slaney, Smith, Susannah J. Patey, Takaishi, Tanimoto, Terada, Terence G. Smith, Tsang, Tsukuno, Werner, Wheldon, Wilkie, Yamaguchi, Zhang   +57 more
core   +3 more sources

Fgf receptor 3 activation promotes selective growth and expansion of occipitotemporal cortex

Neural Development, 2009
Background Fibroblast growth factors (Fgfs) are important regulators of cerebral cortex development. Fgf2, Fgf8 and Fgf17 promote growth and specification of rostromedial (frontoparietal) cortical areas.
Marques Catia S, Fernandes Ana C, Kennedy John, Etherson Michelle L, Graham Nicholas A, Kind Peter C, Thomson Rachel E, Hevner Robert F, Iwata Tomoko   +8 more
doaj   +1 more source

Human COL2A1-directed SV40 T antigen expression in transgenic and chimeric mice results in abnormal skeletal development [PDF]

, 1995
The ability of SV40 T antigen to cause abnormalities in cartilage development in transgenic mice and chimeras has been tested. The cis- regulatory elements of the COL2A1 gene were used to target expression of SV40 T antigen to differentiating ...
Cheah, KSE, Chi Leung So, Kuffner, T, Leung, KKH, Levy, A, LovellBadge, RH, Tam, PPL, Trainor, PA, Wai, AWK   +8 more
core   +1 more source

A 6-year Experience of Fetal Skeletal Anomalies Prenatal Diagnosis at Anomaly Clinic, Siriraj Hospital

Siriraj Medical Journal, 2006
Objective: The purposes of this study were to review the prevalence of skeletal dysplasias among fetal anomaly cases and to demonstrate common findings detected prenatally by ultrasonography. Methods: Twenty prenatal cases diagnosed of skeletal anomalies
Kusol Russameecharoen, Buraya Phattanachindakun, Siripong Swasdimongkol, Chanchai Vantanasiri, Sommai Viboonchard   +4 more
doaj  

C-type natriuretic peptide analog treatment of craniosynostosis in a Crouzon syndrome mouse model.

PLoS ONE, 2018
Activating mutations of fibroblast growth factor receptors (FGFRs) are a major cause of skeletal dysplasias, and thus they are potential targets for pharmaceutical intervention. BMN 111, a C-type natriuretic peptide analog, inhibits FGFR signaling at the
Greg Holmes, Lening Zhang, Joshua Rivera, Ryan Murphy, Claudia Assouline, Lorraine Sullivan, Todd Oppeneer, Ethylin Wang Jabs   +7 more
doaj   +1 more source

Thanatophoric dysplasia Type 1: A rare case of recurrence [PDF]

, 2015
Thanatophoric dysplasia (TD) is the most common form of lethal dysplasias. The prevalence is low 1/20000-1/40000. Newborns with TD died within the neonatal period. Early diagnosis is of prime importance to terminate the pregnancy in time.
Ghanghoriya, Pawan, Ghanghoriya, Vineeta, Pahariya, Richa, Singh, Kavita N   +3 more
core   +1 more source

Fetal Mesenchymal Stromal Cells: an Opportunity for Prenatal Cellular Therapy [PDF]

, 2018
PURPOSE OF REVIEW: The aim of the study is to provide an overview on the possibility of treating congenital disorders prenatally with mesenchymal stromal cells (MSCs). RECENT FINDINGS: MSCs have multilineage potential and a low immunogenic profile and
David, AL, Götherström, C, Sagar, R, Walther-Jallow, L, Westgren, M   +4 more
core   +2 more sources

Identification of the molecular basis of the lacrimo-auriculo-dento-digital (LADD) syndrome [PDF]

, 2008
Lacrimo-auriculo-dento-digital (LADD) syndrome, also known as Levy-Hollister syndrome, is a rare autosomal dominant developmental disorder, mainly characterized by abnormalities of the lacrimal system and salivary glands, ears and hearing, teeth and ...
Rohmann, Edyta
core  

VP13.20: A case report on thanatophoric dysplasia [PDF]

, 2020
Carlota Menéndez Plans, N C Liew, Craig A. McKeown, N. Shahrom, A. Mantas, Mendinaro Imcha   +5 more
openalex   +1 more source