Results 21 to 30 of about 64,652,082 (128)

Mandibulofacial dysostosis-microcephaly syndrome [PDF]

, 2020
openaire   +2 more sources

First-trimester detection of micrognathia as a presentation of mandibulofacial dysostosis with microcephaly

Journal of Obstetrics and Gynaecology, 2020
Mandibulofacial dysostosis with microcephaly (MFDM) is a genetic syndrome comprising microcephaly, first and second branchial arch anomalies, hearing loss, dysmorphic features, systemic malformatio...
Bi-Qiu, Xu, Li, Zhen, Dong-Zhi, Li
openaire   +2 more sources

Nosology of genetic skeletal disorders: 2023 revision

American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1164-1209, May 2023., 2023
Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology.
Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier‐Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga   +20 more
wiley   +1 more source

History and highlights of the teratological collection in the Narrenturm, Vienna (Austria)

American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1301-1324, May 2023., 2023
Abstract The collection of the Narrenturm in Vienna houses and maintains more than 50,000 objects including approximately 1200 teratological specimens; making it one of the biggest collections of specimens from human origin in Europe. The existence of this magnificent collection―representing an important resource for dysmorphology research, mostly ...
Lucas L. Boer, Susanne Gerit Kircher, Helga Rehder, Jana Behunova, Eduard Winter, Helmut Ringl, Anke Scharrer, Elke de Boer, Roelof‐Jan Oostra   +8 more
wiley   +1 more source

Treacher Collins syndrome: A case report and review of literature

Clinical Case Reports, Volume 10, Issue 12, December 2022., 2022
Abstract Treacher Collins syndrome (TCS) is one of the rare genetic syndromes which is specified by symmetrical craniofacial dysmorphism without growth abnormalities or neurological disorders. The inheritance is usually autosomal dominant but sometimes it is a sporadic mutation.
Nadia Kolsi, Fatma Boudaya, Afef Ben Thabet, Manel Charfi, Chiraz Regaieg, Amira Bouraoui, Ridha Regaieg, Nedia Hentati, Amel Ben Hamed, Abdellatif Gargouri   +9 more
wiley   +1 more source

Mouse models of patent ductus arteriosus (PDA) and their relevance for human PDA

Developmental Dynamics, Volume 251, Issue 3, Page 424-443, March 2022., 2022
Key Findings Mouse models of patent ductus arteriosus (PDA) are informative for human PDA. Human single‐gene disorders with a PDA phenotype reveal interacting networks that contribute to regulation of DA patency and closure. Cross‐species correlations identify pathways of interest for development of PDA therapeutics. Abstract The ductus arteriosus (DA)
Michael T. Yarboro, Srirupa H. Gopal, Rachel L. Su, Thomas M. Morgan, Jeff Reese   +4 more
wiley   +1 more source

Mandibulofacial dysostosis [PDF]

, 2012
CITATION: Els, H. & Scheepers, S. 2012. Mandibulofacial dysostosis. SA Journal of Radiology, 16(1)24, doi:10.4102/sajr.v16i1.230.The original publication is available at http://www.sajr.org.zaTwo cases of mandibulofacial dystostosis are presented in ...
Els, Hein, Hein Els, Shaun Scheepers, Scheepers, Shaun   +3 more
core   +1 more source

Phenotypic and molecular heterogeneity in mandibulofacial dysostoses : a case series from India

, 2022
Objective Facial dysostosis is a group of rare craniofacial congenital disabilities requiring multidisciplinary long-term care. This report presents the phenotypic and genotypic information from South India. Design The study is a case series.
Shenoy, Rathika D., Menten, BjörnGE31UZGent0019961997768010017113010000-0001-8182-659XF6A4B240-F0ED-11E1-A9DE-61C894A0A6B4, Chakraborty, Anirban, Dheedene, AnneliesUZGent0020022785458020001991879725154900840009-0006-8210-3944F8FBA0DA-F0ED-11E1-A9DE-61C894A0A6B4, Callewaert, BertGE31UZGent0019970956148010018784230000-0002-9743-4205F7333600-F0ED-11E1-A9DE-61C894A0A6B4, Sips, PatrickGE310019960554888010014998200000-0001-9241-59806F1A17A2-B25E-11E6-B104-2D2FD0AF0289, Shetty, Vikram, Chakraborty, Gunimala, De Paepe, AnneGE31UZGent8010004612130000-0002-4134-5940F403A000-F0ED-11E1-A9DE-61C894A0A6B4, Pandyanda Nanjappa, Dechamma   +9 more
core   +2 more sources

EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway

Human Genomics, 2019
Background Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia, and short stature.
Jing Wu, Yi Yang, You He, Qiang Li, Xu Wang, Chengjun Sun, Lishun Wang, Yu An, Feihong Luo   +8 more
doaj   +1 more source

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction [PDF]

, 2015
We report three individuals with a cranioskeletal malformation syndrome that we define as acrofacial dysostosis, Cincinnati type. Each individual has a heterozygous mutation in POLR1A, which encodes a core component of RNA polymerase 1.
König, Rainer, Sund, Kristen L., Lohmann, Dietmar R., Wieczorek, Dagmar, Hehr, Ute, Hopkin, Robert J., Bender, Patricia L., Hufnagel, Robert B., Navajas Acedo, Joaquin, Lourenco, Charles M., Saal, Howard M., Trainor, Paul A., Watt, Kristin E. Noack, Weaver, K. Nicole, Linscott, Luke L.   +14 more
core   +1 more source