Results 21 to 30 of about 500 (134)

Addressing the tissue specificity of U5 snRNP spliceosomopathies. [PDF]

Front Cell Dev Biol
Precursor mRNA (pre-mRNA) must undergo splicing to remove intron sequences and join exons. This splicing process is catalysed by an RNA/protein complex called the spliceosome.
Kemal RA, O'Keefe RT.
europepmc   +3 more sources

Choanal atresia: A review of surgical outcomes in a tertiary medical center. [PDF]

World J Otorhinolaryngol Head Neck Surg
Abstract Introduction Choanal atresia (CA) is a congenital narrowing or obliteration of the posterior nasal aperture. The condition is rare with an incidence of approximately 1 in 5000 to 9000 live births. Objective The aim of this work was to assess the results of treating this condition at the Otolaryngology Department in Oslo University Hospital ...
Dheyauldeen S, Heimdal K, Osnes T, Akre H, Olsson L.   +4 more
europepmc   +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

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

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

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies: expanding the phenotypes associated with EFTUD2 mutations [PDF]

, 2013
Background: Mutations in EFTUD2 were proven to cause a very distinct mandibulofacial dysostosis type Guion-Almeida (MFDGA, OMIM #610536). Recently, gross deletions and mutations in EFTUD2 were determined to cause syndromic esophageal atresia (EA), as ...
Albrecht, Beate, Brunner, Han G, Callewaert, Bert, Czeschik, Johanna Christina, Falkenberg Smeland, Marie, Frostad Riise Stensland, Hilde Monica, Hehr, Andreas, Hehr, Ute, Kuechler, Alma, König, Rainer, Lüdecke, Hermann-Josef, Marcelis, Carlo, Martin, Marcel, Mégarbane, André, Neveling, Kornelia, Puiu, Maria, Rahmann, Sven, Reardon, Willie, Schweiger, Bernd, Steehouwer, Marloes, Teller, Christopher, Voigt, Claudia, von Deimling, Florian, Wieczorek, Dagmar   +23 more
core   +5 more sources

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

Congenital malformations [PDF]

, 2012
Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. Their global birth prevalence is about 2–3%.
CORSELLO, Giovanni, GIUFFRE, Mario
core   +1 more source

De novo variants in neurodevelopmental disorders—experiences from a tertiary care center

Clinical Genetics, Volume 100, Issue 1, Page 14-28, July 2021., 2021
Abstract Up to 40% of neurodevelopmental disorders (NDDs) such as intellectual disability, developmental delay, autism spectrum disorder, and developmental motor abnormalities have a documented underlying monogenic defect, primarily due to de novo variants.
Theresa Brunet, Robert Jech, Melanie Brugger, Reka Kovacs, Bader Alhaddad, Gloria Leszinski, Korbinian M. Riedhammer, Dominik S. Westphal, Isabella Mahle, Katharina Mayerhanser, Matej Skorvanek, Sandrina Weber, Elisabeth Graf, Riccardo Berutti, Ján Necpál, Petra Havránková, Petra Pavelekova, Maja Hempel, Urania Kotzaeridou, Georg F. Hoffmann, Steffen Leiz, Christine Makowski, Timo Roser, Sebastian A. Schroeder, Robert Steinfeld, Gertrud Strobl‐Wildemann, Julia Hoefele, Ingo Borggraefe, Felix Distelmaier, Tim M. Strom, Juliane Winkelmann, Thomas Meitinger, Michael Zech, Matias Wagner   +33 more
wiley   +1 more source