Results 41 to 50 of about 19,360 (251)

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

REHABILITASI PASIEN GIGI TIRUAN PENUH DENGAN EKTODERMAL DYSPLASIA (LAPORAN KASUS)

Journal of Dentistry Indonesia, 2015
Ectodermal dysplasia is a rare congenital disease that affects several ectodermal structures. This disease is usually transmitted as an x-linked recessive trait in which the gene is carried by female and manifested in male.
Susi R. Puspita Dewi
doaj   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of "Incomplete syndrome"

Contemporary Clinical Dentistry, 2012
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature.
P K Shivaprakash, Hrishikesh V Joshi, Hina Noorani, Venugopal Reddy   +3 more
doaj   +1 more source

Removable Partial Dentures vs Overdentures in Children with Ectodermal Dysplasia: Two Case Reports [PDF]

, 2016
Ectodermal dysplasia (ED) represents a disorder group characterised by abnormal development of the ectodermal derivatives. Removable partial dentures (RPD), complete dentures (CD) or overdentures (OD) are most often the treatment of choice for young ...
Angelopoulou, Matina V., Artopoulou, Ioli I., Emmanouil, Dimitris, Maroulakos, Georgios   +3 more
core   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

A review of implant provision for hypodontia patients within a Scottish referral centre [PDF]

, 2017
Background: Implant treatment to replace congenitally missing teeth often involves multidisciplinary input in a secondary care environment. High quality patient care requires an in-depth knowledge of treatment requirements.
A Dasmah, AK Yap, B Thilander, B. Burns, CE Misch, DA Buser, E Nyström, F Raes, F Schwarz, GO Gallucci, J Cosyn, J Derks, L Anweigi, L. Savarrio, M Dierens, M Hof, NE Epstein, R Fürhauser, S Todescan, T Berglundh, V. Bissell, V. Grieg   +21 more
core   +1 more source

Meflin/ISLR is a meningeal cell‐specific marker involved in the development of meninges and meningioma progression

Brain Pathology, EarlyView.
Mesenchymal stromal cell‐and fibroblast‐expressing Linx paralogue (Meflin) is expressed in embryonic meninges and contributes to meningeal homeostasis. In meningiomas, elevated Meflin correlates with higher grade and recurrence. Single‐cell RNA sequencing revealed a Meflin‐high tumor cell subset marked by reduced proliferation, WNT6 expression, and ...
Yukihiro Shiraki, Tomotsugu Kurauchi, Akitoshi Hara, Nobutoshi Esaki, Shinji Mii, Ryota Ando, Akihiro Sakai, Kuniaki Tanahashi, Fumiharu Ohka, Ryuta Saito, Atsushi Natsume, Yuki Hattori, Takaki Miyata, Atsushi Enomoto   +13 more
wiley   +1 more source

A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report

Molecular Genetics and Metabolism Reports, 2021
Hereditary ectodermal dysplasias are a complex group of inherited disorders characterised by abnormalities in two or more ectodermal derivatives (skin, nails, sweat glands, etc.).
Baiba Alksere, Liene Kornejeva, Ieva Grinfelde, Aigars Dzalbs, Dace Enkure, Una Conka, Santa Andersone, Arita Blumberga, Liene Nikitina-Zake, Liga Kangare, Ilze Radovica-Spalvina, Inta Vasiljeva, Linda Gailite, Juris Erenpreiss, Violeta Fodina   +14 more
doaj   +1 more source