Results 221 to 230 of about 34,364 (292)

Clinical Challenges in Transition to Adult Care for Young People With Endocrinopathies

Clinical Endocrinology, Volume 105, Issue 1, Page 14-21, July 2026.
ABSTRACT The complexity of transition of pediatric patients to adult care is well recognized, with a multidisciplinary approach widely agreed to be essential. Despite extensive existing literature in this area, practical guidance as to the management of specific medical aspects and how to address these with patients and families is lacking, with little
Margaret Zacharin, Quynh‐Nhu Nguyen
wiley   +1 more source

Loss of the DCHS1 Intracellular Domain Expands Neurogenic Proliferation and Generates Van Maldergem-like Neurodevelopmental Defects. [PDF]

Cells
Byerly K, Wolfe C, Brei M, Parris H, Fisher S, Alston A, Dong H, Chen P, Yao H, Tang F, Guz J, Dooley S, Nelson T, Loizzi B, Phookan R, Gensemer C, Patel S, Norris RA.   +17 more
europepmc   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, Volume 110, Issue 1, Page 64-72, July 2026.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

CSF1R+ macrophage and osteoclast depletion impairs neural crest proliferation and craniofacial morphogenesis. [PDF]

Development
Ma F, Zhou RRJ, Rosin M, Zhou I, Ownsworth S, Memar RO, Wong VB, Rosin JM.   +7 more
europepmc   +1 more source

Molecular Basis and Clinical Spectrum of WNT10A‐Related Oligodontia

Clinical Genetics, Volume 110, Issue 1, Page 3-14, July 2026.
Cellular Mechanism behind WNT10A phenotypes. ABSTRACT WNT10A mutations, a major genetic determinant of dental agenesis and ectodermal dysplasia, exert profound effects on craniofacial development. Although classified as rare disorders, these mutations account for more than half of oligodontia cases, reflecting their critical role.
Perennes Elise, Benkirane‐Jessel Nadia, Anton Nicolas, Vandamme Thierry, Clauss François, Conzatti Guillaume   +5 more
wiley   +1 more source

Mapping the murine TMJ glenoid fossa over development, homeostasis and in response to disease

Journal of Anatomy, Volume 249, Issue 1, Page 85-96, July 2026.
The fibrocartilage of the murine glenoid fossa and condyle of the temporomandibular joint are shown to form at distinct times with distinct molecular identities. Changes in the condyle during disease lead to remodelling of the fossa to maintain joint alignment.
Ticha Tuwatnawanit, Denisa Belisova, Zuzana Sumbalova Koledova, Neal Anthwal, Abigail S. Tucker   +4 more
wiley   +1 more source

Bauru International Craniofacial Symposium: Comprehensive Care, Policy and Advocacy Proceedings. [PDF]

BMC Proc
europepmc   +1 more source

Early cleft lip repair in an infant with cleft lip-palate and ipsilateral microtia identified through a community outreach program. [PDF]

J Surg Case Rep
Budi AS, Pranindita KA.
europepmc   +1 more source

Retinoic Acid Informs the Positional Identity of Frontonasal Neural Crest Cells Through Alx Family of Transcription Factors

The FASEB Journal, Volume 40, Issue 12, 30 June 2026.
Retinoic acid (RA) regulates the positional identity of cranial neural crest cells (CNCCs) through the transcription factors Alx1 and Alx4. Upon receiving RA from the local environment, liganded RAR/RXR heterodimers activate the expression of Alx1 and Alx4, which promote the frontonasal identity of CNCCs and inhibit the first pharyngeal arch identity ...
Shuxuan Wu, Yifan Lu, Yixin Tu, Yuke Xi, Qianxue Wan, Minghui Yue, Huan Liu, Zhaoming Wu   +7 more
wiley   +1 more source

Genome sequencing-based CNV analysis in an infant with concurrent partial trisomies 9p and 12p due to maternal translocation: A case report. [PDF]

Medicine (Baltimore)
Azher Z, Alsabban M, Ali LA, Naffadi H, Ekram S, Obaid R.   +5 more
europepmc   +1 more source