Results 231 to 240 of about 31,523 (289)

Application of Mobile 3D C‐Arm Technology for Diagnostic Imaging of Cleft Palate in an Adult Rhesus Macaque (Macaca mulatta)

Journal of Medical Primatology, Volume 55, Issue 4, August 2026.
ABSTRACT This case represents the first reported use of Siemens Cios Spin mobile 3D C‐arm system for diagnostic imaging for a congenital cleft palate in an adult rhesus macaque (Macaca mulatta). This technology provided a versatile, rapid, and on‐site imaging modality with diagnostic value for craniofacial assessment that may also be applicable to ...
Merel Wegman, Julia van der Bie, Annemiek Maaskant, Jan A. M. Langermans, Sergi Sunyé Casas, Marieke A. Stammes, Jaco Bakker   +6 more
wiley   +1 more source

Cross‐Linguistic Variations in Word‐Final Position: The Parametric Hierarchies, Connections and Networks

Studia Linguistica, Volume 80, Issue 2, August 2026.
ABSTRACT Word‐final position is widely recognized as a structurally weak and restricted domain, yet languages differ strikingly in how they regulate segments and clusters at the right edge. While some systems categorically prohibit final consonants, others allow only a subset of segments, and still others impose process‐based adjustments such as final ...
Semra Baturay Meral
wiley   +1 more source

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1465-1478, July 2026.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

CACNA1S mutation-associated dental anomalies: A calcium channelopathy. [PDF]

Oral Dis
Kantaputra P, Butali A, Eliason S, Chalkley C, Nakornchai S, Bongkochwilawan C, Kawasaki K, Kumchiang A, Ngamphiw C, Tongsima S, Ketudat Cairns JR, Olsen B, Intachai W, Ohazama A, Tucker AS, Amendt BA.   +15 more
europepmc   +1 more source

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1491-1497, July 2026.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, Volume 110, Issue 1, Page 125-130, July 2026.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source

Case report: Initial atypical skeletal symptoms and dental anomalies as first signs of Gardner syndrome: the importance of genetic analysis in the early diagnosis. [PDF]

Pathol Oncol Res
Antal G, Zsigmond A, Till Á, Orsi E, Szanto I, Büki G, Kereskai L, Herbert Z, Hadzsiev K, Bene J.   +9 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

Hospital admissions and school absences of primary school children with and without neurodisability

Developmental Medicine &Child Neurology, Volume 68, Issue 7, Page 938-951, July 2026.
Abstract Aim To inform integrated support by education and health services by comparing hospitalization and school absence rates during primary school in children with and without neurodisability. Method In this linked administrative data cohort study, we followed 2 351 589 children born in England between 2003 and 2008 from enrolment in Reception ...
Laura Gimeno, Ania Zylbersztejn, Ayana Cant, Ruth Gilbert, Katie Harron, on behalf of the HOPE Study Group, Sarah Barnes, Kate Boddy, Kristine Black‐Hawkins, Lorraine Dearden, Bianca De Stavola, Johnny Downs, William Farr, Tamsin Ford, Lucy Karwatowska, Kate Lewis, Matthew Lilliman, Jacob Matthews, Stuart Logan, Vincent Nguyen, Jugnoo Rahi, Jennifer Saxton, Joachim Tan, Isaac Winterburn   +23 more
wiley   +1 more source

Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients. [PDF]

Heliyon
Nawaz H, Parveen A, Khan SA, Zalan AK, Khan MA, Muhammad N, Hassib NF, Mostafa MI, Elhossini RM, Roshdy NN, Ullah A, Arif A, Khan S, Ammerpohl O, Wasif N.   +14 more
europepmc   +1 more source