Results 71 to 80 of about 60,147,798 (196)

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for ANKRD11 Missense Variants

Clinical Genetics, Volume 109, Issue 6, Page 1038-1048, June 2026.
PhenoScore, an AI framework integrating facial recognition and clinical phenotype data, accurately identifies pathogenic ANKRD11 missense variants associated with KBG syndrome (AUC 0.95). Validated against functional data, PhenoScore outperforms REVEL and complements AlphaMissense, providing objective phenotypic evidence to reduce variants of uncertain
Evi Andriessen, Elke de Boer, Gholson J. Lyon, Bert B. A. de Vries, Charlotte W. Ockeloen, Alexander J. M. Dingemans   +5 more
wiley   +1 more source

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

Journal of Intellectual Disability Research, Volume 70, Issue 6, Page 608-652, June 2026.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld, Louise Cox, Petri J. C. M. Embregts, Alistair R. Niemeijer, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen   +6 more
wiley   +1 more source

Diagnosis and surgical treatment of intestinal malrotation in a patient with Cornelia de Lange syndrome [PDF]

, 2016
Prikazujemo žensko dojenče s fenotipskim karakteristikama sindroma Cornelia de Lange kod kojeg je dokazana i uspješno kirurški liječena pridružena malrotacija crijeva.
Sršen Medančić, Suzana, Frković, Marijan, Huljev Frković, Sanda, Begović, Davor, Vidaković, Marija, Barbarić Babić, Vinka   +5 more
core   +1 more source

Aesthetic and functional management of a patient with Cornelia de Lange syndrome

Contemporary Clinical Dentistry, 2012
Cornelia de Lange syndrome is a syndrome of multiple congenital anomalies. The genetic and molecular bases of these lesions are not clear. It is divided into three types based on the severity of the anomaly.
Dexton Antony Johns, Dnyanesh L Bhonsale, V Y Shivashanker, Manu Johns   +3 more
doaj   +1 more source

Dental Findings in Cornelia De Lange Syndrome

, 2009
Cornelia de Lange syndrome is a congenital disease, basically characterized by psychomotor retardation associated with a series of malformations, including mainly skeletal, craniofacial deformities together with gastrointestinal and cardiac malformations.
Yeler, Hasan, Ay, Sinan, Sezgin, Ilhan, Toker, Aslihan Soyal   +3 more
core   +1 more source

Disfagia orofaríngea em crianças com síndrome Cornélia de Lange Oropharyngeal dysphagia in children with Cornelia de Lange syndrome

Revista CEFAC, 2010
OBJETIVO: descrever os achados das fases oral e faríngea da deglutição, bem como os aspectos sensório-motores orofaciais relevantes em crianças com a síndrome Cornélia de Lange. MÉTODOS: trata-se de relato de caso, retrospectivo.
Priscila Martins Foroni, Anne Marques Beato, Liciane Pinelli Valarelli, Luciana Vitaliano Voi Trawitzki   +3 more
doaj  

Eurocentric Bias in Dysmorphology and Medical Genetics Education

American Journal of Medical Genetics Part A, Volume 200, Issue 6, June 2026.
D' Arcy B. Prendergast, Emma Sullivan, Michael P. Mackley, Hanna Faghfoury   +3 more
wiley   +1 more source

COILS Predictions for SMC1/3 Mutations in Cornelia de Lange Syndrome.

, 2013
COILS Predictions for SMC1/3 Mutations in Cornelia de Lange Syndrome.
Glenn E. White (374120), Harold P. Erickson (370200)   +1 more
core   +1 more source

Otolaryngological presentations of Cornelia de Lange syndrome

, 2014
Aim Children with Cornelia de Lange syndrome frequently present to otolaryngology services with hearing problems. Airway problems have not previously been reported.
Clement, W. Andrew, Kubba, Haytham, Hamilton, Jane   +2 more
core   +1 more source

Cornelia de Lange syndrome – a rarely seen disorder

South African Journal of Obstetrics and Gynaecology, 2015
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder of unknown causation, associated with multiple congenital anomalies. Prenatal genetic diagnosis is possible, and the syndrome can occur in subsequent pregnancies of families with affected ...
Yasemin Çekmez, Nilay PiÅŸinpaÅŸa, Tülay Tos   +2 more
doaj   +1 more source