Results 101 to 110 of about 436,684 (219)

Attachment and Emotion Regulation in Adolescents with FAS-Dysmorphism

, 2022
Children with fetal alcohol spectrum disorders (FASD) are frequently reported by caregivers and teachers to have difficulties in socio-emotional functioning.
Kemp, Andrea
core  

The R203W substitution drives PACS‐1 syndrome by disrupting intramolecular regulation

The FEBS Journal, EarlyView.
The middle region (MR) of PACS‐1 controls engagement with specific partner proteins. This manuscript presents the structure of the Furin binding region (FBR) and how interactions with partners are regulated through the interplay between a basic patch in the FBR and an acidic cluster in the MR.
Troy C. Krzysiak, In‐Ja L. Byeon, Ryan Ponticelli, Mary E. Lucas, Lariah Thompson, Christopher DeHaven, Gary Thomas, Angela M. Gronenborn   +7 more
wiley   +1 more source

Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis

, 2007
Congenital cataracts-facial dysmorphism-neuropathy syndrome (CCFDN, MIM: 604168), is a recently delineated neurogenetic disease causing recurrent episodes of rhabdomyolysis; prevention and early diagnosis of rhabdomyolysis should be part of the clinical ...
Katsarou, Efstathia, Mastroyianni, Sotiria D., Voudris, Gooding, Rebecca, Skardoutsou, Angeliki, Stefanidis, Constantinos J., Konstantinos, Garoufi, Anastasia, Kalaydjieva, Luba   +8 more
core  

Epileptic encephalopathy with spike‐and‐wave activation in sleep associated with Tatton–Brown–Rahman syndrome responsive to highly purified cannabidiol

Epileptic Disorders, EarlyView.
Anita N. Datta
wiley   +1 more source

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development

Journal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.
Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah, Anna Wilsdon, Aseel Abbad, Sophie Rochette, Frances Bu'Lock, Asma Ali Saed, Marc‐Phillip Hitz, J. David Brook, Siobhan Loughna   +8 more
wiley   +1 more source

Evaluation of a Facial Dysmorphology Analysis Algorithm (Face2Gene) in Identifying Treacher Collins Syndrome Amongst Diverse Population

Orthodontics &Craniofacial Research, EarlyView.
ABSTRACT Background Treacher Collins Syndrome (TCS) is an uncommon congenital disease of the craniofacial complex. While there are ‘classic’ facial manifestations of TCS, they present with a wide range of variability. Face2Gene (F2G) is a deep‐learning algorithm that can provide differential diagnoses of syndromes via analysis of 2‐dimensional facial ...
Jie Han Timothy Sng, Jonas Jun Jie Hue, Josep Rubio‐Palau   +2 more
wiley   +1 more source

Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype

Movement Disorders Clinical Practice, EarlyView.
Lisa Buikema, Matej Lokar, Saman Vinke, Borut Peterlin, Gaber Bergant, Dejan Georgiev   +5 more
wiley   +1 more source

Cutis Tricolor‐Like Pigmentary Mosaicism in Mowat–Wilson Syndrome: Phenotypic Overlap With Ruggieri–Happle Syndrome

Pediatric Dermatology, EarlyView.
ABSTRACT Cutis tricolor (CT) is a rare pigmentary mosaicism characterized by the coexistence of hyperpigmented and hypopigmented areas on a background of normal skin; its syndromic form, Ruggieri–Happle syndrome (RHS), is associated with neurodevelopmental delay, facial dysmorphism, skeletal abnormalities, and other systemic defects.
Didier Bessis, Pierre Meyer, Marjolaine Willems   +2 more
wiley   +1 more source

Facial dysmorphism – More than what meets the eyes

Indian Journal of Ophthalmology. Case Reports, 2021
Aditi Mehta, Simar R Singh, Ramandeep S Virk   +2 more
doaj   +1 more source

Gingival fibromatosis, short stature, border-line IQ, facial dysmorphism and hepatomegaly

, 2005
Gingival fibromatosis, short stature, border-line IQ. facial dysmorphism and hepatomegaly. Gingival fibromatosis is a rare and benign disorder. The enlarged gingivae are firm and may Interfere with speech, closure of the lips, and mastication.
Percin, EF, Ergur, AT, Marakoglu, I, Onarlioglu, B, Gursoy, UK   +4 more
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