Results 131 to 140 of about 318,763 (302)
Spinal Involvement in Charge Syndrome: Implications for Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes +5 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto +5 more
wiley +1 more source
Scientific ReportsGastric feelings are often studied using invasive stimulations changing the stomach state and overlooking how context and personality traits shape these sensations.
Rudy Jeanne +5 more
doaj +1 more source
Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale +2 more
wiley +1 more source
Angewandte Chemie, EarlyView.A series of Ir(III) complexes (Ir‐1‐Ir‐4) based on imidazole derivatives provide a new afterglow luminescence mechanism. The work expands the range of afterglow luminescence frameworks to overcome: (i) a lack of new afterglow scaffolds; (ii) the dependence on initial external light activation; and (iii) aggregation‐caused quenching.
Zihan Wu +9 more
wiley +2 more sources
Social cognition, psychosocial development and well-being in galactosemia
Orphanet Journal of Rare DiseasesBackground Classic galactosemia is a rare inherited metabolic disease with long-term complications, particularly in the psychosocial domain. Patients report a lower quality of social life, difficulties in interactions and social relationships, and a ...
Clémentine Bry +3 more
doaj +1 more source
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source
The posterior superior temporal sulcus (pSTS) processes information from the eyes and the mouth that support social perception. To investigate the laterality of how these mechanisms function, we performed three experiments on lip and eye-gaze ...
E Jefferies (9938024) +7 more
core +4 more sources
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
wiley +1 more source