Results 141 to 150 of about 1,619,726 (301)

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, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Clinical and Molecular Characterization of 46 Patients With Beckwith–Wiedemann Spectrum and Uniparental Disomy of 11p15

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas, Peter Lauffer, Niels Vos, Paola Lombardi, Marcel M. A. M. Mannens, Youp Zegers, Laura J. C. M. van Zutven, Aeilko H. S. Zwinderman, Mieke M. van Haelst, Jet Bliek   +9 more
wiley   +1 more source

Shared Origin of Y and Z Chromosomes in the Turnover of XY and ZW Systems in the Frog Glandirana rugosa

Biomolecules
The Japanese frog Glandirana rugosa, endemic to Japan, exhibits both XY and ZW sex determination systems in different populations, representing a rare example of sex chromosome turnover within a single species.
Yukako Katsura, Divya Shaji, Kazumi Matsubara, Rei Kajitani, Tariq Ezaz, Ikuo Miura   +5 more
doaj   +1 more source

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik, Davut Pehlivan, Cary Fu, Antonio F. Martinez‐Monseny, Mar O'Callaghan, Judith Armstrong, Sarika U. Peters, Steven T. Lee, Timothy J. Feyma, Paola Mian, Christine Coquery   +10 more
wiley   +1 more source

A Precision‐Delivered Singlet Oxygen Generator With an Inbuilt Safety Switch for Induction of Pancreatic Beta Cell Stress and Death

Angewandte Chemie, EarlyView.
ROXendin668 is a peptidic GLP‐1 receptor agonist that generates toxic singlet oxygen upon irradiation with far‐red light. Pancreatic beta cells can be photo‐ablated in a spatiotemporally controlled manner. This approach has the potential to provide a safer alternative to streptozotocin or alloxan for creating model systems for type 1 diabetes research.
Kilian Roßmann, Owen Bendor‐Samuel, Christopher Carlein, Kaja Rupar, Leticia Prates Roma, Ramona Birke, Tolga Soykan, Ingo Breng, Andreas Oder, Iona Davies, Ben Jones, Alice Adriaenssens, Michelle M. Martinez Irizarry, Rachael Morara, Martin Lehmann, Amelia K. Linnemann, David J. Hodson, Johannes Broichhagen   +17 more
wiley   +2 more sources

Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha, Leticia Dinatto, Kirsten Meagher, Colleen Guimond, Jan M. Friedman, Peter C. Stirling, Millan S. Patel   +6 more
wiley   +1 more source

Influence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).
Ranim Mahmoud, Merlin G. Butler, Wai Park, Jennifer L. Miller, Daniel J. Driscoll, June‐Anne Gold, Virginia Kimonis   +6 more
wiley   +1 more source

Comparative cytogenetic study in Muscidae flies

Brazilian Journal of Biology
The chromosome modal number in Muscoidea Diptera is 2n = 12, including five pairs of autosomes and one sex chromosome pair. Nevertheless, some species with 2n = 10 chromosomes have been described, all of them from the Muscidae family.
PP. Parise-Maltempi, RMP. Avancini
doaj   +1 more source

Sequence of the chicken sex chromosomes [PDF]

, 2010
Thesis (Ph. D.)--Massachusetts Institute of Technology, Dept. of Biology, 2010.Cataloged from PDF version of thesis.Includes bibliographical references.In birds, as in mammals, the chromosome complement determines sex.
Bellott, Daniel Winston
core  

Exploring Genetic and Biological Interconnections Between Neuroticism, Psychological Distress, Insomnia, and C‐Reactive Protein: Insights From the UK Biobank

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Psychobehavioral and physical health traits often co‐occur. Although previous studies have identified associations between neuroticism, psychological distress, insomnia, and inflammatory biomarkers such as C‐reactive protein (CRP), it remains unclear whether there is a genetic basis to these associations, and which biological pathways are ...
Lydia M Li, Nina Adler, Cristina L. Abbatangelo, Mark Wade, Esteban J. Parra   +4 more
wiley   +1 more source