| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Ying Pang, Lan Zeng, Hua Liang, Chunlan Cheng, Lihui Shan, Jin Wang, Nanjing Jiang, Guanghuan Pi, Li Yang, Ai Chen, Fu Xiong, Shuyao Zh. Proximal 4p Deletion Syndrome in an Infant With Multiple Systemic Anomalies. Molecular genetics & genomic medicine. vol 12. issue 9. 2024-09-03. PMID:39225318. |
contiguous gene deletion in the short arm of chromosome 4 is linked to various neurodevelopmental disorders. |
2024-09-03 |
2024-09-05 |
Not clear |
| Cristina Bel-Fenellós, Chantal Biencinto-López, Belén Sáenz-Rico, Adolfo Hernández, Ana Karen Sandoval-Talamantes, Jair Tenorio-Castaño, Pablo Lapunzina, Julián Nevad. Cognitive-Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype-Phenotype Correlationships. Genes. vol 14. issue 8. 2023-08-26. PMID:37628679. |
(1) background: 5p minus syndrome (s5p-) is a neurodevelopmental disorder caused by a deletion in the short arm of chromosome 5. |
2023-08-26 |
2023-09-07 |
human |
| Jessica Kang, Chien-Nan Lee, Yi-Ning Su, Yi-Yun Tai, Chih-Ling Chen, Han-Ying Chen, Shin-Yu Li. Clinical outcomes of fetuses with chromosome 16 short arm copy number variants. Molecular genetics & genomic medicine. 2023-04-04. PMID:37013606. |
the short arm of chromosome 16 consists of several copy number variants (cnvs) that are crucial in neurodevelopmental disorders; however, incomplete penetrance and diverse phenotypes after birth aggravate the difficulty of prenatal genetic counseling. |
2023-04-04 |
2023-08-14 |
Not clear |
| Yuichiro Miyake, Suyin A Lum Min, Atsuyuki Yamataka, Richard Keijze. Educational and mental health outcomes in school-aged children with anorectal malformations: A case-control cohort study. Journal of pediatric surgery. 2023-02-22. PMID:36805139. |
the purpose of this study was to assess real-world educational outcomes, neurodevelopmental disorders and mental health disorders in arm patients and compare to an age-matched control group. |
2023-02-22 |
2023-08-14 |
Not clear |
| Justyn Hyde, Ami Eidels, Therese van Amelsvoort, Inez Myin-Germeys, Linda Campbel. Gene Deletion and Sleep Depletion: Exploring the Relationship Between Sleep and Affect in 22q11.2 Deletion Syndrome. The Journal of genetic psychology. vol 182. issue 5. 2021-08-24. PMID:34114933. |
22q11.2 deletion syndrome (22q11ds) is a neurodevelopmental disorder caused by a microdeletion on the long arm of chromosome 22. |
2021-08-24 |
2023-08-13 |
human |
| Jonathan T Delafield-Butt, Yvonne Freer, Jon Perkins, David Skulina, Ben Schögler, David N Le. Prospective organization of neonatal arm movements: A motor foundation of embodied agency, disrupted in premature birth. Developmental science. vol 21. issue 6. 2019-01-17. PMID:29920860. |
we measured the spatiotemporal organization of 480 full-term neonatal arm movements and 384 arm movements of prematurely born infants at-risk for neurodevelopmental disorder. |
2019-01-17 |
2023-08-13 |
Not clear |
| V Yu Voinova, S G Vorsanova, Yu B Yurov, A D Kolotiy, Yu I Davidova, I A Demidova, P V Novikov, I Yu Iouro. [Clinical and genetic characteristics of the X chromosome distal long arm microduplications encompassing the MECP2 gene]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. vol 115. issue 10. 2016-03-02. PMID:26525614. |
microduplications of the long arm of the x chromosome including the mecp2 gene are relatively common causes of neurodevelopmental disorders in males. |
2016-03-02 |
2023-08-13 |
Not clear |
| Jo Van Herwege. Williams syndrome and its cognitive profile: the importance of eye movements. Psychology research and behavior management. vol 8. 2015-06-17. PMID:26082669. |
people with williams syndrome (ws), a rare neurodevelopmental disorder that is caused by a deletion on the long arm of chromosome 7, often show an uneven cognitive profile with participants performing better on language and face recognition tasks, in contrast to visuospatial and number tasks. |
2015-06-17 |
2023-08-13 |
human |
| Angelika J Dawson, Janice Cox, Karine Hovanes, Elizabeth Sprigg. PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication. Case reports in genetics. vol 2015. 2015-06-11. PMID:26064710. |
the proximal region of the long arm of chromosome 15q11.2-q13 is associated with various neurodevelopmental disorders, including prader-willi (pws) and angelman (as) syndromes, autism, and other developmental abnormalities resulting from deletions and duplications. |
2015-06-11 |
2023-08-13 |
Not clear |
| Jennifer L Miller, Moris Angul. An open-label pilot study of N-acetylcysteine for skin-picking in Prader-Willi syndrome. American journal of medical genetics. Part A. vol 164A. issue 2. 2014-09-11. PMID:24311388. |
prader-willi syndrome (pws) is a complex neurodevelopmental disorder caused by an abnormality on the long arm of chromosome 15 (q11-q13) that results in a host of behavioral characteristics including excessive interest in food, skin picking, difficulty with a change in routine, and obsessive and compulsive behaviors. |
2014-09-11 |
2023-08-12 |
Not clear |
| Anastasia Dimitropoulos, Alan Ho, Benjamin Feldma. Social responsiveness and competence in Prader-Willi syndrome: direct comparison to autism spectrum disorder. Journal of autism and developmental disorders. vol 43. issue 1. 2013-06-28. PMID:22576167. |
prader-willi syndrome (pws), a neurodevelopmental disorder primarily characterized by hyperphagia and food preoccupations, is caused by the absence of expression of the paternally active genes in the proximal arm of chromosome 15. |
2013-06-28 |
2023-08-12 |
human |
| Alan Y Ho, Anastasia Dimitropoulo. Clinical management of behavioral characteristics of Prader-Willi syndrome. Neuropsychiatric disease and treatment. vol 6. 2011-05-17. PMID:20505842. |
prader-willi syndrome (pws) is a complex neurodevelopmental disorder caused by an abnormality on the long arm of chromosome 15 (q11-q13) that results in a host of phenotypic characteristics, dominated primarily by hyperphagia and insatiable appetite. |
2011-05-17 |
2023-08-12 |
Not clear |
| Amber Hogart, David Wu, Janine M LaSalle, N Carolyn Schane. The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13. Neurobiology of disease. vol 38. issue 2. 2010-07-01. PMID:18840528. |
a cluster of low copy repeats on the proximal long arm of chromosome 15 mediates various forms of stereotyped deletions and duplication events that cause a group of neurodevelopmental disorders that are associated with autism or autism spectrum disorders (asd). |
2010-07-01 |
2023-08-12 |
human |
| Bernhard Horsthemke, Joseph Wagstaf. Mechanisms of imprinting of the Prader-Willi/Angelman region. American journal of medical genetics. Part A. vol 146A. issue 16. 2008-09-03. PMID:18627066. |
prader-willi syndrome (pws) and angelman syndrome (as) are two distinct neurodevelopmental disorders, each caused by several genetic and epigenetic mechanisms involving the proximal long arm of chromosome 15. |
2008-09-03 |
2023-08-12 |
Not clear |