Works matching DE "HUMAN chromosome 15 abnormalities"
Results: 134
Unique Retrotransposon LINE-1 Distribution at the Prader–Willi Angelman Syndrome Locus.
- Published in:
- Journal of Molecular Evolution, 2007, v. 65, n. 4, p. 475, doi. 10.1007/s00239-007-9043-7
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- Publication type:
- Article
Neuroscience: Angelman syndrome connections.
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- Nature, 2010, v. 468, n. 7326, p. 907, doi. 10.1038/468907a
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- Publication type:
- Article
Update on Body Composition and Bone Density in Children with Prader-Willi Syndrome.
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- Hormone Research in Paediatrics, 2013, v. 79, n. 5, p. 271, doi. 10.1159/000350525
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- Publication type:
- Article
The GH/IGF-I Axis and Pituitary Function and Size in Adults with Prader-Willi Syndrome.
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- Hormone Research in Paediatrics, 2011, v. 75, n. 6, p. 403, doi. 10.1159/000323442
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- Publication type:
- Article
No association between the ryanodine receptor 3 gene and autism in a Japanese population.
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- Psychiatry & Clinical Neurosciences, 2008, v. 62, n. 3, p. 341, doi. 10.1111/j.1440-1819.2008.01802.x
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- Publication type:
- Article
Specific eating and sleeping problems in Prader-Willi and Williams-Beuren syndrome.
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- Child: Care, Health & Development, 1996, v. 22, n. 3, p. 143, doi. 10.1111/j.1365-2214.1996.tb00783.x
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- Publication type:
- Article
Prader-Willi syndrome.
- Published in:
- 1987
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- Publication type:
- Conference Paper/Materials
A necdin/MAGE-like gene in the chromosome 15 autism susceptibility region: expression, imprinting, and mapping of the human and mouse orthologues.
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- BMC Genetics, 2001, v. 2, p. 22, doi. 10.1186/1471-2156-2-22
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- Publication type:
- Article
Pitolisant in an Adolescent with Prader-Willi Syndrome.
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- Journal of Pediatric Pharmacology & Therapeutics, 2021, v. 26, n. 4, p. 405, doi. 10.5863/1551-6776-26.4.405
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- Publication type:
- Article
Behavior in Prader-Willi syndrome: relationship to genetic subtypes and age.
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- Journal of Child Psychology & Psychiatry, 2008, v. 49, n. 9, p. 1001, doi. 10.1111/j.1469-7610.2008.01913.x
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- Publication type:
- Article
Genomic imprinting and the expression of affect in Angelman syndrome: what's in the smile?
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- Journal of Child Psychology & Psychiatry, 2007, v. 48, n. 6, p. 571, doi. 10.1111/j.1469-7610.2007.01736.x
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- Publication type:
- Article
Angelman Syndrome: Etiology, Clinical Features, Diagnosis, and Management of Symptoms.
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- Pediatric Drugs, 2003, v. 5, n. 10, p. 647, doi. 10.2165/00148581-200305100-00001
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- Publication type:
- Article
Klinefelter’s Syndrome and Prader-Willi Syndrome: A Rare Combination.
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- Psychopathology, 2007, v. 40, n. 5, p. 356, doi. 10.1159/000106313
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- Publication type:
- Article
TRABALHO FONOAUDIOLÓGICO EM OFICINA DE COZINHA EM UM CASO DE PRADER-WILLI.
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- 2013
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- Publication type:
- Case Study
Comparing a foetus diagnosed with Prader-Willi syndrome with non-affected foetuses during light and sound stimulation using 4D ultrasound.
- Published in:
- 2019
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- Publication type:
- journal article
Prader--Willi syndrome.
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- Current Medical Literature: Growth, Growth Hormone, & Metabolism, 2008, v. 2, n. 2, p. 57
- Publication type:
- Article
Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
Prader-Willi syndrome mental health research strategy workshop proceedings: the state of the science and future directions.
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- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0504-1
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- Publication type:
- Article
PRADER-WILLI SYNDROME WITH ASSOCIATED TRIPLE-X MOSAICISM.
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- Acta Endocrinologica (1841-0987), 2010, v. 6, n. 4, p. 521, doi. 10.4183/aeb.2010.521
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- Publication type:
- Article
Yoga baby.
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- Contemporary Pediatrics, 2008, v. 25, n. 6, p. 21
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- Publication type:
- Article
Endocrine management of children with Prader-Willi syndrome.
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- Pediatric Health, Medicine & Therapeutics, 2013, v. 4, p. 117, doi. 10.2147/PHMT.S32459
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- Publication type:
- Article
Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome.
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- Human Molecular Genetics, 2000, v. 9, n. 20, doi. 10.1093/hmg/9.20.3101
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- Publication type:
- Article
Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).
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- Human Molecular Genetics, 1999, v. 8, n. 6, p. 1025, doi. 10.1093/hmg/8.6.1025
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- Publication type:
- Article
Differential Gene Expression Reveals Mitochondrial Dysfunction in an Imprinting Center Deletion Mouse Model of Prader-Willi Syndrome.
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- CTS: Clinical & Translational Science, 2013, v. 6, n. 5, p. 347, doi. 10.1111/cts.12083
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- Publication type:
- Article
Derangements of Hippocampal Calcium/Calmodulin-Dependent Protein Kinase II in a Mouse Model for Angelman Mental Retardation Syndrome.
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- Journal of Neuroscience, 2003, v. 23, n. 7, p. 2634, doi. 10.1523/JNEUROSCI.23-07-02634.2003
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- Publication type:
- Article
Absence of Ndn, Encoding the Prader-Willi Syndrome-Deleted Gene necdin, Results in Congenital Deficiency of Central Respiratory Drive in Neonatal Mice.
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- Journal of Neuroscience, 2003, v. 23, n. 5, p. 1569, doi. 10.1523/JNEUROSCI.23-05-01569.2003
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- Publication type:
- Article
'Fat, Furious, and Forever Wanting Food': Prader-Willi Syndrome in Major Newspapers, 2000-2005.
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- Disability Studies Quarterly, 2007, v. 27, n. 3, p. 35, doi. 10.18061/dsq.v27i3.22
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- Publication type:
- Article
Jane: A Victim of Prader-Willi Syndrome and the System.
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- Social Work, 1990, v. 35, n. 3, p. 279
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- Publication type:
- Article
A targeted deletion upstream of Snrpn does not result in an imprinting defect.
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- Mammalian Genome, 2007, v. 18, n. 4, p. 255, doi. 10.1007/s00335-007-9019-3
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- Publication type:
- Article
Periodontal disease in a patient with Prader-Willi syndrome: a case report.
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- 2011
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- Publication type:
- journal article
Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes.
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- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 283, doi. 10.1038/ejhg.2011.187
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- Publication type:
- Article
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
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- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1196, doi. 10.1038/ejhg.2010.102
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- Publication type:
- Article
Angelman syndrome (AS, MIM 105830).
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- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1367, doi. 10.1038/ejhg.2009.67
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- Publication type:
- Article
Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome.
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- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1378, doi. 10.1038/ejhg.2009.82
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- Publication type:
- Article
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations.
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- European Journal of Human Genetics, 2007, v. 15, n. 9, p. 943, doi. 10.1038/sj.ejhg.5201859
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- Publication type:
- Article
Changing rates of genetic subtypes of Prader–Willi syndrome in the UK.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 127, doi. 10.1038/sj.ejhg.5201716
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- Publication type:
- Article
Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome.
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- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 273, doi. 10.1038/sj.ejhg.5201337
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- Article
Genotype and phenotype in patients with Prader–Willi Syndrome in Taiwan.
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- Acta Paediatrica, 2007, v. 96, n. 6, p. 902, doi. 10.1111/j.1651-2227.2007.00284.x
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- Publication type:
- Article
Five-years growth hormone (GH) treatment in adults with Prader-Willi syndrome.
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- Acta Paediatrica, 2007, v. 96, n. 3, p. 410, doi. 10.1111/j.1651-2227.2006.00051.x
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- Publication type:
- Article
Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome.
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- Acta Paediatrica, 2006, v. 95, n. 7, p. 861, doi. 10.1080/08035250500527307
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- Publication type:
- Article
Down's 1864 case of Prader-Willi syndrome: a follow-up report.
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- Journal of the Royal Society of Medicine, 1997, v. 90, n. 12, p. 694, doi. 10.1177/014107689709001221
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- Publication type:
- Article
Truncation of <i>Ube3a-ATS</i> Unsilences Paternal <i>Ube3a</i> and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model.
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- PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1004039
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- Publication type:
- Article
Recent Assembly of an Imprinted Domain from Non-Imprinted Components.
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- PLoS Genetics, 2006, v. 3, n. 4, p. 1666, doi. 10.1371/journal.pgen.0020182
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- Publication type:
- Article
Analysis of the DNA sequence and duplication history of human chromosome 15.
- Published in:
- 2006
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- Publication type:
- Letter
Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion.
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- Annals of Pediatric Endocrinology & Metabolism, 2015, v. 20, n. 1, p. 40, doi. 10.6065/apem.2015.20.1.40
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- Publication type:
- Article
Voices.
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- Mental Health Practice, 2005, v. 8, n. 8, p. 46
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- Publication type:
- Article
Quality of life and psychological well-being in GH-treated, adult PWS patients: a longitudinal study.
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- Journal of Intellectual Disability Research, 2007, v. 51, n. 4, p. 302, doi. 10.1111/j.1365-2788.2006.00878.x
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- Publication type:
- Article
Modes of imprinted gene action in learning disability.
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- Journal of Intellectual Disability Research, 2006, v. 50, n. 5, p. 318, doi. 10.1111/j.1365-2788.2006.00843.x
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- Publication type:
- Article
Repetitive and ritualistic behaviour in children with Prader–Willi syndrome and children with autism.
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- Journal of Intellectual Disability Research, 2006, v. 50, n. 2, p. 92, doi. 10.1111/j.1365-2788.2005.00726.x
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- Publication type:
- Article
A measure of food seeking in individuals with Prader–Willi syndrome.
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- Journal of Intellectual Disability Research, 2006, v. 50, n. 1, p. 18, doi. 10.1111/j.1365-2788.2005.00724.x
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- Publication type:
- Article