Works matching DE "HUMAN chromosome 15 abnormalities"
Results: 134
Presence of the R1748X Mutation in the NF1 Gene in a Brazilian Patient with Ectropion uveae.
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- Ophthalmic Research, 2004, v. 36, n. 6, p. 349, doi. 10.1159/000081638
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- Article
PARENTS' PERSPECTIVES ON INCLUSION AND SCHOOLING OF STUDENTS WITH ANGELMAN SYNDROME: SUGGESTIONS FOR EDUCATORS.
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- International Journal of Special Education, 2011, v. 26, n. 2, p. 79
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- Article
Maladaptive behaviour in Prader-Willi syndrome in adult life.
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- Journal of Intellectual Disability Research, 1996, v. 40, n. 2, p. 159, doi. 10.1111/j.1365-2788.1996.tb00617.x
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- Article
Personality profiles of youngsters with Prader-Willi syndrome and youngsters attending regular schools.
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- Journal of Intellectual Disability Research, 1995, v. 39, n. 3, p. 241, doi. 10.1111/j.1365-2788.1995.tb00506.x
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- Article
Behaviour problems in Angelman syndrome.
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- Journal of Intellectual Disability Research, 1995, v. 39, n. 2, p. 97, doi. 10.1111/j.1365-2788.1995.tb00477.x
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- Article
Prader-Willi syndrome in old age.
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- Journal of Intellectual Disability Research, 1994, v. 38, n. 5, p. 529, doi. 10.1111/j.1365-2788.1994.tb00441.x
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- Article
Urothelial Carcinoma in a 22-Year-Old Female with Angelman Syndrome.
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- 2017
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- Case Study
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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- Article
Alterations in white matter pathways in Angelman syndrome.
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- Developmental Medicine & Child Neurology, 2011, v. 53, n. 4, p. 361, doi. 10.1111/j.1469-8749.2010.03838.x
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- Article
Increased frequency of severe major anomalies in children conceived by intracytoplasmic sperm injection.
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- Developmental Medicine & Child Neurology, 2007, v. 49, n. 2, p. 129, doi. 10.1111/j.1469-8749.2007.00129.x
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- Article
Angelman syndrome as a rare anaesthetic problem.
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- 2004
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- Letter
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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- 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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- Article
Analysis of the DNA sequence and duplication history of human chromosome 15.
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- 2006
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- Publication type:
- Letter
SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome.
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- Human Genetics, 2004, v. 114, n. 6, p. 553, doi. 10.1007/s00439-004-1104-z
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- Article
Mutations.
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- Human Genetics, 2003, v. 113, n. 4, p. 367, doi. 10.1007/s00439-003-0995-4
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- Article
Characterisation of interstitial duplications and triplications of chromosome 15q11–q13.
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- Human Genetics, 2002, v. 110, n. 3, p. 227, doi. 10.1007/s00439-002-0678-6
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- Article
An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family.
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- Human Genetics, 2000, v. 107, n. 1, p. 83, doi. 10.1007/s004390050015
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- 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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- Article
TRABALHO FONOAUDIOLÓGICO EM OFICINA DE COZINHA EM UM CASO DE PRADER-WILLI.
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- 2013
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- Case Study
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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- Article
Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment.
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- Cytogenetic & Genome Research, 2007, v. 116, n. 1/2, p. 135, doi. 10.1159/000097433
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- Article
A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient.
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- Cytogenetic & Genome Research, 2006, v. 114, n. 1, p. 89, doi. 10.1159/000091934
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- Article
Asystole during Outbursts of Laughing in a Child with Angelman Syndrome.
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- Pediatric Cardiology, 2005, v. 26, n. 6, p. 866, doi. 10.1007/s00246-005-0985-5
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- Article
Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors.
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- Journal of Human Genetics, 2011, v. 56, n. 8, p. 566, doi. 10.1038/jhg.2011.59
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- Article
Narrowed abrogation of the Angelman syndrome critical interval on human chromosome 15 does not interfere with epigenotype maintenance in somatic cells.
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- Journal of Human Genetics, 2005, v. 50, n. 3, p. 124, doi. 10.1007/s10038-005-0231-2
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- Article
Ube3a is required for experience-dependent maturation of the neocortex.
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- Nature Neuroscience, 2009, v. 12, n. 6, p. 777, doi. 10.1038/nn.2327
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- Article
Epilepsy in Angelman syndrome: A questionnaire-based assessment of the natural history and current treatment options.
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- Epilepsia (Series 4), 2009, v. 50, n. 11, p. 2369, doi. 10.1111/j.1528-1167.2009.02108.x
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- Article
Angelman syndrome: Current understanding and research prospects.
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- Epilepsia (Series 4), 2009, v. 50, n. 11, p. 2331, doi. 10.1111/j.1528-1167.2009.02311.x
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- Article
Another Rett Patient with a Typical Angelman EEG.
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- Epilepsia (Series 4), 2003, v. 44, n. 6, p. 873, doi. 10.1046/j.1528-1157.2003.04803_3.x
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- Article
Response: Another Rett Patient with a Typical Angelman EEG.
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- Epilepsia (Series 4), 2003, v. 44, n. 6, p. 874, doi. 10.1046/j.1528-1157.2003.04803_4.x
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- Article
Compulsiones en el síndrome de Prader-Willi: presencia y gravedad en función del subtipo genético.
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- Actas Espanolas de Psiquiatria, 2019, v. 47, n. 3, p. 79
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- Article
Non-chromosome 15 marker chromosome in a Prader-Willi syndrome patient with uniparental disomy.
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- Pediatrics International, 2006, v. 48, n. 1, p. 97, doi. 10.1111/j.1442-200X.2006.02163.x
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- Article
Unique maternal deletion of 15q in a patient with some symptoms of Prader-Willi syndrome.
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- Pediatrics International, 2005, v. 47, n. 5, p. 541, doi. 10.1111/j.1442-200x.2005.02116.x
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- Article
Characteristics of hyperthermia and its complications in patients with Prader Willi syndrome.
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- Pediatrics International, 2005, v. 47, n. 5, p. 550, doi. 10.1111/j.1442-200x.2005.02124.x
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- Article
Preference for water-related items in Angelman syndrome, Down syndrome and non-specific intellectual disability.
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- Journal of Intellectual & Developmental Disability, 2008, v. 33, n. 1, p. 59, doi. 10.1080/13668250701872126
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- Article
Benefit of Early Commencement of Growth Hormone Therapy in Children with Prader-Willi Syndrome.
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- Journal of Pediatric Endocrinology & Metabolism, 2009, v. 22, n. 12, p. 1151, doi. 10.1515/JPEM.2009.22.12.1151
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- Article
Everyday Physical Activity and Adiposity in Prader-Willi Syndrome.
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- Journal of Pediatric Endocrinology & Metabolism, 2008, v. 21, n. 11, p. 1041, doi. 10.1515/JPEM.2008.21.11.1041
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- Article
Different Genotypes in Prader-Willi Syndrome.
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- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 85
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- 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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- 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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- 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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- 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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- 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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- 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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- Article
A computational screen for C/D box snoRNAs in the human genomic region associated with Prader-Willi and Angelman syndromes.
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- Journal of Biomedical Science, 2008, v. 15, n. 6, p. 697, doi. 10.1007/s11373-008-9271-x
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- Article
Electroencephalogram (EEG) Duration Needed to Detect Abnormalities in Angelman Syndrome: Is 1 Hour of Overnight Recording Sufficient?
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- Journal of Child Neurology, 2015, v. 30, n. 1, p. 58, doi. 10.1177/0883073814530498
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- 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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- 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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- 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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- Article