Works matching DE "HUMAN chromosome 15 abnormalities"

Results: 132

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

By:

Bowers, Chauncey W.;
Singer-Sam, Judith

Publication type:

Article

Update on Body Composition and Bone Density in Children with Prader-Willi Syndrome.

Published in:

Hormone Research in Paediatrics, 2013, v. 79, n. 5, p. 271, doi. 10.1159/000350525

By:

Rubin, Daniela a.;
Cano-Sokoloff, Natalia;
Castner, Diobel L.;
Judelson, Daniel a.;
Wright, Pamela;
Duran, andrea;
Haqq, andrea M.

Publication type:

Article

The GH/IGF-I Axis and Pituitary Function and Size in Adults with Prader-Willi Syndrome.

Published in:

Hormone Research in Paediatrics, 2011, v. 75, n. 6, p. 403, doi. 10.1159/000323442

By:

van Nieuwpoort;
Sinnema;
Castelijns;
Twisk;
Curfs;
Drent

Publication type:

Article

No association between the ryanodine receptor 3 gene and autism in a Japanese population.

Published in:

Psychiatry & Clinical Neurosciences, 2008, v. 62, n. 3, p. 341, doi. 10.1111/j.1440-1819.2008.01802.x

By:

Tochigi, Mamoru;
Kato, Chieko;
Ohashi, Jun;
Koishi, Shinko;
Kawakubo, Yuki;
Yamamoto, Kenji;
Matsumoto, Hideo;
Hashimoto, Ohiko;
Kim, Soo‐Yung;
Watanabe, Keiichiro;
Kano, Yukiko;
Nanba, Eiji;
Kato, Nobumasa;
Sasaki, Tsukasa

Publication type:

Article

Specific eating and sleeping problems in Prader-Willi and Williams-Beuren syndrome.

Published in:

Child: Care, Health & Development, 1996, v. 22, n. 3, p. 143, doi. 10.1111/j.1365-2214.1996.tb00783.x

By:

Sarimski, K.

Publication type:

Article

Prader-Willi syndrome.

Published in:

1987

By:

Laurance, B. M.

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.

Published in:

BMC Genetics, 2001, v. 2, p. 22, doi. 10.1186/1471-2156-2-22

By:

Chibuk, Thea K.;
Bischof, Jocelyn M.;
Wevrick, Rachel

Publication type:

Article

Pitolisant in an Adolescent with Prader-Willi Syndrome.

Published in:

Journal of Pediatric Pharmacology & Therapeutics, 2021, v. 26, n. 4, p. 405, doi. 10.5863/1551-6776-26.4.405

By:

Pennington, Stephanie;
Stutzman, Danielle;
Sannar, Elise

Publication type:

Article

Behavior in Prader-Willi syndrome: relationship to genetic subtypes and age.

Published in:

Journal of Child Psychology & Psychiatry, 2008, v. 49, n. 9, p. 1001, doi. 10.1111/j.1469-7610.2008.01913.x

By:

Dykens, Elisabeth M.;
Roof, Elizabeth

Publication type:

Article

Genomic imprinting and the expression of affect in Angelman syndrome: what's in the smile?

Published in:

Journal of Child Psychology & Psychiatry, 2007, v. 48, n. 6, p. 571, doi. 10.1111/j.1469-7610.2007.01736.x

By:

Oliver, Chris;
Horsler, Kate;
Berg, Katy;
Bellamy, Gail;
Dick, Katie;
Griffiths, Emily

Publication type:

Article

Angelman Syndrome: Etiology, Clinical Features, Diagnosis, and Management of Symptoms.

Published in:

Pediatric Drugs, 2003, v. 5, n. 10, p. 647, doi. 10.2165/00148581-200305100-00001

By:

Guerrini, Renzo;
Carrozzo, Romeo;
Rinaldi, Roberta;
Bonanni, Paolo

Publication type:

Article

Klinefelter’s Syndrome and Prader-Willi Syndrome: A Rare Combination.

Published in:

Psychopathology, 2007, v. 40, n. 5, p. 356, doi. 10.1159/000106313

By:

Verhoeven;
de Vries;
Duffels;
Egger;
Noordam;
Tuinier

Publication type:

Article

TRABALHO FONOAUDIOLÓGICO EM OFICINA DE COZINHA EM UM CASO DE PRADER-WILLI.

Published in:

2013

By:

Zambotti, Nathalia;
de Paula Souza, Luiz Augusto

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

By:

Reissland, Nadja;
Makhmud, Akerke;
Froggatt, Suzanne

Publication type:

journal article

Prader--Willi syndrome.

Published in:: 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

By:

Bar, Céline;
Diene, Gwenaelle;
Molinas, Catherine;
Bieth, Eric;
Casper, Charlotte;
Tauber, Maithé

Publication type:

journal article

Prader-Willi syndrome mental health research strategy workshop proceedings: the state of the science and future directions.

Published in:

Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0504-1

By:

Schwartz, Lauren;
Holland, Anthony;
Dykens, Elisabeth;
Strong, Theresa;
Roof, Elizabeth;
Bohonowych, Jessica

Publication type:

Article

PRADER-WILLI SYNDROME WITH ASSOCIATED TRIPLE-X MOSAICISM.

Published in:

Acta Endocrinologica (1841-0987), 2010, v. 6, n. 4, p. 521, doi. 10.4183/aeb.2010.521

By:

Pascanu, I.;
Ruff, R.;
Banescu, C.;
Skrypnyk, C.

Publication type:

Article

Yoga baby.

Published in:

Contemporary Pediatrics, 2008, v. 25, n. 6, p. 21

By:

Siberry, George K.;
Chung, Gwendolyn;
Marron-Corwin, Mary-Joan

Publication type:

Article

Endocrine management of children with Prader-Willi syndrome.

Published in:

Pediatric Health, Medicine & Therapeutics, 2013, v. 4, p. 117, doi. 10.2147/PHMT.S32459

By:

Borschiver Medeiros, Clarice;
Bordallo, Ana Paula;
Moutinho Souza, Flavio;
Ferrez Collett-Solberg, Paulo

Publication type:

Article

Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 20, doi. 10.1093/hmg/9.20.3101

By:

Muscatelli, Françoise

Publication type:

Article

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

Published in:

Human Molecular Genetics, 1999, v. 8, n. 6, p. 1025, doi. 10.1093/hmg/8.6.1025

By:

Christian, Susan L.;
Fantes, Judy A.;
Mewborn, Stephanie K.;
Huang, Bing;
Ledbetter, David H.

Publication type:

Article

Differential Gene Expression Reveals Mitochondrial Dysfunction in an Imprinting Center Deletion Mouse Model of Prader-Willi Syndrome.

Published in:

CTS: Clinical & Translational Science, 2013, v. 6, n. 5, p. 347, doi. 10.1111/cts.12083

By:

Yazdi, Puya G.;
Su, Hailing;
Ghimbovschi, Svetlana;
Fan, Weiwei;
Coskun, Pinar E.;
Nalbandian, Angèle;
Knoblach, Susan;
Resnick, James L.;
Hoffman, Eric;
Wallace, Douglas C.;
Kimonis, Virginia E.

Publication type:

Article

Derangements of Hippocampal Calcium/Calmodulin-Dependent Protein Kinase II in a Mouse Model for Angelman Mental Retardation Syndrome.

Published in:

Journal of Neuroscience, 2003, v. 23, n. 7, p. 2634, doi. 10.1523/JNEUROSCI.23-07-02634.2003

By:

Weeber, Edwin J.;
Yong-Hui Jiang;
Elgersma, Ype;
Varga, Andrew W.;
Carrasquillo, Yarimar;
Brown, Sarah E.;
Christian, Jill M.;
Mirnikjoo, Banefisheh;
Silva, Alcino;
Beaudet, Arthur L.;
Sweatt, J. David

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.

Published in:

Journal of Neuroscience, 2003, v. 23, n. 5, p. 1569, doi. 10.1523/JNEUROSCI.23-05-01569.2003

By:

Ren, Jun;
Lee, Syann;
Pagliardini, Silvia;
Gerard, Matthieu;
Stewart, Colin L.;
Greer, John J.;
Wevrick, Rachel

Publication type:

Article

'Fat, Furious, and Forever Wanting Food': Prader-Willi Syndrome in Major Newspapers, 2000-2005.

Published in:

Disability Studies Quarterly, 2007, v. 27, n. 3, p. 35, doi. 10.18061/dsq.v27i3.22

By:

Jones, Karyn Ogata;
Smith, Margaret R.

Publication type:

Article

Jane: A Victim of Prader-Willi Syndrome and the System.

Published in:

Social Work, 1990, v. 35, n. 3, p. 279

By:

Aguilar, Gloria Duran

Publication type:

Article

A targeted deletion upstream of Snrpn does not result in an imprinting defect.

Published in:

Mammalian Genome, 2007, v. 18, n. 4, p. 255, doi. 10.1007/s00335-007-9019-3

By:

Peery, Edwin G.;
Elmore, Michael D.;
Resnick, James L.;
Brannan, Camilynn I.;
Johnstone, Karen A.

Publication type:

Article

Periodontal disease in a patient with Prader-Willi syndrome: a case report.

Published in:

2011

By:

Yanagita, Manabu;
Hirano, Hiroyuki;
Kobashi, Mariko;
Nozaki, Takenori;
Yamada, Satoru;
Kitamura, Masahiro;
Murakami, Shinya

Publication type:

journal article

Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 3, p. 283, doi. 10.1038/ejhg.2011.187

By:

Kim, Soo-Jeong;
Miller, Jennifer L;
Kuipers, Paul J;
German, Jennifer Ruth;
Beaudet, Arthur L;
Sahoo, Trilochan;
Driscoll, Daniel J

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.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1196, doi. 10.1038/ejhg.2010.102

By:

Duker, Angela L.;
Ballif, Blake C.;
Bawle, Erawati V.;
Person, Richard E.;
Mahadevan, Sangeetha;
Alliman, Sarah;
Thompson, Regina;
Traylor, Ryan;
Bejjani, Bassem A.;
Shaffer, Lisa G.;
Rosenfeld, Jill A.;
Lamb, Allen N.;
Sahoo, Trilochan

Publication type:

Article

Angelman syndrome (AS, MIM 105830).

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1367, doi. 10.1038/ejhg.2009.67

By:

Van Buggenhout, Griet;
Fryns, Jean-Pierre

Publication type:

Article

Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1378, doi. 10.1038/ejhg.2009.82

By:

Fichou, Yann;
Bahi-Buisson, Nadia;
Nectoux, Juliette;
Chelly, Jamel;
Héron, Delphine;
Cuisset, Laurence;
Bienvenu, Thierry

Publication type:

Article

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 9, p. 943, doi. 10.1038/sj.ejhg.5201859

By:

Sahoo, Trilochan;
Bacino, Carlos A.;
German, Jennifer R.;
Shaw, Chad A.;
Bird, Lynne M.;
Kimonis, Virginia;
Anselm, Irinia;
Waisbren, Susan;
Beaudet, Arthur L.;
Peters, Sarika U.

Publication type:

Article

Changing rates of genetic subtypes of Prader–Willi syndrome in the UK.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 1, p. 127, doi. 10.1038/sj.ejhg.5201716

By:

Whittington, Joyce E;
Butler, Jill V;
Holland, Anthony J

Publication type:

Article

Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 3, p. 273, doi. 10.1038/sj.ejhg.5201337

By:

Wey, Eva;
Bartholdi, Deborah;
Riegel, Mariluce;
Nazlican, Hülya;
Horsthemke, Bernhard;
Schinzel, Albert;
Baumer, Alessandra

Publication type:

Article

Genotype and phenotype in patients with Prader–Willi Syndrome in Taiwan.

Published in:

Acta Paediatrica, 2007, v. 96, n. 6, p. 902, doi. 10.1111/j.1651-2227.2007.00284.x

By:

Hsiang-Yu Lin;
Shuan-Pei Lin;
Chih-Kuang Chuang;
Ming-Ren Chen;
Jui-Lung Yen;
Yann-Jinn Lee;
Chi-Yu Huang;
Li-Ping Tsai;
Dau-Ming Niu;
Mei-Chyn Chao;
Pao-Lin Kuo

Publication type:

Article

Five-years growth hormone (GH) treatment in adults with Prader-Willi syndrome.

Published in:

Acta Paediatrica, 2007, v. 96, n. 3, p. 410, doi. 10.1111/j.1651-2227.2006.00051.x

By:

Höybye, Charlotte

Publication type:

Article

Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome.

Published in:

Acta Paediatrica, 2006, v. 95, n. 7, p. 861, doi. 10.1080/08035250500527307

By:

Titomanlio, Luigi;
De Brasi, Daniele;
Romano, Alfonso;
Genesio, Rita;
Diano, Alvaro A.;
del Giudice, Ennio

Publication type:

Article

Down's 1864 case of Prader-Willi syndrome: a follow-up report.

Published in:

Journal of the Royal Society of Medicine, 1997, v. 90, n. 12, p. 694, doi. 10.1177/014107689709001221

By:

Ward, O. Conor

Publication type:

Article

Truncation of <i>Ube3a-ATS</i> Unsilences Paternal <i>Ube3a</i> and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model.

Published in:

PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1004039

By:

Meng, Linyan;
Person, Richard Erwin;
Huang, Wei;
Zhu, Ping Jun;
Costa-Mattioli, Mauro;
Beaudet, Arthur L.

Publication type:

Article

Recent Assembly of an Imprinted Domain from Non-Imprinted Components.

Published in:

PLoS Genetics, 2006, v. 3, n. 4, p. 1666, doi. 10.1371/journal.pgen.0020182

By:

Rapkins, Robert W.;
Hore, Tim;
Smithwick, Megan;
Ager, Eleanor;
Pask, Andrew J.;
Renfree, Marilyn B.;
Kohn, Matthias;
Hameister, Horst;
Nicholls, Robert D.;
Deakin, Janine E.;
Marshall Graves, Jennifer A.

Publication type:

Article

Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion.

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2015, v. 20, n. 1, p. 40, doi. 10.6065/apem.2015.20.1.40

By:

Aram Yang;
Yeon Hee Lee;
Soon Young Nam;
Yu Ju Jeong;
Yechan Kyung;
Rimm Huh;
Jieun Lee;
Younghee Kwun;
Sung Yoon Cho;
Dong-Kyu Jin

Publication type:

Article

Voices.

Published in:

Mental Health Practice, 2005, v. 8, n. 8, p. 46

By:

Barker, Phil

Publication type:

Article

Quality of life and psychological well-being in GH-treated, adult PWS patients: a longitudinal study.

Published in:

Journal of Intellectual Disability Research, 2007, v. 51, n. 4, p. 302, doi. 10.1111/j.1365-2788.2006.00878.x

By:

Bertella, L.;
Mori, I.;
Grugni, G.;
Pignatti, R.;
Ceriani, F.;
Molinari, E.;
Ceccarelli, A.;
Sartorio, A.;
Vettor, R.;
Semenza, C.

Publication type:

Article

Modes of imprinted gene action in learning disability.

Published in:

Journal of Intellectual Disability Research, 2006, v. 50, n. 5, p. 318, doi. 10.1111/j.1365-2788.2006.00843.x

By:

Isles, A. R.;
Humby, T.

Publication type:

Article

Repetitive and ritualistic behaviour in children with Prader–Willi syndrome and children with autism.

Published in:

Journal of Intellectual Disability Research, 2006, v. 50, n. 2, p. 92, doi. 10.1111/j.1365-2788.2005.00726.x

By:

Greaves, N.;
Prince, E.;
Evans, D. W.;
Charman, T.

Publication type:

Article

A measure of food seeking in individuals with Prader–Willi syndrome.

Published in:

Journal of Intellectual Disability Research, 2006, v. 50, n. 1, p. 18, doi. 10.1111/j.1365-2788.2005.00724.x

By:

Young, J.;
Zarcone, J.;
Holsen, L.;
Anderson, M. C.;
Hall, S.;
Richman, D.;
Butler, M. G.;
Thompson, T.

Publication type:

Article

The behavioural phenotype of Angelman syndrome.

Published in:

Journal of Intellectual Disability Research, 2006, v. 50, n. 1, p. 33, doi. 10.1111/j.1365-2788.2005.00730.x

By:

Horsler, K.;
Oliver, C.

Publication type:

Article

Preferences in individuals with Angelman syndrome assessed by a modified Choice Assessment Scale.

Published in:

Journal of Intellectual Disability Research, 2006, v. 50, n. 1, p. 54, doi. 10.1111/j.1365-2788.2005.00731.x

By:

Didden, R.;
Korzilius, H.;
Kamphuis, A.;
Sturmey, P.;
Lancioni, G.;
Curfs, L. M. G.

Publication type:

Article