Works matching Human chromosome 15 abnormalities

Results: 135

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

Compulsiones en el síndrome de Prader-Willi: presencia y gravedad en función del subtipo genético.

Published in:

Actas Espanolas de Psiquiatria, 2019, v. 47, n. 3, p. 79

By:

Novell-Alsina, Ramon;
Esteba-Castillo, Susanna;
Caixàs, Asumpta;
Gabau, Elisabeth;
Giménez-Palop, Olga;
Pujol, Jesus;
Deus, Joan;
Torrents-Rodas, David

Publication type:

Article

The Prevalence and Phenomenology of Repetitive Behavior in Genetic Syndromes.

Published in:

Journal of Autism & Developmental Disorders, 2009, v. 39, n. 4, p. 572, doi. 10.1007/s10803-008-0655-6

By:

Moss, Joanna;
Oliver, Chris;
Arron, Kate;
Burbidge, Cheryl;
Berg, Katy

Publication type:

Article

Parent Report of Stereotyped Behaviors, Social Interaction, and Developmental Disturbances in Individuals with Angelman Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2007, v. 37, n. 5, p. 940, doi. 10.1007/s10803-006-0233-8

By:

Walz, Nicolay Chertkoff

Publication type:

Article

Characterization of an Autism-Associated Segmental Maternal Heterodisomy of the Chromosome 15q11–13 Region.

Published in:

Journal of Autism & Developmental Disorders, 2007, v. 37, n. 4, p. 694, doi. 10.1007/s10803-006-0225-8

By:

Kwasnicka-Crawford, Dorota A.;
Roberts, Wendy;
Scherer, Stephen W.

Publication type:

Article

Quality of life assessment in a sample of patients affected by Prader–Willi syndrome.

Published in:

Journal of Paediatrics & Child Health, 2007, v. 43, n. 12, p. 826, doi. 10.1111/j.1440-1754.2007.01200.x

By:

Caliandro, Pietro;
Grugni, Graziano;
Padua, Luca;
Kodra, Yllka;
Tonali, Pietro;
Gargantini, Luigi;
Ragusa, Letizia;
Crinò, Antonino;
Taruscio, Domenica

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

Behavioral Characteristics of Prader-Willi Syndrome in Korea: Comparison With Children With Mental Retardation and Normal Controls.

Published in:

Journal of Child Neurology, 2005, v. 20, n. 2, p. 134, doi. 10.1177/08830738050200021001

By:

Kim, Jae-won;
Yoo, Hee-jeong;
Cho, Soo-churl;
Michael Hong, Kang-E;
Kim, Boong-nyun

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

Epilepsy in Angelman syndrome: A questionnaire-based assessment of the natural history and current treatment options.

Published in:

Epilepsia (Series 4), 2009, v. 50, n. 11, p. 2369, doi. 10.1111/j.1528-1167.2009.02108.x

By:

Thibert, Ronald L.;
Conant, Kerry D.;
Braun, Eileen K.;
Bruno, Patricia;
Said, Rana R.;
Nespeca, Mark P.;
Thiele, Elizabeth A.

Publication type:

Article

Angelman syndrome: Current understanding and research prospects.

Published in:

Epilepsia (Series 4), 2009, v. 50, n. 11, p. 2331, doi. 10.1111/j.1528-1167.2009.02311.x

By:

Dan, Bernard

Publication type:

Article

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

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

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

Analysis of the DNA sequence and duplication history of human chromosome 15.

Published in:

2006

By:

Zody, Michael C.;
Garber, Manuel;
Sharpe, Ted;
Young, Sarah K.;
Rowen, Lee;
O'Neill, Keith;
Whittaker, Charles A.;
Kamal, Michael;
Chang, Jean L.;
Cuomo, Christina A.;
Dewar, Ken;
FitzGerald, Michael G.;
Kodira, Chinnappa D.;
Madan, Anup;
Shizhen Qin;
Xiaoping Yang;
Abbasi, Nissa;
Abouelleil, Amr;
Arachchi, Harindra M.;
Baradarani, Lida

Publication type:

Letter

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

Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 8, p. 566, doi. 10.1038/jhg.2011.59

By:

Matsubara, Keiko;
Murakami, Nobuyuki;
Nagai, Toshiro;
Ogata, Tsutomu

Publication type:

Article

Narrowed abrogation of the Angelman syndrome critical interval on human chromosome 15 does not interfere with epigenotype maintenance in somatic cells.

Published in:

Journal of Human Genetics, 2005, v. 50, n. 3, p. 124, doi. 10.1007/s10038-005-0231-2

By:

Haruta, Masayuki;
Meguro, Makiko;
Sakamoto, Yu-ki;
Hoshiya, Hidetoshi;
Kashiwagi, Akiko;
Kaneko, Yasuhiko;
Mitsuya, Kohzoh;
Oshimura, Mitsuo

Publication type:

Article

Parents' Priorities for AAC and Related Instruction for their Children with Angelman Syndrome.

Published in:

AAC: Augmentative & Alternative Communication, 2010, v. 26, n. 1, p. 30, doi. 10.3109/07434610903585406

By:

Calculator, Stephen N.;
Black, Tibbany

Publication type:

Article

The assessment of food-related problems in individuals with Prader-Willi syndrome.

Published in:

British Journal of Clinical Psychology, 2003, v. 42, n. 4, p. 379, doi. 10.1348/014466503322528928

By:

Russell, Helen;
Oliver, Chris

Publication type:

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

Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 5, p. 411, doi. 10.1038/sj.ejhg.5201168

By:

Nazarenko, Sergey;
Sazhenova, Elena;
Baumer, Alessandra;
Schinzel, Albert

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

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

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

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.

Published in:

Nature Genetics, 2008, v. 40, n. 6, p. 719, doi. 10.1038/ng.158

By:

Sahoo, Trilochan;
del Gaudio, Daniela;
German, Jennifer R.;
Shinawi, Marwan;
Peters, Sarika U.;
Person, Richard E.;
Garnica, Adolfo;
Cheung, Sau Wai;
Beaudet, Arthur L.

Publication type:

Article

Prader-Willi and snoRNAs.

Published in:

Nature Genetics, 2008, v. 40, n. 6, p. 688, doi. 10.1038/ng0608-688

By:

Peters, Jo

Publication type:

Article

Angelman syndrome: clinical findings and follow-up data of 14 patients.

Published in:

Turkish Journal of Pediatrics, 2008, v. 50, n. 2, p. 137

By:

Kara, Bülent;
Karaman, Birsen;
Özmen, Meral;
Rosti, Rasim Özgür;
Çalişkan, Mine;
Kayserili, Hülya;
Başaran, Seher

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

Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model mice.

Published in:

2019

By:

Bin Gu;
Carstens, Kelly E.;
Judson, Matthew C.;
Dalton, Katherine A.;
Rougié, Marie;
Clark, Ellen P.;
Dudek, Serena M.;
Philpot, Benjamin D.;
Gu, Bin

Publication type:

journal article

Metabolic health profile in young adults with Prader-Willi syndrome: results of a 2-year randomized, placebo-controlled, crossover GH trial.

Published in:

Clinical Endocrinology, 2017, v. 86, n. 2, p. 297, doi. 10.1111/cen.13247

By:

Kuppens, R.J.;
Bakker, N.E.;
Siemensma, E.P.C.;
Donze, S.H.;
Stijnen, T.;
Hokken‐Koelega, A.C.S.

Publication type:

Article

Assessment of central adrenal insufficiency in children and adolescents with Prader-Willi syndrome.

Published in:

Clinical Endocrinology, 2012, v. 76, n. 6, p. 843, doi. 10.1111/j.1365-2265.2011.04313.x

By:

Corrias, Andrea;
Grugni, Graziano;
Crinò, Antonino;
Di Candia, Stefania;
Chiabotto, Patrizia;
Cogliardi, Anna;
Chiumello, Giuseppe;
De Medici, Clotilde;
Spera, Sabrina;
Gargantini, Luigi;
Iughetti, Lorenzo;
Luce, Antonella;
Mariani, Benedetta;
Ragusa, Letizia;
Salvatoni, Alessandro;
Andrulli, Simeone;
Mussa, Alessandro;
Beccaria, Luciano

Publication type:

Article

Thyroid axis dysfunction in patients with Prader-Willi syndrome during the first 2 years of life.

Published in:

Clinical Endocrinology, 2010, v. 73, n. 4, p. 546, doi. 10.1111/j.1365-2265.2010.03840.x

By:

Vaiani, Elisa;
Herzovich, Viviana;
Chaler, Eduardo;
Chertkoff, Lilien;
Rivarola, Marco A.;
Torrado, Maria;
Belgorosky, Alicia

Publication type:

Article

Characteristics of cardiac and vascular structure and function in Prader–Willi syndrome.

Published in:

Clinical Endocrinology, 2007, v. 66, n. 6, p. 771, doi. 10.1111/j.1365-2265.2007.02808.x

By:

Patel, Sanjay;
Harmer, Jason A.;
Loughnan, Georgina;
Skilton, Michael R.;
Steinbeck, Katharine;
Celermajer, David S.

Publication type:

Article

A lesser postprandial suppression of plasma ghrelin in Prader–Willi syndrome is associated with low fasting and a blunted postprandial PYY response.

Published in:

Clinical Endocrinology, 2007, v. 66, n. 2, p. 198, doi. 10.1111/j.1365-2265.2006.02707.x

By:

Giménez-Palop, Olga;
Giménez-Pérez, Gabriel;
Mauricio, Dídac;
González-Clemente, José-Miguel;
Potau, Neus;
Berlanga, Eugenio;
Trallero, Roser;
Laferrère, Blandine;
Caixàs, Assumpta

Publication type:

Article

Growth hormone treatment and adverse events in Prader–Willi syndrome: data from KIGS (the Pfizer International Growth Database).

Published in:

Clinical Endocrinology, 2006, v. 65, n. 2, p. 178, doi. 10.1111/j.1365-2265.2006.02570.x

By:

Craig, Maria E.;
Cowell, Christopher T.;
Larsson, Pontus;
Zipf, William B.;
Reiter, Edward O.;
Albertsson Wikland, Kerstin;
Ranke, Michael B.;
Price, David A.

Publication type:

Article

Prader-Willi Syndrome: An Update and Review for the Primary Pediatrician.

Published in:

Clinical Pediatrics, 2007, v. 46, n. 7, p. 580, doi. 10.1177/0009922807299314

By:

Chen, Christina;
Visootsak, Jeannie;
Dills, Shelley;
John M. Graham Jr.

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

Prader--Willi syndrome.

Published in:: Current Medical Literature: Growth, Growth Hormone, & Metabolism, 2008, v. 2, n. 2, p. 57
Publication type:: Article

The noncoding RNA IPW regulates the imprinted DLK1-DIO3 locus in an induced pluripotent stem cell model of Prader-Willi syndrome.

Published in:

Nature Genetics, 2014, v. 46, n. 6, p. 551, doi. 10.1038/ng.2968

By:

Stelzer, Yonatan;
Sagi, Ido;
Yanuka, Ofra;
Eiges, Rachel;
Benvenisty, Nissim

Publication type:

Article