Works matching Human chromosome 15 abnormalities

Results: 135

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

Children with Prader–Willi syndrome vs. Williams syndrome: indirect effects on parents during a jigsaw puzzle task.

Published in:

Journal of Intellectual Disability Research, 2005, v. 49, n. 12, p. 929, doi. 10.1111/j.1365-2788.2005.00782.x

By:

Ly, T. M.;
Hodapp, R. M.

Publication type:

Article

ADHD symptoms and insistence on sameness in Prader-Willi syndrome.

Published in:

Journal of Intellectual Disability Research, 2005, v. 49, n. 6, p. 449, doi. 10.1111/j.1365-2788.2005.00690.x

By:

Wigren, M.;
Hansen, S.

Publication type:

Article

Cognitive, emotional, physical and social effects of growth hormone treatment in adults with Prader–Willi syndrome.

Published in:

Journal of Intellectual Disability Research, 2005, v. 49, n. 4, p. 245, doi. 10.1111/j.1365-2788.2005.00641.x

By:

Höybye, C.;
Thorén, M.;
Böhm, B.

Publication type:

Article

Academic underachievement by people with Prader–Willi syndrome.

Published in:

Journal of Intellectual Disability Research, 2004, v. 48, n. 2, p. 188, doi. 10.1111/j.1365-2788.2004.00473.x

By:

Whittington, J.;
Holland, A.;
Webb, T.;
Butler, J.;
Clarke, D.;
Boer, H.

Publication type:

Article

Cognitive abilities and genotype in a population-based sample of people with Prader–Willi syndrome.

Published in:

Journal of Intellectual Disability Research, 2004, v. 48, n. 2, p. 172, doi. 10.1111/j.1365-2788.2004.00556.x

By:

Whittington, J.;
Holland, A.;
Webb, T.;
Butler, J.;
Clarke, D.;
Boer, H.

Publication type:

Article

Voice, speech and language characteristics of children with Prader-Willi syndrome.

Published in:

Journal of Intellectual Disability Research, 1997, v. 41, n. 4, p. 302, doi. 10.1111/j.1365-2788.1997.tb00713.x

By:

A.Åkefeldt;
B.Åkefeldt;
Gillberg, C.

Publication type:

Article

Maladaptive behaviour in Prader-Willi syndrome in adult life.

Published in:

Journal of Intellectual Disability Research, 1996, v. 40, n. 2, p. 159, doi. 10.1111/j.1365-2788.1996.tb00617.x

By:

Clarke, D. J.;
Boer, H.;
Chung, M. C.;
Sturmey, P.;
Webb, T.

Publication type:

Article

Personality profiles of youngsters with Prader-Willi syndrome and youngsters attending regular schools.

Published in:

Journal of Intellectual Disability Research, 1995, v. 39, n. 3, p. 241, doi. 10.1111/j.1365-2788.1995.tb00506.x

By:

Curfs, L. M. G.;
Hoondert, V.;
van Lieshout, C. F. M.;
Fryns, J.-P.

Publication type:

Article

Behaviour problems in Angelman syndrome.

Published in:

Journal of Intellectual Disability Research, 1995, v. 39, n. 2, p. 97, doi. 10.1111/j.1365-2788.1995.tb00477.x

By:

Summers, J. A.;
Allison, D. B.;
Lynch, P. S.;
Sandier, L.

Publication type:

Article

Prader-Willi syndrome in old age.

Published in:

Journal of Intellectual Disability Research, 1994, v. 38, n. 5, p. 529, doi. 10.1111/j.1365-2788.1994.tb00441.x

By:

Carpenter, P. K.

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

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

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

Prader--Willi syndrome.

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

Anaesthesia for Angelman syndrome.

Published in:

Anaesthesia, 2008, v. 63, n. 6, p. 659, doi. 10.1111/j.1365-2044.2008.05439.x

By:

Ramanathan, K. R.;
Muthuswamy, D.;
Jenkins, B. J.

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

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

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.

Published in:

Cytogenetic & Genome Research, 2007, v. 116, n. 1/2, p. 135, doi. 10.1159/000097433

By:

Murthy, S. K.;
Nygren, A. O. H.;
El Shakankiry, H. M.;
Schouten, J. P.;
Al Khayat, A. I.;
Ridha, A.;
Al Ali, M. T.

Publication type:

Article

A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient.

Published in:

Cytogenetic & Genome Research, 2006, v. 114, n. 1, p. 89, doi. 10.1159/000091934

By:

Varela, M. C.;
Krepischi-Santos, A. C. V.;
Paz, J. A.;
Knijnenburg, J.;
Szuhai, K.;
Rosenberg, C.;
Koiffmann, C. P.

Publication type:

Article

An Unexpected Function of the Prader-Willi Syndrome Imprinting Center in Maternal Imprinting in Mice.

Published in:

PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0034348

By:

Wu, Mei-Yi;
Jiang, Ming;
Zhai, Xiaodong;
Beaudet, Arthur L.;
Wu, Ray-Chang

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

Alterations in white matter pathways in Angelman syndrome.

Published in:

Developmental Medicine & Child Neurology, 2011, v. 53, n. 4, p. 361, doi. 10.1111/j.1469-8749.2010.03838.x

By:

PETERS, SARIKA U.;
KAUFMANN, WALTER E.;
BACINO, CARLOS A.;
ANDERSON, ADAM W.;
ADAPA, PAVANI;
CHU, ZILI;
YALLAMPALLI, RAGINI;
TRAIPE, ELFRIDES;
HUNTER, JILL V.;
WILDE, ELISABETH A.

Publication type:

Article

Increased frequency of severe major anomalies in children conceived by intracytoplasmic sperm injection.

Published in:

Developmental Medicine & Child Neurology, 2007, v. 49, n. 2, p. 129, doi. 10.1111/j.1469-8749.2007.00129.x

By:

Sanchez-Albisua, I.;
Borell-Kost, S.;
Mau-Holzmann, U. A.;
Licht, P.;
Krägeloh-Mann, I.

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

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

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

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

An obese young man with uncontrolled diabetes and insatiable hunger: Prader-Willi Syndrome.

Published in:

Indian Journal of Endocrinology & Metabolism, 2013, v. 17, n. S3, p. S680, doi. 10.4103/2230-8210.123566

By:

Nair, Abilash;
Kishore, Shyam;
Gupta, Ranjan;
Sharma, A.;
Jyotsna, V. P.

Publication type:

Article

Growth hormone therapy for Prader-willi syndrome: challenges and solutions.

Published in:

2016

By:

Grugni, Graziano;
Sartorio, Alessandro;
Crinò, Antonino

Publication type:

journal 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

Mosaicism for Deletion of 15q11.2q13 in a Patient With Atypical Angelman Syndrome Phenotype: A Second Case.

Published in:

Journal of Genetic Counseling, 2002, v. 11, n. 6, p. 492

By:

Berkheim, L.;
Lewin, S.O.;
Carey, J.C.

Publication type:

Article