Works matching Human chromosome 15 abnormalities

Results: 135

Angelman syndrome as a rare anaesthetic problem.

Published in:

2004

By:

Bujok, Grzegorz;
Knapik, Piotr

Publication type:

Letter

Voices.

Published in:

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

By:

Barker, Phil

Publication type:

Article

Genetic subtype differences in neural circuitry of food motivation in Prader-Willi syndrome.

Published in:

International Journal of Obesity, 2009, v. 33, n. 2, p. 273, doi. 10.1038/ijo.2008.255

By:

Holsen, L. M.;
Zarcone, J. R.;
Chambers, R.;
Butler, M. G.;
Bittel, D. C.;
Brooks, W. M.;
Thompson, T. I.;
Savage, C. R.

Publication type:

Article

Preference for water-related items in Angelman syndrome, Down syndrome and non-specific intellectual disability.

Published in:

Journal of Intellectual & Developmental Disability, 2008, v. 33, n. 1, p. 59, doi. 10.1080/13668250701872126

By:

Didden, Robert;
Korzilius, Hubert;
Sturmey, Peter;
Lancioni, Giulio E.;
Curfs, Leopold M. G.

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

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

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

Prader-Willi syndrome.

Published in:

1987

By:

Laurance, B. M.

Publication type:

Conference Paper/Materials

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

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

Prader-Willi Syndrome.

Published in:

American Family Physician, 2005, v. 72, n. 5, p. 827

By:

Wattendorf, Daniel J.;
Muenke, Maximilian

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

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

Published in:

2016

By:

Grugni, Graziano;
Sartorio, Alessandro;
Crinò, Antonino

Publication type:

journal article

Different Genotypes in Prader-Willi Syndrome.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 85

By:

Demirkol, Yasemin Kendir;
Tayfun, Gülşen Akay;
Elçioğlu, Huriye Nursel

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

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

Prader--Willi syndrome.

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

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

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

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

Cutis tricolor parvimaculata in ring chromosome 15 syndrome: A case report.

Published in:

Pediatric Dermatology, 2018, v. 35, n. 3, p. e204, doi. 10.1111/pde.13497

By:

Ribeiro Dias Barroso, Cristina;
Silveira Gomes, Leonardo;
Abrantes Silvestre, Vinícius;
Yamada Utagawa, Claudia

Publication type:

Article

Urothelial Carcinoma in a 22-Year-Old Female with Angelman Syndrome.

Published in:

2017

By:

Pugh, Jessica;
Huffaker, R. Keith

Publication type:

Case Study

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

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

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

A case of duodenal web occurring in Prader-Willi syndrome.

Published in:

Journal of Paediatrics & Child Health, 2005, v. 41, n. 9/10, p. 527, doi. 10.1111/j.1440-1754.2005.00697.x

By:

Vitug-Sales, Maribel I.;
Lemberg, Daniel A.;
Cunningham, Clare;
Henry, Guy;
Day, Andrew S.

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