Works matching Prader-Willi and Angelman syndromes

Results: 222

CORRELATION OF CLINICAL, GENETIC AND EPIGENETIC ASPECTS IMPLICATED IN THE ETIOLOGY OF PRADER WILLI/ANGELMAN SYNDROMES.

Published in:

Bulletin of the University of Agricultural Sciences & Veterinary Medicine Cluj-Napoca. Veterinary Medicine, 2008, v. 65, n. 1, p. 435

By:

Maria, Puiu;
Dan, Dorica;
Dumache, Raluca;
Anton, Gabriela;
Cucu, Natalia

Publication type:

Article

Baby food and bedtime: Evidence for opposite phenotypes from different genetic and epigenetic alterations in Prader-Willi and Angelman syndromes.

Published in:

SAGE Open Medicine, 2019, p. N.PAG, doi. 10.1177/2050312118823585

By:

Salminen, Iiro Ilmari;
Crespi, Bernard J;
Mokkonen, Mikael

Publication type:

Article

Baby food and bedtime: Evidence for opposite phenotypes from different genetic and epigenetic alterations in Prader-Willi and Angelman syndromes.

Published in:

SAGE Open Medicine, 2019, v. 7, p. N.PAG, doi. 10.1177/2050312118823585

By:

Salminen, Iiro Ilmari;
Crespi, Bernard J;
Mokkonen, Mikael

Publication type:

Article

Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 8, p. 857, doi. 10.1038/ejhg.2011.59

By:

Boyle, Jennifer;
Hawkins, Malcolm;
Barton, David E.;
Meaney, Karen;
Guitart, Miriam;
O'Grady, Anna;
Tobi, Simon;
Ramsden, Simon C.;
Elles, Rob;
Gray, Elaine;
Metcalfe, Paul;
Hawkins, J. Ross

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

Establishing a Standardized DNA Extraction Method Using NaCl from Oral Mucosa Cells for Its Application in Imprinting Diseases Such as Prader–Willi and Angelman Syndromes: A Preliminary Investigation.

Published in:

Genes, 2024, v. 15, n. 5, p. 641, doi. 10.3390/genes15050641

By:

da Fonseca, Letícia Lopes Cabral Guimarães;
Rocha, Danielle Nascimento;
Cintra, Hiago Azevedo;
de Araújo, Luiza Loureiro;
dos Santos, Gabrielle Leal Monteiro;
de Faria, Leonardo Lima;
Salú, Margarida dos Santos;
Leite, Silvia Helena dos Santos;
Rocha, Adriana Duarte;
Lopes, Maria da Conceição Borges;
Ferreira, Igor Ribeiro;
Gomes, Leonardo Henrique Ferreira;
Guida, Letícia Cunha

Publication type:

Article

Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes.

Published in:

Journal of Neurodevelopmental Disorders, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s11689-018-9242-0

By:

Baker, Emma K.;
Godler, David E.;
Bui, Minh;
Hickerton, Chriselle;
Rogers, Carolyn;
Field, Mike;
Amor, David J.;
Bretherton, Lesley

Publication type:

Article

Generation of isogenic models of Angelman syndrome and Prader-Willi syndrome in CRISPR/Cas9-engineered human embryonic stem cells.

Published in:

PLoS ONE, 2024, v. 19, n. 11, p. 1, doi. 10.1371/journal.pone.0311565

By:

Gilmore, Rachel B.;
Gorka, Dea;
Stoddard, Christopher E.;
Sonawane, Pooja;
Cotney, Justin;
Chamberlain, Stormy J.

Publication type:

Article

FLUROSENCE IN SITU HYBRIDIZATION (FISH) DETECTION OF CHROMOSOME 15Q11-Q13 DELETION IN PRADER -- WILLI AND ANGELMAN SYNDROME PATIENTS.

Published in:

Malaysian Journal of Medical Sciences, 2006, v. 13, p. 202

By:

M. A., Noratifah;
I., Siti Mariam;
M. A., Suhaida;
A., Ravindran;
B. A., Zilfalil

Publication type:

Article

A Streamlined Approach to Prader-Willi and Angelman Syndrome Molecular Diagnostics.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.608889

By:

Strom, Samuel P.;
Hossain, Waheeda A.;
Grigorian, Melina;
Li, Mickey;
Fierro, Joseph;
Scaringe, William;
Yen, Hai-Yun;
Teguh, Mirandy;
Liu, Joanna;
Gao, Harry;
Butler, Merlin G.

Publication type:

Article

Prader-Willi and Angelman Syndromes: Mechanisms and Management.

Published in:

Application of Clinical Genetics, 2023, v. 16, p. 41, doi. 10.2147/TACG.S372708

By:

Ma, Van K;
Mao, Rong;
Toth, Jessica N;
Fulmer, Makenzie L;
Egense, Alena S;
Shankar, Suma P

Publication type:

Article

Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome.

Published in:

Annals of Laboratory Medicine, 2022, v. 42, n. 1, p. 79, doi. 10.3343/alm.2022.42.1.79

By:

Boram Kim;
Yongsook Park;
Sung Im Cho;
Man Jin Kim;
Jong-Hee Chae;
Ji Yeon Kim;
Moon-Woo Seong;
Sung Sup Park

Publication type:

Article

Towards a molecular understanding of Prader-Willi and Angelman syndromes.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 10, p. 1867, doi. 10.1093/hmg/8.10.1867

By:

Mann, Mellissa R. W.;
Bartolomei, Marisa S.

Publication type:

Article

FISH ordering of reference markers and of the gene for the α5 subunit of the γ-aminobutyric acid receptor (GABRA5) within the Angelman and Prader–Willi syndrome chromosomal regions.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 2, p. 183

By:

Knoll, Joan H.M.;
Sinnett, Daniel;
Wagstaff, Joseph;
Glatt, Karen;
Wilcox, Andrea Schantz;
Whiting, Paul M.;
Wingrove, Peter;
Sikela, James M.;
Lalande, Marc

Publication type:

Article

Imprint switch mechanism indicated by mutations in Prader-Willi and Angelman syndromes.

Published in:

BioEssays, 1997, v. 19, n. 5, p. 361, doi. 10.1002/bies.950190502

By:

Kelsey, Gavin;
Reik, Wolf

Publication type:

Article

Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0420-x

By:

Liu, Chang;
Zhang, Xiangzhong;
Wang, Jicheng;
Zhang, Yan;
Wang, Anshi;
Lu, Jian;
Huang, Yanlin;
Liu, Shu;
Wu, Jing;
Du, Li;
Yang, Jie;
Ding, Hongke;
Liu, Ling;
Zhao, Xin;
Yin, Aihua

Publication type:

Article

A modified MS-PCR approach to diagnose patients with Prader-Willi and Angelman syndrome.

Published in:

Molecular Biology Reports, 2016, v. 43, n. 11, p. 1221, doi. 10.1007/s11033-016-4055-2

By:

Santos, Jéssica;
Mota, Laís;
Rocha, Pedro;
Ferreira de Lima, Renata

Publication type:

Article

Molecular and cytogenetic analyses of a patient with Prader-Willi syndrome who also had the phenotype of Angelman syndrome.

Published in:

2013

By:

Miyako, Kenichi;
Kawano, Atsuko;
Mushimoto, Yuichi

Publication type:

Abstract

Prader–Willi and Angelman syndromes: genetic counseling.

Published in:

2010

By:

Camprubí, Cristina;
Coll, Maria Dolors;
Gabau, Elisabeth;
Guitart, Míriam

Publication type:

Letter

Fertility in Prader-Willi syndrome: a case report with Angelman syndrome in the offspring.

Published in:

Acta Paediatrica, 2001, v. 90, n. 4, p. 455, doi. 10.1111/j.1651-2227.2001.tb00451.x

By:

Schulze, A;
Mogensen, H;
Hamborg-Petersen, B;
Graem, N;
Østergaard, JR;
Brøndum-Nielsen, K

Publication type:

Article

Transcription Is Required to Establish Maternal Imprinting at the Prader-Willi Syndrome and Angelman Syndrome Locus.

Published in:

PLoS Genetics, 2011, v. 7, n. 12, p. 1, doi. 10.1371/journal.pgen.1002422

By:

Smith, Emily Y.;
Futtner, Christopher R.;
Chamberlain, Stormy J.;
Johnstone, Karen A.;
Resnick, James L.

Publication type:

Article

Síndromes Prader-Willi y Angelman: serie de casos diagnosticados mediante la técnica de MS-MLPA.

Published in:

Revista Medica del IMSS, 2021, v. 59, n. 2, p. 170

By:

Maryalexandra Rios-Flores, Izabel;
Bobadilla-Morales, Lucina;
Peña-Padilla, Christian;
Corona-Rivera, Alfredo;
Acosta-Fernández, Elizabeth;
Santana-Hernández, Jennifer;
Alejandro Brukman-Jiménez, Sinhue;
Román Corona-Rivera, Jorge

Publication type:

Article

A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-69750-0

By:

Ferreira, Igor Ribeiro;
Costa, Régis Afonso;
Gomes, Leonardo Henrique Ferreira;
dos Santos Cunha, Wilton Darleans;
Tyszler, Latife Salomão;
Freitas, Silvia;
Llerena Junior, Juan Clinton;
de Vasconcelos, Zilton Farias Meira;
Nicholls, Robert D.;
Guida, Letícia da Cunha

Publication type:

Article

Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromes.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 3, p. 181, doi. 10.1038/sj.ejhg.5201134

By:

Flori, Elisabeth;
Biancalana, Valérie;
Girard-Lemaire, Françoise;
Favre, Romain;
Flori, Jean;
Doray, Bérénice;
Mandel, Jean Louis

Publication type:

Article

Prader–Willi Syndrome with Angelman Syndrome in the Offspring.

Published in:

Medicina (1010660X), 2021, v. 57, n. 5, p. 460, doi. 10.3390/medicina57050460

By:

Greco, Donatella;
Vetri, Luigi;
Ragusa, Letizia;
Vinci, Mirella;
Gloria, Angelo;
Occhipinti, Paola;
Costanzo, Angela Antonia;
Quatrosi, Giuseppe;
Roccella, Michele;
Buono, Serafino;
Romano, Corrado

Publication type:

Article

A suspicious case of mosaic Prader–Willi and Angelman syndromes.

Published in:

Egyptian Journal of Forensic Sciences, 2013, v. 3, n. 4, p. 127, doi. 10.1016/j.ejfs.2013.07.003

By:

Alfehaid, Suha;
Madani, Osama Al;
Karoshah, Magdy;
Bamousa, Manal;
Mohammed, Madadin

Publication type:

Article

"Over time it just becomes easier...": parents of people with Angelman syndrome and Prader–Willi syndrome speak about their carer role.

Published in:

Disability & Rehabilitation, 2017, v. 39, n. 9, p. 763, doi. 10.3109/09638288.2016.1161838

By:

Thomson, Allyson;
Glasson, Emma;
Roberts, Peter;
Bittles, Alan

Publication type:

Article

"Over time it just becomes easier . . .": parents of people with Angelman syndrome and Prader-Willi syndrome speak about their carer role.

Published in:

Disability & Rehabilitation, 2017, v. 39, n. 8, p. 763, doi. 10.3109/09638288.2016.1161838

By:

Thomson, Allyson;
Glasson, Emma;
Roberts, Peter;
Bittles, Alan

Publication type:

Article

Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome.

Published in:

PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0147824

By:

Zhang, Kaihui;
Liu, Shu;
Feng, Bing;
Yang, Yali;
Zhang, Haiyan;
Dong, Rui;
Liu, Yi;
Gai, Zhongtao

Publication type:

Article

Regulatory Elements Associated with Paternally-Expressed Genes in the Imprinted Murine Angelman/Prader-Willi Syndrome Domain.

Published in:

PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0052390

By:

Rodriguez-Jato, Sara;
Shan, Jixiu;
Khadake, Jyoti;
Heggestad, Arnold D.;
Ma, Xiaojie;
Johnstone, Karen A.;
Resnick, James L.;
Yang, Thomas P.

Publication type:

Article

De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s.

Published in:

PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0039180

By:

Rossi, Elena;
Giorda, Roberto;
Bonaglia, Maria Clara;
Di Candia, Stefania;
Grechi, Elena;
Franzese, Adriana;
Soli, Fiorenza;
Rivieri, Francesca;
Patricelli, Maria Grazia;
Saccilotto, Donatella;
Bonfante, Aldo;
Giglio, Sabrina;
Beri, Silvana;
Rocchi, Mariano;
Zuffardi, Orsetta

Publication type:

Article

Prader-Willi syndrome and Angelman syndrome: Visualisation of the molecular pathways for two chromosomal disorders.

Published in:

World Journal of Biological Psychiatry, 2019, v. 20, n. 9, p. 670, doi. 10.1080/15622975.2018.1439594

By:

Ehrhart, Friederike;
Janssen, Kelly J. M.;
Coort, Susan L.;
Evelo, Chris T.;
Curfs, Leopold M. G.

Publication type:

Article

Angelman and Prader-Willi Syndromes: Sister Imprinting Disorders With High Complication Rates Following Spinal Deformity Surgery.

Published in:

Orthopedics, 2023, v. 46, n. 4, p. e223, doi. 10.3928/01477447-20230207-07

By:

Winsauer, Andrew G.;
Thornberg, David C.;
Rodriguez, Stephen M.;
Poppino, Kiley F.;
Ramo, Brandon A.

Publication type:

Article

Maternal parenting stress in families with a child with Angelman syndrome or Prader–Willi syndrome.

Published in:

2010

By:

Wulffaert J;
Scholte EM;
Van Berckelaer-Onnes IA

Publication type:

Journal Article

Maternal parenting stress in families with a child with Angelman syndrome or Prader–Willi syndrome.

Published in:

Journal of Intellectual & Developmental Disability, 2010, v. 35, n. 3, p. 165, doi. 10.3109/13668250.2010.499101

By:

Wulffaert, Josette;
Scholte, Evert M.;
Van Berckelaer-Onnes, Ina A.

Publication type:

Article

Evaluation of an In-House Genetic Testing Method for Confirming Prader-Willi and Angelman Syndromes in Sri Lanka.

Published in:

Clinical Laboratory, 2024, v. 70, n. 8, p. 1532, doi. 10.7754/Clin.Lab.2024.240245

By:

Kugalingam, Nirosha;
de Silva, Deepthi;
Rathnayake, Pyara;
Atapattu, Navoda;
Ranaweera, Dinali M.;
Chandrasekharan, Naduviladath V.

Publication type:

Article

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.

Published in:

BMC Medical Genetics, 2010, v. 11, p. 70, doi. 10.1186/1471-2350-11-70

By:

Ramsden, Simon C.;
Clayton-Smith, Jill;
Birch, Rachael;
Buiting, Karin

Publication type:

Article

DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting.

Published in:

Prenatal Diagnosis, 2000, v. 20, n. 4, p. 300, doi. 10.1002/(SICI)1097-0223(200004)20:4<300::AID-PD803>3.0.CO;2-A

By:

Glenn, Christopher C.;
Deng, Glenn;
Michaelis, Ron C.;
Tarleton, Jack;
Phelan, Mary C.;
Surh, Linda;
Yang, Thomas P.;
Driscoll, Daniel J.

Publication type:

Article

Feasibility of wearable technology for 'real‐world' gait analysis in children with Prader–Willi and Angelman syndromes.

Published in:

Journal of Intellectual Disability Research, 2022, v. 66, n. 8, p. 717, doi. 10.1111/jir.12955

By:

Kraan, C. M.;
Date, P.;
Rattray, A.;
Sangeux, M.;
Bui, Q. M.;
Baker, E. K.;
Morison, J.;
Amor, D. J.;
Godler, D. E.

Publication type:

Article

ANÁLISE COMPARATIVA ENTRE AS METODOLOGIAS DE PCR METILAÇÃO-ESPECÍFICA (MSP), SOUTHERN BLOT (SB) E FISH UTILIZADAS NO DIAGNÓSTICO GENÉTICO MOLECULAR DE PACIENTES COM SUSPEITA CLÍNICA DAS SÍNDROMES DE PRADER-WILLI OU ANGELMAN.

Published in:

Clinical & Biomedical Research, 2016, v. 36, n. 2, p. 71, doi. 10.4322/2357-9730.64823

By:

Oliveira, Bruna;
da Cunha Veber, Letícia;
Félix, Têmis Maria;
Riegel, Mariluce;
Bandeira da Silva, Isabel Cristina;
Streit, Carla;
Leistner-Segal, Sandra

Publication type:

Article

Brief Report: Challenging Behaviors in Toddlers and Preschoolers with Angelman, Prader–Willi, and Williams Syndromes.

Published in:

Journal of Autism & Developmental Disorders, 2019, v. 49, n. 4, p. 1717, doi. 10.1007/s10803-018-3853-x

By:

Neo, Wei Siong;
Tonnsen, Bridgette L.

Publication type:

Article

A computational screen for C/D box snoRNAs in the human genomic region associated with Prader-Willi and Angelman syndromes.

Published in:

Journal of Biomedical Science, 2008, v. 15, n. 6, p. 697, doi. 10.1007/s11373-008-9271-x

By:

Sridhar, Padmavati;
Hin Hark Gan;
Schlick, Tamar

Publication type:

Article

Clinical characteristics and epilepsy in genomic imprinting disorders: Angelman syndrome and Prader–Willi syndrome.

Published in:

Tzu Chi Medical Journal, 2020, v. 32, n. 2, p. 137, doi. 10.4103/tcmj.tcmj_103_19

By:

Wang, Tzong-Shi;
Tsai, Wen-Hsin;
Tsai, Li-Ping;
Wong, Shi-Bing

Publication type:

Article

Prader-Willi-Syndrom und Angelman-Syndrom.

Published in:

Medizinische Genetik, 2010, v. 22, n. 4, p. 392, doi. 10.1007/s11825-010-0250-z

By:

Albrecht, B.;
Buiting, K.

Publication type:

Article

Evolution of Genomic Imprinting with Biparental Care: Implications for Prader-Willi and Angelman Syndromes.

Published in:

PLoS Biology, 2008, v. 6, n. 8, p. e208, doi. 10.1371/journal.pbio.0060208

By:

Úbeda, Francisco

Publication type:

Article

Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes.

Published in:

Molecular Human Reproduction, 1997, v. 3, n. 4, p. 321, doi. 10.1093/molehr/3.4.321

By:

Glenn, C C;
Driscoll, D J;
Yang, T P;
Nicholls, R D

Publication type:

Article

Prader-Willi and Angelman Syndromes: Diagnostic Approach.

Published in:

International Journal on Disability & Human Development (De Gruyter), 2000, v. 1, n. 3, p. 115, doi. 10.1515/ijdhd.2000.1.3.115

By:

Abeliovich, Dvorah

Publication type:

Article

Identification of novel variations of oculocutaneous albinism type 2 with Prader-Willi syndrome/Angelman syndrome in two Chinese families.

Published in:

Frontiers in Genetics, 2023, v. 14, p. 01, doi. 10.3389/fgene.2023.1135698

By:

XiaoFei Chen;
ZiShui Fang;
Ting Pang;
DongZhi Li;
Jie Lei;
WeiYing Jiang;
HongYi Li

Publication type:

Article

Prenatal diagnosis of Prader-Willi syndrome and Angelman syndrome for fetuses with suspicious deletion of chromosomal region 15q11-q13.

Published in:

2014

By:

Chang, Chia-Wei;
Hsu, Hui-Kuo;
Kao, Chiu-Ching;
Huang, Jyun-Yuan;
Kuo, Pao-Lin

Publication type:

journal article

Prenatal diagnosis of Prader–Willi syndrome and Angelman syndrome for fetuses with suspicious deletion of chromosomal region 15q11-q13.

Published in:

International Journal of Gynecology & Obstetrics, 2014, v. 125, n. 1, p. 18, doi. 10.1016/j.ijgo.2013.09.028

By:

Chang, Chia‐Wei;
Hsu, Hui‐Kuo;
Kao, Chiu‐Ching;
Huang, Jyun‐Yuan;
Kuo, Pao‐Lin

Publication type:

Article