Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome
Chong Kun Cheon
Ann Pediatr Endocrinol Metab. 2016;21(3):126-135.   Published online 2016 Sep 30     DOI: https://doi.org/10.6065/apem.2016.21.3.126
Citations to this article as recorded by Crossref logo
The Spectrum of the Prader–Willi-like Pheno- and Genotype: A Review of the Literature
Alicia F Juriaans, Gerthe F Kerkhof, Anita C S Hokken-Koelega
Endocrine Reviews.2022; 43(1): 1.     CrossRef
Phylogenetic and Molecular Analyses Identify SNORD116 Targets Involved in the Prader–Willi Syndrome
Laeya Baldini, Anne Robert, Bruno Charpentier, Stéphane Labialle, Ilya Ruvinsky
Molecular Biology and Evolution.2022;[Epub]     CrossRef
Epigenetic Regulation Disturbances on Gene Expression in Imprinting Diseases
D. V. Zaletaev, M. V. Nemtsova, V. V. Strelnikov
Molecular Biology.2022; 56(1): 1.     CrossRef
Imaging neural circuit pathology of autism spectrum disorders: autism-associated genes, animal models and the application of in vivo two-photon imaging
Hiroshi Terashima, Keiichiro Minatohara, Hisato Maruoka, Shigeo Okabe
Microscopy.2022; 71(Supplement): i81.     CrossRef
Hypothalamic syndrome
Hermann L. Müller, Maithé Tauber, Elizabeth A. Lawson, Jale Özyurt, Brigitte Bison, Juan-Pedro Martinez-Barbera, Stephanie Puget, Thomas E. Merchant, Hanneke M. van Santen
Nature Reviews Disease Primers.2022;[Epub]     CrossRef
Syndromic and Nonsyndromic Obesity: Underlying Genetic Causes in Humans
Jessica Duis, Merlin G. Butler
Advanced Biology.2022; : 2101154.     CrossRef
Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China
Dai Yang-Li, Luo Fei-Hong, Zhang Hui-Wen, Ma Ming-Sheng, Luo Xiao-Ping, Liu Li, Wang Yi, Zhou Qing, Jiang Yong-Hui, Zou Chao-Chun, Shan Xiao-Ou, Yang Yu, Zhang Hui-Feng, Tian Zhi-Liang, Sun Bo, Lu Mei, Cheng Ya-Ying, Yang Ying, Yu Xiong-Ying, Zhang Jing,
Orphanet Journal of Rare Diseases.2022;[Epub]     CrossRef
Proteins and proteases of Prader–Willi syndrome: a comprehensive review and perspectives
Sanjukta Basak, Ajoy Basak
Bioscience Reports.2022;[Epub]     CrossRef
Health Problems in Adults with Prader–Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature
Anna G. W. Rosenberg, Charlotte M. Wellink, Juan M. Tellez Garcia, Karlijn Pellikaan, Denise H. Van Abswoude, Kirsten Davidse, Laura J. C. M. Van Zutven, Hennie T. Brüggenwirth, James L. Resnick, Aart J. Van der Lely, Laura C. G. De Graaff
Journal of Clinical Medicine.2022; 11(14): 4033.     CrossRef
Multi‐omics analysis reveals multiple mechanisms causing Prader–Willi like syndrome in a family with a X;15 translocation
Jesper Eisfeldt, Fatemah Rezayee, Maria Pettersson, Kristina Lagerstedt, Helena Malmgren, Anna Falk, Giedre Grigelioniene, Anna Lindstrand
Human Mutation.2022;[Epub]     CrossRef
Atypical 15q11.2-q13 Deletions and the Prader-Willi Phenotype
Lionne N. Grootjen, Alicia F. Juriaans, Gerthe F. Kerkhof, Anita C. S. Hokken-Koelega
Journal of Clinical Medicine.2022; 11(15): 4636.     CrossRef
Case Report: Clinical Analysis of Seven Neonates With Prader-Willi Syndrome and Review of the Literature
Yu Hu, XinDong Xue, JianHua Fu
Frontiers in Pediatrics.2021;[Epub]     CrossRef
Hypogonadism in Patients with Prader Willi Syndrome: A Narrative Review
Luigi Napolitano, Biagio Barone, Simone Morra, Giuseppe Celentano, Roberto La Rocca, Marco Capece, Vincenzo Morgera, Carmine Turco, Vincenzo Francesco Caputo, Gianluca Spena, Lorenzo Romano, Luigi De Luca, Gianluigi Califano, Claudia Collà Ruvolo, Frances
International Journal of Molecular Sciences.2021; 22(4): 1993.     CrossRef
A Comprehensive Review of Genetically Engineered Mouse Models for Prader-Willi Syndrome Research
Delf-Magnus Kummerfeld, Carsten A. Raabe, Juergen Brosius, Dingding Mo, Boris V. Skryabin, Timofey S. Rozhdestvensky
International Journal of Molecular Sciences.2021; 22(7): 3613.     CrossRef
Methylation of the SNRPN gene in infertile men without mutations in common candidate genes for reduced fertility
D. S. Mikhaylenko, О. A. Simonova, I. El Akel, I. Yu. Sobol, Т. A. Edoyan, Е. A. Efremov, E. B. Kuznetsova, М. V. Nemtsova
Andrology and Genital Surgery.2021; 22(1): 52.     CrossRef
The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature
Karlijn Pellikaan, Geeske M. van Woerden, Lotte Kleinendorst, Anna G. W. Rosenberg, Bernhard Horsthemke, Christian Grosser, Laura J. C. M. van Zutven, Elisabeth F. C. van Rossum, Aart J. van der Lely, James L. Resnick, Hennie T. Brüggenwirth, Mieke M. van
Genes.2021; 12(6): 875.     CrossRef
Effects of Childhood Multidisciplinary Care and Growth Hormone Treatment on Health Problems in Adults with Prader-Willi Syndrome
Karlijn Pellikaan, Anna G. W. Rosenberg, Kirsten Davidse, Anja A. Kattentidt-Mouravieva, Rogier Kersseboom, Anja G. Bos-Roubos, Lionne N. Grootjen, Layla Damen, Sjoerd A. A. van den Berg, Aart J. van der Lely, Anita C. S. Hokken-Koelega, Laura C. G. de Gr
Journal of Clinical Medicine.2021; 10(15): 3250.     CrossRef
Transmission of a Novel Imprinting Center Deletion Associated With Prader–Willi Syndrome Through Three Generations of a Chinese Family: Case Presentation, Differential Diagnosis, and a Lesson Worth Thinking About
Kaihui Zhang, Shu Liu, Wenjun Gu, Yuqiang Lv, Haihua Yu, Min Gao, Dong Wang, Jianyuan Zhao, Xiaoying Li, Zhongtao Gai, Shimin Zhao, Yi Liu, Yiyuan Yuan
Frontiers in Genetics.2021;[Epub]     CrossRef
Thyroid Function in Adults with Prader–Willi Syndrome; a Cohort Study and Literature Review
Karlijn Pellikaan, Fleur Snijders, Anna G. W. Rosenberg, Kirsten Davidse, Sjoerd A. A. van den Berg, W. Edward Visser, Aart J. van der Lely, Laura C. G. de Graaff
Journal of Clinical Medicine.2021; 10(17): 3804.     CrossRef
Hypogonadism in Adult Males with Prader-Willi Syndrome—Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion
Karlijn Pellikaan, Yassine Ben Brahim, Anna G. W. Rosenberg, Kirsten Davidse, Christine Poitou, Muriel Coupaye, Anthony P. Goldstone, Charlotte Høybye, Tania P. Markovic, Graziano Grugni, Antonino Crinò, Assumpta Caixàs, Talia Eldar-Geva, Harry J. Hirsch,
Journal of Clinical Medicine.2021; 10(19): 4361.     CrossRef
Molecular Changes in Prader-Willi Syndrome Neurons Reveals Clues About Increased Autism Susceptibility
A. Kaitlyn Victor, Martin Donaldson, Daniel Johnson, Winston Miller, Lawrence T. Reiter
Frontiers in Molecular Neuroscience.2021;[Epub]     CrossRef
Hypogonadism in Women with Prader-Willi Syndrome—Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion
Karlijn Pellikaan, Yassine Ben Brahim, Anna G. W. Rosenberg, Kirsten Davidse, Christine Poitou, Muriel Coupaye, Anthony P. Goldstone, Charlotte Høybye, Tania P. Markovic, Graziano Grugni, Antonino Crinò, Assumpta Caixàs, Talia Eldar-Geva, Harry J. Hirsch,
Journal of Clinical Medicine.2021; 10(24): 5781.     CrossRef
Prader-Willi syndrome: an update on obesity and endocrine problems
Su Jin Kim, Sung Yoon Cho, Dong-Kyu Jin
Annals of Pediatric Endocrinology & Metabolism.2021; 26(4): 227.     CrossRef
Effects of Vitrification on the Imprinted Gene Snrpn in Neonatal Placental Tissue
Jian-Feng Yao, Yan-Fang Huang, Rong-Fu Huang, Su-Xia Lin, Cai-Qiong Guo, Cheng-Zhou Hua, Pei-Ya Wu, Ji-Feng Hu, You-Zhu Li
Reproductive and Developmental Medicine.2020; 4(1): 25.     CrossRef
Case of 15q26-qter deletion associated with a Prader-Willi phenotype
Jéssica Fernandes dos Santos, Angelina Xavier Acosta, Gabriela Gayer Scheibler, Paula Monique Leite Pitanga, Esmeralda Santos Alves, Joanna Goes Castro Meira, Évelin Aline Zanardo, Leslie Domenici Kulikowski, Renata Lúcia Leite Ferreira de Lima, Acácia Fe
European Journal of Medical Genetics.2020; 63(8): 103955.     CrossRef
Application value of NIPT for uncommon fetal chromosomal abnormalities
Lianli Yin, Yinghua Tang, Qing Lu, Aiping Pan, Mingfang Shi
Molecular Cytogenetics.2020;[Epub]     CrossRef
Prader-Willi Syndrome: Molecular Mechanism and Epigenetic Therapy
Zhong Mian-Ling, Chao Yun-Qi, Zou Chao-Chun
Current Gene Therapy.2020; 20(1): 36.     CrossRef
Obesity Genomics and Metabolomics: a Nexus of Cardiometabolic Risk
Jessica A. Regan, Svati H. Shah
Current Cardiology Reports.2020;[Epub]     CrossRef
Early start of growth hormone is associated with positive effects on auxology and metabolism in Prader-Willi-syndrome
Lucy Magill, Constanze Laemmer, Joachim Woelfle, Rolf Fimmers, Bettina Gohlke
Orphanet Journal of Rare Diseases.2020;[Epub]     CrossRef
Missed Diagnoses and Health Problems in Adults With Prader-Willi Syndrome: Recommendations for Screening and Treatment
Karlijn Pellikaan, Anna G W Rosenberg, Anja A Kattentidt-Mouravieva, Rogier Kersseboom, Anja G Bos-Roubos, José M C Veen-Roelofs, Nina van Wieringen, Franciska M E Hoekstra, Sjoerd A A van den Berg, Aart Jan van der Lely, Laura C G de Graaff
The Journal of Clinical Endocrinology & Metabolism.2020; 105(12): e4671.     CrossRef
Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome
Andrea S. Montes, Kathryn E. Osann, June Anne Gold, Roy N. Tamura, Daniel J. Driscoll, Merlin G. Butler, Virginia E. Kimonis
Genes.2020; 11(11): 1250.     CrossRef
Clinical, molecular genetics and therapeutic aspects of syndromic obesity
E. Geets, M.E.C. Meuwissen, W. Van Hul
Clinical Genetics.2019; 95(1): 23.     CrossRef
Baby food and bedtime: Evidence for opposite phenotypes from different genetic and epigenetic alterations in Prader-Willi and Angelman syndromes
Iiro Ilmari Salminen, Bernard J Crespi, Mikael Mokkonen
SAGE Open Medicine.2019; 7: 205031211882358.     CrossRef
Placental Expression of Imprinted Genes, Overall and in Sex-Specific Patterns, Associated with Placental Cadmium Concentrations and Birth Size
Todd M. Everson, Carmen Marable, Maya A. Deyssenroth, Tracy Punshon, Brian P. Jackson, Luca Lambertini, Margaret R. Karagas, Jia Chen, Carmen J. Marsit
Environmental Health Perspectives.2019; 127(5): 057005.     CrossRef
Noninvasive prenatal testing detects microdeletion abnormalities of fetal chromosome 15
Lianli Yin, Yinghua Tang, Qing Lu, Mingfang Shi, Aiping Pan, Danyun Chen
Journal of Clinical Laboratory Analysis.2019;[Epub]     CrossRef
Epigenetic aberrations in human pluripotent stem cells
Shiran Bar, Nissim Benvenisty
The EMBO Journal.2019;[Epub]     CrossRef
MAGEL2 ‐related disorders: A study and case series
Jameson Patak, James Gilfert, Melissa Byler, Vamsee Neerukonda, Isabelle Thiffault, Laura Cross, Shivarajan Amudhavalli, Marta Pacio‐Miguez, Maria Palomares‐Bralo, Sixto Garcia‐Minaur, Fernando Santos‐Simarro, Zoe Powis, Wendy Alcaraz, Sha Tang, Julie Jur
Clinical Genetics.2019; 96(6): 493.     CrossRef
Genomic Data in the Electronic Health Record
Nephi A. Walton, Darren K. Johnson, Thomas N. Person, Srikar Chamala
Advances in Molecular Pathology.2019; 2(1): 21.     CrossRef
Genotype-Phenotype Relationships and Endocrine Findings in Prader-Willi Syndrome
Régis Afonso Costa, Igor Ribeiro Ferreira, Hiago Azevedo Cintra, Leonardo Henrique Ferreira Gomes, Letícia da Cunha Guida
Frontiers in Endocrinology.2019;[Epub]     CrossRef
Expanded Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(14;15): Report and Review of the Literature
Anastasios Xefteris, Eleni Sekerli, Antonia Arampatzi, Sofia Charisiou, Eirini Oikonomidou, Georgios Efstathiou, Nikolaos Peroulis, Aggeliki Malamidou, Eleni Tsoulou-Panidou, Eleni Agakidou, Kosmas Sarafidis, Antonios Psarakis, Thomas Kataras, Georgios Da
Cytogenetic and Genome Research.2019; 159(3): 109.     CrossRef
Nonclinical data supporting orphan medicinal product designations: lessons from rare neurological conditions
Maria E. Sheean, Violeta Stoyanova-Beninska, Giuseppe Capovilla, Dinah Duarte, Matthias P. Hofer, Michel Hoffmann, Armando Magrelli, Segundo Mariz, Stelios Tsigkos, Evyenia Shaili, Benedetta Polsinelli, Mario Ricciardi, Milton Bonelli, Pavel Balabanov, Kr
Drug Discovery Today.2018; 23(1): 26.     CrossRef
A genetic approach to evaluation of short stature of undetermined cause
Philip G Murray, Peter E Clayton, Steven D Chernausek
The Lancet Diabetes & Endocrinology.2018; 6(7): 564.     CrossRef
snRPN controls the ability of neurons to regenerate axons
Sonja Mertsch, Katrin Schlicht, Harutyun Melkonyan, Stefan Schlatt, Solon Thanos
Restorative Neurology and Neuroscience.2018; 36(1): 31.     CrossRef
First Case Report of Prader–Willi-Like Syndrome in Colombia
Estephania Candelo, Max M. Feinstein, Diana Ramirez-Montaño, Juan F. Gomez, Harry Pachajoa
Frontiers in Genetics.2018;[Epub]     CrossRef
Assisted Reproductive Technologies and imprinting disorders: Results of a study from a French congenital malformations registry
Audrey Uk, Sophie Collardeau-Frachon, Quentin Scanvion, Lucas Michon, Emmanuelle Amar
European Journal of Medical Genetics.2018; 61(9): 518.     CrossRef
Neurodevelopmental Disorders and Environmental Toxicants: Epigenetics as an Underlying Mechanism
Nguyen Quoc Vuong Tran, Kunio Miyake
International Journal of Genomics.2017; 2017: 1.     CrossRef
A systematic review of genetic syndromes with obesity
Y. Kaur, R. J. de Souza, W. T. Gibson, D. Meyre
Obesity Reviews.2017; 18(6): 603.     CrossRef
At-Home Transcranial Direct Current Stimulation in Prader-Willi Syndrome With Severe Intellectual Disability
Caroline Azevedo, July Silveira Gomes, Alisson Paulino Trevizol, Álvaro Machado Dias, Quirino Cordeiro
The Journal of ECT.2017; 33(3): e29.     CrossRef
Phylogenetic Analysis of the SNORD116 Locus
Matthew Kocher, Deborah Good
Genes.2017; 8(12): 358.     CrossRef