Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 110 Records) |
| Query Trace: Noonan Syndrome[original query] |
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| Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications. European journal of human genetics : EJHG 2020 8 29 (1): 51-60. Lissewski Christina, Chune Valérie, Pantaleoni Francesca, De Luca Alessandro, Capri Yline, Brinkmann Julia, Lepri Francesca, Daniele Paola, Leenders Erika, Mazzanti Laura, Scarano Emanuela, Radio Francesca Clementina, Kutsche Kerstin, Kuechler Alma, Gérard Marion, Ranguin Kara, Legendre Marine, Vial Yoann, van der Burgt Ineke, Rinne Tuula, Andreucci Elena, Mastromoro Gioia, Digilio Maria Cristina, Cave Hélène, Tartaglia Marco, Zenker Mart |
| Low bone mass in Noonan syndrome children correlates with decreased muscle mass and low IGF-1 levels. Bone 2021 9 153 116170. Delagrange Marine, Rousseau Vanessa, Cessans Catie, Pienkowski Catherine, Oliver Isabelle, Jouret Béatrice, Cartault Audrey, Diene Gwenaelle, Tauber Maithé, Salles Jean-Pierre, Yart Armelle, Edouard Thom |
| Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings. Clinical genetics 2021 8 100 (5): 563-572. D'Amico Alessandra, Rosano Carmen, Pannone Luca, Pinna Valentina, Assunto Antonia, Motta Marialetizia, Ugga Lorenzo, Daniele Paola, Mandile Roberta, Mariniello Lucio, Siano Maria Anna, Santoro Claudia, Piluso Giulio, Martinelli Simone, Strisciuglio Pietro, De Luca Alessandro, Tartaglia Marco, Melis Danie |
| Noonan syndrome-like phenotype in a patient with heterozygous ERF truncating variant. Congenital anomalies 2021 6 61 (6): 226-230. Yamada Mamiko, Funato Michinori, Kondo Goro, Suzuki Hisato, Uehara Tomoko, Takenouchi Toshiki, Sakamoto Yoshiaki, Kosaki Kenji |
| Juvenile xanthogranuloma in Noonan syndrome. American journal of medical genetics. Part A 2021 5 185 (10): 3048-3052. Ali Marwan M, Gilliam Amy E, Ruben Beth S, Tidyman William E, Rauen Katherine |
| RASopathies and hemostatic abnormalities: key role of platelet dysfunction. Orphanet journal of rare diseases 2021 12 16 (1): 499. Di Candia Francesca, Marchetti Valeria, Cirillo Ferdinando, Di Minno Alessandro, Rosano Carmen, Pagano Stefano, Siano Maria Anna, Falco Mariateresa, Assunto Antonia, Boccia Giovanni, Magliacane Gerardo, Pinna Valentina, De Luca Alessandro, Tartaglia Marco, Di Minno Giovanni, Strisciuglio Pietro, Melis Danie |
| How Far Should We Explore Hypospadias? Next-generation Sequencing Applied to a Large Cohort of Hypospadiac Patients. European urology 2021 1 79 (4): 507-515. Ea Vuthy, Bergougnoux Anne, Philibert Pascal, Servant-Fauconnet Nadège, Faure Alice, Breaud Jean, Gaspari Laura, Sultan Charles, Paris Françoise, Kalfa Nicol |
| Mutation and Phenotypic Spectrum of Patients With RASopathies. Indian pediatrics 2021 1 58 (1): 30-33. Lallar Meenakshi, Bijarnia-Mahay Sunita, Verma I C, Mandal Kaushik, Puri Ratna D |
| Noonan syndrome associated with hypoplastic left heart syndrome. Cardiology in the young 2022 8 1-3. Lawrence Kendall M, Burstein Danielle S, Ahrens-Nicklas Rebecca, Gaynor J William, Nuri Muhammad |
| Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis. Circulation. Genomic and precision medicine 2022 6 15 (4): e003635. Weaver K Nicole, Chen Jing, Shikany Amy, White Pete S, Prada Carlos E, Gelb Bruce D, Cnota James F, |
| The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations. Human mutation 2022 6 43 (10): 1377-1395. van Woerden Geeske M, Senden Richelle, de Konink Charlotte, Trezza Rossella A, Baban Anwar, Bassetti Jennifer A, van Bever Yolande, Bird Lynne M, van Bon Bregje W, Brooks Alice S, Guan Qiaoning, Klee Eric W, Marcelis Carlo, Rosado Joel M, Schimmenti Lisa A, Shikany Amy R, Terhal Paulien A, Nicole Weaver Kathryn, Wessels Marja W, van Wieringen Hester, Hurst Anna C, Gooch Catherine F, Steindl Katharina, Joset Pascal, Rauch Anita, Tartaglia Marco, Niceta Marcello, Elgersma Ype, Demirdas Serw |
| Epilepsy in a cohort of children with Noonan syndrome and related disorders. European journal of pediatrics 2022 5 181 (8): 2919-2926. Davico Chiara, D'Alessandro Rossella, Borgogno Marta, Campagna Filippa, Torta Francesca, Ricci Federica, Amianto Federico, Vittorini Roberta, Carli Diana, Mussa Alessandro, Vitiello Benedetto, Ferrero Giovanni Battis |
| In-Silico and In-Vitro Analysis of Human SOS1 Protein Causing Noonan Syndrome - A Novel Approach to Explore the Molecular Pathways. Current genomics 2022 4 22 (7): 526-540. Sigamani Vinoth, Rajasingh Sheeja, Gurusamy Narasimman, Panda Arunima, Rajasingh Johns |
| Outcomes in growth hormone-treated Noonan syndrome children: impact of PTPN11 mutation status. Endocrine connections 2022 3 11 (4): . Jorge Alexander A L, Edouard Thomas, Maghnie Mohamad, Pietropoli Alberto, Kelepouris Nicky, Romano Alicia, Zenker Martin, Horikawa Rei |
| [The clinical phenotype and gene analysis of syndromic deafness with PTPN11 gene mutation]. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2022 3 57 (3): 317-323. Gao Y, Li Z C, Ma X L, Gao Y Q, Xiao Y, Dai X, Ma |
| Delayed Puberty Phenotype Observed in Noonan Syndrome Is More Pronounced in Girls than Boys. Hormone research in paediatrics 2022 2 95 (1): 51-61. Rezende Raissa C, Noronha Renata Maria, Keselman Ana, Quedas Elisangela P S, Dantas Naiara C B, Andrade Nathalia L M, Bertola Debora R, Malaquias Alexsandra C, Jorge Alexander A |
| New insights on Noonan syndrome's clinical phenotype: a single center retrospective study. BMC pediatrics 2022 12 22 (1): 734. Baldo Francesco, Fachin Alice, Da Re Beatrice, Rubinato Elisa, Bobbo Marco, Barbi Egid |
| Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height. Frontiers in endocrinology 2022 1 12 761171. Libraro Annachiara, D'Ascanio Vito, Cappa Marco, Chiarito Mariangela, Digilio Maria Cristina, Einaudi Silvia, Grandone Anna, Maghnie Mohamad, Mazzanti Laura, Mussa Alessandro, Patti Giuseppa, Scarano Emanuela, Spinuzza Antonietta, Vannelli Silvia, Wasniewska Malgorzata Gabriela, Ferrero Giovanni Battista, Faienza Maria Felic |
| Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients. European journal of pediatrics 2022 Oct 181 (10): 3691-3700. Papadopoulos George, Papadopoulou Anna, Kosma Konstantina, Papadimitriou Anastasios, Papaevangelou Vassiliki, Kanaka-Gantenbein Christina, Bountouvi Evangelia, Kitsiou-Tzeli Soph |
| Cognitive Phenotype and Psychopathology in Noonan Syndrome Spectrum Disorders through Various Ras/MAPK Pathway Associated Gene Variants. Journal of clinical medicine 2022 Aug 11 (16): . Wingbermühle Ellen, Roelofs Renée L, Oomens Wouter, Kramer Jennifer, Draaisma Jos M T, Leenders Erika, Kleefstra Tjitske, Kessels Roy P C, Egger Jos I |
| Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment. Journal of clinical medicine 2023 8 12 (15): . Atilano Carcavilla, Ana Cambra, José L Santomé, Verónica Seidel, Jaime Cruz, Milagros Alonso, Jesús Pozo, Irene Valenzuela, Encarna Guillén-Navarro, Fernando Santos-Simarro, Isabel González-Casado, Amparo Rodríguez, Constancio Medrano, Juan Pedro López-Siguero, Begoña Ezquie |
| Lessons From a Genotype-Phenotype Study About the Clinical Spectrum of Hypertrophic Cardiomyopathy Associated With Noonan Syndrome With Multiple Lentigines and PTPN11-Mutations. Circulation. Genomic and precision medicine 2023 6 e004206. Ingegerd Östman-Smi |
| RAF1 mutation leading to hypertrophic cardiomyopathy in a Chinese family with a history of sudden cardiac death: A diagnostic insight into Noonan syndrome. Molecular genetics & genomic medicine 2023 10 e2290. Jingjing Zheng, Longyun Peng, Ruofei Cheng, Zhiyan Li, Jianjie Xie, Erwen Huang, Jianding Cheng, Qianhao Zh |
| Low vitamin C status and hypermobility-related disorders in patients with bleeding disorder of unknown cause. Haemophilia : the official journal of the World Federation of Hemophilia 2024 9 . Eva Leinøe, Halla Fridriksdottir, Andreas Ørslev Rasmussen, Eva Funding, Anne Louise Tølbøll Sørensen, Peter Kampmann, Jens Lykkesfeldt, Maria Rossi |
| Noonan syndrome and Noonan-like syndrome with loose anagen hair: rare phenotypes may emerge during follow-up. Translational pediatrics 2024 8 13 (7): 1161-1168. Ziqin Liu, Jianming Lai, Fuying So |
| Noonan Syndrome Growth Charts and Genotypes: 15-year Longitudinal Single-centre Study. Hormone research in paediatrics 2024 7 . Marco Cappa, Francesco d'Aniello, Maria Cristina Digilio, Maria Giulia Gagliardi, Chiara Minotti, Pier Paolo Leoncini, Alberto Pietropoli, Antonio Nicolucci, Giusi Graziano, Graziamaria Uberti |
| Coronary arteriopathy in a patient with Noonan phenotype: Case report. Annals of pediatric cardiology 2024 6 17 (1): 70-73. Simran Jain, M S Ravindra, Yogesh Chintaman Sathe, Snehal M Kulkarni, Ashish Banpurk |
| Left ventricular posterior wall hypertrophy leads to poor prognosis of hypertrophic obstructive cardiomyopathy in children - a cohort study. International journal of surgery (London, England) 2024 6 . Shun Liu, Xiumeng Hua, Yiqi Zhao, Han Mo, Xiao Chen, Weiteng Wang, Yijing Li, Qian Zhao, Jun Yan, Jiangping So |
| Genetic backgrounds and genotype-phenotype relationships in anthropometric parameters of 116 Japanese individuals with Noonan syndrome. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2024 4 33 (2): 50-58. Yasuko Shoji, Ayaha Hata, Takatoshi Maeyama, Tamaki Wada, Yuiko Hasegawa, Eriko Nishi, Shinobu Ida, Yuri Etani, Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto, Masanobu Kaw |
| Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy. ESC heart failure 2024 1 . Olga Boleti, Gabrielle Norrish, Ella Field, Kathleen Dady, Kim Summers, Gauri Nepali, Vinay Bhole, Orhan Uzun, Amos Wong, Piers E F Daubeney, Graham Stuart, Precylia Fernandes, Karen McLeod, Maria Ilina, Muhammad Najih Liaqath Ali, Tara Bharucha, Grazia Delle Donne, Elspeth Brown, Katie Linter, Caroline B Jones, Jonathan Searle, William Regan, Sujeev Mathur, Nicola Boyd, Zdenka Reinhardt, Sophie Duignan, Terence Prendiville, Satish Adwani, Juan Pablo Kas |
- Page last reviewed:Feb 1, 2024
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