Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Noonan Syndrome and NF1[original query] |
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NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. American journal of human genetics 2005 Dec 77 (6): 1092-101. De Luca Alessandro, Bottillo Irene, Sarkozy Anna, Carta Claudio, Neri Cinzia, Bellacchio Emanuele, Schirinzi Annalisa, Conti Emanuela, Zampino Giuseppe, Battaglia Agatino, Majore Silvia, Rinaldi Maria M, Carella Massimo, Marino Bruno, Pizzuti Antonio, Digilio Maria Cristina, Tartaglia Marco, Dallapiccola Bru |
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. Genetic testing 2006 10 (3): 186-91. Bertola Débora R, Pereira Alexandre C, Albano Lílian Maria José, De Oliveira Paulo S L, Kim Chong A, Krieger José Eduar |
Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proceedings of the National Academy of Sciences of the United States of America 2014 Aug 111 (31): 11473-8. Chen Peng-Chieh, Yin Jiani, Yu Hui-Wen, Yuan Tao, Fernandez Minerva, Yung Christina K, Trinh Quang M, Peltekova Vanya D, Reid Jeffrey G, Tworog-Dube Erica, Morgan Margaret B, Muzny Donna M, Stein Lincoln, McPherson John D, Roberts Amy E, Gibbs Richard A, Neel Benjamin G, Kucherlapati Ra |
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. Human mutation 2015 Jul . Rojnueangnit Kitiwan, Xie Jing, Gomes Alicia, Sharp Angela, Callens Tom, Chen Yunjia, Liu Ying, Cochran Meagan, Abbott Mary-Alice, Atkin Joan, Babovic-Vuksanovic Dusica, Barnett Christopher P, Crenshaw Melissa, Bartholomew Dennis W, Basel Lina, Bellus Gary, Ben-Shachar Shay, Bialer Martin G, Bick David, Blumberg Bruce, Cortes Fanny, David Karen L, Destree Anne, Duat-Rodriguez Anna, Earl Dawn, Escobar Luis, Eswara Marthanda, Ezquieta Begona, Frayling Ian M, Frydman Moshe, Gardner Kathy, Gripp Karen W, Hernández-Chico Concepcion, Heyrman Kurt, Ibrahim Jennifer, Janssens Sandra, Keena Beth A, Llano-Rivas Isabel, Leppig Kathy, McDonald Marie, Misra Vinod K, Mulbury Jennifer, Narayanan Vinodh, Orenstein Naama, Galvin-Parton Patricia, Pedro Helio, Pivnick Eniko K, Powell Cynthia M, Randolph Linda, Raskin Salmo, Rosell Jordi, Rubin Karol, Seashore Margretta, Schaaf Christian P, Scheuerle Angela, Schultz Meredith, Schorry Elizabeth, Schnur Rhonda, Siqveland Elizabeth, Tkachuk Amanda, Tonsgard James, Upadhyaya Meena, Verma Ishwar C, Wallace Stephanie, Williams Charles, Zackai Elaine, Zonana Jonathan, Lazaro Conxi, Claes Kathleen, Korf Bruce, Martin Yolanda, Legius Eric, Messiaen Ludwi |
New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations. Annals of human genetics 2015 Nov . ?izmárová M, Hlinková K, Bertok S, Kotnik P, Duba H C, Bertalan R, Polo?ková K, Koš?álová ?, Pribilincová Z, Hlavatá A, Kovács L, Ilen?íková |
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease. Genes 2019 Sep 10 (9): . Pinna Valentina, Daniele Paola, Calcagni Giulio, Mariniello Lucio, Criscione Roberta, Giardina Chiara, Lepri Francesca Romana, Hozhabri Hossein, Alberico Angela, Cavone Stefania, Morella Annunziata Tina, Mandile Roberta, Annunziata Francesca, Di Giosaffatte Niccolò, D'Asdia Maria Cecilia, Versacci Paolo, Capolino Rossella, Strisciuglio Pietro, Giustini Sandra, Melis Daniela, Digilio Maria Cristina, Tartaglia Marco, Marino Bruno, De Luca Alessand |
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 |
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 |
- Page last reviewed:Feb 1, 2024
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