Human Genome Epidemiology Literature Finder
Records 1 - 10 (of 10 Records) |
Query Trace: Learning and NF1[original query] |
---|
Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. Journal of medical genetics 2010 Sep 47 (9): 623-30. Mautner V-F, Kluwe L, Friedrich R E, Roehl A C, Bammert S, Högel J, Spöri H, Cooper D N, Kehrer-Sawatzki |
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Human mutation 2010 Jun 31 (6): E1506-18. Pasmant Eric, Sabbagh Audrey, Spurlock Gill, Laurendeau Ingrid, Grillo Elisa, Hamel Marie-José, Martin Ludovic, Barbarot Sébastien, Leheup Bruno, Rodriguez Diana, Lacombe Didier, Dollfus Hélène, Pasquier Laurent, Isidor Bertrand, Ferkal Salah, Soulier Jean, Sanson Marc, Dieux-Coeslier Anne, Bièche Ivan, Parfait Béatrice, Vidaud Michel, Wolkenstein Pierre, Upadhyaya Meena, Vidaud Dominique, |
Absence of exon 17 c.2970-2872delAAT mutation in Turkish NF1 patients with mild phenotype. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2011 Dec 27 (12): 2113-6. Terzi Yunus Kasim, Sirin Burcu, Serdaroglu Esra, Anlar Banu, Aysun Sabiha, Hosgor Guzen, Arslan Elif Acar, Ayter Sukri |
Learning disability and oligodendrocyte myelin glycoprotein (OMGP) gene in neurofibromatosis type 1. The Turkish journal of pediatrics 0 53 (1): 75-8. Terzi Yunus Kasim, O?uzkan-Balci Sibel, Anlar Banu, Erdo?an-Bakar Emel, Ayter Sükri |
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations? Human genomics 2012 6 (1): 1. Alkindy A, Chuzhanova N, Kini U, Cooper DN, Upadhyaya M |
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 |
COMT Val(158)Met Polymorphism Is Associated with Verbal Working Memory in Neurofibromatosis Type 1. Frontiers in human neuroscience 2016 10 334. Costa Danielle de Souza, de Paula Jonas J, Alvim-Soares Antonio M, Pereira Patrícia A, Malloy-Diniz Leandro F, Rodrigues Luiz O C, Romano-Silva Marco A, de Miranda Débora |
Genetic inhibition of Anaplastic Lymphoma Kinase rescues cognitive impairments in Neurofibromatosis 1 mutant mice. Behavioural brain research 2017 1 321 148-156. Weiss Joseph B, Weber Sydney J, Torres Eileen Ruth S, Marzulla Tessa, Raber Jac |
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1. Orphanet journal of rare diseases 2019 11 14 (1): 261. Assunto Antonia, Ferrara Ursula, De Luca Alessandro, Pivonello Claudia, Lombardo Lisa, Piscitelli Annapina, Tortora Cristina, Pinna Valentina, Daniele Paola, Pivonello Rosario, Russo Maria Giovanna, Limongelli Giuseppe, Colao Annamaria, Tartaglia Marco, Strisciuglio Pietro, 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
- Page last updated:Apr 22, 2024
- Content source: