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Results for
""Noonan Syndrome""[mesh_terms]

16 Results

Searching titles within these results

Noonan syndrome on the African Continent.

Cedrik Tekendo-Ngongang, Paul Kruszka

Birth defects research 2021;112(10):718-724

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Management of nutritional and gastrointestinal issues in RASopathies: A narrative review.

Roberta Onesimo, Valentina Giorgio, Germana Viscogliosi, Elisabetta Sforza, Eliza Kuczynska, Gaia Margiotta, Mariella Iademarco, Francesco Proli, Donato Rigante, Giuseppe Zampino, Chiara Leoni

American journal of medical genetics. Part C, Seminars in medical genetics 2023;190(4):478-493

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Abstract

Lipid profile in Noonan syndrome and related disorders: trend by age, sex and genotype.

Federica Tamburrino, Laura Mazzanti, Emanuela Scarano, Dino Gibertoni, Maria Sirolli, Maximiliano Zioutas, Concetta Schiavariello, Annamaria Perri, Alessio Mantovani, Cesare Rossi, Marco Tartaglia, Andrea Pession

Frontiers in endocrinology 2023;14():1209339

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Coronary artery disease in adults with Noonan syndrome: Case series and literature review.

Reaksmei Ly, Gilles Soulat, Laurence Iserin, Magalie Ladouceur

Archives of cardiovascular diseases 2021;114(8-9):598-605

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Etiology of chest wall deformities--a genetic review for the treating physician.

Dieter Kotzot, Anton H Schwabegger

Journal of pediatric surgery 2009;44(10):2004-11

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The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.

Débora Bertola, Guilherme Yamamoto, Michelle Buscarilli, Alexander Jorge, Maria Rita Passos-Bueno, Chong Kim

American journal of medical genetics. Part A 2017;173(3):824-828

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Variants Cause Cardiomyocyte Hypertrophy in Patient-Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes: Additional Evidence for as a Definitive Noonan Syndrome-Susceptibility Gene.

Erin M Higgins, J Martijn Bos, Steven M Dotzler, C S John Kim, Michael J Ackerman

Circulation. Genomic and precision medicine 2020;12(11):e002648

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The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.

Frederike L Harms, Malik Alawi, David J Amor, Tiong Y Tan, Goran Cuturilo, Christina Lissewski, Julia Brinkmann, Denny Schanze, Kerstin Kutsche, Martin Zenker

American journal of medical genetics. Part A 2019;176(2):470-476

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A review of guidelines for use of growth hormone in pediatric and transition patients.

David M Cook, Susan R Rose

Pituitary 2013;15(3):301-10

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Differentiated Thyroid Cancer-Treatment: State of the Art.

Benedikt Schmidbauer, Karin Menhart, Dirk Hellwig, Jirka Grosse

International journal of molecular sciences 2018;18(6):1292

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Elucidation of -mediated Noonan syndrome with cardiac hypertrophy.

Erin M Higgins, J Martijn Bos, Heather Mason-Suares, David J Tester, Jaeger P Ackerman, Calum A MacRae, Katia Sol-Church, Karen W Gripp, Raul Urrutia, Michael J Ackerman

JCI insight 2019;2(5):e91225

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Induction of Noonan syndrome-specific human-induced pluripotent stem cells under serum-, feeder-, and integration-free conditions.

Atsuko Hamada, Eri Akagi, Fumitaka Obayashi, Sachiko Yamasaki, Koichi Koizumi, Manami Ohtaka, Ken Nishimura, Mahito Nakanishi, Shigeaki Toratani, Tetsuji Okamoto

In vitro cellular & developmental biology. Animal 2021;56(10):888-895

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Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.

Viviana Cordeddu, Jiani C Yin, Cecilia Gunnarsson, Carl Virtanen, Séverine Drunat, Francesca Lepri, Alessandro De Luca, Cesare Rossi, Andrea Ciolfi, Trevor J Pugh, Alessandro Bruselles, James R Priest, Len A Pennacchio, Zhibin Lu, Arnavaz Danesh, Rene Quevedo, Alaa Hamid, Simone Martinelli, Francesca Pantaleoni, Maria Gnazzo, Paola Daniele, Christina Lissewski, Gianfranco Bocchinfuso, Lorenzo Stella, Sylvie Odent, Nicole Philip, Laurence Faivre, Marketa Vlckova, Eva Seemanova, Cristina Digilio, Martin Zenker, Giuseppe Zampino, Alain Verloes, Bruno Dallapiccola, Amy E Roberts, Hélène Cavé, Bruce D Gelb, Benjamin G Neel, Marco Tartaglia

Human mutation 2016;36(11):1080-7

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Malignant hyperthermia, coexisting disorders, and enzymopathies: risks and management options.

Joan Benca, Kirk Hogan

Anesthesia and analgesia 2009;109(4):1049-53

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Inherited Disease Genetics Improves the Identification of Cancer-Associated Genes.

Boyang Zhao, Justin R Pritchard

PLoS genetics 2017;12(6):e1006081

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Results: 1 – 15 / 16

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Results for ""Noonan Syndrome""[mesh_terms]

Noonan syndrome on the African Continent.

Management of nutritional and gastrointestinal issues in RASopathies: A narrative review.

Lipid profile in Noonan syndrome and related disorders: trend by age, sex and genotype.

Coronary artery disease in adults with Noonan syndrome: Case series and literature review.

Etiology of chest wall deformities--a genetic review for the treating physician.

The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.

Variants Cause Cardiomyocyte Hypertrophy in Patient-Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes: Additional Evidence for as a Definitive Noonan Syndrome-Susceptibility Gene.

The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.

A review of guidelines for use of growth hormone in pediatric and transition patients.

Differentiated Thyroid Cancer-Treatment: State of the Art.

Elucidation of -mediated Noonan syndrome with cardiac hypertrophy.

Induction of Noonan syndrome-specific human-induced pluripotent stem cells under serum-, feeder-, and integration-free conditions.

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.

Malignant hyperthermia, coexisting disorders, and enzymopathies: risks and management options.

Inherited Disease Genetics Improves the Identification of Cancer-Associated Genes.

Results for
""Noonan Syndrome""[mesh_terms]