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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Pulmonary Valve Stenosis and PTPN11[original query]
Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.
The Journal of clinical endocrinology and metabolism 2004 Jul 89 (7): 3359-64.
Yoshida Rie, Hasegawa Tomonobu, Hasegawa Yukihiro, Nagai Toshiro, Kinoshita Eiichi, Tanaka Yoko, Kanegane Hirokazu, Ohyama Kenji, Onishi Toshikazu, Hanew Kunihiko, Okuyama Torayuki, Horikawa Reiko, Tanaka Toshiaki, Ogata Tsuto
The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene.
Pediatrics 2007 Jun 119 (6): e1325-31.
Sznajer Yves, Keren Boris, Baumann Clarisse, Pereira Sabrina, Alberti Corinne, Elion Jacques, Cavé Hélène, Verloes Ala
PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.
Genetic testing and molecular biomarkers 2010 Jun 14 (3): 425-32.
Brasil Amanda Salem, Pereira Alexandre C, Wanderley Luciana Turolla, Kim Chong Ae, Malaquias Alexsandra C, Jorge Alexander A L, Krieger José Eduardo, Bertola Débora Rom
Noonan Syndrome in South Africa: Clinical and Molecular Profiles.
Frontiers in genetics 2019 5 10 333.
Tekendo-Ngongang Cedrik, Agenbag Gloudi, Bope Christian Domilongo, Esterhuizen Alina Izabela, Wonkam Ambroi
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
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