Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation

Autor: Tuula Rinne, Kees Noordam, Jos M. T. Draaisma, Ineke van der Burgt, Dorothée C. van Trier

Publikováno v: American Journal of Medical Genetics. Part A, 173, 2968-2972
American Journal of Medical Genetics. Part A, 173, 11, pp. 2968-2972

Contains fulltext : 182936.pdf (Publisher’s version ) (Closed access) Noonan syndrome (NS) is an autosomal dominant multisystem condition with a variable phenotype. The most characteristic features are short stature, congenital heart defects, and r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a544f3e5b33126136827389316478ef
https://doi.org/10.1002/ajmg.a.38466

Benign course after acute high dose levothyroxine intoxication in a 3-year-old boy

Autor: Kees Noordam, Machiel Maseland, Stan J. F. Hartman, Petra van Setten

Publikováno v: ResearcherID
Clinical Pediatric Endocrinology
Clinical Pediatric Endocrinology, 26, 171-175
Clinical Pediatric Endocrinology, 26, 3, pp. 171-175

Acute ingestion of thyroid hormone preparations is a common intoxication, with 181 cases in children 0.1 g/kg, a short interval since ingestion, symptomatic presentation, and/or a fT4 >100 pmol/l should be monitored in the hospital during at least 48

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b47ec30d5e6ee472995cffd79513500f
https://doi.org/10.1297/cpe.26.171

3 Groei en ontwikkeling

Autor: Erik A. K. Wauters, Kees Noordam

Publikováno v: Kinderfysiotherapie ISBN: 9789036815918
Kinderfysiotherapie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::67be5a474d69dca52be19be7f1e285dd
https://doi.org/10.1007/978-90-368-1592-5_6

Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G > A(Arg366His) mutation

Autor: Alex J. Eggink, Ineke van der Burgt, Bregje W.M. van Bon, T.A.J. Antonius, Arno van Heijst, Kees Noordam

Publikováno v: American Journal of Medical Genetics. Part A, 146A, 496-9
American Journal of Medical Genetics. Part A, 146A, 4, pp. 496-9

Contains fulltext : 69748.pdf (Publisher’s version ) (Closed access) Congenital diaphragmatic hernia (CDH) is a disorder of the development of the lung and diaphragm and is associated with pulmonary hypoplasia and pulmonary hypertension. Denys-Dras

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4a54fefc68e651aa8771216e7696287
https://hdl.handle.net/2066/69748

Genotypic and phenotypic characterization of Noonan syndrome

Autor: Marco Tartaglia, Willy M. Nillesen, Michael A. Patton, Esther M. Maier, Ineke van der Burgt, Erik A. Sistermans, Kees Noordam, Marjolijn C.J. Jongmans, Rienk Y. J. Tamminga, Alwin Rikken

Publikováno v: Jongmans, M, Sistermans, E A, Rikken, A, Nillesen, W M, Tamminga, R, Patton, M, Maier, E M, Tartaglia, M, Noordam, K & Van Der Burgt, I 2005, ' Genotypic and phenotypic characterization of Noonan syndrome : New data and review of the literature ', American Journal of Medical Genetics, vol. 134 A, no. 2, pp. 165-170 . https://doi.org/10.1002/ajmg.a.30598

Noonan syndrome (NS) is an autosomal dominant disorder, characterized by short stature, minor facial anomalies, and congenital heart defects. In approximately 50% of cases the condition is caused by missense mutations in the PTPN11 gene on chromosome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1399af0fdd4d4c16013646a24ceefee9
https://hdl.handle.net/11370/c550fe6f-7c36-4bc8-9885-03cfbbd128d4