Works matching Noonan syndrome

Results: 1368

Noonan-szindróma családi halmozódása.

Published in:

Gyermekgyógyászat, 2022, v. 73, n. 4, p. 308

By:

Tamás, Niederland

Publication type:

Article

Feeding Problems in Patients with Noonan Syndrome: A Narrative Review.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 3, p. 754, doi. 10.3390/jcm11030754

By:

Tiemens, Dagmar K.;
van Haaften, Leenke;
Leenders, Erika;
van Wegberg, Annemiek M. J.;
Gunther Moor, Bregtje;
Geelen, Joyce;
Draaisma, Jos M. T.

Publication type:

Article

努南综合征的生长发育规律与身材矮小的临床治疗进展.

Published in:

2025

By:

李辛;
温湉;
冯碧云;
王秀敏

Publication type:

Literature Review

Observation and Management of Juvenile Myelomonocytic Leukemia and Noonan Syndrome-Associated Myeloproliferative Disorder: A Real-World Experience †.

Published in:

Cancers, 2024, v. 16, n. 15, p. 2749, doi. 10.3390/cancers16152749

By:

Lucas, Bryony J.;
Connors, Jeremy S.;
Wang, Heping;
Conneely, Shannon;
Cuglievan, Branko;
Garcia, Miriam B.;
Rau, Rachel E.

Publication type:

Article

Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 1, p. 96, doi. 10.4274/jcrpe.2070

By:

Vurallı, Doğuş;
Gönç, Nazlı;
Vidaud, Dominique;
Özön, Alev;
Alikaşifoğlu, Ayfer;
Kandemir, Nurgün

Publication type:

Article

Efficacy of Sirolimus in Treating Refractory Lymphatic Malformation in Noonan Syndrome: A Case Study Open Access.

Published in:

JCEM Case Reports, 2025, v. 3, n. 6, p. 1, doi. 10.1210/jcemcr/luaf088

By:

Nakajima, Yuka;
Watanabe, Yoh;
Iwata, Kohei;
Yamada, Yuki;
Higuchi, Shinji;
Mori, Jun

Publication type:

Article

Endoscopic Mitral Surgery in Noonan Syndrome—Case Report and Considerations.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 2, p. 583, doi. 10.3390/jcm14020583

By:

Harpa, Marius Mihai;
Anitei, Emanuel-David;
Ghiragosian, Claudiu;
Calburean, Paul;
Opris, Diana Roxana;
Banceu, Marian Cosmin;
Arbanasi, Emil Marian;
Suciu, Horatiu;
Al Hussein, Hussam

Publication type:

Article

Prenatal Sonographic Features of Noonan Syndrome: Case Series and Literature Review.

Published in:

2024

By:

Tangshewinsirikul, Chayada;
Wattanasirichaigoon, Duangrurdee;
Tim-Aroon, Thipwimol;
Promsonthi, Patama;
Katanyuwong, Poomiporn;
Diawtipsukon, Sanpon;
Chansriniyom, Nareenun;
Tongsong, Theera

Publication type:

Case Study

Growth, Endocrine Features, and Growth Hormone Treatment in Noonan Syndrome.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 7, p. 2034, doi. 10.3390/jcm11072034

By:

Dahlgren, Jovanna;
Noordam, Cees

Publication type:

Article

A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation.

Published in:

Genetics Research, 2019, v. 101, p. N.PAG, doi. 10.1017/S0016672319000041

By:

Jaouadi, Hager;
Chehida, Amel Ben;
Kraoua, Lilia;
Etchevers, Heather C.;
Argiro, Laurent;
Kasdallah, Nadia;
Blibech, Sonia;
Delague, Valérie;
Lévy, Nicolas;
Tebib, Néji;
Mrad, Ridha;
Abdelhak, Sonia;
Benkhalifa, Rym;
Zaffran, Stéphane

Publication type:

Article

Multiple Unerupted Permanent Teeth Associated with Noonan Syndrome.

Published in:

2015

By:

Uloopi, K. S.;
Madhuri, V.;
Gopal, A. S.;
Vinay, C.;
Chandrasekhar, R.

Publication type:

Case Study

Molecular and environmental characterization of Noonan syndrome in Morocco reveals a significant association with consanguinity and advanced parental age.

Published in:

Egyptian Journal of Medical Human Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s43042-020-0047-9

By:

El Bouchikhi, Ihssane;
Bouguenouch, Laila;
Moufid, Fatima Zohra;
Samri, Imane;
Abdouss, Fatima;
Melhouf, Moulay Abdelilah;
Iraqui Houssaini, Mohammed;
Belhassan, Khadija;
Atmani, Samir;
Ouldim, Karim

Publication type:

Article

Severe thrombocytopenia and intracranial hemorrhage in a newborn with Noonan syndrome and neonatal alloimmune thrombocytopenia.

Published in:

2022

By:

Carter, Rebecca;
Niemi, Anna-Kaisa

Publication type:

Case Study

The first PTPN11 mutations in hotspot exons reported in Moroccan children with Noonan syndrome and comparison of mutation rate to previous studies.

Published in:

Turkish Journal of Medical Sciences, 2015, v. 45, n. 2, p. 306, doi. 10.3906/sag-1310-50

By:

EL BOUCHIKHI, Ihssane;
SAMRI, Imane;
IRAQUI HOUSSAINI, Mohammed;
TRHANINT, Saaid;
BOUGUENOUCH, Laila;
SAYEL, Hanane;
HIDA, Moustapha;
ATMANI, Samir;
OULDIM, Karim

Publication type:

Article

Multimodality lymphatic imaging of postoperative chylothorax in an infant with Noonan syndrome: a case report.

Published in:

European Journal of Medical Research, 2020, v. 25, n. 1, p. N.PAG, doi. 10.1186/s40001-020-00455-w

By:

Pham, Kay T.;
Balaguru, Duraisamy;
Tammisetti, Varaha S.;
Guevara, Carlos J.;
Rasmussen, John C.;
Zvavanjanja, Rodrick C.;
Hanfland, Robert;
Sevick-Muraca, Eva M.;
Aldrich, Melissa B.

Publication type:

Article

Eosinophilic gastroenteritis in a 14-year-old patient with Noonan syndrome with a PTPN11 variation: a case report.

Published in:

Journal of Medical Case Reports, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s13256-025-05344-6

By:

Koga, Nobuhiko;
Yatsuga, Shuichi;
Kubota, Kei;
Niimi, Toshikazu;
Inoue, Takahito;
Nagamitsu, Shinichiro

Publication type:

Article

Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2‐related disorders.

Published in:

Clinical Genetics, 2021, v. 99, n. 3, p. 457, doi. 10.1111/cge.13904

By:

Lorca, Rebeca;
Pannone, Luca;
Cuesta‐Llavona, Elías;
Bocchinfuso, Gianfranco;
Rodríguez‐Reguero, Julian;
Carpentieri, Giovanna;
Hernando, Inés;
Flex, Elisabetta;
Tartaglia, Marco;
Coto, Eliecer;
Gómez, Juan;
Martinelli, Simone

Publication type:

Article

Malignancy in Noonan syndrome and related disorders.

Published in:

Clinical Genetics, 2015, v. 88, n. 6, p. 516, doi. 10.1111/cge.12568

By:

Smpokou, P.;
Zand, D.J.;
Rosenbaum, K.N.;
Summar, M.L.

Publication type:

Article

Enoxaparin dosing in Noonan syndrome: a case report.

Published in:

Journal of Pharmacy Practice & Research, 2020, v. 50, n. 3, p. 255, doi. 10.1002/jppr.1594

By:

Tran, Van N.;
Tey, Ai Xin N.

Publication type:

Article

A Novel Description of Immunodeficiency and Immune Dysregulation in a 14-Year-Old Girl with Noonan Syndrome 13.

Published in:

Journal of Clinical Immunology, 2025, v. 45, n. 1, p. 1, doi. 10.1007/s10875-025-01881-3

By:

Tabassum, Saira;
Grün, Sarah;
Molloy, Ben;
Jones, Eppie;
Buckley, Patrick G.;
Amet, Rebecca;
McElligott, Anthony M.;
Doherty, Derek G.;
Ehl, Stephan;
Leahy, Timothy Ronan

Publication type:

Article

The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02818-y

By:

Tiemens, Dagmar K.;
Kleimeier, Lotte;
Leenders, Erika;
Wingbermühle, Ellen;
Roelofs, Renee L.;
Sibbles, Barbara;
Oostwegel, Floor S.M.;
Vroonland, Eva;
van Leeuwen, Conny;
Niessen, Hanneke;
Sonnega, Paul;
Duursma, Anniek;
Willemsen, Michel A. A. P.;
Draaisma, Jos M. T.;
Pittens, Carina A.C.M.

Publication type:

Article

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome.

Published in:

2018

By:

Ghedira, Nehla;
Lagarde, Arnaud;
Ben Ameur, Karim;
Elouej, Sahar;
Sakka, Rania;
Kerkeni, Emna;
Chioukh, Fatma-Zohra;
Olschwang, Sylviane;
Desvignes, Jean-Pierre;
Abdelhak, Sonia;
Delague, Valerie;
Lévy, Nicolas;
Monastiri, Kamel;
De Sandre-Giovannoli, Annachiara

Publication type:

journal article

Noonan syndrome‐like phenotype in a patient with heterozygous ERF truncating variant.

Published in:

Congenital Anomalies, 2021, v. 61, n. 6, p. 226, doi. 10.1111/cga.12435

By:

Yamada, Mamiko;
Funato, Michinori;
Kondo, Goro;
Suzuki, Hisato;
Uehara, Tomoko;
Takenouchi, Toshiki;
Sakamoto, Yoshiaki;
Kosaki, Kenjiro

Publication type:

Article

Imaging of central lymphatic abnormalities in Noonan syndrome.

Published in:

2019

By:

Biko, David M.;
Reisen, Breanne;
Otero, Hansel J.;
Ravishankar, Chitra;
Victoria, Teresa;
Glatz, Andrew C.;
Rome, Jonathan J.;
Dori, Yoav

Publication type:

journal article

Multifocal tenosynovial giant cell tumors in a child with Noonan syndrome.

Published in:

2017

By:

Meyers, Arthur;
Awomolo, Agboola;
Szabo, Sara;
Meyers, Arthur B;
Awomolo, Agboola O

Publication type:

journal article

Development of bilateral coronary artery aneurysms in a child with Noonan syndrome.

Published in:

2016

By:

Mauro, David;
Flors, Lucia;
Hoyer, Andrew;
Norton, Patrick;
Hagspiel, Klaus;
Mauro, David M;
Hoyer, Andrew W;
Norton, Patrick T;
Hagspiel, Klaus D

Publication type:

journal article

Targeted Molecular Sequencing Revealed Allelic Heterogeneity of BRAF and PTPN11 Genes among Arab Noonan Syndrome Patients.

Published in:

Russian Journal of Genetics, 2018, v. 54, n. 8, p. 975, doi. 10.1134/S1022795418080033

By:

Al-Aama, J. Y.;
Banaganapalli, B.;
Aljeaid, D.;
Bakhur, K.;
Verma, P. K.;
Al-Ata, J.;
Elango, R.;
Shaik, N. A.

Publication type:

Article

Recurrent labial xanthoma infection in a patient with Neurofibromatosis-Noonan syndrome: case report and literature review.

Published in:

2022

By:

Dussueil, Pauline;
Sergent, Jean-François;
Veyssière, Alexis;
Benateau, Hervé

Publication type:

Case Study

Molecular characterization of gliomas and glioneuronal tumors amid Noonan syndrome: cancer predisposition examined.

Published in:

Frontiers in Oncology, 2024, p. 1, doi. 10.3389/fonc.2024.1453309

By:

Shatara, Margaret;
Schieffer, Kathleen M.;
Melas, Marilena;
Varga, Elizabeth A.;
Thomas, Diana;
Bucknor, Brianna A.;
Costello, Heather M.;
Wheeler, Gregory;
Kelly, Benjamin J.;
Miller, Katherine E.;
Rodriguez, Diana P.;
Mathew, Mariam T.;
Lee, Kristy;
Crotty, Erin;
Leary, Sarah;
Paulson, Vera A.;
Cole, Bonnie;
Abdelbaki, Mohamed S.;
Finlay, Jonathan L.;
Lazow, Margot A.

Publication type:

Article

Novel therapeutic perspectives in Noonan syndrome and RASopathies.

Published in:

European Journal of Pediatrics, 2024, v. 183, n. 3, p. 1011, doi. 10.1007/s00431-023-05263-y

By:

Saint-Laurent, Céline;
Mazeyrie, Laurène;
Yart, Armelle;
Edouard, Thomas

Publication type:

Article

Hypertrophic neuropathy: a possible cause of pain in children with Noonan syndrome and related disorders.

Published in:

European Journal of Pediatrics, 2023, v. 182, n. 8, p. 3789, doi. 10.1007/s00431-023-05045-6

By:

Draaisma, Fieke;
Erasmus, Corrie E.;
Braakman, Hilde M. H.;
Burgers, Melanie C. J.;
Leenders, Erika K. S. M.;
Rinne, Tuula;
van Alfen, Nens;
Draaisma, Jos M. T.

Publication type:

Article

Young children with Noonan syndrome: evaluation of feeding problems.

Published in:

2020

By:

Draaisma, Jos M. T.;
Drossaers, Joris;
van den Engel-Hoek, Lenie;
Leenders, Erika;
Geelen, Joyce

Publication type:

journal article

Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients.

Published in:

2018

By:

van Trier, Dorothée C.;
van der Burgt, Ineke;
Draaijer, Renske W.;
Cruysberg, Johannes R. M.;
Noordam, Cees;
Draaisma, Jos M.

Publication type:

journal article

The Efficacy and Safety of Growth Hormone Therapy in Children with Noonan Syndrome: A Review of the Evidence.

Published in:

Hormone Research in Paediatrics, 2015, v. 83, n. 3, p. 157, doi. 10.1159/000369012

By:

Noonan, Jacqueline a.;
Kappelgaard, anne-Marie

Publication type:

Article

The Impact of Growth Hormone Therapy on Adult Height in Noonan Syndrome: A Systematic Review.

Published in:

Hormone Research in Paediatrics, 2015, v. 83, n. 3, p. 167, doi. 10.1159/000371635

By:

Giacomozzi, Claudio;
Deodati, annalisa;
Shaikh, Mohamad Guftar;
ahmed, Syed Faisal;
Cianfarani, Stefano

Publication type:

Article

Anesthetic considerations and difficult airway management in a case of Noonan syndrome.

Published in:

2011

By:

Bajwa, Sukhminder Jit Singh;
Gupta, Sachin;
Kaur, Jasbir;
Panda, Aparajita;
Bajwa, Sukhwinder Kaur;
Singh, Amarjit;
Parmar, S. S.;
Prasad, Seema

Publication type:

Case Study

Management of Cardiovascular Disorders in Patients with Noonan Syndrome: A Case Report.

Published in:

Journal of Tehran University Heart Center, 2017, v. 12, n. 4, p. 184

By:

Khorgami, Mohammad Rafie;
Moradian, Maryam;
Omidi, Negar;
Aarabi Moghadam, Mohammad Yousef

Publication type:

Article

Noonan syndrome: a case report.

Published in:

2009

By:

Emral, Muhammet E.;
Akcam, Mehmet O.

Publication type:

Case Study

Chronic tubulointerstitial nephritis in a solitary kidney of a child with Noonan syndrome.

Published in:

2012

By:

Golay, V.;
Pandey, R.;
Roychowdhary, A.

Publication type:

Case Study

Cardiovascular Abnormalities and Gene Mutations in Children With Noonan Syndrome.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.915129

By:

Sun, Ling;
Xie, Yu-mei;
Wang, Shu-shui;
Zhang, Zhi-wei

Publication type:

Article

Primary pulmonary lymphangiectasia in Noonan syndrome: apropos of an extremely rare manifestation and a brief literature review.

Published in:

Monaldi Archives for Chest Disease, 2020, v. 90, n. 4, p. 725, doi. 10.4081/monaldi.2020.1576

By:

Dendrinou, Georgia-Emmanuela;
Zagarelos, Panagiotis;
Sofronas, Angelos;
Katsenos, Stamatis

Publication type:

Article

Survival Implications: Hypertrophic Cardiomyopathy in Noonan Syndrome.

Published in:

Congenital Heart Disease, 2011, v. 6, n. 1, p. 41, doi. 10.1111/j.1747-0803.2010.00465.x

By:

Hickey, Edward J.;
Mehta, Rohit;
Elmi, Maryam;
Asoh, Kentaro;
McCrindle, Brian W.;
Williams, William G.;
Manlhiot, Cedric;
Benson, Lee

Publication type:

Article

Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene.

Published in:

Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01340-4

By:

Mercadante, Francesca;
Piro, Ettore;
Busè, Martina;
Salzano, Emanuela;
Ferrara, Arturo;
Serra, Gregorio;
Passarello, Cristina;
Corsello, Giovanni;
Piccione, Maria

Publication type:

Article

Development of disease-specific growth charts in Turner syndrome and Noonan syndrome.

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2017, v. 22, n. 4, p. 240, doi. 10.6065/apem.2017.22.4.240

By:

Tsuyoshi Isojima;
Susumu Yokoya

Publication type:

Article

A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.

Published in:

2016

By:

Nemcikova, Michaela;
Vejvalkova, Sarka;
Fencl, Filip;
Sukova, Martina;
Krepelova, Anna

Publication type:

journal article

Are ECG abnormalities in Noonan syndrome characteristic for the syndrome?

Published in:

2008

By:

Raaijmakers, R.;
Noordam, C.;
Noonan, J. A.;
Croonen, E. A.;
Van der Burgt, C. J. A. M.;
Draaisma, J. M. T.

Publication type:

journal article

Unusual Vascular Manifestations of Noonan Syndrome.

Published in:

Journal of Cardiovascular Disease Research (Journal of Cardiovascular Disease Research), 2017, v. 8, n. 3, p. 101, doi. 10.5530/jcdr.2017.3.23

By:

Burt, Jeremy;
Ramirez, Ashley;
Limback, Joseph;
Derrick, Edward;
Agha, Ali;
Varich, Laura

Publication type:

Article

Noonan syndrome with somnambulism: A rare case report.

Published in:

Industrial Psychiatry Journal, 2020, v. 29, n. 2, p. 339, doi. 10.4103/ipj.ipj_84_19

By:

Sahu, Samiksha;
Chaudhury, Suprakash;
Saldanha, Daniel

Publication type:

Article

Noonan Sendromu ve İnme: Bir Olgu Sunumu.

Published in:

Turkish Journal of Neurology / Turk Noroloji Dergisi, 2012, v. 18, n. 1, p. 36, doi. 10.4274/Tnd.59023

By:

Nur Mıhı, Ebru;
Uak, Murat;
Mıhı, Ercan;
Aktekin, Berrin

Publication type:

Article

Improved final height with long-term growth hormone treatment in Noonan syndrome.

Published in:

2005

By:

Osio, Deborah;
Dahlgren, Jovanna;
Wikland, Kerstin Albertsson;
Westphal, Otto

Publication type:

journal article