Works matching Noonan syndrome

Results: 1347

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

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

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

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

Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome.

Published in:

2021

By:

D'Amico, Alessandra;
Cipullo, Maria Brunella;
Falco, Mariateresa;
Ugga, Lorenzo;
Melis, Daniela

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

The RRAS2 pathogenic variant (c.67G>T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2313

By:

Zeng, Lan;
Wang, Jin;
Zhu, Hui;
Huang, Yu;
Deng, Yi;
Wei, Ping;
Nie, Jing;
Tang, Bei;
Chen, Ai;
Zhu, Shuyao

Publication type:

Article

Noonan syndrome: rhGH treatment and PTPN11 mutation.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 11, p. 1, doi. 10.1002/mgg3.2266

By:

Wu, Xian;
Wu, Jiali;
Yuan, Yi;
Yang, Li;
Yu, Lirong

Publication type:

Article

Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 7, p. 1, doi. 10.1002/mgg3.1954

By:

Kraoua, Lilia;
Jaouadi, Hager;
Allouche, Mohamed;
Achour, Ahlem;
Kaouther, Hakim;
Ahmed, Habib Ben;
Chaker, Lilia;
Maazoul, Faouzi;
Ouarda, Fatma;
Zaffran, Stéphane;
M'rad, Ridha

Publication type:

Article

Complicated ventricular arrhythmia and hematologic myeloproliferative disorder in RIT1‐associated Noonan syndrome: Expanding the phenotype and review of the literature.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1253

By:

Aly, Safwat A.;
Boyer, Kenneth M.;
Muller, Brie‐Ann A.;
Marini, Davide;
Jones, Carolyn H.;
Nguyen, Hoang H.

Publication type:

Article

Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 5, p. 1, doi. 10.1002/mgg3.1174

By:

Schönfeld, Mascha;
Selig, Mareike;
Russo, Alexandra;
Lindner, Christine;
Kampmann, Christoph;
Mildenberger, Eva;
Whybra, Catharina

Publication type:

Article

Noonan syndrome‐associated biallelic LZTR1 mutations cause cardiac hypertrophy and vascular malformations in zebrafish.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1107

By:

Nakagama, Yu;
Takeda, Norihiko;
Ogawa, Seishi;
Takeda, Hiroyuki;
Furutani, Yoshiyuki;
Nakanishi, Toshio;
Sato, Tatsuyuki;
Hirata, Yoichiro;
Oka, Akira;
Inuzuka, Ryo

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

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

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

Unique Cerebrovascular Anomalies in Noonan Syndrome With RAF1 Mutation.

Published in:

2014

By:

Zarate, Yuri A.;
Lichty, Angie W.;
Champion, Kristen J.;
Clarkson, L. Kate;
Holden, Kenton R.;
Matheus, M. Gisele

Publication type:

Case Study

Transcatheter closure of atrial septal defect in a patient with Noonan syndrome after corrective surgery.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2015, v. 72, n. 6, p. 557, doi. 10.2298/VSP1506557M

By:

Mangovski, Ljupčo;
Farkić, Mihajlo;
Jovović, Ljiljana

Publication type:

Article

A Rare Neurological Presentation of Noonan Syndrome and Its Management—A Case Report.

Published in:

2024

By:

Mahajan, Shalvi;
Narayanan, Vidhya;
Narayan, Vinitha;
Depuru, Aparna

Publication type:

Case Study

A Rare Neurological Presentation of Noonan Syndrome and Its Management—A Case Report.

Published in:

2024

By:

Mahajan, Shalvi;
Narayanan, Vidhya;
Narayan, Vinitha;
Depuru, Aparna

Publication type:

Case Study

Panhipopituitarizm, hipotiroidi ve Noonan sendromlu pediatrik hastada anestezik yaklaşım: Olgu sunumu.

Published in:

2013

By:

Yektaş, Abdulkadir

Publication type:

Case Study

Noonan Syndrome Presenting as Lymphoedema Precox.

Published in:

2012

By:

HAQUE, MD AZIZUL;
SHARMIN, LAILA SHAMIMA;
AMIN, ZAHID;
EKRAM, ARM SAIFUDDIN

Publication type:

Case Study

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

Síndrome de Noonan.

Published in:

Revista ADM, 2025, v. 82, n. 1, p. 39, doi. 10.35366/119369

By:

Ortiz García, José Luis;
Larita Cruz, Elideth

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

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

MAPK activation in mature cataract associated with Noonan syndrome.

Published in:

BMC Ophthalmology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2415-13-70

By:

Hashida, Noriyasu;
Xie Ping;
Kohji Nishida

Publication type:

Article

Successful diuretics treatment of protein-losing enteropathy in Noonan syndrome.

Published in:

Pediatrics International, 2015, v. 57, n. 2, p. e39, doi. 10.1111/ped.12603

By:

Mizuochi, Tatsuki;
Suda, Kenji;
Seki, Yoshitaka;
Yanagi, Tadahiro;
Yoshimoto, Hironaga;
Kudo, Yoshiyuki;
Iemura, Motofumi;
Tanikawa, Ken;
Matsuishi, Toyojiro

Publication type:

Article

Surgical Orthodontic Treatment for Open Bite in Noonan Syndrome Patient: A Case Report.

Published in:

Cleft Palate Craniofacial Journal, 2016, v. 53, n. 2, p. 253, doi. 10.1597/14-196

By:

Masayoshi Kawakami;
Kazuhiko Yamamoto;
Tadahiro Shimomura;
Tadaaki Kirita

Publication type:

Article

Conservative Management of Severe Open Bite and Feeding Difficulties in Patient With Noonan Syndrome.

Published in:

Cleft Palate Craniofacial Journal, 2013, v. 50, n. 2, p. 242, doi. 10.1597/11-214

By:

Roriz Fonteles, Cristiane Sá;
De Miranda Mota, Ana Catarina;
Araújo Lima, Ramille;
Cavalcante Borges, Priscilla;
Da Silveira, Adriana

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

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

A PTPN11 mutation in a woman with Noonan syndrome and protein-losing enteropathy.

Published in:

2020

By:

Wang, Na;
Shi, Wen;
Jiao, Yang

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

Association between Noonan syndrome and Chiari I malformation: a case-based update.

Published in:

Child's Nervous System, 2013, v. 29, n. 5, p. 749, doi. 10.1007/s00381-012-2000-9

By:

Keh, Yann;
Abernethy, Laurence;
Pettorini, Benedetta

Publication type:

Article

A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype.

Published in:

Child's Nervous System, 2012, v. 28, n. 12, p. 2181, doi. 10.1007/s00381-012-1905-7

By:

Yimenicioğlu, Sevgi;
Yakut, Ayten;
Karaer, Kadri;
Zenker, Martin;
Ekici, Arzu;
Çarman, Kürşat

Publication type:

Article

A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2020, v. 12, n. 1, p. 113, doi. 10.4274/jcrpe.galenos.2019.2019.0023

By:

Işık, Esra;
Onay, Hüseyin;
Atik, Tahir;
Solmaz, Aslı Ece;
Özen, Samim;
Çoğulu, Özgür;
Darcan, Şükran;
Özkınay, Ferda

Publication type:

Article

Noonan syndrome - a new survey.

Published in:

2017

By:

Tafazoli, Alireza;
Eshraghi, Peyman;
Koleti, Zahra Kamel;
Abbaszadegan, Mohammadreza

Publication type:

journal 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

Mutation in NRAS in familial Noonan syndrome - case report and review of the literature.

Published in:

BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0239-1

By:

Ekvall, Sara;
Wilbe, Maria;
Dahlgren, Jovanna;
Legius, Eric;
van Haeringen, Arie;
Westphal, Otto;
Annerén, Göran;
Bondeson, Marie-Louise

Publication type:

Article

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.

Published in:

BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/1471-2350-15-14

By:

Lepri, Francesca Romana;
Scavelli, Rossana;
Digilio, Maria Cristina;
Gnazzo, Maria;
Grotta, Simona;
Dentici, Maria Lisa;
Pisaneschi, Elisa;
Sirleto, Pietro;
Capolino, Rossella;
Baban, Anwar;
Russo, Serena;
Franchin, Tiziana;
Angioni, Adriano;
Dallapiccola, Bruno

Publication type:

Article

Pulmonální valvární stenóza u dítěte se syndromem Noonanové.

Published in:

Pediatrie pro Praxi, 2022, v. 23, n. 2, p. 124

By:

Palátová, Alžběta;
Klásková, Eva;
Kaprálová, Sabina

Publication type:

Article

Noonan Syndrome with Coronary Anomaly.

Published in:

2017

By:

Twohig, Ling D.;
Nickerson, Ashley R.;
Prather, John W.

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

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

Noonan syndrome: a case report.

Published in:

2009

By:

Emral, Muhammet E.;
Akcam, Mehmet O.

Publication type:

Case Study