Works about NOONAN syndrome

Results: 577

Assessment of Fetal Posterior Fossa Anomalies at 11–13<sup>+6</sup> Gestational Weeks in the Midsagittal Cranial Plane by Three‐Dimensional Multiplanar Sonography: A Prospective Study.

Published in:

Journal of Ultrasound in Medicine, 2025, v. 44, n. 8, p. 1379, doi. 10.1002/jum.16691

By:

Liu, Feng‐Qin;
Yang, Ze‐Xuan;
Yang, Lin‐Hua;
Xi, Ji‐Mei;
Chen, Lin;
Zhou, Liu‐Ying;
Chen, De‐Xin

Publication type:

Article

Serum Markers of Bone Turnover and Bone Remodeling in Children with Noonan Syndrome: Genotype-Phenotype Correlation.

Published in:

Genes, 2025, v. 16, n. 6, p. 668, doi. 10.3390/genes16060668

By:

Chiarito, Mariangela;
Farella, Ilaria;
Lattanzio, Crescenza;
Vitale, Rossella;
Urbano, Flavia;
Guida, Pietro;
Piacente, Laura;
Muggeo, Paola;
Faienza, Maria Felicia

Publication type:

Article

Mosaic male fetus of Turner syndrome with partial chromosome Y: A case report.

Published in:

2018

By:

Xue, Dan;
Cao, Dong‐hua;
Mu, Kai;
Lv, Yuan;
Yang, Jun

Publication type:

Case Study

Fetal Hydrothorax Treated with Pleuro-Amniotic Shunting: Fetal and Maternal Complications and Long-Term Outcomes.

Published in:

Fetal Diagnosis & Therapy, 2023, v. 50, n. 2, p. 115, doi. 10.1159/000529334

By:

Lanna, Mariano;
Consonni, Dario;
Faiola, Stefano;
Casati, Daniela;
Laoreti, Arianna;
Zavatta, Alice;
Farolfi, Andrea;
Spaccini, Luigina;
Scelsa, Barbara;
Lista, Gianluca;
Cetin, Irene

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

Noonan Syndrome and its Ophthalmic Implications: Insights from a Pediatric Case.

Published in:

Türkiye Klinikleri Journal of Case Reports, 2024, v. 32, n. 2, p. 36, doi. 10.5336/caserep.2023-100613

By:

DAL, Ali;
ERDAĞ, Murat;
CANLEBLEBİCİ, Mehmet

Publication type:

Article

Noonan-szindróma családi halmozódása.

Published in:

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

By:

Tamás, Niederland

Publication type:

Article

Second Trimester Ultrasound Diagnosis of External Hydrocephalus in Two Fetuses with Noonan Syndrome—Case Report Series.

Published in:

2025

By:

Elekes, Tibor;
Ladanyi, Aniko;
Pap, Eva;
Szabo, Janos;
Illes, Anett;
Gullai, Nora;
Varbiro, Szabolcs

Publication type:

Case Study

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

Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 15, p. 5003, doi. 10.3390/jcm12155003

By:

Carcavilla, Atilano;
Cambra, Ana;
Santomé, José L.;
Seidel, Verónica;
Cruz, Jaime;
Alonso, Milagros;
Pozo, Jesús;
Valenzuela, Irene;
Guillén-Navarro, Encarna;
Santos-Simarro, Fernando;
González-Casado, Isabel;
Rodríguez, Amparo;
Medrano, Constancio;
López-Siguero, Juan Pedro;
Ezquieta, Begoña

Publication type:

Article

The Multifaceted Syndromic Primary Immunodeficiencies in Children.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 15, p. 4964, doi. 10.3390/jcm12154964

By:

Ng, Khuen Foong;
Goenka, Anu;
Manyika, Florence;
Bernatoniene, Jolanta

Publication type:

Article

Cognitive Phenotype and Psychopathology in Noonan Syndrome Spectrum Disorders through Various Ras/MAPK Pathway Associated Gene Variants.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 16, p. 4735, doi. 10.3390/jcm11164735

By:

Wingbermühle, Ellen;
Roelofs, Renée L.;
Oomens, Wouter;
Kramer, Jennifer;
Draaisma, Jos M. T.;
Leenders, Erika;
Kleefstra, Tjitske;
Kessels, Roy P. C.;
Egger, Jos I. M.

Publication type:

Article

Lymphatic Phenotype of Noonan Syndrome: Innovative Diagnosis and Possible Implications for Therapy.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 11, p. 3128, doi. 10.3390/jcm11113128

By:

Kleimeier, Lotte E. R.;
van Schaik, Caroline;
Leenders, Erika;
Itkin, Maxim;
Klein, Willemijn M.;
Draaisma, Jos M. T.

Publication type:

Article

Intrauterine Thoracoamniotic Shunting of Fetal Hydrothorax with the Somatex Intrauterine Shunt: Intrauterine Course and Postnatal Outcome.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 9, p. 2312, doi. 10.3390/jcm11092312

By:

Grandt, Joleen;
Gottschalk, Ingo;
Geipel, Annegret;
Gembruch, Ulrich;
Simonini, Corinna;
Weber, Eva;
Berg, Christoph;
Müller, Andreas;
Strizek, Brigitte

Publication type:

Article

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

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

Juvenile myelomonocytic leukaemia and Noonan syndrome: a case study.

Published in:

New Zealand Journal of Medical Laboratory Science, 2016, v. 70, n. 3, p. 110

By:

Hutin, Ceryn;
May, Stephen;
Prestidge, Tim

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

Abnormal Auditory Brainstem Response (ABR) Findings in a Near-Normal Hearing Child with Noonan Syndrome.

Published in:

2017

By:

Jalaei, Bahram;
Zakaria, MohdNormani;
Sidek, Dinsuhaimi

Publication type:

Case Study

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

Case Report: Molecular autopsy underlie COVID-19-associated sudden, unexplained child mortality.

Published in:

Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1121059

By:

Kana Unuma;
Dan Tomomasa;
Kosuke Noma;
Kouhei Yamamoto;
Taka-aki Matsuyama;
Yohsuke Makino;
Atsushi Hijikata;
Shuheng Wen;
Tsutomu Ogata;
Nobuhiko Okamoto;
Satoshi Okada;
Kenichi Ohashi;
Koichi Uemura;
Hirokazu Kanegane

Publication type:

Article

The Phosphatase CSW Controls Life Span by Insulin Signaling and Metabolism Throughout Adult Life in Drosophila.

Published in:

Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00364

By:

Ruzzi, Leonardo R.;
Schilman, Pablo E.;
San Martin, Alvaro;
Lew, Sergio E.;
Gelb, Bruce D.;
Pagani, Mario R.

Publication type:

Article

Brain Herniation in Neurofibromatosis with Dysplasia of Occipital Bone and Posterior Skull Base.

Published in:

2015

By:

Rangarajan, Vithal;
Mahore, Amit;
Patil, Manoj;
Sathe, Prashant;
Kaswa, Amol;
Gore, Sandeep;
Dharurkar, Pralhad;
Kawale, Juhi

Publication type:

Case Study

Neurofibromatosis Type 1 Associated with Hashimoto's Thyroiditis: Coincidence or Possible Link.

Published in:

Case Reports in Neurological Medicine, 2013, p. 1, doi. 10.1155/2013/910656

By:

Nabi, Junaid

Publication type:

Article

Lack of Catch-Up Growth with Growth Hormone Treatment in a Child Born Small for Gestational Age Leading to a Diagnosis of Noonan Syndrome with a Pathogenic PTPN11 Variant.

Published in:

Case Reports in Endocrinology, 2021, p. 1, doi. 10.1155/2021/5571524

By:

Olivieri, Daniel J.;
Massingham, Lauren J.;
Schwab, Jennifer L.;
Quintos, Jose Bernardo

Publication type:

Article

Disseminated lymphangiomas as a cutaneous manifestation of Noonan syndrome.

Published in:

Clinical & Experimental Dermatology, 2022, v. 47, n. 1, p. 180, doi. 10.1111/ced.14873

By:

Pérez‐Feal, P.;
Moreiras‐Arias, N.;
Buján‐Bonino, C.;
Suárez‐Peñaranda, J. M.;
Fernández‐Redondo, V.

Publication type:

Article

Noonan syndrome with multiple lentigines and associated craniosynostosis.

Published in:

2018

By:

McDonald, B. S.;
Pigors, M.;
Kelsell, D. P.;
O'Toole, E. A.;
Burkitt‐Wright, E.;
Kerr, B.;
Batta, K.

Publication type:

Case Study

Cervical characteristics of Noonan syndrome.

Published in:

European Journal of Orthodontics, 2014, v. 36, n. 2, p. 226, doi. 10.1093/ejo/cjt019

By:

Miyamoto, Jun J.;
Yabunaka, Tomoe;
Moriyama, Keiji

Publication type:

Article

Sexual and reproductive health and the adolescent cardiac patient.

Published in:

Journal of Alternative Medicine Research, 2021, v. 13, n. 1, p. 91

By:

Cabral, Maria Demma;
Holder, Nneka;
Dharmapuri, Sadhana

Publication type:

Article

SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitro.

Published in:

Stem Cell Research & Therapy, 2020, v. 11, n. 1, p. 1, doi. 10.1186/s13287-020-01709-4

By:

Ju, Younghee;
Park, Jun Sung;
Kim, Daejeong;
Kim, Bumsoo;
Lee, Jeong Ho;
Nam, Yoonkey;
Yoo, Han-Wook;
Lee, Beom Hee;
Han, Yong-Mahn

Publication type:

Article

RAS pathway and diseases.

Published in:

Anatomy: International Journal of Experimental & Clinical Anatomy, 2019, v. 13, n. S1, p. S16

By:

Çarman, Kürşat Bora

Publication type:

Article

Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome.

Published in:

Molecular Medicine Reports, 2016, v. 14, n. 3, p. 2639, doi. 10.3892/mmr.2016.5547

By:

JIA ZHANG;
JINWEN SHEN;
RUHONG CHENG;
CHENG NI;
JIANYING LIANG;
MING LI;
ZHIRONG YAO

Publication type:

Article

Myocardial hypertrophy with aortic dysplasia: a rare case of Noonan syndrome.

Published in:

2023

By:

Chongjun Xu;
Xue Lu;
Guangming Jin

Publication type:

Case Study

Familial Woolly Hair: A Rare Entity.

Published in:

2012

By:

Kumar Singh, Satyendra;
Manchanda, Kajal;
Kumar, Anand;
Verma, Anurag

Publication type:

Case Study

Abstracts from the 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society (APPES) and the 50th Annual Meeting of the Japanese Society for Pediatric Endocrinology (JSPE).

Published in:: 2017
Publication type:: Abstract

Noonan syndrome and Turner syndrome patients respond similarly to 4 years' growth-hormone therapy: longitudinal analysis of growth-hormone-naïve patients enrolled in the NordiNet® International Outcome Study and the ANSWER Program.

Published in:

International Journal of Pediatric Endocrinology, 2015, v. 2015, n. 1, p. 1, doi. 10.1186/s13633-015-0015-1

By:

Lee, Peter A.;
Ross, Judith L.;
Pedersen, Birgitte Tønnes;
Kotnik, Primoz;
Germak, John A.;
Christesen, Henrik T.

Publication type:

Article

Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 Gene mutation.

Published in:

2013

By:

Yoo-Mi Kim;
Jin-Ho Choi;
Beom Hee Lee;
Chang-Woo Jung;
Hye Young Jin;
Jae-Min Kim;
Gu-Hwan Kim;
Jin Soon Hwang;
Sei Won Yang;
Jin Lee;
Han-Wook Yoo

Publication type:

Abstract

Management of rasopathies.

Published in:

2013

By:

Han-Wook Yoo

Publication type:

Abstract

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

Noonan syndrome.

Published in:

Journal of Paediatrics & Child Health, 2014, v. 50, n. 10, p. E14, doi. 10.1111/j.1440-1754.2010.01970.x

By:

Turner, Anne M

Publication type:

Article

Síndrome de Noonan y riesgo de hipertermia maligna: anestesia total intravenosa para cirugía pediátrica ambulatoria.

Published in:

Revista Mexicana de Anestesiología, 2013, v. 36, n. 4, p. 314

By:

Ramírez-Paesano, Carlos Rafael;
Hachoue-Saliba, Zeina Soledad

Publication type:

Article

Affective functioning and social cognition in Noonan syndrome.

Published in:

Psychological Medicine, 2012, v. 42, n. 2, p. 419, doi. 10.1017/S0033291711001115

By:

Wingbermühle, E.;
Egger, J. I. M.;
Verhoeven, W. M. A.;
van der Burgt, I.;
Kessels, R. P. C.

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

Prolonged thrombocytopenia in a child with severe neonatal alloimmune reaction and Noonan syndrome.

Published in:

2016

By:

Salva, Inês;
Batalha, Sara;
Maia, Raquel;
Kjollerstrom, Paula

Publication type:

Case Study

Case report: Identification and clinical phenotypic analysis of novel mutation of the PPP1CB gene in NSLH2 syndrome.

Published in:

Frontiers in Behavioral Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fnbeh.2022.987259

By:

Xuemei He;
Xiuli Ma;
Jing Wang;
Zhuo Zou;
Haoyu Huang;
Jian Ren;
Chunming Liu;
Nan Zheng;
Jing Ma;
Yun Liu

Publication type:

Article

Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS‐positive variant patients.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2024, v. 38, n. 9, p. 1818, doi. 10.1111/jdv.19996

By:

Bessis, Didier;
Bursztejn, Anne‐Claire;
Morice‐Picard, Fanny;
Capri, Yline;
Barbarot, Sébastien;
Aubert, Hélène;
Bodet, Damien;
Bourrat, Emmanuelle;
Chiaverini, Christine;
Poujade, Laura;
Willems, Marjolaine;
Rouanet, Jacques;
Dompmartin‐Blanchère, Anne;
Geneviève, David;
Gerard, Marion;
Ginglinger, Emmanuelle;
Hadj‐Rabia, Smaïl;
Martin, Ludovic;
Mazereeuw‐Hautier, Juliette;
Bibas, Nathalie

Publication type:

Article

Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations.

Published in:

2019

By:

Calcagni, Giulio;
Digilio, Maria Cristina;
Marino, Bruno;
Tartaglia, Marco

Publication type:

Letter

Atypical Orofacial Conditions in Noonan Syndrome: A Case Report.

Published in:

2012

By:

Toureno, Leo;
Jae Hyun Park

Publication type:

Case Study

Atypical Orofacial Conditions in Noonan Syndrome: A Case Report.

Published in:

Journal of Clinical Pediatric Dentistry, 2011, v. 36, n. 2, p. 197, doi. 10.17796/jcpd.36.2.81074271088334h2

By:

Toureno, Leo;
Jae Hyun Park

Publication type:

Article