Works matching Noonan syndrome

Results: 1355

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

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

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

Mastocytosis in a Case of Noonan Syndrome Caused by a De Novo Pathogenic CBL Variant.

Published in:

Yonago Acta Medica, 2023, v. 66, n. 4, p. 463, doi. 10.33160/yam.2023.11.005

By:

Tatsuya Kawaguchi;
Tohru Okanishi;
Tetsuya Okazaki;
Chisako Aoki;
Noriko Kasagi;
Kaori Adachi;
Yuichi Yoshida;
Noriko Miyake;
Naomichi Matsumoto;
Yoshihiro Maegaki

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

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

Etiology and Treatment of Growth Delay in Noonan Syndrome.

Published in:

Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.691240

By:

Rodríguez, Fernando;
Gaete, Ximena;
Cassorla, Fernando

Publication type:

Article

Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review.

Published in:

Genes, 2024, v. 15, n. 4, p. 445, doi. 10.3390/genes15040445

By:

Han, Ji Yoon;
Park, Joonhong

Publication type:

Article

A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome.

Published in:

Genes, 2024, v. 15, n. 1, p. 32, doi. 10.3390/genes15010032

By:

Onore, Maria Elena;
Caiazza, Martina;
Farina, Antonella;
Scarano, Gioacchino;
Budillon, Alberto;
Borrelli, Rossella Nicoletta;
Limongelli, Giuseppe;
Nigro, Vincenzo;
Piluso, Giulio

Publication type:

Article

Research on the Pathogenesis of Cognitive and Neurofunctional Impairments in Patients with Noonan Syndrome: The Role of Rat Sarcoma–Mitogen Activated Protein Kinase Signaling Pathway Gene Disturbances.

Published in:

Genes, 2023, v. 14, n. 12, p. 2173, doi. 10.3390/genes14122173

By:

Braun-Walicka, Natalia;
Pluta, Agnieszka;
Wolak, Tomasz;
Maj, Edyta;
Maryniak, Agnieszka;
Gos, Monika;
Abramowicz, Anna;
Landowska, Aleksandra;
Obersztyn, Ewa;
Bal, Jerzy

Publication type:

Article

Rapid progression of mitral valve disease in a child with Noonan syndrome.

Published in:

2020

By:

Doctor, Pezad N.;
Lawrence, David K.;
Misra, Amrit

Publication type:

journal article

Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.

Published in:

BMC Medical Genomics, 2017, v. 10, p. 1, doi. 10.1186/s12920-017-0298-6

By:

Shanshan Xu;
Yanjie Fan;
Yu Sun;
Lili Wang;
Xuefan Gu;
Yongguo Yu

Publication type:

Article

A Novel Mutation on RAF1 in Association with Fetal Findings Suggestive of Noonan Syndrome.

Published in:

Fetal & Pediatric Pathology, 2015, v. 34, n. 6, p. 361, doi. 10.3109/15513815.2015.1087609

By:

Kneitel, Anna W.;
Norby, Audrey;
Vettraino, Ivana;
Treadwell, Marjorie C.

Publication type:

Article

Twin Infant with Lymphatic Dysplasia Diagnosed with Noonan Syndrome by Molecular Genetic Testing.

Published in:

Fetal & Pediatric Pathology, 2014, v. 33, n. 4, p. 253, doi. 10.3109/15513815.2014.904026

By:

Mathur, Deepan;
Somashekar, Santhosh;
Navarrete, Cristina;
Rodriguez, Maria M.

Publication type:

Article

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

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

The first reported case of Noonan syndrome complicated with hepatocellular carcinoma.

Published in:

Clinical Case Reports, 2021, v. 9, n. 7, p. 1, doi. 10.1002/ccr3.4317

By:

Kakizaki, Satoru;
Uehara, Daisuke;
Tojima, Hiroki;
Suga, Takayoshi;
Yamazaki, Yuichi;
Sato, Ken;
Kubo, Norio;
Shirabe, Ken;
Yokota, Takayuki;
Shibuya, Kei;
Maehara, Tatsurou;
Yokoo, Hideaki;
Naganuma, Atsushi;
Uraoka, Toshio

Publication type:

Article

Co‐occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death.

Published in:

2018

By:

Tamura, Akihiro;
Uemura, Suguru;
Matsubara, Kousaku;
Kozuki, Eru;
Tanaka, Toshikatsu;
Nino, Nanako;
Yokoi, Takehito;
Saito, Atsuro;
Ishida, Toshiaki;
Hasegawa, Daiichiro;
Umeki, Ikumi;
Niihori, Tetsuya;
Nakazawa, Yozo;
Koike, Kenichi;
Aoki, Yoko;
Kosaka, Yoshiyuki

Publication type:

Case Study

Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis.

Published in:

Clinical Case Reports, 2017, v. 5, n. 7, p. 1152, doi. 10.1002/ccr3.1011

By:

Kane, Jennifer;
Berrebi, Kristen;
McLean, Riley;
Petkiewicz, Stephanie;
Hay, Beverly;
Martin, Madelena;
Wiss, Karen

Publication type:

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

Five-year response to growth hormone in children with Noonan syndrome and growth hormone deficiency.

Published in:

Italian Journal of Pediatrics, 2015, v. 41, n. 1, p. 1, doi. 10.1186/s13052-015-0183-x

By:

Zavras, Niki;
Meazza, Cristina;
Pilotta, Alba;
Gertosio, Chiara;
Pagani, Sara;
Tinelli, Carmine;
Bozzola, Mauro

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

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

PP-21 Noonan syndrome presented with cystic hygroma in the first trimester.

Published in:

2023

By:

Sağlam, Ceren;
Can, Sevim Tuncer;
Torun, Raziye;
Çakır, Zübeyde Emiralioğlu;
Sever, Barış;
Ekin, Atalay

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

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

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

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

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 - a new survey.

Published in:

2017

By:

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

Publication type:

journal 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

Patient engagement in the design of clinical research in Noonan syndrome spectrum disorders: a scoping review.

Published in:

2021

By:

Tiemens, Dagmar K.;
Nugteren, Jacqueline;
Leenders, Erika;
Wingbermühle, Ellen;
Pittens, Carina A. C. M.;
Draaisma, Jos M. Th.

Publication type:

journal article

Noonan syndrome: a case report.

Published in:

2009

By:

Emral, Muhammet E.;
Akcam, Mehmet O.

Publication type:

Case Study

Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report.

Published in:

2023

By:

Aniol, Claudia V.;
Prokop, Jeremy W.;
Rajasekaran, Surender;
Pageau, Spencer;
Elizer, Sydney K.;
VanSickle, Elizabeth A.;
Bupp, Caleb P.

Publication type:

Case Study

Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report.

Published in:

2023

By:

Aniol, Claudia V.;
Prokop, Jeremy W.;
Rajasekaran, Surender;
Pageau, Spencer;
Elizer, Sydney K.;
VanSickle, Elizabeth A.;
Bupp, Caleb P.

Publication type:

Case Study

New insights on Noonan syndrome's clinical phenotype: a single center retrospective study.

Published in:

BMC Pediatrics, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12887-022-03804-2

By:

Baldo, Francesco;
Fachin, Alice;
Da Re, Beatrice;
Rubinato, Elisa;
Bobbo, Marco;
Barbi, Egidio

Publication type:

Article

Unexpected cause of headache in a patient with Noonan syndrome: aseptic meningitis.

Published in:

Polish Journal of Allergology / Alergologia Polska, 2024, v. 11, n. 4, p. 327, doi. 10.5114/pja.2024.142944

By:

Arsoy, Hacer Efnan Melek;
Özdemir, Öner;
Dikici, Ümmügülsüm;
Önata, Ece Tüsüz;
Polat, Recep

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

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