Works matching Noonan syndrome

Results: 1328

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

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:

Chinese Journal of Contemporary Pediatrics, 2025, v. 27, n. 1, p. 33, doi. 10.7499/j.issn.1008-8830.2409047

By:

李辛;
温湉;
冯碧云;
王秀敏

Publication type:

Article

Noonan-szindróma családi halmozódása.

Published in:

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

By:

Tamás, Niederland

Publication type:

Article

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

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

Proteomic analysis of salivary inflammatory biomarkers of developmental gingival enlargements in patients with West and Noonan syndromes: a preliminary pilot single-center retrospective study.

Published in:

European Review for Medical & Pharmacological Sciences, 2023, v. 27, n. 22, p. 11093

By:

GUGLIELMI, F.;
KIRSCHNER, F.;
STADERINI, E.;
IAVARONE, F.;
FIORINO, A.;
GALLENZI, P.

Publication type:

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

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

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 case report.

Published in:

2009

By:

Emral, Muhammet E.;
Akcam, Mehmet O.

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

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

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

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

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

CRYPTORCHIDISM AND PRECOCIOUS PUBERTY IN A PATIENT WITH NOONAN SYNDROME AND 21-HYDROXYLASE DEFICIENCY.

Published in:

2015

By:

Lichiardopol, C.

Publication type:

Case Study

GENOTYPE - PHENOTYPE CORRELATIONS IN NOONAN SYNDROME.

Published in:

Acta Endocrinologica (1841-0987), 2014, v. 10, n. 3, p. 463, doi. 10.4183/aeb.2014.463

By:

Rusu, C.;
Idriceanu, J.;
Bodescu, I.;
Anton, M.;
Vulpoi, C.

Publication type:

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

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

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

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

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

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

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

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

Published in:

2013

By:

Yektaş, Abdulkadir

Publication type:

Case Study

Severe coronary artery ectesia in a paediatric patient with Noonan syndrome presenting for transcatheter pulmonary valve placement.

Published in:

2025

By:

Herron, Christopher;
Iacono, Karen;
Nykanen, David

Publication type:

Case Study

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

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

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

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

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

OROFACIAL FINDINGS IN NOONAN SYNDROME: A CASE REPORT.

Published in:

2013

By:

MOCANU, Raluca Maria;
ZETU, Irina Nicoleta;
VULPOIU, Carmen;
BALAN, Adriana

Publication type:

Case Study

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

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

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

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

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

Noonan Syndrome with Coronary Anomaly.

Published in:

2017

By:

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

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

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

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