Works matching DE "NOONAN syndrome"

Results: 563

Neurosurgical aspects of Noonan syndrome.

Published in:

Child's Nervous System, 2023, v. 39, n. 4, p. 849, doi. 10.1007/s00381-023-05888-2

By:

Saragosti, Eldad;
Fattal-Valevski, Aviva;
Levin, Dror;
Hausman-Kedem, Moran;
Constantini, Shlomi;
Mecica, Noa;
Zarour, Shiri;
Roth, Jonathan

Publication type:

Article

MRI and MR neurography features of a patient with Noonan syndrome associated with diffuse thickening of peripheral and cranial nerves.

Published in:

2022

By:

Corrêa, Diogo Goulart;
Hygino da Cruz Jr., Luiz Celso

Publication type:

Case Study

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

Chiari I malformation in patients with RASopathies.

Published in:

Child's Nervous System, 2021, v. 37, n. 6, p. 1831, doi. 10.1007/s00381-020-05034-2

By:

Han, Yong;
Chen, Min;
Wang, Hangzhou

Publication type:

Article

Pediatric neurofibromatosis type 2: clinical and molecular presentation, management of vestibular schwannomas, and hearing rehabilitation.

Published in:

Child's Nervous System, 2016, v. 32, n. 12, p. 2403, doi. 10.1007/s00381-016-3257-1

By:

Bonne, Nicolas;
Aboukais, Rabih;
Baroncini, Marc;
Hochart, Audrey;
Leblond, Pierre;
Broly, Franck;
Dubrulle, Frédérique;
Lejeune, Jean-Paul;
Vincent, Christophe

Publication type:

Article

Impact of pathogenic variants of the Ras–mitogen-activated protein kinase pathway on major white matter tracts in the human brain.

Published in:

Brain Communications, 2024, v. 6, n. 4, p. 1, doi. 10.1093/braincomms/fcae274

By:

Siqueiros-Sanchez, Monica;
Dai, Erpeng;
McGhee, Chloe A;
McNab, Jennifer A;
Raman, Mira M;
Green, Tamar

Publication type:

Article

NOT JUST ANOTHER HYPERMOBILE PATIENT: NOONAN SYNDROME DIAGNOSED IN LATE ADULTHOOD IN THE RHEUMATOLOGY CLINIC.

Published in:

2018

By:

Sin, Fang En;
Kazkaz, Hanadi

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

How calm should I keep? Café-au-lait macules as potential manifestations of cancer susceptibility syndromes.

Published in:

Oncolog-Hematolog, 2023, n. 64, p. 33

By:

Cismaru, Andrei;
Berindan-Neagoe, Ioana

Publication type:

Article

Autism spectrum disorder profiles in RASopathies: A systematic review.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2428

By:

Debbaut, Edward;
Steyaert, Jean;
El Bakkali, Mouna

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

RAF1 mutation leading to hypertrophic cardiomyopathy in a Chinese family with a history of sudden cardiac death: A diagnostic insight into Noonan syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2290

By:

Zheng, Jingjing;
Peng, Longyun;
Cheng, Ruofei;
Li, Zhiyan;
Xie, Jianjie;
Huang, Erwen;
Cheng, Jianding;
Zhao, Qianhao

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

Objective differential diagnosis of Noonan and Williams–Beuren syndromes in diverse populations using quantitative facial phenotyping.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1636

By:

Porras, Antonio R.;
Summar, Marshal;
Linguraru, Marius George

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

Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 4, p. 1, doi. 10.1002/mgg3.1180

By:

Witkowski, Leora;
Dillon, Mitchell W.;
Murphy, Elissa;
Lebo, Matthew;
Mason‐Suares, Heather

Publication type:

Article

Defining language disorders in children and adolescents with Noonan Syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 4, p. 1, doi. 10.1002/mgg3.1069

By:

Lazzaro, Giulia;
Caciolo, Cristina;
Menghini, Deny;
Cumbo, Francesca;
Digilio, Maria C.;
Capolino, Rossella;
Zampino, Giuseppe;
Tartaglia, Marco;
Vicari, Stefano;
Alfieri, Paolo

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

The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 5, p. N.PAG, doi. 10.1002/mgg3.616

By:

Trevisson, Eva;
Morbidoni, Valeria;
Forzan, Monica;
Daolio, Cecilia;
Fumini, Valentina;
Parrozzani, Raffaele;
Cassina, Matteo;
Midena, Edoardo;
Salviati, Leonardo;
Clementi, Maurizio

Publication type:

Article

The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 4, p. N.PAG, doi. 10.1002/mgg3.581

By:

Koh, Ai‐Ling;
Tan, Ee‐Shien;
Brett, Maggie S.;
Lai, Angeline H. M.;
Jamuar, Saumya Shekhar;
Ng, Ivy;
Tan, Ene‐Choo

Publication type:

Article

Neurofibromatosis type 1 ( NF1) gene: Beyond café au lait spots and dermal neurofibromas.

Published in:

Experimental Dermatology, 2017, v. 26, n. 7, p. 645, doi. 10.1111/exd.13212

By:

Peltonen, Sirkku;
Kallionpää, Roope A.;
Peltonen, Juha

Publication type:

Article

OP23.10: Prenatal genetic screening and neonatal outcomes in fetuses with echogenic intra‐abdominal structures.

Published in:

Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 137, doi. 10.1002/uog.19613

By:

Dellapiana, G.;
Lee, E.;
Datkhaeva, I.;
Scibetta, E.;
Han, C.S.;
Platt, L.D.

Publication type:

Article

EP12.01: Noonan syndrome: new features.

Published in:

2016

By:

Bouchghoul, H.;
Colmant, C.;
Senat, M.;
Roume, J.;
Labrune, P.;
Bault, J.

Publication type:

journal article

P18.12: Maternal mirror syndrome associated with fetal Noonan syndrome.

Published in:

Ultrasound in Obstetrics & Gynecology, 2009, v. 34, n. S1, p. 250, doi. 10.1002/uog.7265

By:

Mulic-Lutvica, A.;
Anereén, G.;
Belachew, J.;
Eurenius, K.

Publication type:

Article

Incidental Discovery of Complications of Cryptorchidism During Laparoscopic Inguinal Hernia Surgery.

Published in:

2025

By:

Sato, Keita;
Hashiba, Natsuki;
Takahashi, Koji;
Shibuya, Hirotaka;
Bergeron, Eric

Publication type:

Case Study

Acute Gastric Dilatation: A Transient Cause of Hepatic Portal Venous Gas--Case Report and Review of the Literature.

Published in:

Case Reports in Gastrointestinal Medicine, 2013, p. 1, doi. 10.1155/2013/723160

By:

Allaparthi, Satya B.;
Anand, Curuchi P.

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

LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria.

Published in:

2011

By:

Carcavilla, Atilano;
Pinto, Isabel;
Muñoz-Pacheco, Rafael;
Barrio, Raquel;
Martin-Frías, Maria;
Ezquieta, Begoña;
Muñoz-Pacheco, Rafael;
Martin-Frías, Maria;
Ezquieta, Begoña

Publication type:

journal article

Loose anagen hair syndrome with diffuse woolly hair phenotype: A rare association.

Published in:

2016

By:

Arshdeep;
Mahajan, Rahul;
De, Dipankar;
Handa, Sanjeev

Publication type:

Case Study

Type A woolly hair nevus.

Published in:

2014

By:

Thomas, Jayakar;
Ragavi Sindhu, B.;
Dinesh, Devaraj Kumar;
Parimalam, Kumar

Publication type:

Case Study

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

Near Adult Height and Body Mass Index Changes in Growth Hormone Treated Short Children with Noonan Syndrome: The Belgian Experience.

Published in:

Hormone Research in Paediatrics, 2025, v. 98, n. 2, p. 193, doi. 10.1159/000538034

By:

De Schepper, Jean;
Thomas, Muriel;
Huysentruyt, Koen;
Becker, Marianne;
Boros, Emese;
Casteels, Kristina;
Chivu, Olimpia;
De Waele, Kathleen;
Dotremont, Hilde;
Lysy, Philippe A.;
Massa, Guy;
Parent, Anne-Simone;
Rochtus, Anne;
Gies, Inge

Publication type:

Article

Delayed Puberty Phenotype Observed in Noonan Syndrome Is More Pronounced in Girls than Boys.

Published in:

Hormone Research in Paediatrics, 2022, v. 95, n. 1, p. 51, doi. 10.1159/000522670

By:

Rezende, Raissa C.;
Noronha, Renata Maria;
Keselman, Ana;
Quedas, Elisangela P.S.;
Dantas, Naiara C.B.;
Andrade, Nathalia L.M.;
Bertola, Debora R.;
Malaquias, Alexsandra C.;
Jorge, Alexander A.L.

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

Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype–Phenotype Correlations.

Published in:

Cancers, 2023, v. 15, n. 4, p. 1217, doi. 10.3390/cancers15041217

By:

Peduto, Cristina;
Zanobio, Mariateresa;
Nigro, Vincenzo;
Perrotta, Silverio;
Piluso, Giulio;
Santoro, Claudia

Publication type:

Article

Gowers' intrasyringeal hemorrhage associated with Chiari type I malformation in Noonan syndrome.

Published in:

2014

By:

Takafumi Mitsuhara;
Satoshi Yamaguchi;
Masaaki Takeda;
Kaoru Kurisu

Publication type:

Case Study

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

Anesthetic management in a pediatric patient with Noonan syndrome and pulmonary stenosis: a case report.

Published in:

2016

By:

Mukherjee, Maitreyee;
Chanda, Debalpana

Publication type:

Case Study

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

Anaesthetic Considerations in a Patient with Neurofibromatosis.

Published in:

Indian Anaesthetists' Forum, 2011, p. 1

By:

Raghove, Punam;
Singh, Karampal;
Lal, Jatin;
Taxak, Susheela;
Ahlawat, Geeta

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

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

Long Term Memory Profile of Disorders Associated with Dysregulation of the RAS-MAPK Signaling Cascade.

Published in:

Behavior Genetics, 2011, v. 41, n. 3, p. 423, doi. 10.1007/s10519-011-9446-5

By:

Alfieri, Paolo;
Cesarini, Laura;
Mallardi, Maria;
Piccini, Giorgia;
Caciolo, Cristina;
Leoni, Chiara;
Mirante, Nadia;
Pantaleoni, Francesca;
Digilio, Maria;
Gambardella, Maria;
Tartaglia, Marco;
Vicari, Stefano;
Mercuri, Eugenio;
Zampino, Giuseppe

Publication type:

Article

Increased Prevalence of Ametropia in Children With Neurofibromatosis Type 1 Disease.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 1, p. 113, doi. 10.1177/0883073813520504

By:

Dotan, Gad;
Keren, Shay;
Stolovitch, Chaim;
Toledano-Alhadef, Hagit;
Kesler, Anat

Publication type:

Article