Research & Literature
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Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.
Visualize citation networks across 95 referenced papers
Top Authors
- Xiawei Wei Sichuan University
- Yanlin Song Sichuan University
- Bruce D. Gelb Icahn School of Medicine at Mount Sinai
- Martin Zenker University Hospital Magdeburg
- Yoko Aoki Tohoku University
- Marco Tartaglia Bambino Gesù Children's Hospital
- Armelle Yart Centre National de la Recherche Scientifique
- Heidi L. Rehm Mass General Brigham
- Katherine A. Rauen University of California, Davis
- Sue Richards Oregon Health & Science University
Top Institutions
- Bambino Gesù Children's Hospital Rome, Italy Marco Tartaglia , Giulio Calcagni , M. Cristina Digilio , Bruno Marino , Marialetizia Motta , Marco Cappa , Stefano Vicari , Anwar Baban , Giulia Fasano , Antonella Lauri
- Sichuan University Chengdu, China Xiawei Wei , Yanlin Song , Yuquan Wei , Yanqing Lai , Zhenfei Bi , Liang Ouyang , Jing Yang , Xiaoli Pan , Shuai Wen , Aiping Tong
- Children's Hospital of Philadelphia Philadelphia, United States Yoav Dori , Rebecca C. Ahrens‐Nicklas , David M. Biko , Adda Grimberg , Michael J. Fisher , Joseph W. Rossano , Elizabeth Goldmuntz , Jill J. Savla , Mandi Liu , Alyssa L. Rippert
- Stanford University Stanford, United States Jennifer L. Bruno , Yaffa Serur , Chloe McGhee , David A. Stevenson , Michael P. Fischbein , Louanne Hudgins , Bhavana Rai , Chun Liu , Siddhartha Jaiswal , Joyce Teng
- Agostino Gemelli University Polyclinic Rome, Italy Chiara Leoni , Roberta Onesimo , Donato Rigante , Angelica Bibiana Delogu , Francesca Perrino , Valentina Giorgio , Domenica Battaglia , Giuseppe Marangi , Francesco Proli , Giorgio Sodero
- Icahn School of Medicine at Mount Sinai New York, United States Bruce D. Gelb , Brittany Wenger , Lakshmi Mehta , John D. Lantos , Dolores Malaspina , Arvin C. Dar , Madeleine D. Harbison , Christopher Romero , Rebecca Josowitz , Miwa Geiger
- University of California, Los Angeles Los Angeles, United States Roger S. Lo , Edward B. Garon , Gatien Moriceau , Willy Hugo , Wayne W. Grody , Aayoung Hong , Anahid A Assadourian , Julián A. Martínez-Agosto , Marcia Hogeling , Naomi So
- Tohoku University Sendai, Japan Yoko Aoki , Masako Yaoita , Tetsuya Niihori , Shinichi Inoue , Taiki Abe , Ikumi Umeki , Daiju Oba , Shingo Takahara , Haruka Sasaki , Kentaro Mizuta
- Harvard University Cambridge, United States Keith T. Flaherty , Ryan J. Sullivan , Sarah U. Morton , Peta Alexander , Olaf A. Bodamer , Mindy S. Lo , Benjamin G. Neel , Eunyoung Park , Nina B. Gold , Mahwish Haider
- University of California, San Francisco San Francisco, United States Erik M. Ullian , Haipeng Cao , Snehlata Oberoi , Mary E. Norton , Luping Lin , Ophir D. Klein , Robert Krencik , Adam Frost , Erika Yeh , Boris C. Bastian
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References
- 1
SHP2 sails from physiology to pathology.
Tajan M, de Rocca Serra A, Valet P, et al.
European journal of medical genetics 2015; (58(10)):509-25.
PMID: 26341048 - 2
Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.
Calcagni G, Baban A, De Luca E, et al.
American journal of medical genetics. Part A 2016; (170(3)):665-9 doi:10.1002/ajmg.a.37505.
PMID: 26686981 - 3
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.
Yaoita M, Niihori T, Mizuno S, et al.
Human genetics 2016; (135(2)):209-22 doi:10.1007/s00439-015-1627-5.
PMID: 26714497 - 4
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
Kouz K, Lissewski C, Spranger S, et al.
Genetics in medicine : official journal of the American College of Medical Genetics 2016; (18(12)):1226-1234 doi:10.1038/gim.2016.32.
PMID: 27101134 - 5
Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies.
Jhang WK, Choi JH, Lee BH, et al.
Pediatric cardiology 2016; (37(8)):1539-1547 doi:10.1007/s00246-016-1468-6.
PMID: 27554254 - 6
Noonan syndrome - a new survey.
Tafazoli A, Eshraghi P, Koleti ZK, Abbaszadegan M
Archives of medical science : AMS 2017; (13(1)):215-222 doi:10.5114/aoms.2017.64720.
PMID: 28144274 - 7
Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.
van Nierop JWI, van Trier DC, van der Burgt I, et al.
International journal of pediatric otorhinolaryngology 2017; (97()):228-234 doi:10.1016/j.ijporl.2017.04.024.
PMID: 28483241 - 8
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
Ueda K, Yaoita M, Niihori T, et al.
American journal of medical genetics. Part A 2017; (173(9)):2346-2352 doi:10.1002/ajmg.a.38337.
PMID: 28650561 - 9
Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.
Calcagni G, Limongelli G, D'Ambrosio A, et al.
International journal of cardiology 2017; (245()):92-98 doi:10.1016/j.ijcard.2017.07.068.
PMID: 28768581 - 10
Novel approaches to diagnosis and treatment of Juvenile Myelomonocytic Leukemia.
Locatelli F, Algeri M, Merli P, Strocchio L
Expert review of hematology 2018; (11(2)):129-143 doi:10.1080/17474086.2018.1421937.
PMID: 29279013 - 11
Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.
Calcagni G, Limongelli G, D'Ambrosio A, et al.
Data in brief 2018; (16()):649-654 doi:10.1016/j.dib.2017.11.085.
PMID: 29541661 - 12
Cardiovascular disease in Noonan syndrome.
Pierpont ME, Digilio MC
Current opinion in pediatrics 2018; (30(5)):601-608 doi:10.1097/MOP.0000000000000669.
PMID: 30024444 - 13
Long-term results of the modified Konno procedure in high-risk children with obstructive hypertrophic cardiomyopathy.
Laredo M, Khraiche D, Raisky O, et al.
The Journal of thoracic and cardiovascular surgery 2018; (156(6)):2285-2294.e2 doi:10.1016/j.jtcvs.2018.06.040.
PMID: 30104063 - 14
Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1.
Couser NL, Keelean-Fuller D, Davenport ML, et al.
American journal of medical genetics. Part A 2018; (176(9)):2024-2027 doi:10.1002/ajmg.a.40432.
PMID: 30240112 - 15
Predictors of Receipt of School Services in a National Sample of Youth With ADHD.
DuPaul GJ, Chronis-Tuscano A, Danielson ML, Visser SN
Journal of attention disorders 2019; (23(11)):1303-1319 doi:10.1177/1087054718816169.
PMID: 30526188 - 16
The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome.
Koh AL, Tan ES, Brett MS, et al.
Molecular genetics & genomic medicine 2019; (7(4)):e00581 doi:10.1002/mgg3.581.
PMID: 30784236 - 17
Noonan Syndrome in South Africa: Clinical and Molecular Profiles.
Tekendo-Ngongang C, Agenbag G, Bope CD, et al.
Frontiers in genetics 2019; (10()):333 doi:10.3389/fgene.2019.00333.
PMID: 31057598 - 18
Pathogenesis of Growth Failure in Rasopathies.
Aftab S, Dattani MT
Pediatric endocrinology reviews : PER 2019; (16(Suppl 2)):447-458 doi:10.17458/per.vol16.2019.ad.pathogenesisrasopathies.
PMID: 31115196 - 19
Cardiac Manifestations of Noonan Syndrome.
Karnik R, Geiger M
Pediatric endocrinology reviews : PER 2019; (16(Suppl 2)):471-476 doi:10.17458/per.vol16.2019.kpg.manifestationsnoonan.
PMID: 31115199 - 20
Inducible Pluripotent Stem Cell-Derived Cardiomyocytes Reveal Aberrant Extracellular Regulated Kinase 5 and Mitogen-Activated Protein Kinase Kinase 1/2 Signaling Concomitantly Promote Hypertrophic Cardiomyopathy in RAF1-Associated Noonan Syndrome.
Jaffré F, Miller CL, Schänzer A, et al.
Circulation 2019; (140(3)):207-224 doi:10.1161/CIRCULATIONAHA.118.037227.
PMID: 31163979 - 21
RASopathy in Patients With Isolated Sagittal Synostosis.
Davis AA, Zuccoli G, Haredy MM, et al.
Global pediatric health 2019; (6()):2333794X19846774 doi:10.1177/2333794X19846774.
PMID: 31192281 - 22
Neurodevelopmental Aspects of RASopathies.
Kim YE, Baek ST
Molecules and cells 2019; (42(6)):441-447 doi:10.14348/molcells.2019.0037.
PMID: 31250618 - 23
Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.
Biard JM, Steenhaut P, Bernard P, et al.
European journal of obstetrics, gynecology, and reproductive biology 2019; (240()):232-241 doi:10.1016/j.ejogrb.2019.06.035.
PMID: 31336229 - 24
[PTPN11 and the deafness].
Xu HY, Yuan YY, Dai P
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery 2019; (33(9)):830-834 doi:10.13201/j.issn.1001-1781.2019.09.008.
PMID: 31446698 - 25
Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.
Chinton J, Huckstadt V, Moresco A, et al.
Archivos argentinos de pediatria 2019; (117(5)):330-337 doi:10.5546/aap.2019.eng.330.
PMID: 31560489 - 26
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan.
Lee CL, Tan LTH, Lin HY, et al.
American journal of medical genetics. Part A 2020; (182(2)):357-364 doi:10.1002/ajmg.a.61429.
PMID: 31837205 - 27
Noonan syndrome-associated biallelic LZTR1 mutations cause cardiac hypertrophy and vascular malformations in zebrafish.
Nakagama Y, Takeda N, Ogawa S, et al.
Molecular genetics & genomic medicine 2020; (8(3)):e1107 doi:10.1002/mgg3.1107.
PMID: 31883238 - 28
Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.
Linglart L, Gelb BD
American journal of medical genetics. Part C, Seminars in medical genetics 2020; (184(1)):73-80 doi:10.1002/ajmg.c.31765.
PMID: 32022400 - 29
The Noonan Syndrome Gene Lztr1 Controls Cardiovascular Function by Regulating Vesicular Trafficking.
Sewduth RN, Pandolfi S, Steklov M, et al.
Circulation research 2020; (126(10)):1379-1393 doi:10.1161/CIRCRESAHA.119.315730.
PMID: 32175818 - 30
Juvenile myelomonocytic leukemia - A bona fide RASopathy syndrome.
Lasho T, Patnaik MM
Best practice & research. Clinical haematology 2020; (33(2)):101171 doi:10.1016/j.beha.2020.101171.
PMID: 32460983 - 31
Combined cardiac anomalies in Noonan syndrome: A case report.
H S NS, S S, Patil R, et al.
International journal of surgery case reports 2020; (72()):32-36 doi:10.1016/j.ijscr.2020.05.048.
PMID: 32506025 - 32
Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study.
Calcagni G, Gagliostro G, Limongelli G, et al.
Birth defects research 2020; (112(10)):725-731 doi:10.1002/bdr2.1670.
PMID: 32558384 - 33
Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome-Associated Cardiomyopathy.
Hanses U, Kleinsorge M, Roos L, et al.
Circulation 2020; (142(11)):1059-1076 doi:10.1161/CIRCULATIONAHA.119.044794.
PMID: 32623905 - 34
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.
Lissewski C, Chune V, Pantaleoni F, et al.
European journal of human genetics : EJHG 2021; (29(1)):51-60 doi:10.1038/s41431-020-00708-6.
PMID: 32788663 - 35
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations.
Wenger BM, Patel N, Lui M, et al.
Genetics in medicine : official journal of the American College of Medical Genetics 2021; (23(1)):94-102 doi:10.1038/s41436-020-00973-2.
PMID: 32989268 - 36
A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review.
Zhao X, Li Z, Wang L, et al.
BMC endocrine disorders 2021; (21(1)):2 doi:10.1186/s12902-020-00666-6.
PMID: 33407364 - 37
Effect of Growth Hormone Therapy in Patients with Noonan Syndrome: A Retrospective Study.
Apperley LJ, Ramakrishnan R, Dharmaraj P, et al.
International journal of endocrinology and metabolism 2020; (18(4)):e107292 doi:10.5812/ijem.107292.
PMID: 33613679 - 38
Juvenile xanthogranuloma in Noonan syndrome.
Ali MM, Gilliam AE, Ruben BS, et al.
American journal of medical genetics. Part A 2021; (185(10)):3048-3052 doi:10.1002/ajmg.a.62353.
PMID: 34032360 - 39
Noonan syndrome with somnambulism: A rare case report.
Sahu S, Chaudhury S, Saldanha D
Industrial psychiatry journal 2020; (29(2)):339-341 doi:10.4103/ipj.ipj_84_19.
PMID: 34158723 - 40
Psychopathology and Adaptive Functioning in Children, Adolescents, and Young Adults with Noonan Syndrome.
Davico C, Borgogno M, Campagna F, et al.
Journal of developmental and behavioral pediatrics : JDBP 2022; (43(2)):e87-e93 doi:10.1097/DBP.0000000000000991.
PMID: 34269737 - 41
Joint involvement in Noonan syndrome. A retrospective paediatric descriptive study.
Le Quellec A, Edouard T, Audebert-Bellanger S, et al.
Joint bone spine 2022; (89(1)):105270 doi:10.1016/j.jbspin.2021.105270.
PMID: 34534690 - 42
[Cochlear implantation in a patient with Noonan syndrome caused by a variant in PTPN11: a case report].
Hu L, Chen J, Xin Y, et al.
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery 2021; (35(9)):839-842 doi:10.13201/j.issn.2096-7993.2021.09.016.
PMID: 34628841 - 43
Management of cardiac aspects in children with Noonan syndrome - results from a European clinical practice survey among paediatric cardiologists.
Wolf CM, Zenker M, Burkitt-Wright E, et al.
European journal of medical genetics 2022; (65(1)):104372 doi:10.1016/j.ejmg.2021.104372.
PMID: 34757052 - 44
The RASopathies: Biology, genetics and therapeutic options.
Longo JF, Carroll SL
Advances in cancer research 2022; (153()):305-341 doi:10.1016/bs.acr.2021.07.007.
PMID: 35101235 - 45
RASopathies: Dermatologists' viewpoints.
Palit A, Inamadar AC
Indian journal of dermatology, venereology and leprology 2022; (88(4)):452-463.
PMID: 35138057 - 46
An Assessment of the Therapeutic Landscape for the Treatment of Heart Disease in the RASopathies.
Yi JS, Perla S, Bennett AM
Cardiovascular drugs and therapy 2023; (37(6)):1193-1204 doi:10.1007/s10557-022-07324-0.
PMID: 35156148 - 47
The RASopathies: from pathogenetics to therapeutics.
Hebron KE, Hernandez ER, Yohe ME
Disease models & mechanisms 2022; (15(2)) doi:10.1242/dmm.049107.
PMID: 35178568 - 48
Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review.
Sleutjes J, Kleimeier L, Leenders E, et al.
Molecular syndromology 2022; (13(1)):1-11 doi:10.1159/000517605.
PMID: 35221870 - 49
Measuring health care transition: Across time and into the future.
Cheak-Zamora N, Betz C, Mandy T
Journal of pediatric nursing 2022; (64()):91-101 doi:10.1016/j.pedn.2022.02.018.
PMID: 35248956 - 50
Neurological features of Noonan syndrome and related RASopathies: Pain and nerve enlargement characterized by nerve ultrasound.
De Ridder W, van Engelen B, van Alfen N
American journal of medical genetics. Part A 2022; (188(6)):1801-1807 doi:10.1002/ajmg.a.62714.
PMID: 35258168 - 51
Cardiac features of Noonan syndrome in Japanese patients.
Ichikawa Y, Kuroda H, Ikegawa T, et al.
Cardiology in the young 2023; (33(4)):564-569 doi:10.1017/S104795112200124X.
PMID: 35475426 - 52
Epilepsy in a cohort of children with Noonan syndrome and related disorders.
Davico C, D'Alessandro R, Borgogno M, et al.
European journal of pediatrics 2022; (181(8)):2919-2926 doi:10.1007/s00431-022-04497-6.
PMID: 35575813 - 53
Cardiovascular Abnormalities and Gene Mutations in Children With Noonan Syndrome.
Sun L, Xie YM, Wang SS, Zhang ZW
Frontiers in genetics 2022; (13()):915129 doi:10.3389/fgene.2022.915129.
PMID: 35770001 - 54
MR lymphangiography of lymphatic abnormalities in children and adults with Noonan syndrome.
Pieper CC, Wagenpfeil J, Henkel A, et al.
Scientific reports 2022; (12(1)):11164 doi:10.1038/s41598-022-13806-w.
PMID: 35778409 - 55
Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study.
Swarts JW, Kleimeier LER, Leenders EKSM, et al.
American journal of medical genetics. Part A 2022; (188(11)):3242-3261 doi:10.1002/ajmg.a.62955.
PMID: 35979676 - 56
Management of failed Chiari decompression and intrasyringeal hemorrhage in Noonan syndrome: illustrative cases.
Falls CJ, Page PS, Greeneway GP, et al.
Journal of neurosurgery. Case lessons 2022; (3(4)).
PMID: 36130568 - 57
Noonan syndrome caused by RIT1 gene mutation: A case report and literature review.
Zha P, Kong Y, Wang L, et al.
Frontiers in pediatrics 2022; (10()):934808 doi:10.3389/fped.2022.934808.
PMID: 36160792 - 58
Succesful MEK-inhibition of severe hypertrophic cardiomyopathy in RIT1-related Noonan Syndrome.
Leegaard A, Gregersen PA, Nielsen TØ, et al.
European journal of medical genetics 2022; (65(11)):104630 doi:10.1016/j.ejmg.2022.104630.
PMID: 36184070 - 59
Modeling (not so) rare developmental disorders associated with mutations in the protein-tyrosine phosphatase SHP2.
Solman M, Woutersen DTJ, den Hertog J
Frontiers in cell and developmental biology 2022; (10()):1046415 doi:10.3389/fcell.2022.1046415.
PMID: 36407105 - 60
Management of nutritional and gastrointestinal issues in RASopathies: A narrative review.
Onesimo R, Giorgio V, Viscogliosi G, et al.
American journal of medical genetics. Part C, Seminars in medical genetics 2022; (190(4)):478-493 doi:10.1002/ajmg.c.32019.
PMID: 36515923 - 61
Dermatological manifestations, management, and care in RASopathies.
Kavamura MI, Leoni C, Neri G
American journal of medical genetics. Part C, Seminars in medical genetics 2022; (190(4)):452-458 doi:10.1002/ajmg.c.32027.
PMID: 36541891 - 62
Case report: A de novo RASopathy-causing SHOC2 variant in a Chinese girl with noonan syndrome-like with loose anagen hair.
Wang Q, Cheng S, Fu Y, Yuan H
Frontiers in genetics 2022; (13()):1040124 doi:10.3389/fgene.2022.1040124.
PMID: 36579329 - 63
Targeting RAS-RAF-MEK-ERK signaling pathway in human cancer: Current status in clinical trials.
Song Y, Bi Z, Liu Y, et al.
Genes & diseases 2023; (10(1)):76-88 doi:10.1016/j.gendis.2022.05.006.
PMID: 37013062 - 64
Neuropsychiatric phenotypes in children with Noonan syndrome.
Naylor PE, Bruno JL, Shrestha SB, et al.
Developmental medicine and child neurology 2023; (65(11)):1520-1529 doi:10.1111/dmcn.15627.
PMID: 37130201 - 65
RASopathies and cardiac manifestations.
Hilal N, Chen Z, Chen MH, Choudhury S
Frontiers in cardiovascular medicine 2023; (10()):1176828 doi:10.3389/fcvm.2023.1176828.
PMID: 37529712 - 66
Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals
Yıldırım R, Unal E, Özalkak Ş, et al.
Journal of clinical research in pediatric endocrinology 2024; (16(1)):76-83 doi:10.4274/jcrpe.galenos.2023.2023-5-16.
PMID: 37847107 - 67
Bleeding phenotype and hemostatic evaluation by thrombin generation in children with Noonan syndrome: A prospective study.
Barg AA, Yeshayahu Y, Avishai E, et al.
Pediatric blood & cancer 2024; (71(2)):e30761 doi:10.1002/pbc.30761.
PMID: 37974388 - 68
High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome.
Ouboukss F, Adadi N, Amasdl S, et al.
Journal of applied genetics 2024; (65(2)):303-308 doi:10.1007/s13353-023-00803-6.
PMID: 37987971 - 69
A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome.
Onore ME, Caiazza M, Farina A, et al.
Genes 2023; (15(1)) doi:10.3390/genes15010032.
PMID: 38254922 - 70
Phenotypic and genotypic spectrum of noonan syndrome: A retrospective analysis of 46 consecutive pediatric patients presented at a regional cardiac center in China.
Chen Q, Hong D, Huang Y, et al.
Heliyon 2024; (10(5)):e27038 doi:10.1016/j.heliyon.2024.e27038.
PMID: 38463782 - 71
RASopathies for Radiologists.
Handa A, Tsujioka Y, Nishimura G, et al.
Radiographics : a review publication of the Radiological Society of North America, Inc 2024; (44(5)):e230153 doi:10.1148/rg.230153.
PMID: 38602868 - 72
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Dentici ML, Niceta M, Lepri FR, et al.
European journal of human genetics : EJHG 2024; (32(8)):954-963 doi:10.1038/s41431-024-01642-7.
PMID: 38824261 - 73
Noonan Syndrome Growth Charts and Genotypes: 15-Year Longitudinal Single-Centre Study.
Cappa M, Cappa M, d'Aniello F, et al.
Hormone research in paediatrics 2025; (98(6)):655-667 doi:10.1159/000540092.
PMID: 38964306 - 74
MEK inhibitors: a promising targeted therapy for cardiovascular disease.
Mohammed KAK, Madeddu P, Avolio E
Frontiers in cardiovascular medicine 2024; (11()):1404253 doi:10.3389/fcvm.2024.1404253.
PMID: 39011492 - 75
Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features.
Uliana V, Ambrosini E, Taiani A, et al.
Genes 2024; (15(7)) doi:10.3390/genes15070916.
PMID: 39062695 - 76
Response to Recombinant Human Growth Hormone (rhGH) Therapy in Children with Growth Hormone Deficiency.
Riaz M, Ibrahim MN, Rai VR, et al.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2024; (34(8)):932-935 doi:10.29271/jcpsp.2024.08.932.
PMID: 39113512 - 77
Noonan syndrome and Noonan-like syndrome with loose anagen hair: rare phenotypes may emerge during follow-up.
Liu Z, Lai J, Song F
Translational pediatrics 2024; (13(7)):1161-1168 doi:10.21037/tp-24-113.
PMID: 39144424 - 78
Cardiac Phenotype and Gene Mutations in RASopathies.
Faienza MF, Meliota G, Mentino D, et al.
Genes 2024; (15(8)) doi:10.3390/genes15081015.
PMID: 39202376 - 79
The Effects of Growth Hormone Treatment Beyond Growth Promotion in Patients with Genetic Syndromes: A Systematic Review of the Literature.
Kucharska A, Witkowska-Sędek E, Erazmus M, et al.
International journal of molecular sciences 2024; (25(18)) doi:10.3390/ijms251810169.
PMID: 39337654 - 80
The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients-The Experience of University Medical Centre, Ljubljana.
Peterlin A, Bertok S, Writzl K, et al.
Life (Basel, Switzerland) 2024; (14(9)) doi:10.3390/life14091118.
PMID: 39337901 - 81
New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients.
Barbero AIS, Valenzuela I, Fernández-Alvarez P, et al.
American journal of medical genetics. Part A 2025; (197(3)):e63905 doi:10.1002/ajmg.a.63905.
PMID: 39484914 - 82
Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up.
Pascarella A, Limongelli G, De Falco A, et al.
Children (Basel, Switzerland) 2024; (11(11)) doi:10.3390/children11111342.
PMID: 39594917 - 83
Do children with a Noonan syndrome-like RASopathy and avoidant/restrictive food intake disorder benefit from behavioral therapy?
Dumont E, Tiemens DK, Draaisma JMT, et al.
European journal of pediatrics 2024; (184(1)):100 doi:10.1007/s00431-024-05933-5.
PMID: 39710790 - 84
Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.
Yılmaz Uzman C, Gürsoy S, Özkan B, et al.
European journal of pediatrics 2024; (184(1)):108 doi:10.1007/s00431-024-05825-8.
PMID: 39725732 - 85
Impact of pubertal timing on growth progression and final height in subjects affected by RASopathies.
Tamburrino F, Mazzanti L, Gibertoni D, et al.
Frontiers in endocrinology 2024; (15()):1531545 doi:10.3389/fendo.2024.1531545.
PMID: 39897954 - 86
Management strategies for optimal linear growth in Noonan syndrome (NS) children: minireview and case series of three patients with NS due to PTPN11 mutation and confirmed growth hormone deficiency.
Kowalik D, Lewiński A, Stawerska R
Endokrynologia Polska 2024; (75(6)):592-603 doi:10.5603/ep.101588.
PMID: 40091322 - 87
Cardiovascular aspects of Noonan syndrome and related disorders.
Zenker M, Wolf CM
Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 2025; (37(2)):113-124 doi:10.1515/medgen-2025-2010.
PMID: 40207038 - 88
Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review.
Reynolds G, Gazzin A, Carli D, et al.
International journal of molecular sciences 2025; (26(8)) doi:10.3390/ijms26083515.
PMID: 40332000 - 89
Expanding the Genetic Landscape of RASopathies: Significance of Including NF1 in Targeted Panels.
Kendir-Demirkol Y, Yeter B, Eser M, Yarar MH
Molecular syndromology 2025; (16(6)):540-549 doi:10.1159/000545192.
PMID: 41078618 - 90
Non-RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome.
Kim GJ, Malaquias AC, Bertola DR, et al.
American journal of medical genetics. Part A 2026; (200(3)):661-672 doi:10.1002/ajmg.a.64291.
PMID: 41137536 - 91
Clinical and Genetic Characterization of Noonan Syndrome in a Romanian Cohort from Transylvania: Details on PTPN11 c.922A>G Variant and Phenotypic Spectrum.
Nazarie FV, Miclea D, Șufană C, et al.
Diagnostics (Basel, Switzerland) 2025; (15(21)) doi:10.3390/diagnostics15212753.
PMID: 41226044 - 92
Prevalence of neurodevelopmental and psychiatric disorders in Noonan syndrome: a systematic review and meta-analysis.
Pascual-Morena C, Martínez-García I, Lucerón-Lucas-Torres M, et al.
European journal of pediatrics 2025; (184(12)):800 doi:10.1007/s00431-025-06648-x.
PMID: 41310115 - 93
Modified Nuss procedure versus Ravitch in concurrent repair of pectus deformity and open-heart surgery.
Davari H, Asbagh RA, Hosseini S, et al.
Asian cardiovascular & thoracic annals 2026; (34(1)):33-42 doi:10.1177/02184923251404220.
PMID: 41364214 - 94
Phenotypic Analysis of Embryos in a Noonan Syndrome Model Mouse With the Rit1 A57G Mutation.
Suzuki D, Abe T, Niihori T, et al.
Molecular genetics & genomic medicine 2025; (13(12)):e70167 doi:10.1002/mgg3.70167.
PMID: 41388936 - 95
Novel characterization of MRAS mutation-associated Noonan syndrome: Mild adult-onset hypertrophic cardiomyopathy combined with infective endocarditis: A case report.
Mou X, Liu Y, Zhang Y, et al.
Medicine 2026; (105(2)):e46340 doi:10.1097/MD.0000000000046340.
PMID: 41517739