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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.

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References

  1. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 45

    RASopathies: Dermatologists' viewpoints.

    Palit A, Inamadar AC

    Indian journal of dermatology, venereology and leprology 2022; (88(4)):452-463.

    PMID: 35138057
  46. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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
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