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Page 1
Clinical overview on RASopathies.
Zenker M. Zenker M. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):414-424. doi: 10.1002/ajmg.c.32015. Epub 2022 Nov 25. Am J Med Genet C Semin Med Genet. 2022. PMID: 36428239 Review.
Noonan syndrome and the less frequent, clinically related disorders, Costello syndrome, cardiofaciocutaneous syndrome, Noonan syndrome with multiple lentigines, and Noonan syndrome-like disorder with loose anagen hair are part of the RASopathy spectrum and sh …
Noonan syndrome and the less frequent, clinically related disorders, Costello syndrome, cardiofaciocutaneous syndrome, Noonan syndrome with …
RASopathies: Dermatologists' viewpoints.
Palit A, Inamadar AC. Palit A, et al. Indian J Dermatol Venereol Leprol. 2022 May-Jun;88(4):452-463. doi: 10.25259/IJDVL_799_20. Indian J Dermatol Venereol Leprol. 2022. PMID: 35138057 Free article. Review.
Neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome/loose anagen hair, Legius syndrome, Costello syndrome, cardio-facio-cutaneous syndrome and capillary malformation-arteriovenous malformation are the well-reco …
Neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome/loose anagen hair, …
Loose anagen hair.
Tosti A, Peluso AM, Misciali C, Venturo N, Patrizi A, Fanti PA. Tosti A, et al. Arch Dermatol. 1997 Sep;133(9):1089-93. Arch Dermatol. 1997. PMID: 9301585
OBJECTIVE: To review clinical and pathologic features and the long-term follow-up of patients with loose anagen hair (LAH). DESIGN: Clinical evaluation and long-term follow-up. ...
OBJECTIVE: To review clinical and pathologic features and the long-term follow-up of patients with loose anagen hair (L …
Hair loss in children.
Alves R, Grimalt R. Alves R, et al. Curr Probl Dermatol. 2015;47:55-66. doi: 10.1159/000369405. Epub 2015 Feb 20. Curr Probl Dermatol. 2015. PMID: 26370644 Review.
Central nervous system involvement in individuals with RASopathies.
Weaver KN, Gripp KW. Weaver KN, et al. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):494-500. doi: 10.1002/ajmg.c.32023. Epub 2022 Dec 1. Am J Med Genet C Semin Med Genet. 2022. PMID: 36454176 Review.
However, limited information on the CNS findings of rare RASopathies, such as autosomal recessive LZTR1-related NS or PPP1CB-related NS with loose anagen hair (NSLH), is currently available. Thus, consideration of the RASopathies as a group of distinct syndro …
However, limited information on the CNS findings of rare RASopathies, such as autosomal recessive LZTR1-related NS or PPP1CB-related NS with …
Behavioral profile in RASopathies.
Alfieri P, Piccini G, Caciolo C, Perrino F, Gambardella ML, Mallardi M, Cesarini L, Leoni C, Leone D, Fossati C, Selicorni A, Digilio MC, Tartaglia M, Mercuri E, Zampino G, Vicari S. Alfieri P, et al. Am J Med Genet A. 2014 Apr;164A(4):934-42. doi: 10.1002/ajmg.a.36374. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458522
The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway.
Tajan M, Paccoud R, Branka S, Edouard T, Yart A. Tajan M, et al. Endocr Rev. 2018 Oct 1;39(5):676-700. doi: 10.1210/er.2017-00232. Endocr Rev. 2018. PMID: 29924299 Review.
Noonan syndrome [NS; Mendelian Inheritance in Men (MIM) #163950] and related syndromes [Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome; MIM #151100), Noonan-like syndrome with loose anagen hair (MIM #607721), Costello syndrome (MIM …
Noonan syndrome [NS; Mendelian Inheritance in Men (MIM) #163950] and related syndromes [Noonan syndrome with multiple lentigines (formerly c …
The RASopathies: Biology, genetics and therapeutic options.
Longo JF, Carroll SL. Longo JF, et al. Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7. Adv Cancer Res. 2022. PMID: 35101235
As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multip …
As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syn …
Loose anagen hair syndrome in children of Upper Egypt.
Abdel-Raouf H, El-Din WH, Awad SS, Esmat A, Al-Khiat M, Abdel-Wahab H, Fakahani H, Al-Domyati M, El-Din Anber T, El-Tonsy MH. Abdel-Raouf H, et al. J Cosmet Dermatol. 2009 Jun;8(2):103-7. doi: 10.1111/j.1473-2165.2009.00434.x. J Cosmet Dermatol. 2009. PMID: 19527333
BACKGROUND: Loose anagen hair (LAH) syndrome is a phenomenon in early childhood characterized by the presence of easily pluckable hair, where hair tufts can be pulled out easily and painlessly. ...
BACKGROUND: Loose anagen hair (LAH) syndrome is a phenomenon in early childhood characterized by the presence of easily …
28 results