170 related articles for article (PubMed ID: 38689733)
1. Gonadal dysfunction in a man with Noonan syndrome from the
Orsolini F; Pignata L; Baldinotti F; Romano S; Tonacchera M; Canale D
Front Endocrinol (Lausanne); 2024; 15():1354699. PubMed ID: 38689733
[TBL] [Abstract][Full Text] [Related]
2. LZTR1: Genotype Expansion in Noonan Syndrome.
Güemes M; Martín-Rivada Á; Ortiz-Cabrera NV; Martos-Moreno GÁ; Pozo-Román J; Argente J
Horm Res Paediatr; 2019; 92(4):269-275. PubMed ID: 31533111
[TBL] [Abstract][Full Text] [Related]
3. Providing more evidence on LZTR1 variants in Noonan syndrome patients.
Chinton J; Huckstadt V; Mucciolo M; Lepri F; Novelli A; Gravina LP; Obregon MG
Am J Med Genet A; 2020 Feb; 182(2):409-414. PubMed ID: 31825158
[TBL] [Abstract][Full Text] [Related]
4. LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.
Farncombe KM; Thain E; Barnett-Tapia C; Sadeghian H; Kim RH
BMC Med Genomics; 2022 Jul; 15(1):160. PubMed ID: 35840934
[TBL] [Abstract][Full Text] [Related]
5. Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.
Motta M; Fidan M; Bellacchio E; Pantaleoni F; Schneider-Heieck K; Coppola S; Borck G; Salviati L; Zenker M; Cirstea IC; Tartaglia M
Hum Mol Genet; 2019 Mar; 28(6):1007-1022. PubMed ID: 30481304
[TBL] [Abstract][Full Text] [Related]
6. Oligo-astrocytoma in LZTR1-related Noonan syndrome.
Jacquinet A; Bonnard A; Capri Y; Martin D; Sadzot B; Bianchi E; Servais L; Sacré JP; Cavé H; Verloes A
Eur J Med Genet; 2020 Jan; 63(1):103617. PubMed ID: 30664951
[TBL] [Abstract][Full Text] [Related]
7. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
Yamamoto GL; Aguena M; Gos M; Hung C; Pilch J; Fahiminiya S; Abramowicz A; Cristian I; Buscarilli M; Naslavsky MS; Malaquias AC; Zatz M; Bodamer O; Majewski J; Jorge AA; Pereira AC; Kim CA; Passos-Bueno MR; Bertola DR
J Med Genet; 2015 Jun; 52(6):413-21. PubMed ID: 25795793
[TBL] [Abstract][Full Text] [Related]
8. Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Pagnamenta AT; Kaisaki PJ; Bennett F; Burkitt-Wright E; Martin HC; Ferla MP; Taylor JM; Gompertz L; Lahiri N; Tatton-Brown K; Newbury-Ecob R; Henderson A; Joss S; Weber A; Carmichael J; Turnpenny PD; McKee S; Forzano F; Ashraf T; Bradbury K; Shears D; Kini U; de Burca A; ; Blair E; Taylor JC; Stewart H
Clin Genet; 2019 Jun; 95(6):693-703. PubMed ID: 30859559
[TBL] [Abstract][Full Text] [Related]
9. Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.
Uludağ Alkaya D; Lissewski C; Yeşil G; Zenker M; Tüysüz B
Am J Med Genet A; 2021 Dec; 185(12):3623-3633. PubMed ID: 34184824
[TBL] [Abstract][Full Text] [Related]
10. Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
Umeki I; Niihori T; Abe T; Kanno SI; Okamoto N; Mizuno S; Kurosawa K; Nagasaki K; Yoshida M; Ohashi H; Inoue SI; Matsubara Y; Fujiwara I; Kure S; Aoki Y
Hum Genet; 2019 Jan; 138(1):21-35. PubMed ID: 30368668
[TBL] [Abstract][Full Text] [Related]
11. 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; Lan Z; Lin F; Zhang W; Su Z
BMC Endocr Disord; 2021 Jan; 21(1):2. PubMed ID: 33407364
[TBL] [Abstract][Full Text] [Related]
12. Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency.
Moniez S; Pienkowski C; Lepage B; Hamdi S; Daudin M; Oliver I; Jouret B; Cartault A; Diene G; Verloes A; Cavé H; Salles JP; Tauber M; Yart A; Edouard T
Eur J Endocrinol; 2018 Dec; 179(6):409-418. PubMed ID: 30325180
[TBL] [Abstract][Full Text] [Related]
13. The Noonan Syndrome Gene
Sewduth RN; Pandolfi S; Steklov M; Sheryazdanova A; Zhao P; Criem N; Baietti MF; Lechat B; Quarck R; Impens F; Sablina AA
Circ Res; 2020 May; 126(10):1379-1393. PubMed ID: 32175818
[TBL] [Abstract][Full Text] [Related]
14. Gonadal function in Noonan syndrome.
Edouard T; Cartault A
Ann Endocrinol (Paris); 2022 Jun; 83(3):203-206. PubMed ID: 35489412
[TBL] [Abstract][Full Text] [Related]
15. Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome-Associated Cardiomyopathy.
Hanses U; Kleinsorge M; Roos L; Yigit G; Li Y; Barbarics B; El-Battrawy I; Lan H; Tiburcy M; Hindmarsh R; Lenz C; Salinas G; Diecke S; Müller C; Adham I; Altmüller J; Nürnberg P; Paul T; Zimmermann WH; Hasenfuss G; Wollnik B; Cyganek L
Circulation; 2020 Sep; 142(11):1059-1076. PubMed ID: 32623905
[TBL] [Abstract][Full Text] [Related]
16. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Johnston JJ; van der Smagt JJ; Rosenfeld JA; Pagnamenta AT; Alswaid A; Baker EH; Blair E; Borck G; Brinkmann J; Craigen W; Dung VC; Emrick L; Everman DB; van Gassen KL; Gulsuner S; Harr MH; Jain M; Kuechler A; Leppig KA; McDonald-McGinn DM; Can NTB; Peleg A; Roeder ER; Rogers RC; Sagi-Dain L; Sapp JC; Schäffer AA; Schanze D; Stewart H; Taylor JC; Verbeek NE; Walkiewicz MA; Zackai EH; Zweier C; ; Zenker M; Lee B; Biesecker LG
Genet Med; 2018 Oct; 20(10):1175-1185. PubMed ID: 29469822
[TBL] [Abstract][Full Text] [Related]
17. A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.
Nemcikova M; Vejvalkova S; Fencl F; Sukova M; Krepelova A
Eur J Pediatr; 2016 Apr; 175(4):587-92. PubMed ID: 26518681
[TBL] [Abstract][Full Text] [Related]
18. Challenges in genetic diagnosis, co-occurrence of 22q11.2 deletion syndrome and Noonan syndrome.
Chinton J; Huckstadt V; Foncuberta ME; Perez MM; Bonetto MC; Gravina LP; Obregon MG
Am J Med Genet A; 2022 Aug; 188(8):2505-2508. PubMed ID: 35689529
[TBL] [Abstract][Full Text] [Related]
19. Abnormalities of pubertal development and gonadal function in Noonan syndrome.
Patti G; Scaglione M; Maiorano NG; Rosti G; Divizia MT; Camia T; De Rose EL; Zucconi A; Casalini E; Napoli F; Di Iorgi N; Maghnie M
Front Endocrinol (Lausanne); 2023; 14():1213098. PubMed ID: 37576960
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]