201 related articles for article (PubMed ID: 35840934)
21. Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.
Smith MJ; Isidor B; Beetz C; Williams SG; Bhaskar SS; Richer W; O'Sullivan J; Anderson B; Daly SB; Urquhart JE; Fryer A; Rustad CF; Mills SJ; Samii A; du Plessis D; Halliday D; Barbarot S; Bourdeaut F; Newman WG; Evans DG
Neurology; 2015 Jan; 84(2):141-7. PubMed ID: 25480913
[TBL] [Abstract][Full Text] [Related]
22. Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas.
Kehrer-Sawatzki H; Kluwe L; Friedrich RE; Summerer A; Schäfer E; Wahlländer U; Matthies C; Gugel I; Farschtschi S; Hagel C; Cooper DN; Mautner VF
Hum Genet; 2018 Jul; 137(6-7):543-552. PubMed ID: 30006736
[TBL] [Abstract][Full Text] [Related]
23. Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities.
Yu QX; Zhen L; Lin XM; Wen YJ; Li DZ
Prenat Diagn; 2023 Dec; 43(13):1662-1665. PubMed ID: 37936555
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes.
Perez-Becerril C; Evans DG; Smith MJ
Hum Mutat; 2021 Oct; 42(10):1187-1207. PubMed ID: 34273915
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Pain correlates with germline mutation in schwannomatosis.
Jordan JT; Smith MJ; Walker JA; Erdin S; Talkowski ME; Merker VL; Ramesh V; Cai W; Harris GJ; Bredella MA; Seijo M; Suuberg A; Gusella JF; Plotkin SR
Medicine (Baltimore); 2018 Feb; 97(5):e9717. PubMed ID: 29384852
[TBL] [Abstract][Full Text] [Related]
28. Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?
Ferrari L; Mangano E; Bonati MT; Monterosso I; Capitanio D; Chiappori F; Brambilla I; Gelfi C; Battaglia C; Bordoni R; Riva P
Eur J Hum Genet; 2020 Oct; 28(10):1432-1445. PubMed ID: 32514133
[TBL] [Abstract][Full Text] [Related]
29. Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1.
Witkowski L; Dillon MW; Murphy E; S Lebo M; Mason-Suares H
Mol Genet Genomic Med; 2020 Apr; 8(4):e1180. PubMed ID: 32107864
[TBL] [Abstract][Full Text] [Related]
30. Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1-58 deletion: a case report.
Zhang Z; Chen X; Zhou R; Yin H; Xu J
BMC Pediatr; 2020 May; 20(1):190. PubMed ID: 32357851
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis.
Smith MJ; Bowers NL; Bulman M; Gokhale C; Wallace AJ; King AT; Lloyd SK; Rutherford SA; Hammerbeck-Ward CL; Freeman SR; Evans DG
Neurology; 2017 Jan; 88(1):87-92. PubMed ID: 27856782
[TBL] [Abstract][Full Text] [Related]
33. Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants.
Hutter S; Piro RM; Reuss DE; Hovestadt V; Sahm F; Farschtschi S; Kehrer-Sawatzki H; Wolf S; Lichter P; von Deimling A; Schuhmann MU; Pfister SM; Jones DT; Mautner VF
Acta Neuropathol; 2014 Sep; 128(3):449-52. PubMed ID: 25008767
[No Abstract] [Full Text] [Related]
34. Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients.
Li X; Yao R; Tan X; Li N; Ding Y; Li J; Chang G; Chen Y; Ma L; Wang J; Fu L; Wang X
Clin Genet; 2019 Oct; 96(4):290-299. PubMed ID: 31219622
[TBL] [Abstract][Full Text] [Related]
35. Segmental schwannomatosis: characteristics in 12 patients.
Alaidarous A; Parfait B; Ferkal S; Cohen J; Wolkenstein P; Mazereeuw-Hautier J
Orphanet J Rare Dis; 2019 Aug; 14(1):207. PubMed ID: 31438995
[TBL] [Abstract][Full Text] [Related]
36. NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
De Luca A; Bottillo I; Sarkozy A; Carta C; Neri C; Bellacchio E; Schirinzi A; Conti E; Zampino G; Battaglia A; Majore S; Rinaldi MM; Carella M; Marino B; Pizzuti A; Digilio MC; Tartaglia M; Dallapiccola B
Am J Hum Genet; 2005 Dec; 77(6):1092-101. PubMed ID: 16380919
[TBL] [Abstract][Full Text] [Related]
37. LZTR1-related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis.
Muthusamy K; Mrugala MM; Bendok BR; Dhamija R
Mol Genet Genomic Med; 2021 Jan; 9(1):e1560. PubMed ID: 33269527
[TBL] [Abstract][Full Text] [Related]
38. Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.
Thiel C; Wilken M; Zenker M; Sticht H; Fahsold R; Gusek-Schneider GC; Rauch A
Am J Med Genet A; 2009 Jun; 149A(6):1263-7. PubMed ID: 19449407
[TBL] [Abstract][Full Text] [Related]
39. The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.
Kehrer-Sawatzki H; Farschtschi S; Mautner VF; Cooper DN
Hum Genet; 2017 Feb; 136(2):129-148. PubMed ID: 27921248
[TBL] [Abstract][Full Text] [Related]
40. 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.
Kraoua L; Jaouadi H; Allouche M; Achour A; Kaouther H; Ahmed HB; Chaker L; Maazoul F; Ouarda F; Zaffran S; M'rad R
Mol Genet Genomic Med; 2022 Jul; 10(7):e1954. PubMed ID: 35656879
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]