513 related articles for article (PubMed ID: 28213670)
1. Emerging genotype-phenotype relationships in patients with large NF1 deletions.
Kehrer-Sawatzki H; Mautner VF; Cooper DN
Hum Genet; 2017 Apr; 136(4):349-376. PubMed ID: 28213670
[TBL] [Abstract][Full Text] [Related]
2. Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions.
Kehrer-Sawatzki H; Vogt J; Mußotter T; Kluwe L; Cooper DN; Mautner VF
Neurogenetics; 2012 Aug; 13(3):229-36. PubMed ID: 22581253
[TBL] [Abstract][Full Text] [Related]
3. Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions.
Kehrer-Sawatzki H; Cooper DN
Hum Genet; 2021 Dec; 140(12):1635-1649. PubMed ID: 34535841
[TBL] [Abstract][Full Text] [Related]
4. Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.
Mußotter T; Kluwe L; Högel J; Nguyen R; Cooper DN; Mautner VF; Kehrer-Sawatzki H
BMC Med Genet; 2012 Oct; 13():98. PubMed ID: 23101500
[TBL] [Abstract][Full Text] [Related]
5. High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene.
Kehrer-Sawatzki H; Kluwe L; Sandig C; Kohn M; Wimmer K; Krammer U; Peyrl A; Jenne DE; Hansmann I; Mautner VF
Am J Hum Genet; 2004 Sep; 75(3):410-23. PubMed ID: 15257518
[TBL] [Abstract][Full Text] [Related]
6. Atypical
Kehrer-Sawatzki H; Wahlländer U; Cooper DN; Mautner VF
Genes (Basel); 2021 Oct; 12(10):. PubMed ID: 34681033
[TBL] [Abstract][Full Text] [Related]
7. The NF1 microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease.
Kehrer-Sawatzki H; Bäzner U; Krämer J; Lewerenz J; Pfeiffer C
J Dtsch Dermatol Ges; 2022 Mar; 20(3):273-277. PubMed ID: 35246941
[TBL] [Abstract][Full Text] [Related]
8. Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports.
Vogt J; Nguyen R; Kluwe L; Schuhmann M; Roehl AC; Mußotter T; Cooper DN; Mautner VF; Kehrer-Sawatzki H
J Med Case Rep; 2011 Dec; 5():577. PubMed ID: 22151963
[TBL] [Abstract][Full Text] [Related]
9. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.
Pasmant E; Sabbagh A; Spurlock G; Laurendeau I; Grillo E; Hamel MJ; Martin L; Barbarot S; Leheup B; Rodriguez D; Lacombe D; Dollfus H; Pasquier L; Isidor B; Ferkal S; Soulier J; Sanson M; Dieux-Coeslier A; Bièche I; Parfait B; Vidaud M; Wolkenstein P; Upadhyaya M; Vidaud D;
Hum Mutat; 2010 Jun; 31(6):E1506-18. PubMed ID: 20513137
[TBL] [Abstract][Full Text] [Related]
10. Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical
Büki G; Zsigmond A; Czakó M; Szalai R; Antal G; Farkas V; Fekete G; Nagy D; Széll M; Tihanyi M; Melegh B; Hadzsiev K; Bene J
Front Genet; 2021; 12():673025. PubMed ID: 34168676
[TBL] [Abstract][Full Text] [Related]
11. Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.
Rasmussen SA; Colman SD; Ho VT; Abernathy CR; Arn PH; Weiss L; Schwartz C; Saul RA; Wallace MR
J Med Genet; 1998 Jun; 35(6):468-71. PubMed ID: 9643287
[TBL] [Abstract][Full Text] [Related]
12. Genotype-phenotype correlation in neurofibromatosis type-1: NF1 whole gene deletions lead to high tumor-burden and increased tumor-growth.
Well L; Döbel K; Kluwe L; Bannas P; Farschtschi S; Adam G; Mautner VF; Salamon J
PLoS Genet; 2021 May; 17(5):e1009517. PubMed ID: 33951044
[TBL] [Abstract][Full Text] [Related]
13. The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs).
Upadhyaya M; Spurlock G; Majounie E; Griffiths S; Forrester N; Baser M; Huson SM; Gareth Evans D; Ferner R
Hum Mutat; 2006 Jul; 27(7):716. PubMed ID: 16786508
[TBL] [Abstract][Full Text] [Related]
14. Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted region.
Kehrer-Sawatzki H; Schmid E; Fünsterer C; Kluwe L; Mautner VF
Am J Med Genet A; 2008 Mar; 146A(6):691-9. PubMed ID: 18265407
[TBL] [Abstract][Full Text] [Related]
15. NF1 deletions in S-100 protein-positive and negative cells of sporadic and neurofibromatosis 1 (NF1)-associated plexiform neurofibromas and malignant peripheral nerve sheath tumors.
Perry A; Roth KA; Banerjee R; Fuller CE; Gutmann DH
Am J Pathol; 2001 Jul; 159(1):57-61. PubMed ID: 11438454
[TBL] [Abstract][Full Text] [Related]
16. Internal tumor burden in neurofibromatosis Type I patients with large NF1 deletions.
Kluwe L; Nguyen R; Vogt J; Bengesser K; Mussotter T; Friedrich RE; Jett K; Kehrer-Sawatzki H; Mautner VF
Genes Chromosomes Cancer; 2012 May; 51(5):447-51. PubMed ID: 22294457
[TBL] [Abstract][Full Text] [Related]
17. Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata.
Leppig KA; Kaplan P; Viskochil D; Weaver M; Ortenberg J; Stephens K
Am J Med Genet; 1997 Dec; 73(2):197-204. PubMed ID: 9409873
[TBL] [Abstract][Full Text] [Related]
18. Mechanisms of loss of heterozygosity in neurofibromatosis type 1-associated plexiform neurofibromas.
Steinmann K; Kluwe L; Friedrich RE; Mautner VF; Cooper DN; Kehrer-Sawatzki H
J Invest Dermatol; 2009 Mar; 129(3):615-21. PubMed ID: 18800150
[TBL] [Abstract][Full Text] [Related]
19. Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.
Douglas J; Cilliers D; Coleman K; Tatton-Brown K; Barker K; Bernhard B; Burn J; Huson S; Josifova D; Lacombe D; Malik M; Mansour S; Reid E; Cormier-Daire V; Cole T; ; Rahman N
Nat Genet; 2007 Aug; 39(8):963-5. PubMed ID: 17632510
[TBL] [Abstract][Full Text] [Related]
20. Clinical characterization of children and adolescents with NF1 microdeletions.
Kehrer-Sawatzki H; Kluwe L; Salamon J; Well L; Farschtschi S; Rosenbaum T; Mautner VF
Childs Nerv Syst; 2020 Oct; 36(10):2297-2310. PubMed ID: 32533297
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
