236 related articles for article (PubMed ID: 22528600)
1. Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines).
Piard J; Verloes A; Cavé H; Peuchmaur M; Bennaceur S; Leheup B
Am J Med Genet A; 2012 Jun; 158A(6):1406-10. PubMed ID: 22528600
[TBL] [Abstract][Full Text] [Related]
2. Lessons From a Genotype-Phenotype Study About the Clinical Spectrum of Hypertrophic Cardiomyopathy Associated With Noonan Syndrome With Multiple Lentigines and PTPN11-Mutations.
Östman-Smith I
Circ Genom Precis Med; 2023 Aug; 16(4):359-362. PubMed ID: 37325916
[No Abstract] [Full Text] [Related]
3. Noonan Syndrome With Multiple Lentigines.
Martinez-Molina M; Fabregat-Pratdepadua M; Bielsa Marsol I
Actas Dermosifiliogr; 2024 Apr; 115(4):414-416. PubMed ID: 36273552
[No Abstract] [Full Text] [Related]
4. 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; Draaisma JMT; Mylanus EAM; Snik AF; Admiraal RJC; Kunst HPM
Int J Pediatr Otorhinolaryngol; 2017 Jun; 97():228-234. PubMed ID: 28483241
[TBL] [Abstract][Full Text] [Related]
5. A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.
Sarkozy A; Obregon MG; Conti E; Esposito G; Mingarelli R; Pizzuti A; Dallapiccola B
Eur J Hum Genet; 2004 Dec; 12(12):1069-72. PubMed ID: 15470362
[TBL] [Abstract][Full Text] [Related]
6. Genotype-phenotype association by echocardiography offers incremental value in patients with Noonan Syndrome with Multiple Lentigines.
Kauffman H; Ahrens-Nicklas RC; Calderon-Anyosa RJC; Ritter AL; Lin KY; Rossano JW; Quartermain MD; Banerjee A
Pediatr Res; 2021 Aug; 90(2):444-451. PubMed ID: 33318624
[TBL] [Abstract][Full Text] [Related]
7. [Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].
Ejarque I; Millán-Salvador JM; Oltra S; Pesudo-Martínez JV; Beneyto M; Pérez-Aytés A
Rev Neurol; 2015 May; 60(9):408-12. PubMed ID: 25912702
[TBL] [Abstract][Full Text] [Related]
8. Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders.
Lorca R; Pannone L; Cuesta-Llavona E; Bocchinfuso G; Rodríguez-Reguero J; Carpentieri G; Hernando I; Flex E; Tartaglia M; Coto E; Gómez J; Martinelli S
Clin Genet; 2021 Mar; 99(3):457-461. PubMed ID: 33354767
[TBL] [Abstract][Full Text] [Related]
9. Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11).
Qiu W; Wang X; Romanov V; Hutchinson A; Lin A; Ruzanov M; Battaile KP; Pai EF; Neel BG; Chirgadze NY
BMC Struct Biol; 2014 Mar; 14():10. PubMed ID: 24628801
[TBL] [Abstract][Full Text] [Related]
10. Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation.
Yoshida R; Ogata T; Masawa N; Nagai T
Pediatr Blood Cancer; 2008 Jun; 50(6):1274-6. PubMed ID: 18253957
[TBL] [Abstract][Full Text] [Related]
11. Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.
Xu S; Fan Y; Sun Y; Wang L; Gu X; Yu Y
BMC Med Genomics; 2017 Oct; 10(1):62. PubMed ID: 29084544
[TBL] [Abstract][Full Text] [Related]
12. LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.
Carcavilla A; Santomé JL; Pinto I; Sánchez-Pozo J; Guillén-Navarro E; Martín-Frías M; Lapunzina P; Ezquieta B
Rev Esp Cardiol (Engl Ed); 2013 May; 66(5):350-6. PubMed ID: 24775816
[TBL] [Abstract][Full Text] [Related]
13. [New findings in Noonan syndrome and Leopard syndrome: activating mutations in RAF-1 and SOS-1].
Dereure O
Ann Dermatol Venereol; 2008; 135(8-9):624-5. PubMed ID: 18789305
[No Abstract] [Full Text] [Related]
14. [Molecular genetic mutation analysis of the PTPN11 gene in the multiple lentigines (LEOPARD) syndrome].
Froster UG; Glander HJ; Heinritz W
Hautarzt; 2003 Dec; 54(12):1190-2. PubMed ID: 14634749
[TBL] [Abstract][Full Text] [Related]
15. Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.
Kalidas K; Shaw AC; Crosby AH; Newbury-Ecob R; Greenhalgh L; Temple IK; Law C; Patel A; Patton MA; Jeffery S
J Hum Genet; 2005; 50(1):21-25. PubMed ID: 15690106
[TBL] [Abstract][Full Text] [Related]
16. Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.
Rankin J; Short J; Turnpenny P; Castle B; Hanemann CO
Am J Med Genet A; 2013 Aug; 161A(8):2027-9. PubMed ID: 23813970
[TBL] [Abstract][Full Text] [Related]
17. Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors.
Mutesa L; Pierquin G; Janin N; Segers K; Thomée C; Provenzi M; Bours V
Cancer Genet Cytogenet; 2008 Apr; 182(1):40-2. PubMed ID: 18328949
[TBL] [Abstract][Full Text] [Related]
18. [Noonan syndrome and Leopard syndrome linked to mutation of the gene PTPN11].
Dereure O
Ann Dermatol Venereol; 2005 Apr; 132(4):400. PubMed ID: 15886577
[No Abstract] [Full Text] [Related]
19. Common acute lymphoblastic leukemia in a girl with genetically confirmed LEOPARD syndrome.
Laux D; Kratz C; Sauerbrey A
J Pediatr Hematol Oncol; 2008 Aug; 30(8):602-4. PubMed ID: 18799937
[TBL] [Abstract][Full Text] [Related]
20. PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
Bertola DR; Pereira AC; Albano LM; De Oliveira PS; Kim CA; Krieger JE
Genet Test; 2006; 10(3):186-91. PubMed ID: 17020470
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
