141 related articles for article (PubMed ID: 20814261)
1. Autistic spectrum disorder in a 9-year-old girl with macrocephaly.
Stein MT; Elias ER; Saenz M; Pickler L; Reynolds A
J Dev Behav Pediatr; 2010 Sep; 31(7):632-4. PubMed ID: 20814261
[TBL] [Abstract][Full Text] [Related]
2. Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay.
Lynch NE; Lynch SA; McMenamin J; Webb D
Arch Dis Child; 2009 Jul; 94(7):553-4. PubMed ID: 19321504
[TBL] [Abstract][Full Text] [Related]
3. Novel PTEN germline mutation in a family with mild phenotype: difficulties in genetic counseling.
Busa T; Chabrol B; Perret O; Longy M; Philip N
Gene; 2013 Jan; 512(2):194-7. PubMed ID: 23124040
[TBL] [Abstract][Full Text] [Related]
4. Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome.
Ghusayni R; Sachdev M; Gallentine W; Mikati MA; McDonald MT
Epileptic Disord; 2018 Feb; 20(1):30-34. PubMed ID: 29444762
[TBL] [Abstract][Full Text] [Related]
5. Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome.
Busa T; Milh M; Degardin N; Girard N; Sigaudy S; Longy M; Olshchwang S; Sobol H; Chabrol B; Philip N
Eur J Paediatr Neurol; 2015 Mar; 19(2):188-92. PubMed ID: 25549896
[TBL] [Abstract][Full Text] [Related]
6. A family with PTEN mutations with malignancy and an unusually high number of offspring with autism spectrum disorder: a case report.
Gruhl SL; Sharma P; Han TS
J Med Case Rep; 2018 Nov; 12(1):353. PubMed ID: 30482242
[TBL] [Abstract][Full Text] [Related]
7. Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome.
Buisson P; Leclair MD; Jacquemont S; Podevin G; Camby C; David A; Heloury Y
J Pediatr Surg; 2006 Sep; 41(9):1601-3. PubMed ID: 16952599
[TBL] [Abstract][Full Text] [Related]
8. Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy.
Conti S; Condò M; Posar A; Mari F; Resta N; Renieri A; Neri I; Patrizi A; Parmeggiani A
J Child Neurol; 2012 Mar; 27(3):392-7. PubMed ID: 21960672
[TBL] [Abstract][Full Text] [Related]
9. [Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis in a two-year-old girl].
Vibede LD; Jensen UB; Sørensen TH; Pedersen LM
Ugeskr Laeger; 2012 Jun; 174(23):1614-5. PubMed ID: 22673385
[TBL] [Abstract][Full Text] [Related]
10. Intermediate uveitis in a child with phosphatase and tensin homolog gene mutation and Bannayan-Riley-Ruvalcaba syndrome.
Prat D; Ben Bassat Mizrachi I; Vishnevskia-Dai V
BMJ Case Rep; 2019 Feb; 12(2):. PubMed ID: 31603075
[TBL] [Abstract][Full Text] [Related]
11. Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model.
Mester JL; Tilot AK; Rybicki LA; Frazier TW; Eng C
Eur J Hum Genet; 2011 Jul; 19(7):763-8. PubMed ID: 21343951
[TBL] [Abstract][Full Text] [Related]
12. Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome.
Hızarcıoğlu-Gülşen H; Kılıç E; Dominguez-Garrido E; Aydemir Y; Utine GE; Saltık-Temizel İN
Turk J Pediatr; 2017; 59(1):80-83. PubMed ID: 29168369
[TBL] [Abstract][Full Text] [Related]
13. Imaging of PTEN-related abnormalities in the central nervous system.
Dhamija R; Hoxworth JM
Clin Imaging; 2020 Apr; 60(2):180-185. PubMed ID: 31927175
[TBL] [Abstract][Full Text] [Related]
14. Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome.
Peiretti V; Mussa A; Feyles F; Tuli G; Santanera A; Molinatto C; Ferrero GB; Corrias A
J Clin Res Pediatr Endocrinol; 2013; 5(4):261-5. PubMed ID: 24379037
[TBL] [Abstract][Full Text] [Related]
15. Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma.
Zbuk KM; Patocs A; Shealy A; Sylvester H; Miesfeldt S; Eng C
Nat Clin Pract Oncol; 2007 Oct; 4(10):608-12. PubMed ID: 17898811
[TBL] [Abstract][Full Text] [Related]
16. Complex dural arteriovenous fistula in Bannayan-Riley-Ruvalcaba syndrome.
Moon K; Ducruet AF; Crowley RW; Klas K; Bristol R; Albuquerque FC
J Neurosurg Pediatr; 2013 Jul; 12(1):87-92. PubMed ID: 23662932
[TBL] [Abstract][Full Text] [Related]
17. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
Butler MG; Dasouki MJ; Zhou XP; Talebizadeh Z; Brown M; Takahashi TN; Miles JH; Wang CH; Stratton R; Pilarski R; Eng C
J Med Genet; 2005 Apr; 42(4):318-21. PubMed ID: 15805158
[TBL] [Abstract][Full Text] [Related]
18. Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report.
Jenny B; Radovanovic I; Haenggeli CA; Delavelle J; Rüfenacht D; Kaelin A; Blouin JL; Bottani A; Rilliet B
J Neurosurg; 2007 Oct; 107(4 Suppl):307-13. PubMed ID: 17941496
[TBL] [Abstract][Full Text] [Related]
19. Case Report - Multinodular goiter in a patient with Congenital Hypothyroidism and Bannayan-Riley-Ruvalcaba syndrome: the possible synergic role of TPO and PTEN mutation.
Vincenzi G; Petralia IT; Abbate M; Tarantola G; Meroni SLC; Maggiore R; Mari G; Patricelli MG; Schiavo Lena M; Barera G; Vigone MC
Front Endocrinol (Lausanne); 2023; 14():1205785. PubMed ID: 37361526
[TBL] [Abstract][Full Text] [Related]
20. Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis.
Toelle S; Poretti A; Scheer I; Huisman T; Boltshauser E
Neuropediatrics; 2012 Aug; 43(4):221-4. PubMed ID: 22911484
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
