168 related articles for article (PubMed ID: 37361526)
1. 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]
2. PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol.
Piccione M; Fragapane T; Antona V; Giachino D; Cupido F; Corsello G
Am J Med Genet A; 2013 Nov; 161A(11):2902-8. PubMed ID: 24123798
[TBL] [Abstract][Full Text] [Related]
3. 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]
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. Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity.
Laury AR; Bongiovanni M; Tille JC; Kozakewich H; Nosé V
Thyroid; 2011 Feb; 21(2):135-44. PubMed ID: 21190448
[TBL] [Abstract][Full Text] [Related]
6. Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome.
Cameselle-Teijeiro J; Fachal C; Cabezas-Agrícola JM; Alfonsín-Barreiro N; Abdulkader I; Vega-Gliemmo A; Hermo JA
Am J Clin Pathol; 2015 Aug; 144(2):322-8. PubMed ID: 26185318
[TBL] [Abstract][Full Text] [Related]
7. Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.
Zori RT; Marsh DJ; Graham GE; Marliss EB; Eng C
Am J Med Genet; 1998 Dec; 80(4):399-402. PubMed ID: 9856571
[TBL] [Abstract][Full Text] [Related]
8. Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.
Zhou XP; Waite KA; Pilarski R; Hampel H; Fernandez MJ; Bos C; Dasouki M; Feldman GL; Greenberg LA; Ivanovich J; Matloff E; Patterson A; Pierpont ME; Russo D; Nassif NT; Eng C
Am J Hum Genet; 2003 Aug; 73(2):404-11. PubMed ID: 12844284
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases.
Hendriks YM; Verhallen JT; van der Smagt JJ; Kant SG; Hilhorst Y; Hoefsloot L; Hansson KB; van der Straaten PJ; Boutkan H; Breuning MH; Vasen HF; Bröcker-Vriends AH
Fam Cancer; 2003; 2(2):79-85. PubMed ID: 14574156
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.
Lachlan KL; Lucassen AM; Bunyan D; Temple IK
J Med Genet; 2007 Sep; 44(9):579-85. PubMed ID: 17526800
[TBL] [Abstract][Full Text] [Related]
13. Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A.
Golas MM; Auber B; Ripperger T; Pabst B; Schmidt G; Morlot M; Diebold U; Steinemann D; Schlegelberger B; Morlot S
Am J Med Genet A; 2019 Jul; 179(7):1383-1389. PubMed ID: 31062505
[TBL] [Abstract][Full Text] [Related]
14. Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation.
Boccone L; Dessì V; Serra G; Zibordi F; Loudianos G
Am J Med Genet A; 2008 Jan; 146A(2):257-60. PubMed ID: 18080326
[No Abstract] [Full Text] [Related]
15. 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]
16. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
Marsh DJ; Kum JB; Lunetta KL; Bennett MJ; Gorlin RJ; Ahmed SF; Bodurtha J; Crowe C; Curtis MA; Dasouki M; Dunn T; Feit H; Geraghty MT; Graham JM; Hodgson SV; Hunter A; Korf BR; Manchester D; Miesfeldt S; Murday VA; Nathanson KL; Parisi M; Pober B; Romano C; Eng C
Hum Mol Genet; 1999 Aug; 8(8):1461-72. PubMed ID: 10400993
[TBL] [Abstract][Full Text] [Related]
17. Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L; Ni Y; Sesock K; Niazi F; Fletcher B; Chen HJL; LaFramboise T; Eng C
PLoS Genet; 2018 Apr; 14(4):e1007352. PubMed ID: 29684080
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer.
Figer A; Kaplan A; Frydman M; Lev D; Paswell J; Papa MZ; Goldman B; Friedman E
Clin Genet; 2002 Oct; 62(4):298-302. PubMed ID: 12372056
[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]
