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Items: 1 to 20 of 27

1.

McCune-Albright Syndrome.

Dean L.

In: Pratt V, McLeod H, Dean L, Malheiro A, Rubinstein W, editors. Medical Genetics Summaries [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2012-.
2012 Mar 8 [updated 2017 Mar 6].

2.

Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.

Wimmer K, Rosenbaum T, Messiaen L.

Clin Genet. 2017 Apr;91(4):507-519. doi: 10.1111/cge.12904. Epub 2017 Jan 10. Review.

PMID:
27779754
3.

Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).

Zhang J, Li M, Yao Z.

Mol Med Rep. 2016 Nov;14(5):4023-4029. doi: 10.3892/mmr.2016.5760. Epub 2016 Sep 22. Review.

4.

Downregulation of melanogenesis: drug discovery and therapeutic options.

Pillaiyar T, Manickam M, Jung SH.

Drug Discov Today. 2017 Feb;22(2):282-298. doi: 10.1016/j.drudis.2016.09.016. Epub 2016 Sep 28. Review.

PMID:
27693716
5.

Skin manifestations of growth hormone-induced diseases.

Kanaka-Gantenbein C, Kogia C, Abdel-Naser MB, Chrousos GP.

Rev Endocr Metab Disord. 2016 Sep;17(3):259-267. Review.

PMID:
27571787
6.

Zollinger-Ellison Syndrome Associated with von Recklinghausen Disease: Case Report and Literature Review.

Alshikho MJ, Noureldine SI, Talas JM, Nasimian A, Zazou S, Mobaed B, Nasser M.

Am J Case Rep. 2016 Jun 13;17:398-405. Review.

7.

Neurofibromatosis type 1 associated low grade gliomas: A comparison with sporadic low grade gliomas.

Helfferich J, Nijmeijer R, Brouwer OF, Boon M, Fock A, Hoving EW, Meijer L, den Dunnen WF, de Bont ES.

Crit Rev Oncol Hematol. 2016 Aug;104:30-41. doi: 10.1016/j.critrevonc.2016.05.008. Epub 2016 May 21. Review.

8.

Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome.

Ripperger T, Schlegelberger B.

Eur J Med Genet. 2016 Mar;59(3):133-42. doi: 10.1016/j.ejmg.2015.12.014. Epub 2015 Dec 30. Review.

PMID:
26743104
9.

Diagnosis, Management, and New Therapeutic Options in Childhood Neurofibromatosis Type 2 and Related Forms.

Ruggieri M, Praticò AD, Evans DG.

Semin Pediatr Neurol. 2015 Dec;22(4):240-58. doi: 10.1016/j.spen.2015.10.008. Epub 2015 Oct 28. Review.

PMID:
26706012
10.

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.

Ekvall S, Wilbe M, Dahlgren J, Legius E, van Haeringen A, Westphal O, Annerén G, Bondeson ML.

BMC Med Genet. 2015 Oct 14;16:95. doi: 10.1186/s12881-015-0239-1. Review.

11.

Legius syndrome: case report and review of literature.

Benelli E, Bruno I, Belcaro C, Ventura A, Berti I.

Ital J Pediatr. 2015 Feb 8;41:8. doi: 10.1186/s13052-015-0115-9. Review.

12.

Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome.

Durno CA, Sherman PM, Aronson M, Malkin D, Hawkins C, Bakry D, Bouffet E, Gallinger S, Pollett A, Campbell B, Tabori U; International BMMRD Consortium.

Eur J Cancer. 2015 May;51(8):977-83. doi: 10.1016/j.ejca.2015.02.008. Epub 2015 Apr 13. Review.

PMID:
25883011
13.

[A case of ganglioglioma extended to the lateral ventricle and associated with neurofibromatosis type 1].

Enomoto T, Fukushima Y, Yoshino S, Hirakawa K, Fukushima T, Aoki M, Nabeshima K, Tsugu H, Inoue T.

No Shinkei Geka. 2015 Feb;43(2):147-52. doi: 10.11477/mf.1436202972. Review. Japanese.

PMID:
25672557
14.

The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features.

Ruggieri M, Polizzi A, Spalice A, Salpietro V, Caltabiano R, D'Orazi V, Pavone P, Pirrone C, Magro G, Platania N, Cavallaro S, Muglia M, Nicita F.

Clin Genet. 2015 May;87(5):401-10. doi: 10.1111/cge.12498. Epub 2014 Nov 22. Review.

PMID:
25211147
15.

Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease.

Abramowicz A, Gos M.

Dev Period Med. 2014 Jul-Sep;18(3):297-306. Review.

16.

Neurofibromatosis 1.

Friedman JM.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
1998 Oct 2 [updated 2014 Sep 4].

17.

Renal artery stenosis due to neurofibromatosis type 1: case report and literature review.

Duan L, Feng K, Tong A, Liang Z.

Eur J Med Res. 2014 Mar 28;19:17. doi: 10.1186/2047-783X-19-17. Review.

18.

Acromegaly and McCune-Albright syndrome.

Salenave S, Boyce AM, Collins MT, Chanson P.

J Clin Endocrinol Metab. 2014 Jun;99(6):1955-69. doi: 10.1210/jc.2013-3826. Epub 2014 Feb 11. Review.

19.

Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.

Brems H, Legius E.

Keio J Med. 2013;62(4):107-12. Epub 2013 Dec 10. Review.

20.

Multiple café au lait spots in familial patients with MAP2K2 mutation.

Takenouchi T, Shimizu A, Torii C, Kosaki R, Takahashi T, Saya H, Kosaki K.

Am J Med Genet A. 2014 Feb;164A(2):392-6. doi: 10.1002/ajmg.a.36288. Epub 2013 Dec 5. Review.

PMID:
24311457

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