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Items: 20

1.

The efficacy and safety of growth hormone therapy in children with noonan syndrome: a review of the evidence.

Noonan JA, Kappelgaard AM.

Horm Res Paediatr. 2015;83(3):157-66. doi: 10.1159/000369012. Epub 2014 Dec 10. Review.

2.

Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature.

Bader-Meunier B, Cavé H, Jeremiah N, Magerus A, Lanzarotti N, Rieux-Laucat F, Cormier-Daire V.

Semin Arthritis Rheum. 2013 Oct;43(2):217-9. doi: 10.1016/j.semarthrit.2013.04.009. Epub 2013 Jun 17. Review.

PMID:
23786871
3.

Cherubism: best clinical practice.

Papadaki ME, Lietman SA, Levine MA, Olsen BR, Kaban LB, Reichenberger EJ.

Orphanet J Rare Dis. 2012 May 24;7 Suppl 1:S6. doi: 10.1186/1750-1172-7-S1-S6. Epub 2012 May 24. Review.

4.

Chromosome 15q24 microdeletion syndrome.

Magoulas PL, El-Hattab AW.

Orphanet J Rare Dis. 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. Review.

5.

[Molecular genetics of congenital anomaly syndromes (RAS/MAPK syndromes) complicated with malignancies].

Aoki Y, Matsubara Y.

Rinsho Ketsueki. 2010 Jul;51(7):532-8. Review. Japanese. No abstract available.

PMID:
20693773
6.

[Generalized woolly hair: case report and literature review].

Torres T, Machado S, Selores M.

An Bras Dermatol. 2010 Jan-Feb;85(1):97-100. Review. Portuguese.

7.

The molecular genetics of congenital heart disease: a review of recent developments.

Wolf M, Basson CT.

Curr Opin Cardiol. 2010 May;25(3):192-7. doi: 10.1097/HCO.0b013e328337b4ce. Review.

8.

Jacobsen syndrome.

Mattina T, Perrotta CS, Grossfeld P.

Orphanet J Rare Dis. 2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9. Review.

9.

[Children with body length deficiency at birth and at risk of growth deficiency since childhood].

Wiśniewski A.

Pediatr Endocrinol Diabetes Metab. 2009;15(3):210-5. Review. Polish.

PMID:
20384184
10.

Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature.

Lo FS, Lin JL, Kuo MT, Chiu PC, Shu SG, Chao MC, Lee YJ, Lin SP.

Eur J Pediatr. 2009 Aug;168(8):919-23. doi: 10.1007/s00431-008-0858-z. Epub 2008 Oct 29. Review.

PMID:
18958496
11.

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.

Lin AE, Basson CT, Goldmuntz E, Magoulas PL, McDermott DA, McDonald-McGinn DM, McPherson E, Morris CA, Noonan J, Nowak C, Pierpont ME, Pyeritz RE, Rope AF, Zackai E, Pober BR.

Genet Med. 2008 Jul;10(7):469-94. doi: 10.1097GIM.0b013e3181772111. Review.

12.

Leopard syndrome.

Sarkozy A, Digilio MC, Dallapiccola B.

Orphanet J Rare Dis. 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. Review.

13.

Genetics of congenital heart diseases in syndromic and non-syndromic patients: new advances and clinical implications.

Piacentini G, Digilio MC, Sarkozy A, Placidi S, Dallapiccola B, Marino B.

J Cardiovasc Med (Hagerstown). 2007 Jan;8(1):7-11. Review.

PMID:
17255809
14.

Noonan syndrome and related disorders: alterations in growth and puberty.

Noonan JA.

Rev Endocr Metab Disord. 2006 Dec;7(4):251-5. Review.

15.

Congenital syndromes and leukemia: clues to pathogenesis.

Izraeli S.

Rev Clin Exp Hematol. 2003 Sep;7(3):246-60. Review.

PMID:
15024968
16.

Laser-assisted thermal capsulorrhaphy.

Noonan TJ, Tokish JM, Briggs KK, Hawkins RJ.

Arthroscopy. 2003 Oct;19(8):815-9. Review.

PMID:
14551542
17.

HIV-Tat dependent chemotaxis and invasion, key aspects of tat mediated pathogenesis.

Vené R, Benelli R, Noonan DM, Albini A.

Clin Exp Metastasis. 2000;18(7):533-8. Review.

PMID:
11688957
18.

Atrioventricular canal defect without Down syndrome: a heterogeneous malformation.

Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B.

Am J Med Genet. 1999 Jul 16;85(2):140-6. Review.

PMID:
10406667
19.

[Noonan syndrome: an enigma].

Limal JM, Bonnet D, Bouc YL, Leheup B, Lyonnet S.

Arch Pediatr. 1998 Jul;5(7):715-8. Review. French. No abstract available.

PMID:
9759268
20.

King syndrome: further clinical variability and review of the literature.

Graham GE, Silver K, Arlet V, Der Kaloustian VM.

Am J Med Genet. 1998 Jul 7;78(3):254-9. Review.

PMID:
9677061
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