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Similar articles for PubMed (Select 23422574)

1.

Smith Lemli-Opitz syndrome: a contribution to the delineation of a cognitive/behavioral phenotype.

De Clemente V, Vitiello G, Imperati F, Romano A, Parente I, Rosa M, Pascarella A, Parenti G, Del Giudice E.

Minerva Pediatr. 2013 Feb;65(1):61-9.

PMID:
23422574
2.

Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome.

Tierney E, Nwokoro NA, Kelley RI.

Ment Retard Dev Disabil Res Rev. 2000;6(2):131-4. Review.

PMID:
10899806
3.

Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome.

Diaz-Stransky A, Tierney E.

Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):295-300. doi: 10.1002/ajmg.c.31342. Epub 2012 Oct 5. Review.

PMID:
23042585
5.

Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome.

Tierney E, Nwokoro NA, Porter FD, Freund LS, Ghuman JK, Kelley RI.

Am J Med Genet. 2001 Jan 15;98(2):191-200.

PMID:
11223857
6.

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

Witsch-Baumgartner M, Fitzky BU, Ogorelkova M, Kraft HG, Moebius FF, Glossmann H, Seedorf U, Gillessen-Kaesbach G, Hoffmann GF, Clayton P, Kelley RI, Utermann G.

Am J Hum Genet. 2000 Feb;66(2):402-12.

7.

Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.

Nowaczyk MJ, Irons MB.

Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):250-62. doi: 10.1002/ajmg.c.31343. Epub 2012 Oct 11. Review.

PMID:
23059950
8.

The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome.

Sikora DM, Pettit-Kekel K, Penfield J, Merkens LS, Steiner RD.

Am J Med Genet A. 2006 Jul 15;140(14):1511-8.

PMID:
16761297
9.

Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature.

Jezela-Stanek A, Ciara E, Malunowicz EM, Korniszewski L, Piekutowska-Abramczuk D, Popowska E, Krajewska-Walasek M.

Eur J Med Genet. 2008 Mar-Apr;51(2):124-40. doi: 10.1016/j.ejmg.2007.11.004. Epub 2007 Dec 8.

PMID:
18249054
10.

Challenging behavior in Smith-Lemli-Opitz syndrome: initial test of biobehavioral influences.

Freeman KA, Eagle R, Merkens LS, Sikora D, Pettit-Kekel K, Nguyen-Driver M, Steiner RD.

Cogn Behav Neurol. 2013 Mar;26(1):23-9. doi: 10.1097/WNN.0b013e31828bf6d5.

11.

Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome.

Tierney E, Conley SK, Goodwin H, Porter FD.

Am J Med Genet A. 2010 Jan;152A(1):91-5. doi: 10.1002/ajmg.a.33148.

12.

Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism.

Anderson AJ, Stephan MJ, Walker WO, Kelley RI.

Am J Med Genet. 1998 Aug 6;78(5):413-8.

PMID:
9714006
13.

Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.

Witsch-Baumgartner M, Gruber M, Kraft HG, Rossi M, Clayton P, Giros M, Haas D, Kelley RI, Krajewska-Walasek M, Utermann G.

J Med Genet. 2004 Aug;41(8):577-84.

14.

Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.

Quélin C, Loget P, Verloes A, Bazin A, Bessières B, Laquerrière A, Patrier S, Grigorescu R, Encha-Razavi F, Delahaye S, Jouannic JM, Carbonne B, D'Hervé D, Aubry MC, Macé G, Harvey T, Ville Y, Viot G, Joyé N, Odent S, Attié-Bitach T, Wolf C, Chevy F, Benlian P, Gonzales M.

Eur J Med Genet. 2012 Feb;55(2):81-90. doi: 10.1016/j.ejmg.2011.12.002. Epub 2011 Dec 22.

PMID:
22226660
15.

[Smith-Lemli-Opitz syndrome and hypothyroidism: the first Venezuelan case].

Lima-Martínez MM, Zerpa J, Gil V.

Invest Clin. 2014 Sep;55(3):260-5. Spanish.

PMID:
25272525
16.

Smith-Lemli-Opitz syndrome among Arabs.

Al-Owain M, Imtiaz F, Shuaib T, Edrees A, Al-Amoudi M, Sakati N, Al-Hassnan Z, Bamashmous H, Rahbeeni Z, Al-Ameer S, Faqeih E, Meyer B, Al-Hashem A, Garout W, Al-Odaib A, Rashed M, Al-Aama JY.

Clin Genet. 2012 Aug;82(2):165-72. doi: 10.1111/j.1399-0004.2011.01742.x. Epub 2011 Jul 18.

PMID:
21696385
17.

Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.

Yu H, Lee MH, Starck L, Elias ER, Irons M, Salen G, Patel SB, Tint GS.

Hum Mol Genet. 2000 May 22;9(9):1385-91. Erratum in: Hum Mol Genet 2000 Jul 22;9(12):1903.

18.

Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome.

Sikora DM, Ruggiero M, Petit-Kekel K, Merkens LS, Connor WE, Steiner RD.

J Pediatr. 2004 Jun;144(6):783-91.

PMID:
15192627
19.

Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry.

Scalco FB, Cruzes VM, Vendramini RC, Brunetti IL, Moretti-Ferreira D.

Braz J Med Biol Res. 2003 Oct;36(10):1327-32. Epub 2003 Sep 16.

20.

Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.

Sparks SE, Wassif CA, Goodwin H, Conley SK, Lanham DC, Kratz LE, Hyland K, Gropman A, Tierney E, Porter FD.

J Inherit Metab Dis. 2014 May;37(3):415-20. doi: 10.1007/s10545-013-9672-5. Epub 2014 Feb 6.

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