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Results: 1 to 20 of 256

1.

Live birth after PGD with confirmation by a comprehensive approach (karyomapping) for simultaneous detection of monogenic and chromosomal disorders.

Natesan SA, Handyside AH, Thornhill AR, Ottolini CS, Sage K, Summers MC, Konstantinidis M, Wells D, Griffin DK.

Reprod Biomed Online. 2014 Nov;29(5):600-5. doi: 10.1016/j.rbmo.2014.07.007. Epub 2014 Jul 25.

PMID:
25154779
2.

Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome.

Merkens MJ, Sinden NL, Brown CD, Merkens LS, Roullet JB, Nguyen T, Steiner RD.

J Pediatr. 2014 Oct;165(4):836-41.e1. doi: 10.1016/j.jpeds.2014.06.010. Epub 2014 Jul 16.

PMID:
25039049
3.

Variations in EEG discharges predict ADHD severity within individual Smith-Lemli-Opitz patients.

Schreiber JM, Lanham DC, Trescher WH, Sparks SE, Wassif CA, Caffo BS, Porter FD, Tierney E, Gropman AL, Ewen JB.

Neurology. 2014 Jul 8;83(2):151-9. doi: 10.1212/WNL.0000000000000565. Epub 2014 Jun 11.

4.

Cerebellar hypoplasia: differential diagnosis and diagnostic approach.

Poretti A, Boltshauser E, Doherty D.

Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):211-26. doi: 10.1002/ajmg.c.31398. Epub 2014 May 16.

PMID:
24839100
5.

Obstetric, perinatal, and fetal outcomes in pregnancies with false-positive integrated screening results.

Baer RJ, Currier RJ, Norton ME, Flessel MC, Goldman S, Towner D, Jelliffe-Pawlowski LL.

Obstet Gynecol. 2014 Mar;123(3):603-9. doi: 10.1097/AOG.0000000000000145.

PMID:
24499760
6.

Smith-Lemli-Opitz syndrome - clinical consequences for dental care.

Matthews-Brzozowski A, Cudziło D, Kopczyński P, Matthews-Kozanecka M, Rubiś B.

Med Wieku Rozwoj. 2013 Jul-Sep;17(3):253-6.

7.

A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome.

Liu W, Xu L, Lamberson C, Haas D, Korade Z, Porter NA.

J Lipid Res. 2014 Feb;55(2):329-37. doi: 10.1194/jlr.D043877. Epub 2013 Nov 20.

8.

Are low maternal estriol levels a predictor for pro-opiomelanocortin (POMC) deficiency caused by POMC mutation during pregnancy?

Aldemir O, Ozen S, Sanlialp C, Ceylaner S.

Prenat Diagn. 2013 Dec;33(13):1297-8. doi: 10.1002/pd.4226. Epub 2013 Sep 12.

PMID:
24027193
9.

Autism spectrum disorders and inborn errors of metabolism: an update.

Ghaziuddin M, Al-Owain M.

Pediatr Neurol. 2013 Oct;49(4):232-6. doi: 10.1016/j.pediatrneurol.2013.05.013. Epub 2013 Aug 3. Review.

PMID:
23921282
10.

Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome.

Lee RW, Conley SK, Gropman A, Porter FD, Baker EH.

Am J Med Genet A. 2013 Oct;161A(10):2407-19. doi: 10.1002/ajmg.a.36096. Epub 2013 Aug 5.

11.

Probing lipid-protein adduction with alkynyl surrogates: application to Smith-Lemli-Opitz syndrome.

Windsor K, Genaro-Mattos TC, Kim HY, Liu W, Tallman KA, Miyamoto S, Korade Z, Porter NA.

J Lipid Res. 2013 Oct;54(10):2842-50. doi: 10.1194/jlr.M041061. Epub 2013 Jul 4.

12.

Mass spectrometry techniques in the survey of steroid metabolites as potential disease biomarkers: a review.

Gouveia MJ, Brindley PJ, Santos LL, Correia da Costa JM, Gomes P, Vale N.

Metabolism. 2013 Sep;62(9):1206-17. doi: 10.1016/j.metabol.2013.04.003. Epub 2013 May 7. Review.

13.

Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome.

Hall P, Michels V, Gavrilov D, Matern D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):176-8. doi: 10.1016/j.ymgme.2013.04.004. Epub 2013 Apr 10.

PMID:
23628460
14.

Cholesterol metabolism deficiency.

Jira P.

Handb Clin Neurol. 2013;113:1845-50. doi: 10.1016/B978-0-444-59565-2.00054-X. Review.

PMID:
23622407
15.

Prenatal presentation and diagnostic evaluation of suspected Smith-Lemli-Opitz (RSH) syndrome.

Haas D, Haege G, Hoffmann GF, Burgard P.

Am J Med Genet A. 2013 May;161A(5):1008-11. doi: 10.1002/ajmg.a.35837. Epub 2013 Mar 26.

PMID:
23532938
16.

Hypercortisolism and hypothyroidism in an infant with Smith-Lemli-Opitz syndrome.

Kumar S, Suthar R, Panigrahi I.

J Pediatr Endocrinol Metab. 2012;25(9-10):1001-5. doi: 10.1515/jpem-2012-0099.

PMID:
23426833
17.

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
18.

Hidden treasure in an endoscopically retrieved oesophageal trichobezoar.

Renji E, Nathan AK, Dalzell MA.

BMJ Case Rep. 2013 Jan 18;2013. pii: bcr2012007858. doi: 10.1136/bcr-2012-007858.

19.

Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS].

Witsch-Baumgartner M, Sawyer H, Haas D.

Eur J Hum Genet. 2013 Aug;21(8). doi: 10.1038/ejhg.2012.255. Epub 2013 Jan 16. No abstract available.

20.

Relation between biomarkers and clinical severity in patients with Smith-Lemli-Opitz syndrome.

Oláh AV, Szabó GP, Varga J, Balogh L, Csábi G, Csákváry V, Erwa W, Balogh I.

Eur J Pediatr. 2013 May;172(5):623-30. doi: 10.1007/s00431-012-1925-z. Epub 2013 Jan 15.

PMID:
23319240
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