Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 80

1.

Hippocampal hypoplasia in Smith-Lemli-Opitz syndrome.

Grynspan D, Michaud J, Nikkel SM, Creede E, Staines WA.

Pediatr Dev Pathol. 2013 Jul-Aug;16(4):318-20. doi: 10.2350/12-09-1252-LET.1. Epub 2013 May 20. No abstract available.

PMID:
23688395
2.

Smith-Lemli-Opitz syndrome: autopsy with new morphological findings.

Dogan KH, Atabek ME, Demirci S, Unver Dogan N.

J Pediatr Endocrinol Metab. 2010 Nov;23(11):1105-6. No abstract available.

PMID:
21284323
3.

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.

4.

Smith-Lemli-Opitz syndrome, cardiac defects, and spleen anomalies.

Putotto C, Unolt M, Marino D.

Eur J Med Genet. 2013 Feb;56(2):123. doi: 10.1016/j.ejmg.2012.09.008. Epub 2012 Sep 27. No abstract available.

PMID:
23022980
5.

Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome.

Jong Hee Chae, Ki Joong Kim, Yong Seung Hwang, Ki CS, Kim JW.

J Child Neurol. 2007 Nov;22(11):1297-300.

PMID:
18006960
6.

School in photodermatology: Smith-Lemli-Opitz syndrome.

Anstey A.

Photodermatol Photoimmunol Photomed. 2006 Aug;22(4):200-4. Review.

PMID:
16869869
7.

Clinical case: vermis hypoplasia with features of Smith-Lemli-Opitz syndrome.

Koutsouraki E, Markou E, Karlovasitou A, Costa V, Baloyannis S.

Int J Neurosci. 2007 Apr;117(4):443-51.

PMID:
17365127
8.

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.

9.

Smith-Lemli-Opitz syndrome.

Scott JX, Praburam PM.

Indian Pediatr. 2004 May;41(5):512. No abstract available.

10.

Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome.

Ellingson MS, Wick MJ, White WM, Raymond KM, Saenger AK, Pichurin PN, Wassif CA, Porter FD, Babovic-Vuksanovic D.

Clin Genet. 2014 May;85(5):495-7. doi: 10.1111/cge.12209. Epub 2013 Jun 24. No abstract available.

11.

Smith-Lemli-Opitz syndrome: a genetic disorder with pedal manifestations.

Sheff JS.

J Am Podiatr Med Assoc. 2001 Mar;91(3):149-52. Review. No abstract available.

PMID:
11266498
12.

Malignant intracranial germinoma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development.

Oslejskova H, Horinova V, Sterba J, Pavelka Z, Babovic-Vuksanovic D, Dubska L, Valik D.

J Pediatr Hematol Oncol. 2008 Sep;30(9):689-91. doi: 10.1097/MPH.0b013e318180bbde.

PMID:
18776762
13.

[Smith-Lemli-Opitz syndrome].

Pelluard-Nehmé F, Carles D, Alberti EM, Saura R, Wong C, Wolf C.

Ann Pathol. 2005 Sep;25(4):318-21. French.

PMID:
16327658
14.

Epiphyseal stippling is not a feature of 7-dehydrocholesterol reductase deficiency (Smith-Lemli-Opitz syndrome).

Nowaczyk MJ.

Am J Med Genet A. 2011 Apr;155A(4):940-1. doi: 10.1002/ajmg.a.33937. Epub 2011 Mar 15. No abstract available.

PMID:
21595006
15.

Smith-Lemli-Opitz syndrome: further delineation of the phenotype.

Worthington S, Goldblatt J.

Clin Dysmorphol. 1997 Jul;6(3):263-6. No abstract available.

PMID:
9220198
16.

Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype.

Nowaczyk MJ, Farrell SA, Sirkin WL, Velsher L, Krakowiak PA, Waye JS, Porter FD.

Am J Med Genet. 2001 Sep 15;103(1):75-80.

PMID:
11562938
17.

Hippocampal malrotation with normal corpus callosum in a child with Opitz syndrome.

Fitoz S, Atasoy C, Deda G, Erden I, Akyar S.

Clin Imaging. 2003 Mar-Apr;27(2):75-6.

PMID:
12639770
18.

Smith-Lemli-Opitz syndrome: a review, case report and dental implications.

Muzzin KB, Harper LF.

Spec Care Dentist. 2003;23(1):22-7. Review.

PMID:
12887150
19.

Smith-Lemli-Opitz syndrome diagnosed in a 130-year-old anatomical specimen.

Oostra RJ, Baljet B, Schutgens RB, Hennekam RC.

Am J Med Genet. 1997 Jan 31;68(3):257-9.

PMID:
9024555
20.

Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome.

Atchaneeyasakul LO, Linck LM, Connor WE, Weleber RG, Steiner RD.

Am J Med Genet. 1998 Dec 28;80(5):501-5.

PMID:
9880216

Supplemental Content

Support Center