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Items: 1 to 20 of 76

1.

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
2.

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.

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.

RSH (Smith-Lemli-Opitz) syndrome: "severe" phenotype with ectrodactyly.

de Jong G, Kirby PA, Muller LM.

Am J Med Genet. 1998 Jan 23;75(3):283-7.

PMID:
9475598
5.

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
6.

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
7.

[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
8.

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
9.

Further delineation of the classical Smith-Lemli-Opitz syndrome phenotype at different patient ages: clinical and biochemical studies.

Krajewska-Walasek M, Gradowska W, Ryzko J, Socha P, Chmielik J, Szapłyko W, Kasprzyk J, Górska B, Szreter M, Wolski J, Rysiewski H, Małunowicz EM, Gregorek H, Michałkiewicz J, Pietraszek E, Szapłyko J.

Clin Dysmorphol. 1999 Jan;8(1):29-40. Review.

PMID:
10327249
10.

School in photodermatology: Smith-Lemli-Opitz syndrome.

Anstey A.

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

PMID:
16869869
11.

Smith-Lemli-Opitz syndrome.

Scott JX, Praburam PM.

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

12.

Cardiovascular malformations in Smith-Lemli-Opitz syndrome.

Lin AE, Ardinger HH, Ardinger RH Jr, Cunniff C, Kelley RI.

Am J Med Genet. 1997 Jan 31;68(3):270-8. Review.

PMID:
9024558
13.

[Smith Lemli Opitz Syndrome type II of neonatal diagnosis and review of the most interesting clinical features].

Ramírez-Gómara A, Castejón-Ponce E, Martínez-Martínez M, García-Bodega O, Rite-Gracia S, Segura- Arazuri D, López-Pisón J, Baldellou-Vázquez A, Marco-Tello A, López-López A, Rebage-Moisés V.

Rev Neurol. 2002 May 16-31;34(10):946-50. Review. Spanish.

14.

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
15.

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
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.

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
18.

Phenotypic diversity in the Smith-Lemli-Opitz syndrome.

Seller MJ, Flinter FA, Docherty Z, Fagg N, Newbould M.

Clin Dysmorphol. 1997 Jan;6(1):69-73.

PMID:
9018421
19.

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
20.

Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?

Alkuraya FS, Picker J, Irons MB, Kimonis VE.

Birth Defects Res A Clin Mol Teratol. 2005 Aug;73(8):569-71.

PMID:
15965973

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