Works matching Smith-Lemli-Opitz syndrome

Results: 266

Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome.

Published in:

Congenital Heart Disease, 2017, v. 12, n. 4, p. 475, doi. 10.1111/chd.12471

By:

Prosnitz, Aaron R.;
Leopold, Jane;
Irons, Mira;
Jenkins, Kathy;
Roberts, Amy E.

Publication type:

Article

Smith-Lemli-Opitz syndrome presenting as acute adrenal crisis in a child: a case report.

Published in:

2018

By:

Jayamanne, Chamara;
Sandamal, Sajith;
Jayasundara, Kasun;
Saranavabavananthan, Mayoorathy;
Mettananda, Sachith

Publication type:

journal article

Surgical implications of the Smith-Lemli-Opitz syndrome.

Published in:

2005

By:

Craigie, R. J.;
Ba'ath, M.;
Fryer, A.;
Baillie, C.

Publication type:

journal article

Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome.

Published in:

International Journal of Molecular Sciences, 2018, v. 19, n. 1, p. 141, doi. 10.3390/ijms19010141

By:

Peng, Yunhui;
Myers, Rebecca;
Zhang, Wenxing;
Alexov, Emil

Publication type:

Article

7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome.

Published in:

Pflügers Archiv: European Journal of Physiology, 2016, v. 468, n. 8, p. 1403, doi. 10.1007/s00424-016-1851-4

By:

Balajthy, András;
Somodi, Sándor;
Pethő, Zoltán;
Péter, Mária;
Varga, Zoltán;
Szabó, Gabriella;
Paragh, György;
Vígh, László;
Panyi, György;
Hajdu, Péter

Publication type:

Article

SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2015, v. 64, n. 1, p. 34, doi. 10.37897/rjp.2015.1.7

By:

Iurian, Sorin Ioan;
Ognean, Livia;
Brunner, Han;
Kluijtmans, Leo;
Jira, Petr;
Fintina, Dana;
Mehedintu, Bogdan Ionut

Publication type:

Article

Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report.

Published in:

Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00924-2

By:

Delvecchio, Maurizio;
Rapone, Biagio;
Simonetti, Simonetta;
Fecarotta, Simona;
De Carlo, Graziana;
Favoino, Elvira;
Loverro, Maria Teresa;
Romano, Anna Maria Isdraele;
Taurino, Federica;
Di Naro, Edoardo;
Gnoni, Antonio

Publication type:

Article

Smith-Lemli-Opitz Syndrome and the Difficult Airway Algorithm.

Published in:

International Student Journal of Nurse Anesthesia, 2016, v. 15, n. 3, p. 22

By:

Gianitsis II, John A.

Publication type:

Article

Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas.

Published in:

2014

By:

Demirdöven, Mehmet;
Yazgan, Hamza;
Korkmaz, Mevlit;
Gebeşçe, Arzu;
Tonbul, Alparslan

Publication type:

Case Study

GC-MS as a tool for reliable non-invasive prenatal diagnosis of Smith-Lemli-Opitz syndrome but essential also for other cholesterolopathies verification.

Published in:

Ginekologia Polska, 2020, v. 91, n. 5, p. 287, doi. 10.5603/GP.2020.0049

By:

Jezela-Stanek, Aleksandra;
Siejka, Anna;
Kowalska, Ewa M.;
Hosiawa, Violetta;
Krajewska-Walasek, Malgorzata

Publication type:

Article

Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 3, p. 277, doi. 10.1038/ejhg.2014.87

By:

Witsch-Baumgartner, Martina;
Lanthaler, Barbara

Publication type:

Article

Smith-Lemli-Opitz-syndrome: How different is the anesthetic technique?

Published in:

2014

By:

Govindarajan, Srinivasa Raghavan;
Khanna, Puneet;
Bhalla, Amar P.;
Kumar, Anil

Publication type:

Letter to the Editor

Biochemical and genetic diagnosis of Smith-Lemli- Opitz syndrome in South Africa.

Published in:

South African Journal of Child Health, 2015, v. 9, n. 1, p. 23, doi. 10.7196/SAJCH.771

By:

Solomon, G. A. E.;
Jones, G.;
de Jong, G.;
Marais, A. D.

Publication type:

Article

Prenatal diagnosis of Smith-Lemli-Opitz syndrome based on recognition of fetal ambiguous genitalia in association with congenital heart disease.

Published in:

Prenatal Cardiology, 2023, p. 1, doi. 10.5114/pcard.2023.135889

By:

Murlewska, Julia;
Witkowski, Sławomir;
Gach, Agnieszka;
Respondek-Liberska, Maria;
Strzelecka, Iwona

Publication type:

Article

Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.

Published in:

Clinical Genetics, 2017, v. 92, n. 3, p. 342, doi. 10.1111/cge.12990

By:

Moosa, Shahida;
Loeys, Bart;
Altmüller, Janine;
Mortier, Geert;
Nürnberg, Peter;
Li, Yun;
Wollnik, Bernd;
Vogel, Ida

Publication type:

Article

SMITH-LEMLI-OPITZ SYNDROME WITH SEVERE INVOLVEMENT OF THE ORAL CAVITY IN A TEENAGER.

Published in:

2016

By:

Diaconescu, Smaranda;
Traci, Elena;
Gimiga, Nicoleta;
Bolat, Maria;
Vascu, Ana Maria Fătu;
Olaru, Claudia;
Iordache, Cristina;
Sinitchi, Georgeta;
Olteanu, Daniel;
Cuciuc, Carmina;
Trandafir, Laura

Publication type:

Case Study

Precholesterol Sterols Accumulate in Lipid Rafts of Patients with Smith-Lemli-Opitz Syndrome and X-linked Dominant Chondrodysplasia Punctata.

Published in:

Pediatric & Developmental Pathology, 2008, v. 11, n. 2, p. 128, doi. 10.2350/06-10-0179.1

By:

Rakheja, Dinesh;
Boriack, Richard L.

Publication type:

Article

Photosensitive Smith–Lemli–Opitz syndrome is not caused by a single gene mutation: analysis of the gene encoding 7-dehydrocholesterol reductase in five U.K. families.

Published in:

British Journal of Dermatology, 2005, v. 153, n. 4, p. 774, doi. 10.1111/j.1365-2133.2005.06761.x

By:

Anstey, A. V.;
Azurdia, R. M.;
Rhodes, L. E.;
Pearse, A. D.;
Bowden, P. E.

Publication type:

Article

MALE PSEUDOHERMAPHRODITISM CAUSED BY AN INBORN ERROR IN CHOLESTEROL BIOSYNTHESIS: SMITH-LEMLI-OPITZ SYNDROME.

Published in:

Acta Endocrinologica (1841-0987), 2006, v. 2, n. 3, p. 365, doi. 10.4183/aeb.2006.365

By:

Răducanu-Lichiardopol, Corina;
Busuioc, Cristina;
Băcănoiu, Manuela;
Coletă, Elena;
Stăicu#x1E63;, Olimpia;
Bătăiosu, C.;
Mixich, F.;
Tudorache, Ṣtefania;
Tănase, Florentina;
Vasile, Mihaela

Publication type:

Article

A reliable tool for detecting 7‐dehydrocholesterol and cholesterol in human plasma and its use in diagnosis of Smith–Lemli–Opitz syndrome.

Published in:

Journal of Separation Science, 2022, v. 45, n. 5, p. 1080, doi. 10.1002/jssc.202100594

By:

Luo, Yitao;
Liu, Zhengyuan;
Zeng, Yujie;
Zhang, Yuxiao;
Luan, Yujing;
Ma, Li;
Chen, Li;
Zou, Lin;
Yang, Jingmin;
Huang, Zhibin;
Rao, Yulan;
Zhang, Chengqiang

Publication type:

Article

A patient with Smith–Lemli–Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement.

Published in:

2010

By:

Szabó, Gabriella P.;
Oláh, Anna V.;
Kozak, Libor;
Balogh, Erzsébet;
Nagy, Andrea;
Blahakova, Ivona;
Oláh, Éva

Publication type:

Report

Immunohistochemical and Microarray Analyses of a Mouse Model for the Smith-Lemli-Opitz Syndrome.

Published in:

Developmental Neuroscience, 2005, v. 27, n. 6, p. 378, doi. 10.1159/000088453

By:

Waage-Baudet, H.;
Dunty Jr., W. C.;
Dehart, D. B.;
Hiller, S.;
Sulik, K. K.

Publication type:

Article

Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the DHCR7 Gene in a 73-Year-Old Woman: Report of the Oldest Patient.

Published in:

Molecular Syndromology, 2024, v. 15, n. 4, p. 317, doi. 10.1159/000536343

By:

Yılmaz, Mustafa;
Bebek, Ogun;
Turkyilmaz, Ayberk

Publication type:

Article

R352Q mutation of the DHCR7 gene is common among Japanese Smith–Lemli–Opitz syndrome patients.

Published in:

Journal of Human Genetics, 2005, v. 50, n. 7, p. 353, doi. 10.1007/s10038-005-0267-3

By:

Matsumoto, Yoshiyuki;
Morishima, Ken-ichi;
Honda, Akira;
Watabe, Shoji;
Yamamoto, Misa;
Hara, Masayuki;
Hasui, Masaki;
Saito, Chikako;
Takayanagi, Toshimitsu;
Yamanaka, Tsutomu;
Saito, Nakamichi;
Kudo, Hideaki;
Okamoto, Nobuhiko;
Tsukahara, Masato;
Matsuura, Shinya

Publication type:

Article

Smith-Lemli-Opitz syndrome among Arabs.

Published in:

Clinical Genetics, 2012, v. 82, n. 2, p. 165, doi. 10.1111/j.1399-0004.2011.01742.x

By:

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

Publication type:

Article

Prenatal diagnosis of Smith-Lemli-Opitz syndrome.

Published in:

2014

By:

Uysal, Nihal Şahin;
ülümser, Çağrı;
Yanık, Filiz Fatma;
Ünal, Esra;
Öte, Okan;
Yılmaz, Zerrin;
Tuğcu, Ulaş;
Ecevit, Ayşe

Publication type:

Abstract

Sterol profiles in plasma and erythrocyte membranes in patients with Smith-Lemli-Opitz syndrome: a six-year experience.

Published in:

Clinical Chemistry & Laboratory Medicine, 2011, v. 49, n. 12, p. 2039, doi. 10.1515/CCLM.2011.689

By:

Corso, Gaetano;
Gelzo, Monica;
Barone, Rosalba;
Clericuzio, Stefano;
Pianese, Pierluigi;
Nappi, Angela;
Russo, Antonio Dello

Publication type:

Article

Identification of a Novel DHCR7 Mutation in a Korean Patient With Smith-Lemli-Opitz Syndrome.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 11, p. 1297, doi. 10.1177/0883073807307099

By:

Jong Hee Chae;
Ki Joong Kim;
Yong Seung Hwang;
Chang-Seok Ki;
Jong-Won Kim

Publication type:

Article

Prenatal Diagnosis of Smith–Lemli–Opitz Syndrome.

Published in:

Ultrasound, 2008, v. 16, n. 4, p. 208, doi. 10.1179/174313408X353855

By:

Witters, Ingrid;
Moerman, Philippe;
Cannie, Mieke;
Catte, Luc De;
Fryns, Jean-Pierre

Publication type:

Article

Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS).

Published in:

Documenta Ophthalmologica, 2010, v. 121, n. 2, p. 85, doi. 10.1007/s10633-010-9232-3

By:

Garry, Deirdre;
Hansen, Ronald;
Moskowitz, Anne;
Elias, Ellen R.;
Irons, Mira;
Fulton, Anne B.

Publication type:

Article

Biochemical Abnormality Associated with Smith-Lemli-Opitz Syndrome in an Infant with Features of Rutledge Multiple Congenital Anomaly Syndrome Confirms that the Latter Is a Variant of the Former.

Published in:

Pediatric & Developmental Pathology, 2003, v. 6, n. 3, p. 270, doi. 10.1007/s10024-002-1116-4

By:

Rakheja, Dinesh;
Wilson, Golder N.;
Rogers, Beverly B.

Publication type:

Article

Characterization of photosensitivity in the Smith–Lemli–Opitz syndrome: a new congenital photosensitivity syndrome.

Published in:

British Journal of Dermatology, 1999, v. 141, n. 3, p. 406, doi. 10.1046/j.1365-2133.1999.03032.x

By:

Anstey;
Ryan;
Rhodes;
Charman;
Arlett;
Tyrrell;
Taylor;
Pearse

Publication type:

Article

Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 5, p. 535, doi. 10.1038/ejhg.2008.10

By:

Porter, Forbes D.

Publication type:

Article

LEMLI OPITZ SYNDROME: A CASE REPORT.

Published in:

2015

By:

Ali, Saima;
Saffiullah;
Ali, Liaqat

Publication type:

Case Study

Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.

Published in:

Clinical Genetics, 2006, v. 69, n. 1, p. 77, doi. 10.1111/j.1399-0004.2006.00551.x

By:

Jezela-Stanek, A.;
Maunowicz, E. M.;
Ciara, E.;
Popowska, E.;
Goryluk-Kozakiewicz, B.;
Spodar, K.;
Czerwiecka, M.;
Jezuita, J.;
Nowaczyk, M. J. M.;
Krajewska-Walasek, M.

Publication type:

Article

The Smith–Lemli–Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology.

Published in:

Clinical Genetics, 2001, v. 59, n. 6, p. 375, doi. 10.1034/j.1399-0004.2001.590601.x

By:

Nowaczyk, MJM;
Waye, JS

Publication type:

Article

LC-MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism.

Published in:

Analytical & Bioanalytical Chemistry, 2015, v. 407, n. 17, p. 5227, doi. 10.1007/s00216-015-8731-1

By:

Becker, S.;
Röhnike, S.;
Empting, S.;
Haas, D.;
Mohnike, K.;
Beblo, S.;
Mütze, U.;
Husain, R.;
Thiery, J.;
Ceglarek, U.

Publication type:

Article

Antenatal therapy of Smith-Lemli-Opitz syndrome.

Published in:

1999

By:

Irons, Mira B.;
Nores, Jose;
Stewart, Theresa L.;
Craigo, Sabrina D.;
Bianchi, Diana W.;
D'Alton, Mary E.;
Tint, G. Stephen;
Salen, Gerald;
Bradley, Linda A.;
Irons, M B;
Nores, J;
Stewart, T L;
Craigo, S D;
Bianchi, D W;
D'Alton, M E;
Tint, G S;
Salen, G;
Bradley, L A

Publication type:

journal article

Airway management of patient with Smith–Lemli–Opitz syndrome for gastric surgery: case report.

Published in:

Pediatric Anesthesia, 2006, v. 16, n. 3, p. 322, doi. 10.1111/j.1460-9592.2005.01685.x

By:

Matveevskii, Alexander;
Berman, Larry;
Sidi, Avner;
Gravenstein, Dietrich;
Kays, David

Publication type:

Article

Biochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients.

Published in:

Biomolecules (2218-273X), 2021, v. 11, n. 8, p. 1228, doi. 10.3390/biom11081228

By:

Koczok, Katalin;
Horváth, László;
Korade, Zeljka;
Mezei, Zoltán András;
Szabó, Gabriella P.;
Porter, Ned A.;
Kovács, Eszter;
Mirnics, Károly;
Balogh, István

Publication type:

Article

Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis.

Published in:

2021

By:

Park, Jong Eun;
Lee, Taeheon;
Ha, Kyeongsu;
Ki, Chang-Seok

Publication type:

journal article

The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.

Published in:

2016

By:

Tucci, Arianna;
Ronzoni, Luisa;
Arduino, Carlo;
Salmin, Paola;
Esposito, Susanna;
Milani, Donatella

Publication type:

Case Study

Intracranial undifferentiated malign neuroglial tumor in Smith-Lemli-Opitz syndrome: A theory of a possible predisposing factor for primary brain tumors via a case report.

Published in:

Child's Nervous System, 2017, v. 33, n. 1, p. 171, doi. 10.1007/s00381-016-3214-z

By:

Aslan, Ayfer;
Borcek, Alp;
Pamukcuoglu, Selma;
Baykaner, M.

Publication type:

Article

Evaluation of mutations in DHCR7 gene in high-risk pregnant women for Smith Lemli Opitz Syndrome during second-trimester screening in Nasiriyah.

Published in:

Magazine of Al-Kufa University for Biology, 2022, v. 14, n. 2, p. 43, doi. 10.36320/ajb/v14.i2.11707

By:

Al-Soofi, Shafaa Jawad;
Zekavati, Roya;
Mohammadi-Asl, Javad

Publication type:

Article

Keeping you on your toes: Smith–Lemli–Opitz Syndrome is an easily missed cause of developmental delays.

Published in:

2023

By:

Coupe, Simone;
Hertzog, Ashley;
Foran, Carolyn;
Tolun, Adviye Ayper;
Suthern, Megan;
Chung, Clara W. T.;
Ellaway, Carolyn

Publication type:

Case Study

First documented case of Smith-Lemli-Opitz syndrome in Syria: clinical presentation, diagnosis, and experimental management with simvastatin.

Published in:

Oxford Medical Case Reports, 2024, v. 2024, n. 11, p. 1, doi. 10.1093/omcr/omae129

By:

Aladia, Alwa Hussien;
Hamdan, Samar;
Alkheder, Ahmad

Publication type:

Article

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

Published in:

European Journal of Pediatrics, 2013, v. 172, n. 5, p. 623, doi. 10.1007/s00431-012-1925-z

By:

Oláh, Anna;
Szabó, Gabriella;
Varga, József;
Balogh, Lídia;
Csábi, Györgyi;
Csákváry, Violetta;
Erwa, Wolfgang;
Balogh, István

Publication type:

Article

Rehabilitación oral de un paciente pediátrico con síndrome de Smith-Lemli-Opitz bajo anestesia general ambulatoria.

Published in:

Universitas Odontológica, 2011, v. 30, n. 64, p. 83

By:

Dorado Castro, Magda;
Fregoso Guevara, Carlos Alberto;
Rubio Carrillo, Ricardo Manuel Sánchez;
Zamudio Gómez, Miguel Alberto

Publication type:

Article

Interference of 7-dehydrocholesterol in α-tocopherol determination by high-performance liquid chromatography: A possible screening test for the smith-lemli-opitz syndrome.

Published in:

Journal of the American Oil Chemists' Society (JAOCS), 1998, v. 75, n. 2, p. 131, doi. 10.1007/s11746-998-0023-x

By:

Michel, F.;
Cristol, J.;
Vernet, M.;
Feillet, C.;
Carbonneau, M.;
Léger, C.;
Castel, J.;
Descomps, B.

Publication type:

Article

Oxysterols and Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome: Implications for an Improved Therapeutic Intervention.

Published in:

Molecules, 2018, v. 23, n. 10, p. 2720, doi. 10.3390/molecules23102720

By:

Fliesler, Steven J.;
Xu, Libin

Publication type:

Article