Works matching DE "SMITH-Lemli-Opitz syndrome"

Results: 22

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

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

Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization.

Published in:

Pediatric & Developmental Pathology, 2015, v. 18, n. 4, p. 279, doi. 10.2350/14-04-1465-PB.1

By:

NISTAL, MANUEL;
PANIAGUA, RICARDO;
GONZÁLEZ-PERAMATO,, PILAR;
REYES-MÚGICA, MIGUEL

Publication type:

Article

Development and user evaluation of a rare disease gene prioritization workflow based on cognitive ergonomics.

Published in:

2019

By:

Lee, Jessica J Y;
Karnebeek, Clara D M van;
Wasserman, Wyeth W;
van Karnebeek, Clara D M

Publication type:

journal 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

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

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

Characterization of large deletions in the DHCR7 gene.

Published in:

Clinical Genetics, 2015, v. 88, n. 2, p. 149, doi. 10.1111/cge.12454

By:

Lanthaler, B.;
Hinderhofer, K.;
Maas, B.;
Haas, D.;
Sawyer, H.;
Burton‐Jones, S.;
Carter, K.;
Suri, M.;
Witsch‐Baumgartner, M.

Publication type:

Article

Clinical Pearl: Fentanyl Exposure Syndrome.

Published in:

Neonatology Today, 2023, v. 18, n. 12, p. 189

By:

Hussain, Walid;
Hageman, Joseph R.;
Goldstein, Mitchell;
Clark, Robin D.

Publication type:

Article

LEMLI OPITZ SYNDROME: A CASE REPORT.

Published in:

2015

By:

Ali, Saima;
Saffiullah;
Ali, Liaqat

Publication type:

Case Study

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

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

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

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

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

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

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

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

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

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

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

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