Works matching Smith-Lemli-Opitz syndrome
Results: 266
Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome.
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- Congenital Heart Disease, 2017, v. 12, n. 4, p. 475, doi. 10.1111/chd.12471
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- Article
Smith-Lemli-Opitz syndrome presenting as acute adrenal crisis in a child: a case report.
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- 2018
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- journal article
Surgical implications of the Smith-Lemli-Opitz syndrome.
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- 2005
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- journal article
Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 1, p. 141, doi. 10.3390/ijms19010141
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- Article
7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome.
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- Pflügers Archiv: European Journal of Physiology, 2016, v. 468, n. 8, p. 1403, doi. 10.1007/s00424-016-1851-4
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- Article
SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT.
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- Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2015, v. 64, n. 1, p. 34, doi. 10.37897/rjp.2015.1.7
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- Article
Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report.
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- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00924-2
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- Article
Smith-Lemli-Opitz Syndrome and the Difficult Airway Algorithm.
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- International Student Journal of Nurse Anesthesia, 2016, v. 15, n. 3, p. 22
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- Article
Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas.
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- 2014
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- 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.
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- Ginekologia Polska, 2020, v. 91, n. 5, p. 287, doi. 10.5603/GP.2020.0049
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- Article
Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 277, doi. 10.1038/ejhg.2014.87
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- Article
Smith-Lemli-Opitz-syndrome: How different is the anesthetic technique?
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- 2014
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- Letter to the Editor
Biochemical and genetic diagnosis of Smith-Lemli- Opitz syndrome in South Africa.
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- South African Journal of Child Health, 2015, v. 9, n. 1, p. 23, doi. 10.7196/SAJCH.771
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- Article
Prenatal diagnosis of Smith-Lemli-Opitz syndrome based on recognition of fetal ambiguous genitalia in association with congenital heart disease.
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- Prenatal Cardiology, 2023, p. 1, doi. 10.5114/pcard.2023.135889
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- Article
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.
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- Clinical Genetics, 2017, v. 92, n. 3, p. 342, doi. 10.1111/cge.12990
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- Article
SMITH-LEMLI-OPITZ SYNDROME WITH SEVERE INVOLVEMENT OF THE ORAL CAVITY IN A TEENAGER.
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- 2016
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- Publication type:
- Case Study
Precholesterol Sterols Accumulate in Lipid Rafts of Patients with Smith-Lemli-Opitz Syndrome and X-linked Dominant Chondrodysplasia Punctata.
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- Pediatric & Developmental Pathology, 2008, v. 11, n. 2, p. 128, doi. 10.2350/06-10-0179.1
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- 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.
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- British Journal of Dermatology, 2005, v. 153, n. 4, p. 774, doi. 10.1111/j.1365-2133.2005.06761.x
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- Article
MALE PSEUDOHERMAPHRODITISM CAUSED BY AN INBORN ERROR IN CHOLESTEROL BIOSYNTHESIS: SMITH-LEMLI-OPITZ SYNDROME.
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- Acta Endocrinologica (1841-0987), 2006, v. 2, n. 3, p. 365, doi. 10.4183/aeb.2006.365
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- Article
A reliable tool for detecting 7‐dehydrocholesterol and cholesterol in human plasma and its use in diagnosis of Smith–Lemli–Opitz syndrome.
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- Journal of Separation Science, 2022, v. 45, n. 5, p. 1080, doi. 10.1002/jssc.202100594
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- Article
A patient with Smith–Lemli–Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement.
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- 2010
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- Publication type:
- Report
Immunohistochemical and Microarray Analyses of a Mouse Model for the Smith-Lemli-Opitz Syndrome.
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- Developmental Neuroscience, 2005, v. 27, n. 6, p. 378, doi. 10.1159/000088453
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- 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.
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- Molecular Syndromology, 2024, v. 15, n. 4, p. 317, doi. 10.1159/000536343
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- Article
R352Q mutation of the DHCR7 gene is common among Japanese Smith–Lemli–Opitz syndrome patients.
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- Journal of Human Genetics, 2005, v. 50, n. 7, p. 353, doi. 10.1007/s10038-005-0267-3
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- Article
Smith-Lemli-Opitz syndrome among Arabs.
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- Clinical Genetics, 2012, v. 82, n. 2, p. 165, doi. 10.1111/j.1399-0004.2011.01742.x
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- Article
Prenatal diagnosis of Smith-Lemli-Opitz syndrome.
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- 2014
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- Abstract
Sterol profiles in plasma and erythrocyte membranes in patients with Smith-Lemli-Opitz syndrome: a six-year experience.
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- Clinical Chemistry & Laboratory Medicine, 2011, v. 49, n. 12, p. 2039, doi. 10.1515/CCLM.2011.689
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- Article
Identification of a Novel DHCR7 Mutation in a Korean Patient With Smith-Lemli-Opitz Syndrome.
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- Journal of Child Neurology, 2007, v. 22, n. 11, p. 1297, doi. 10.1177/0883073807307099
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- Article
Prenatal Diagnosis of Smith–Lemli–Opitz Syndrome.
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- Ultrasound, 2008, v. 16, n. 4, p. 208, doi. 10.1179/174313408X353855
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- Article
Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS).
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- Documenta Ophthalmologica, 2010, v. 121, n. 2, p. 85, doi. 10.1007/s10633-010-9232-3
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- 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.
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- Pediatric & Developmental Pathology, 2003, v. 6, n. 3, p. 270, doi. 10.1007/s10024-002-1116-4
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- Article
Characterization of photosensitivity in the Smith–Lemli–Opitz syndrome: a new congenital photosensitivity syndrome.
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- British Journal of Dermatology, 1999, v. 141, n. 3, p. 406, doi. 10.1046/j.1365-2133.1999.03032.x
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- Article
Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management.
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- European Journal of Human Genetics, 2008, v. 16, n. 5, p. 535, doi. 10.1038/ejhg.2008.10
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- Article
LEMLI OPITZ SYNDROME: A CASE REPORT.
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- 2015
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- Publication type:
- Case Study
Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.
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- Clinical Genetics, 2006, v. 69, n. 1, p. 77, doi. 10.1111/j.1399-0004.2006.00551.x
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- Article
The Smith–Lemli–Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology.
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- Clinical Genetics, 2001, v. 59, n. 6, p. 375, doi. 10.1034/j.1399-0004.2001.590601.x
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- Article
LC-MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism.
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- Analytical & Bioanalytical Chemistry, 2015, v. 407, n. 17, p. 5227, doi. 10.1007/s00216-015-8731-1
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- Article
Antenatal therapy of Smith-Lemli-Opitz syndrome.
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- 1999
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- Publication type:
- journal article
Airway management of patient with Smith–Lemli–Opitz syndrome for gastric surgery: case report.
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- Pediatric Anesthesia, 2006, v. 16, n. 3, p. 322, doi. 10.1111/j.1460-9592.2005.01685.x
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- Article
Biochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients.
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- Biomolecules (2218-273X), 2021, v. 11, n. 8, p. 1228, doi. 10.3390/biom11081228
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- Article
Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis.
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- 2021
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- Publication type:
- journal article
The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.
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- 2016
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- 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.
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- Child's Nervous System, 2017, v. 33, n. 1, p. 171, doi. 10.1007/s00381-016-3214-z
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- 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.
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- Magazine of Al-Kufa University for Biology, 2022, v. 14, n. 2, p. 43, doi. 10.36320/ajb/v14.i2.11707
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- Article
Keeping you on your toes: Smith–Lemli–Opitz Syndrome is an easily missed cause of developmental delays.
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- 2023
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- Publication type:
- Case Study
First documented case of Smith-Lemli-Opitz syndrome in Syria: clinical presentation, diagnosis, and experimental management with simvastatin.
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- Oxford Medical Case Reports, 2024, v. 2024, n. 11, p. 1, doi. 10.1093/omcr/omae129
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- Article
Relation between biomarkers and clinical severity in patients with Smith-Lemli-Opitz syndrome.
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- European Journal of Pediatrics, 2013, v. 172, n. 5, p. 623, doi. 10.1007/s00431-012-1925-z
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- Publication type:
- Article
Rehabilitación oral de un paciente pediátrico con síndrome de Smith-Lemli-Opitz bajo anestesia general ambulatoria.
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- Universitas Odontológica, 2011, v. 30, n. 64, p. 83
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- 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.
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- Journal of the American Oil Chemists' Society (JAOCS), 1998, v. 75, n. 2, p. 131, doi. 10.1007/s11746-998-0023-x
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- Article
Oxysterols and Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome: Implications for an Improved Therapeutic Intervention.
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- Molecules, 2018, v. 23, n. 10, p. 2720, doi. 10.3390/molecules23102720
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- Publication type:
- Article