Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1944 1
1947 1
1948 5
1950 3
1951 13
1952 10
1953 10
1954 13
1955 12
1956 4
1957 3
1958 9
1959 6
1960 10
1961 9
1962 10
1963 7
1964 9
1965 11
1966 17
1967 16
1968 23
1969 27
1970 17
1971 36
1972 33
1973 32
1974 35
1975 37
1976 41
1977 43
1978 31
1979 45
1980 36
1981 23
1982 25
1983 32
1984 27
1985 44
1986 34
1987 59
1988 34
1989 34
1990 32
1991 25
1992 27
1993 34
1994 35
1995 58
1996 59
1997 73
1998 68
1999 78
2000 87
2001 81
2002 70
2003 82
2004 72
2005 99
2006 106
2007 106
2008 85
2009 96
2010 102
2011 115
2012 122
2013 130
2014 139
2015 131
2016 134
2017 139
2018 136
2019 116
2020 143
2021 184
2022 166
2023 138
2024 171
2025 191
2026 60

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

4,250 results

Results by year

Filters applied: . Clear all
Page 1
MID1-Related Opitz G/BBB Syndrome.
Meroni G. Meroni G. 2004 Dec 17 [updated 2023 Oct 19]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2004 Dec 17 [updated 2023 Oct 19]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301502 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: MID1-related Opitz G/BBB syndrome (MID1-OS) is characterized by facial anomalies (hypertelorism, prominent forehead, widow's peak, broad nasal bridge, anteverted nares), genitourinary abnormalities (hypospadias, cryptorchidism, and hypoplastic/bif …
CLINICAL CHARACTERISTICS: MID1-related Opitz G/BBB syndrome (MID1-OS) is characterized by facial anomalies (hypertelorism, prominent …
Smith-Lemli-Opitz syndrome: Clinical, biochemical, and genetic insights with emerging treatment opportunities.
Kritzer A, Dutta R, Pramparo T, Terner-Rosenthal J, Vig P, Steiner RD. Kritzer A, et al. Genet Med. 2025 Jul;27(7):101450. doi: 10.1016/j.gim.2025.101450. Epub 2025 Apr 29. Genet Med. 2025. PMID: 40314187 Free article. Review.
Smith-Lemli-Opitz syndrome (SLOS), also known as RSH syndrome, is an inborn error of cholesterol biosynthesis first described in 1964. ...
Smith-Lemli-Opitz syndrome (SLOS), also known as RSH syndrome, is an inborn error of cholesterol biosynthesis first described in 1964 …
Smith-Lemli-Opitz syndrome.
DeBarber AE, Eroglu Y, Merkens LS, Pappu AS, Steiner RD. DeBarber AE, et al. Expert Rev Mol Med. 2011 Jul 22;13:e24. doi: 10.1017/S146239941100189X. Expert Rev Mol Med. 2011. PMID: 21777499 Free PMC article. Review.
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multiple congenital malformation and intellectual disability syndrome, with clinical characteristics that encompass a wide spectrum and great variability. ...
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multiple congenital malformation and intellectual disability syndrome, w …
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
Witsch-Baumgartner M, Fitzky BU, Ogorelkova M, Kraft HG, Moebius FF, Glossmann H, Seedorf U, Gillessen-Kaesbach G, Hoffmann GF, Clayton P, Kelley RI, Utermann G. Witsch-Baumgartner M, et al. Am J Hum Genet. 2000 Feb;66(2):402-12. doi: 10.1086/302760. Am J Hum Genet. 2000. PMID: 10677299 Free PMC article.
Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive malformation syndrome, ranges in clinical severity from mild dysmorphism and moderate mental retardation to severe congenital malformation and intrauterine lethality. ...
Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive malformation syndrome, ranges in clinical severity from mild dysmorphism an …
The Smith-Lemli-Opitz syndrome.
Kelley RI, Hennekam RC. Kelley RI, et al. J Med Genet. 2000 May;37(5):321-35. doi: 10.1136/jmg.37.5.321. J Med Genet. 2000. PMID: 10807690 Free PMC article. Review.
The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. ...
The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. ...
Smith-Lemli-Opitz Syndrome.
Sanghera AS, Zeppieri M. Sanghera AS, et al. 2024 Jan 11. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan–. 2024 Jan 11. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan–. PMID: 38261705 Free Books & Documents.
Smith-Lemli-Opitz syndrome (SLOS) is a rare inherited condition characterized by a defect in cholesterol synthesis, resulting in low plasma cholesterol levels and raised levels of precursor 7-dehydrocholesterol (7-DHC). The clinical manifestations result from a deficiency …
Smith-Lemli-Opitz syndrome (SLOS) is a rare inherited condition characterized by a defect in cholesterol synthesis, resulting in low …
Smith-Lemli-Opitz-syndrome.
Gedam R, Shah I, Ali U, Ohri A. Gedam R, et al. Indian J Hum Genet. 2012 May;18(2):235-7. doi: 10.4103/0971-6866.100779. Indian J Hum Genet. 2012. PMID: 23162303 Free PMC article.
Smith-Lemli-Opitz syndrome is an autosomal recessively inherited disorder. A severe defect in cholesterol biosynthesis has been identified leading to abnormally low plasma cholesterol levels and elevated levels of the cholesterol precursor 7-dehydrocholesterol, the result …
Smith-Lemli-Opitz syndrome is an autosomal recessively inherited disorder. A severe defect in cholesterol biosynthesis has been ident …
Auditory phenotype of Smith-Lemli-Opitz syndrome.
Zalewski CK, Sydlowski SA, King KA, Bianconi S, Dang Do A, Porter FD, Brewer CC. Zalewski CK, et al. Am J Med Genet A. 2021 Apr;185(4):1131-1141. doi: 10.1002/ajmg.a.62087. Epub 2021 Feb 2. Am J Med Genet A. 2021. PMID: 33529473 Free PMC article.
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital malformation and intellectual disability syndrome resulting from variants in DHCR7. ...
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital malformation and intellectual disability syndrome res …
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.
Porter FD. Porter FD. Eur J Hum Genet. 2008 May;16(5):535-41. doi: 10.1038/ejhg.2008.10. Epub 2008 Feb 20. Eur J Hum Genet. 2008. PMID: 18285838 Review.
Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome due to a deficiency of 7-dehydrocholesterol reductase (DHCR7). ...
Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome due to a deficiency of 7-dehydrocholesterol reductase (DHCR7). ...
Smith-Lemli-Opitz Syndrome: Bosnian and Herzegovinian Experience.
Begic N, Begic Z, Begic E. Begic N, et al. Balkan J Med Genet. 2021 Jul 27;24(1):99-102. doi: 10.2478/bjmg-2021-0002. eCollection 2021 Jun. Balkan J Med Genet. 2021. PMID: 34447666 Free PMC article.
The aim of this paper is to present a patient with the Smith-Lemli-Opitz syndrome (SLOS), with an overview of the modality of diagnosis, and the treatment of the patient. ...
The aim of this paper is to present a patient with the Smith-Lemli-Opitz syndrome (SLOS), with an overview of the modality of diagnos …
4,250 results