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1 g those seen in a mouse model of Smith-Lemli-Opitz syndrome.
2 re frequent in myeloid leukemias and Bohring-Opitz syndrome.
3 XL1 mutations occur in patients with Bohring-Opitz syndrome.
4  metabolic disorders such as the Smith-Lemli-Opitz syndrome.
5  delay found in individuals with Smith-Lemli-Opitz syndrome.
6 ve gene for the human developmental disorder Opitz syndrome.
7  cholesterol, such as those with Smith-Lemli-Opitz syndrome.
8  by another group and found to be mutated in Opitz syndrome.
9 astating developmental disorder, Smith-Lemli-Opitz syndrome.
10 lesterol (7-DHC), accumulates in Smith-Lemli-Opitz syndrome, a human genetic disease that phenocopies
11  feature somatic ASXL1 variants, and Bohring-Opitz syndrome, a neurodevelopmental disorder, is caused
12 ulation of alpha4 cleavage may contribute to Opitz syndrome and Alzheimer disease.
13 YSPRY domains is the site of mutants causing Opitz syndrome and familial Mediterranean fever.
14 ay a fundamental role in the pathogenesis of Opitz syndrome and in morphogenetic events at the midlin
15 as levels of cleaved alpha4 are decreased in Opitz syndrome and increased in Alzheimer disease, disor
16 of the cleft palate component of Smith-Lemli-Opitz syndrome and other human malformation syndromes in
17 sis dwf5 phenotype and the human Smith-Lemli-Opitz syndrome are caused by loss-of-function mutations
18 m 7-DHC that also accumulates in Smith-Lemli-Opitz syndrome, blocked Hedgehog signaling by inhibiting
19        De novo ASXL1 mutations cause Bohring-Opitz syndrome characterized by multiple congenital malf
20 malformation syndromes including Smith-Lemli-Opitz syndrome, desmosterolosis, CHILD syndrome, CDPX2 a
21 novel MAP, GLFND, that shows homology to the Opitz syndrome gene product [6], localizes to a subpopul
22  cholesterol, the RSH (so-called Smith-Lemli-Opitz) syndrome has become a paradigmatic metabolic malf
23 l in the plasma of children with Smith-Lemli-Opitz syndrome imply that intermediates in cholesterol s
24                              The Smith-Lemli-Opitz syndrome is a common inherited birth disorder caus
25 alformation syndromes, including Smith-Lemli-Opitz syndrome, lathosterolosis, desmosterolosis, X-link
26 HCR7 expression seen with common Smith-Lemli-Opitz syndrome mutations.
27                                              Opitz syndrome (OS) is a human genetic disease character
28 d by nocodazole or by siRNA knockdown of the Opitz syndrome protein Mid1 that binds alpha-4 to microt
29                        The RSH/Smith--Lemli--Opitz syndrome (RSH/SLOS) is a human autosomal recessive
30                    Patients with Smith-Lemli-Opitz syndrome (SLOS) are born with multiple congenital
31 orn error of metabolism known as Smith-Lemli-Opitz syndrome (SLOS) caused by defective cholesterol bi
32                                  Smith-Lemli-Opitz syndrome (SLOS) is a common autosomal-recessive di
33                                  Smith-Lemli-Opitz syndrome (SLOS) is a genetic syndrome caused by mu
34                                  Smith-Lemli-Opitz syndrome (SLOS) is a malformation disorder caused
35                                  Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome with ne
36                                  Smith-Lemli-Opitz syndrome (SLOS) is a rare disorder of cholesterol
37                                  Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive dis
38                              The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multipl
39                                  Smith-Lemli-Opitz syndrome (SLOS) is an inborn error of cholesterol
40                                  Smith-Lemli-Opitz syndrome (SLOS) is caused by defects in 7-dehydroc
41 n human fibroblasts derived from Smith-Lemli-Opitz syndrome (SLOS) patients and linked to specific tr
42                                  Smith-Lemli-Opitz syndrome (SLOS), desmosterolosis and lathosterolos
43 ) in the developmental disorder, Smith-Lemli-Opitz syndrome (SLOS), results in a deficiency in choles
44 rol reductase is associated with Smith-Lemli-Opitz syndrome (SLOS), the potent and selective inhibito
45 lesterol reductase (DHCR7) cause Smith-Lemli-Opitz Syndrome (SLOS), which is characterized by a toxic
46 ctase gene (Dhcr7-/-) results in Smith-Lemli-Opitz syndrome (SLOS).
47 s clinically diagnosed as having Smith-Lemli-Opitz syndrome (SLOS).
48                              The Smith-Lemli-Opitz syndrome (SLOS; also known as "RSH syndrome" [MIM
49                              The Smith-Lemli-Opitz syndrome (SLOS; also known as the RSH syndrome) is
50 ol present in elevated levels in Smith-Lemli-Opitz syndrome, were both significantly more strongly do
51 olesterol biosynthetic disorder, Smith-Lemli-Opitz syndrome, whose underlying defect was identified i
52 ant roles in the pathogenesis of Smith-Lemli-Opitz syndrome, X-linked dominant chondrodysplasia punct