ライフサイエンスコーパス: Opitz syndrome

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1 XL1 mutations occur in patients with Bohring-Opitz syndrome.

2 metabolic disorders such as the Smith-Lemli-Opitz syndrome.

3 delay found in individuals with Smith-Lemli-Opitz syndrome.

4 ve gene for the human developmental disorder Opitz syndrome.

5 cholesterol, such as those with Smith-Lemli-Opitz syndrome.

6 by another group and found to be mutated in Opitz syndrome.

7 astating developmental disorder, Smith-Lemli-Opitz syndrome.

8 re frequent in myeloid leukemias and Bohring-Opitz syndrome.

9 lesterol (7-DHC), accumulates in Smith-Lemli-Opitz syndrome, a human genetic disease that phenocopies

10 ulation of alpha4 cleavage may contribute to Opitz syndrome and Alzheimer disease.

11 YSPRY domains is the site of mutants causing Opitz syndrome and familial Mediterranean fever.

12 ay a fundamental role in the pathogenesis of Opitz syndrome and in morphogenetic events at the midlin

13 as levels of cleaved alpha4 are decreased in Opitz syndrome and increased in Alzheimer disease, disor

14 of the cleft palate component of Smith-Lemli-Opitz syndrome and other human malformation syndromes in

15 sis dwf5 phenotype and the human Smith-Lemli-Opitz syndrome are caused by loss-of-function mutations

16 m 7-DHC that also accumulates in Smith-Lemli-Opitz syndrome, blocked Hedgehog signaling by inhibiting

17 De novo ASXL1 mutations cause Bohring-Opitz syndrome characterized by multiple congenital malf

18 malformation syndromes including Smith-Lemli-Opitz syndrome, desmosterolosis, CHILD syndrome, CDPX2 a

19 novel MAP, GLFND, that shows homology to the Opitz syndrome gene product [6], localizes to a subpopul

20 cholesterol, the RSH (so-called Smith-Lemli-Opitz) syndrome has become a paradigmatic metabolic malf

21 l in the plasma of children with Smith-Lemli-Opitz syndrome imply that intermediates in cholesterol s

22 The Smith-Lemli-Opitz syndrome is a common inherited birth disorder caus

23 alformation syndromes, including Smith-Lemli-Opitz syndrome, lathosterolosis, desmosterolosis, X-link

24 HCR7 expression seen with common Smith-Lemli-Opitz syndrome mutations.

25 Opitz syndrome (OS) is a human genetic disease character

26 d by nocodazole or by siRNA knockdown of the Opitz syndrome protein Mid1 that binds alpha-4 to microt

27 The RSH/Smith--Lemli--Opitz syndrome (RSH/SLOS) is a human autosomal recessive

28 Patients with Smith-Lemli-Opitz syndrome (SLOS) are born with multiple congenital

29 orn error of metabolism known as Smith-Lemli-Opitz syndrome (SLOS) caused by defective cholesterol bi

30 Smith-Lemli-Opitz syndrome (SLOS) is a common autosomal-recessive di

31 Smith-Lemli-Opitz syndrome (SLOS) is a genetic syndrome caused by mu

32 Smith-Lemli-Opitz syndrome (SLOS) is a malformation disorder caused

33 Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome with ne

34 Smith-Lemli-Opitz syndrome (SLOS) is a rare disorder of cholesterol

35 The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multipl

36 Smith-Lemli-Opitz syndrome (SLOS) is an inborn error of cholesterol

37 Smith-Lemli-Opitz syndrome (SLOS) is caused by defects in 7-dehydroc

38 n human fibroblasts derived from Smith-Lemli-Opitz syndrome (SLOS) patients and linked to specific tr

39 Smith-Lemli-Opitz syndrome (SLOS), desmosterolosis and lathosterolos

40 rol reductase is associated with Smith-Lemli-Opitz syndrome (SLOS), the potent and selective inhibito

41 ctase gene (Dhcr7-/-) results in Smith-Lemli-Opitz syndrome (SLOS).

42 s clinically diagnosed as having Smith-Lemli-Opitz syndrome (SLOS).

43 The Smith-Lemli-Opitz syndrome (SLOS; also known as "RSH syndrome" [MIM

44 The Smith-Lemli-Opitz syndrome (SLOS; also known as the RSH syndrome) is

45 ol present in elevated levels in Smith-Lemli-Opitz syndrome, were both significantly more strongly do

46 olesterol biosynthetic disorder, Smith-Lemli-Opitz syndrome, whose underlying defect was identified i

47 ant roles in the pathogenesis of Smith-Lemli-Opitz syndrome, X-linked dominant chondrodysplasia punct

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