(Q44647467)

5 December 2017

title

MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome (English)

1 reference

Cardiology and cardiovascular medicine

5 December 2017

main subject

1 reference

Crossref

https://api.crossref.org/works/10.1007/S00234-003-1110-1

30 March 2024

author name string

P. A. Caruso

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14605787

30 March 2024

T. Y. Poussaint

2

1 reference

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30 March 2024

A. A. Tzika

3

1 reference

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30 March 2024

D. Zurakowski

4

1 reference

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30 March 2024

L. G. Astrakas

5

1 reference

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30 March 2024

E. R. Elias

6

1 reference

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30 March 2024

C. Bay

7

1 reference

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30 March 2024

M. B. Irons

8

1 reference

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30 March 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14605787

30 March 2024

publication date

5 November 2003

1 reference

full work available at URL

5 December 2017

http://link.springer.com/content/pdf/10.1007/s00234-003-1110-1.pdf

file format

Portable Document Format

1 reference

Crossref

https://api.crossref.org/works/10.1007/S00234-003-1110-1

http://link.springer.com/article/10.1007/s00234-003-1110-1/fulltext.html

30 March 2024

1 reference

https://api.crossref.org/works/10.1007/S00234-003-1110-1

http://link.springer.com/content/pdf/10.1007/s00234-003-1110-1

30 March 2024

1 reference

Crossref

https://api.crossref.org/works/10.1007/S00234-003-1110-1

30 March 2024

1 reference

5 December 2017

volume

46

1 reference

5 December 2017

issue

1

1 reference

5 December 2017

page(s)

3-14

1 reference

Reproducibility of 1H-MRS in vivo

5 December 2017

cites work

1 reference

12 December 2020

Molecular mechanisms of holoprosencephaly

1 reference

12 December 2020

Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient

1 reference

12 December 2020

Holoprosencephaly: a paradigm for the complex genetics of brain development

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12 December 2020

Holoprosencephaly and midline facial anomalies: redefining classification and management

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12 December 2020

Quantitative proton magnetic resonance spectroscopy of the basal ganglia in patients with affective disorders

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12 December 2020

Magnetic resonance spectroscopy and magnetic resonance imaging findings in Krabbe's disease

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12 December 2020

Localized proton MR spectroscopy of the brain in children

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12 December 2020

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

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12 December 2020

The Smith-Lemli-Opitz syndrome

1 reference

12 December 2020

Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984-1989.

1 reference

12 December 2020

RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis

1 reference

12 December 2020

TERATOGENIC ACTION OF TRIPARANOL IN ANIMALS

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12 December 2020

[Teratogenic action in the rat of an inhibitor of cholesterol synthesis, AY 9944]

1 reference

12 December 2020

MRI in Smith-Lemli-Opitz syndrome type I

1 reference

12 December 2020

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

1 reference

12 December 2020

Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes

1 reference

12 December 2020

Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome

1 reference

12 December 2020

Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)

1 reference

12 December 2020

Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome

1 reference

12 December 2020

Patterning activities of vertebrate hedgehog proteins in the developing eye and brain.

1 reference

12 December 2020

Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?

1 reference

12 December 2020

Reproducing abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome by inhibiting the conversion of 7-dehydrocholesterol to cholesterol in rats

1 reference

12 December 2020

Mutations affecting segment number and polarity in Drosophila

1 reference

12 December 2020

In vivo assessment of N-acetylaspartate in brain in spongy degeneration (Canavan's disease) by proton spectroscopy

1 reference

12 December 2020

Holoprosencephaly: molecular study of a California population

1 reference

12 December 2020

Limb, genital, CNS, and facial malformations result from gene/environment-induced cholesterol deficiency: further evidence for a link to sonic hedgehog

1 reference

12 December 2020

1H NMR visible lipids in the life and death of cells

1 reference

12 December 2020

Smith-Lemli-Opitz syndrome type II: report of a case with additional radiographic findings.

1 reference

12 December 2020

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

1 reference

12 December 2020

Magnetic resonance spectroscopy in Niemann-Pick disease type C: correlation with diagnosis and clinical response to cholestyramine and lovastatin

1 reference

12 December 2020

Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog

1 reference

12 December 2020

Ectopic expression of Sonic hedgehog alters dorsal-ventral patterning of somites.

1 reference

12 December 2020

Holoprosencephaly: epidemiologic and clinical characteristics of a California population

1 reference

12 December 2020

Regional variation in brain lactate in Leigh syndrome by localized 1H magnetic resonance spectroscopy

1 reference

12 December 2020

Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype

1 reference

12 December 2020

THE FACE PREDICTS THE BRAIN: DIAGNOSTIC SIGNIFICANCE OF MEDIAN FACIAL ANOMALIES FOR HOLOPROSENCEPHALY (ARHINENCEPHALY)

1 reference

12 December 2020

The product of hedgehog autoproteolytic cleavage active in local and long-range signalling

1 reference

12 December 2020

Cholesterol modification of hedgehog signaling proteins in animal development

1 reference

12 December 2020

Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity

1 reference

12 December 2020

Quantitative proton MR spectroscopic imaging of the human brain

1 reference

12 December 2020

Reproducibility of metabolite peak areas in 1H MRS of brain

1 reference

12 December 2020

Reproducibility of 3D proton spectroscopy in the human brain

1 reference

12 December 2020

Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism

1 reference

12 December 2020

Magnetic resonance spectroscopy of the pediatric brain

1 reference

12 December 2020

Requirement of 19K form of Sonic hedgehog for induction of distinct ventral cell types in CNS explants.

1 reference

12 December 2020

Serial whole-brain magnetization transfer imaging in patients with relapsing-remitting multiple sclerosis at baseline and during treatment with interferon beta-1b.

1 reference

12 December 2020

Hypodipsia-hypernatremia syndrome associated with holoprosencephaly in a child: a case report.

1 reference

12 December 2020

Biochemical variants of Smith-Lemli-Opitz syndrome

1 reference

12 December 2020

Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial

1 reference

12 December 2020

Reproducibility of in vivo metabolite quantification with proton magnetic resonance spectroscopic imaging

1 reference

12 December 2020

Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities

1 reference

12 December 2020

Spatial localization in NMR spectroscopy in vivo

1 reference

12 December 2020

Physical mapping of the holoprosencephaly critical region on chromosome 7q36.

1 reference

12 December 2020

Products, genetic linkage and limb patterning activity of a murine hedgehog gene

1 reference

12 December 2020

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

1 reference

12 December 2020

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome

1 reference

12 December 2020

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome

1 reference

12 December 2020

Multivoxel proton MR spectroscopy and hemodynamic MR imaging of childhood brain tumors: preliminary observations

1 reference

12 December 2020

Identifiers

1 reference

5 December 2017

1 reference