(Q48400659)

11 February 2018

review article

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title

Holoprosencephaly: a paradigm for the complex genetics of brain development. (English)

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11 February 2018

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E Roessler

1

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11 February 2018

M Muenke

series ordinal

2

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11 February 2018

publication date

1 August 1998

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11 February 2018

Journal of Inherited Metabolic Disease

published in

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11 February 2018

volume

21

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11 February 2018

page(s)

481-497

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11 February 2018

issue

5

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11 February 2018

https://scigraph.springernature.com/pub.10.1023/a:1005406719292

exact match

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cites work

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A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

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The human gene ZFP161 on 18p11.21-pter encodes a putative c-myc repressor and is homologous to murine Zfp161 (Chr 17) and Zfp161-rs1 (X Chr)

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Induction of motor neurons by Sonic hedgehog is independent of floor plate differentiation

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12 December 2020

Perspectives on holoprosencephaly: Part II. Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach, and experimental studies

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12 December 2020

Teratogenic Effect of an Inhibitor of Cholesterol Synthesis (AY 9944) in Rats: Correlation with Maternal Cholesterolemia

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Proteolytic processing yields two secreted forms of sonic hedgehog

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Teratogenicity of low doses of all-trans retinoic acid in presomite mouse embryos.

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Identification and expression of six family genes in mouse retina

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

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Sequence of developmental alterations following acute ethanol exposure in mice: craniofacial features of the fetal alcohol syndrome

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12 December 2020

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

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12 December 2020

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12 December 2020

Floor plate and motor neuron induction by different concentrations of the amino-terminal cleavage product of sonic hedgehog autoproteolysis

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The GLI gene is a member of the Kruppel family of zinc finger proteins.

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Identification and characterization of Zic4, a new member of the mouse Zic gene family.

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Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.

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12 December 2020

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

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12 December 2020

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

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Mutation in GLI3 in postaxial polydactyly type A

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Six3, a murine homologue of the sine oculis gene, demarcates the most anterior border of the developing neural plate and is expressed during eye development.

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Mutations affecting segment number and polarity in Drosophila

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A novel homeobox protein which recognizes a TGT core and functionally interferes with a retinoid-responsive motif

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Teratogenic action and embryo lethality of AY 9944R: Prevention by a hypercholesterolemia-provoking diet

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The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog

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12 December 2020

Embryonic origin of holoprosencephaly: interrelationship of the developing brain and face.

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12 December 2020

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

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Dickkopf-1 is a member of a new family of secreted proteins and functions in head induction

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12 December 2020

Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.

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12 December 2020

Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly

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Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

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12 December 2020

The role of sonic hedgehog in vertebrate development

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Biochemical evidence that patched is the Hedgehog receptor

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

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

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Pathoarchitectonic studies of cerebral malformations. III. Arrhinencephalies (holotelencephalies).

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Induction of midbrain dopaminergic neurons by Sonic hedgehog

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Holoprosencephaly and maternal low‐calorie weight‐reducing diet

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12 December 2020

Holoprosencephaly: epidemiologic and clinical characteristics of a California population

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12 December 2020

Hedgehog and Bmp genes are coexpressed at many diverse sites of cell-cell interaction in the mouse embryo

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12 December 2020

Two critical periods of Sonic Hedgehog signaling required for the specification of motor neuron identity

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12 December 2020

Current views on eye development

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12 December 2020

Floor plate and motor neuron induction by vhh-1, a vertebrate homolog of hedgehog expressed by the notochord

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12 December 2020

Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly

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12 December 2020

Protein kinase A is a common negative regulator of Hedgehog signaling in the vertebrate embryo.

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12 December 2020

Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology

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12 December 2020

Serpentine proteins slither into the wingless and hedgehog fields

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12 December 2020

Phosphorylation of the fused protein kinase in response to signaling from hedgehog

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12 December 2020

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

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12 December 2020

smoothened encodes a receptor-like serpentine protein required for hedgehog signalling

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12 December 2020

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

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12 December 2020

Defective forebrain development in mice lacking gp330/megalin

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12 December 2020

The segment polarity gene hedgehog is required for progression of the morphogenetic furrow in the developing Drosophila eye.

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12 December 2020

Hedgehog elicits signal transduction by means of a large complex containing the kinesin-related protein costal2.

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12 December 2020

Cholesterol modification of hedgehog signaling proteins in animal development

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12 December 2020

Holoprosencephaly as a possible embryonic alcohol effect

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12 December 2020

Holoprosencephaly in infants of diabetic mothers

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12 December 2020

Positional cloning identifies zebrafish one-eyed pinhead as a permissive EGF-related ligand required during gastrulation.

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12 December 2020

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

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12 December 2020

Homeobox genes and connective tissue patterning

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12 December 2020

Clinical, cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephaly

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12 December 2020

Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly

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12 December 2020

Hedgehog, transmitted along retinal axons, triggers neurogenesis in the developing visual centers of the Drosophila brain.

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12 December 2020

RSH/SLO ("Smith-Lemli-Opitz") syndrome: historical, genetic, and developmental considerations

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12 December 2020

Sending and receiving the hedgehog signal: control by the Drosophila Gli protein Cubitus interruptus.

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12 December 2020

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

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12 December 2020

The human lanosterol synthase gene maps to chromosome 21q22.3

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12 December 2020

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

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12 December 2020

Holoprosencephaly: birth data, benetic and demographic analyses of 30 families

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12 December 2020

Secretion of the amino-terminal fragment of the hedgehog protein is necessary and sufficient for hedgehog signalling in Drosophila.

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12 December 2020

Secretion and localized transcription suggest a role in positional signaling for products of the segmentation gene hedgehog

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12 December 2020

Autoproteolysis in hedgehog protein biogenesis

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12 December 2020

Deletion map of the coloboma (Cm) locus on mouse chromosome 2

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12 December 2020

Midline signalling is required for Pax gene regulation and patterning of the eyes.

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12 December 2020

Proteolysis that is inhibited by hedgehog targets Cubitus interruptus protein to the nucleus and converts it to a repressor

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12 December 2020

Physical mapping of the holoprosencephaly critical region in 18p11.3

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12 December 2020

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

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12 December 2020

The Drosophila smoothened gene encodes a seven-pass membrane protein, a putative receptor for the hedgehog signal.

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12 December 2020

Cholesterol, hedgehog and embryogenesis.

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12 December 2020

Interference with gastrulation during the third week of pregnancy as a cause of some facial abnormalities and CNS defects

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12 December 2020

The mouse zic gene family. Homologues of the Drosophila pair-rule gene odd-paired.

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12 December 2020

The world according to hedgehog

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12 December 2020

Catching a Gli-mpse of Hedgehog

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12 December 2020

Strike three for GLI3.

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12 December 2020

Crystal structure of a Hedgehog autoprocessing domain: homology between Hedgehog and self-splicing proteins

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12 December 2020

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

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12 December 2020

Effects of teratogenic agents in range plants

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12 December 2020

Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients

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12 December 2020

Gli1 is a target of Sonic hedgehog that induces ventral neural tube development

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12 December 2020

Molecular cloning and expression of the human delta7-sterol reductase

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12 December 2020

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12 December 2020

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

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12 December 2020

Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases

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12 December 2020

A potential catalytic site revealed by the 1.7-A crystal structure of the amino-terminal signalling domain of Sonic hedgehog

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12 December 2020

Hedgehog and its patched-smoothened receptor complex: a novel signalling mechanism at the cell surface

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12 December 2020

Absence of linkage of apparently single gene mediated ADHD with the human syntenic region of the mouse mutant Coloboma.

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12 December 2020

A congenital cyclopiantype malformation in lambs

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12 December 2020

Antagonizing cAMP-dependent protein kinase A in the dorsal CNS activates a conserved Sonic hedgehog signaling pathway.

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

1 reference

12 December 2020

Sonic hedgehog induces the differentiation of ventral forebrain neurons: A common signal for ventral patterning within the neural tube

1 reference

12 December 2020

Costal2, a novel kinesin-related protein in the Hedgehog signaling pathway

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21.

1 reference

12 December 2020

A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities

1 reference

12 December 2020

Hedgehog patterning activity: role of a lipophilic modification mediated by the carboxy-terminal autoprocessing domain

1 reference

12 December 2020

Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome

1 reference

12 December 2020

Control of cell pattern in the neural tube by the zinc finger transcription factor and oncogene Gli-1

1 reference

12 December 2020

Interpretation of some median anomalies as illustrated by cyclopia and symmelia

1 reference

12 December 2020

Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly.

1 reference

12 December 2020

Long-range sclerotome induction by sonic hedgehog: direct role of the amino-terminal cleavage product and modulation by the cyclic AMP signaling pathway

1 reference

12 December 2020

Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations.

1 reference

12 December 2020

Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity

1 reference

12 December 2020

Alobar Holoprosencephaly (Arhinencephaly) with Median Cleft Lip and Palate: Clinical, Electroencephalographic and Nosologic Considerations (Part 1 of 2)

1 reference

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1005406719292

7 January 2021

inferred from DOI database lookup

Human gene mapping 11. London Conference (1991). Eleventh International Workshop on Human Gene Mapping. London, UK, August 18-22, 1991

1 reference

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1005406719292

7 January 2021

inferred from DOI database lookup

The human lanosterol synthase gene maps to chromosome 21q22.3

1 reference

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1005406719292

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1023/A:1005406719292

1 reference

11 February 2018

Dimensions Publication ID

0 references

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11 February 2018