(Q34587480)

3 August 2017

1 reference

title

Teratogenesis of holoprosencephaly (English)

1 reference

3 August 2017

1 reference

M Michael Cohen

1

1 reference

PubMed ID

11932986

3 August 2017

Kohei Shiota

series ordinal

2

1 reference

3 August 2017

1 April 2002

1 reference

American Journal of Medical Genetics Part A

3 August 2017

1 reference

3 August 2017

109

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3 August 2017

1

1 reference

3 August 2017

1-15

1 reference

Ethanol impairs migration of the prechordal plate in the zebrafish embryo.

3 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Effects of alkaloids of Veratrum californicum on chick embryos.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Cyclopia and congenital cytomegalovirus infection.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Hypoglossia, situs inversus and absence of the pituitary in a neonate: teratogenic effect of maternal hyperthermia?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Skinny hedgehog, an acyltransferase required for palmitoylation and activity of the hedgehog signal

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Retinoic acid embryopathy: case report and review of literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Nevoid basal cell carcinoma syndrome: molecular biology and new hypotheses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Teratogen-mediated inhibition of target tissue response to Shh signaling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Midline cerebral dysgenesis, dysfunction of the hypothalamic-pituitary axis, and fetal alcohol effects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Cyclopamine-induced holoprosencephaly and associated craniofacial malformations in the golden hamster: anatomic and molecular events

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Holoprosencephaly: epidemiologic and clinical characteristics of a California population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Transmembrane molecular pump activity of Niemann-Pick C1 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Arhinencephaly in an infant born to a diabetic mother.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

FAMILIAL ALOBAR HOLOPROSENCEPHALY (ARHINENCEPHALY) WITH MEDIAN CLEFT LIP AND PALATE. REPORT OF PATIENT WITH 46 CHROMOSOMES.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Cholesterol metabolism and embryogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Zebrafish organizer development and germ-layer formation require nodal-related signals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Absence of ventral cell populations in the developing brain in a rat model of the Smith-Lemli-Opitz syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Ectopic bone morphogenetic proteins 5 and 4 in the chicken forebrain lead to cyclopia and holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Hyperglycemia-induced teratogenesis is mediated by a functional deficiency of arachidonic acid

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Maternal ethanol ingestion effects on fetal rat brain vitamin A as a model for fetal alcohol syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Effect of retinoic acid and ethanol on retinoic acid receptor beta and glial fibrillary acidic protein mRNA expression in human astrocytoma cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Vax1, a novel homeobox-containing gene, directs development of the basal forebrain and visual system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

The cyclops mutation blocks specification of the floor plate of the zebrafish central nervous system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Ethanol-induced alterations in the expression of neurotrophic factors in the developing rat central nervous system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Dissecting the role of the golgi complex and lipid rafts in biosynthetic transport of cholesterol to the cell surface.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Sonic hedgehog participates in craniofacial morphogenesis and is down-regulated by teratogenic doses of retinoic acid

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Microcephaly, holoprosencephaly, hypokinesia--second report of a new syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Ethanol-Induced Apoptotic Neurodegeneration and Fetal Alcohol Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Holoprosencephaly and agenesis of the corpus callosum: frequency of associated malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Cyclopia produced in a very early retinoic acid experiment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Cyclopamine and related steroidal alkaloid teratogens: their occurrence, structural relationship, and biologic effects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Non-enzymatic glycosylation and the chronic complications of diabetes: an overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Preconception care of diabetes. Glycemic control prevents congenital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Retinoic acid embryopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

THE BLINDNESS OF THE CAVE FAUNA AND THE ARTIFICIAL PRODUCTION OF BLIND FISH EMBRYOS BY HETEROGENEOUS HYBRIDIZATION AND BY LOW TEMPERATURES

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Epidemiological analysis of outcomes of pregnancy in diabetic mothers: identification of the most characteristic and most frequent congenital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Epidemiological analysis of outcomes of pregnancy in gestational diabetic mothers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Acetaldehyde in vitro exposure and apoptosis: a possible mechanism of teratogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Molecular cloning and expression of the human delta7-sterol reductase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Prenatal diagnosis of a new syndrome: holoprosencephaly with hypokinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Genetic approaches to understanding brain development: holoprosencephaly as a model

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Identification of HE1 as the second gene of Niemann-Pick C disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Smad2 role in mesoderm formation, left-right patterning and craniofacial development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Environmental agents that have the potential to trigger massive apoptotic neurodegeneration in the developing brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Identification of a palmitic acid-modified form of human Sonic hedgehog

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Alcohol embryo- and fetopathy. Neuropathology of 3 children and 3 fetuses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Cholesterol modification of hedgehog signaling proteins in animal development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Descriptive epidemiology of holoprosencephaly and arhinencephaly in metropolitan Atlanta, 1968-1992.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Zebrafish nodal-related genes are implicated in axial patterning and establishing left-right asymmetry

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

cyclops encodes a nodal-related factor involved in midline signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Multifactorial basis of the syndrome of diabetic embryopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

EXPERIMENTAL PRODUCTION OF PERFECT CYCLOPIA BY REMOVAL OF THE TELENCEPHALON AND REVERSAL OF BILATERALIZATION IN SOMITE-STAGE CHICKS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Holoprosencephaly and maternal low‐calorie weight‐reducing diet

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Holoprosencephaly as a possible embryonic alcohol effect

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Diabetic embryopathy: possible pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Evidence for multifactorial origin of diabetes-induced embryopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Effects of altered maternal metabolism during gastrulation and neurulation stages of embryogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Induction of the zebrafish ventral brain and floorplate requires cyclops/nodal signalling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Congenital malformations in offspring of women with hyperglycemia first detected during pregnancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Holoprosencephaly/arbinencephaly: A case with no biochemical adnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Holoprosencephaly in a fetal macaque (Macaca nemestrina) following weekly exposure to ethanol

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

How cells handle cholesterol.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

The type II activin receptors are essential for egg cylinder growth, gastrulation, and rostral head development in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

one-eyed pinhead is required for development of the ventral midline of the zebrafish (Danio rerio) neural tube.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Bilateral brachial amelia with facial clefts and holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Flik, a chick follistatin-related gene, functions in gastrular dorsalisation/neural induction and in subsequent maintenance of midline Sonic hedgehog signalling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Molecular mechanisms of holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Defective forebrain development in mice lacking gp330/megalin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10258

21 January 2018

Identifiers

DOI

10.1002/AJMG.10258

1 reference

release_5vo7zi2rj5hvfeektztklouvrq

3 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/5vo7zi2rj5hvfeektztklouvrq

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

11932986

1 reference

PubMed ID

11932986