Current perspectives on the genetic causes of neural tube defects (Q36581497)

15 August 2017

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title

Current perspectives on the genetic causes of neural tube defects (English)

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15 August 2017

Patrizia De Marco

1

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15 August 2017

Elisa Merello

series ordinal

2

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15 August 2017

Samantha Mascelli

series ordinal

3

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15 August 2017

Valeria Capra

series ordinal

4

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15 August 2017

29 August 2006

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15 August 2017

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15 August 2017

7

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15 August 2017

4

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15 August 2017

201-221

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https://scigraph.springernature.com/pub.10.1007/s10048-006-0052-2

15 August 2017

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cites work

Non-multifactorial neural tube defects

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https://api.crossref.org/works/10.1007%2FS10048-006-0052-2

Embryology of neural tube development

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10048-006-0052-2

Neural tube closure and neural tube defects: studies in animal models reveal known knowns and known unknowns

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-006-0052-2

Drinking water contaminants and adverse pregnancy outcomes: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-006-0052-2

5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-006-0052-2

Reduced vitamin B12 binding by transcobalamin II increases the risk of neural tube defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-006-0052-2

Progressive determination during formation of the anteroposterior axis in Xenopus laevis.

21 January 2018

1 reference

12 December 2020

Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects

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12 December 2020

Increased XRALDH2 activity has a posteriorizing effect on the central nervous system of Xenopus embryos

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12 December 2020

Altered neural cell fates and medulloblastoma in mouse patched mutants

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12 December 2020

Expression of Pax-3 in the lateral neural plate is dependent on a Wnt-mediated signal from posterior nonaxial mesoderm

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12 December 2020

Disruption of BMP signals in embryonic Xenopus ectoderm leads to direct neural induction

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12 December 2020

Wnt and FGF pathways cooperatively pattern anteroposterior neural ectoderm in Xenopus.

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12 December 2020

Precocious mammary gland development in P-cadherin-deficient mice.

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12 December 2020

Lack of association between mutations in the folate receptor-alpha gene and spina bifida

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12 December 2020

Evidence for multi-site closure of the neural tube in humans

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12 December 2020

An early requirement for FGF signalling in the acquisition of neural cell fate in the chick embryo

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12 December 2020

Essential roles for the Abl and Arg tyrosine kinases in neurulation

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12 December 2020

Molecular mechanisms of holoprosencephaly

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12 December 2020

Regulation of repulsion versus adhesion by different splice forms of an Eph receptor

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12 December 2020

Multiple points of interaction between retinoic acid and FGF signaling during embryonic axis formation.

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12 December 2020

Genetic variants inZIC1,ZIC2, andZIC3 are not major risk factors for neural tube defects in humans

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12 December 2020

Folic acid prevents exencephaly in Cited2 deficient mice

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12 December 2020

Integration of IGF, FGF, and anti-BMP signals via Smad1 phosphorylation in neural induction

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12 December 2020

Vinculin knockout results in heart and brain defects during embryonic development.

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12 December 2020

Caudalization of neural fate by tissue recombination and bFGF

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12 December 2020

Identification of Vangl2 and Scrb1 as planar polarity genes in mammals

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12 December 2020

Evaluation of infant methylenetetrahydrofolate reductase genotype, maternal vitamin use, and risk of high versus low level spina bifida defects

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12 December 2020

Mechanisms of neurulation: traditional viewpoint and recent advances

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12 December 2020

A homolog of Drosophila grainy head is essential for epidermal integrity in mice

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12 December 2020

Point mutations in human GLI3 cause Greig syndrome.

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12 December 2020

The organizer factors Chordin and Noggin are required for mouse forebrain development

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12 December 2020

Xwnt11 is a target of Xenopus Brachyury: regulation of gastrulation movements via Dishevelled, but not through the canonical Wnt pathway.

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12 December 2020

Homeobox gene Nkx2.2 and specification of neuronal identity by graded Sonic hedgehog signalling

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12 December 2020

Neural induction requires BMP inhibition only as a late step, and involves signals other than FGF and Wnt antagonists.

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12 December 2020

Risk of neural tube defect-affected pregnancies among obese women

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12 December 2020

The Mouse Cer1 (Cerberus related or homologue) Gene Is Not Required for Anterior Pattern Formation

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12 December 2020

The retinoic acid-metabolizing enzyme, CYP26A1, is essential for normal hindbrain patterning, vertebral identity, and development of posterior structures

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12 December 2020

Specific isoforms of protein kinase C are essential for prevention of folate-resistant neural tube defects by inositol

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12 December 2020

Regional differences in morphogenesis of the neuroepithelium suggest multiple mechanisms of spinal neurulation in the mouse

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12 December 2020

MARCKS deficiency in mice leads to abnormal brain development and perinatal death

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12 December 2020

Dishevelled controls cell polarity during Xenopus gastrulation

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12 December 2020

Mechanisms of neurulation

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12 December 2020

Reduced folate carrier polymorphism (80A-->G) and neural tube defects

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12 December 2020

The genetic basis of mammalian neurulation.

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12 December 2020

PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida

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12 December 2020

Cerberus is a head-inducing secreted factor expressed in the anterior endoderm of Spemann's organizer.

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12 December 2020

Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2

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12 December 2020

Zic2 regulates the kinetics of neurulation

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12 December 2020

Diminished Sonic hedgehog signaling and lack of floor plate differentiation in Gli2 mutant mice

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12 December 2020

Neural induction, a two-way process

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12 December 2020

A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?

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12 December 2020

Evaluation of BMP4 and its specific inhibitor NOG as candidates in human neural tube defects (NTDs)

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12 December 2020

Foxa2 is required for the differentiation of pancreatic alpha-cells

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12 December 2020

Retinoic acid modifies mesodermal patterning in early Xenopus embryos

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12 December 2020

Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse

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12 December 2020

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

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12 December 2020

A sonic hedgehog-independent, retinoid-activated pathway of neurogenesis in the ventral spinal cord

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12 December 2020

A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity

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12 December 2020

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12 December 2020

Diarrhea: a new risk factor for neural tube defects?

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12 December 2020

Protein kinase A deficiency causes axially localized neural tube defects in mice

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12 December 2020

Rab23 is an essential negative regulator of the mouse Sonic hedgehog signalling pathway

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12 December 2020

Graded sonic hedgehog signaling and the specification of cell fate in the ventral neural tube

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12 December 2020

Organising cells into tissues: new roles for cell adhesion molecules in planar cell polarity

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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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12 December 2020

Follistatin, an antagonist of activin, is expressed in the Spemann organizer and displays direct neuralizing activity.

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12 December 2020

Twisted gastrulation can function as a BMP antagonist.

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12 December 2020

Associations between polymorphisms within the thymidylate synthase gene and spina bifida

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12 December 2020

Dysgenesis of cephalic neural crest derivatives in Pax7-/- mutant mice

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12 December 2020

The specification of dorsal cell fates in the vertebrate central nervous system

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12 December 2020

Pax6 controls progenitor cell identity and neuronal fate in response to graded Shh signaling

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12 December 2020

Greig cephalopolysyndactyly syndrome: a possible mouse homologue (Xt-extra toes)

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12 December 2020

A requirement for bone morphogenetic protein-7 during development of the mammalian kidney and eye

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12 December 2020

Mutation in GLI3 in postaxial polydactyly type A

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12 December 2020

Expression of retinoic acid 4-hydroxylase (CYP26) during mouse and Xenopus laevis embryogenesis.

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12 December 2020

C677T and A1298C MTHFR polymorphisms in the etiology of neural tube defects in Spanish population

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12 December 2020

Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population

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12 December 2020

Reduced folate carrier polymorphisms and neural tube defect risk.

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12 December 2020

Studies in neural tube defects. I. Epidemiologic and etiologic aspects

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12 December 2020

Neural induction in the absence of mesoderm: beta-catenin-dependent expression of secreted BMP antagonists at the blastula stage in Xenopus.

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12 December 2020

Mice lacking the folic acid-binding protein Folbp1 are defective in early embryonic development

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12 December 2020

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

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12 December 2020

Regionalized metabolic activity establishes boundaries of retinoic acid signalling

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12 December 2020

A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene

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12 December 2020

Hereditary factors in the etiology of neural tube defects. Results of a survey

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12 December 2020

Inositol prevents folate-resistant neural tube defects in the mouse.

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12 December 2020

Molecular mechanisms of neural crest formation.

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12 December 2020

Linkage strategies for genetically complex traits. II. The power of affected relative pairs

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12 December 2020

The effects of N-cadherin misexpression on morphogenesis in Xenopus embryos

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12 December 2020

Dishevelled mediates ephrinB1 signalling in the eye field through the planar cell polarity pathway

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12 December 2020

Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population

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12 December 2020

Specification of the Anteroposterior Neural Axis through Synergistic Interaction of the Wnt Signaling Cascade withnogginandfollistatin

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12 December 2020

Xenopus Dishevelled signaling regulates both neural and mesodermal convergent extension: parallel forces elongating the body axis.

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12 December 2020

Convergent extension: the molecular control of polarized cell movement during embryonic development

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12 December 2020

Adverse reproductive outcomes among pregnancies of aunts and (spouses of) uncles in Irish families with neural tube defects

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12 December 2020

Neural tube closure in humans initiates at multiple sites: evidence from human embryos and implications for the pathogenesis of neural tube defects

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12 December 2020

Fibroblast growth factor is a direct neural inducer, which combined with noggin generates anterior-posterior neural pattern

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12 December 2020

The role of RhoA in tissue polarity and Frizzled signalling

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12 December 2020

A Polymorphism, R653Q, in the Trifunctional Enzyme Methylenetetrahydrofolate Dehydrogenase/Methenyltetrahydrofolate Cyclohydrolase/Formyltetrahydrofolate Synthetase Is a Maternal Genetic Risk Factor for Neural Tube Defects

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12 December 2020

BMP-binding modules in chordin: a model for signalling regulation in the extracellular space

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12 December 2020

The Wnt/beta-catenin pathway posteriorizes neural tissue in Xenopus by an indirect mechanism requiring FGF signalling

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12 December 2020

Retinoic acid perturbs the expression of Xhox.lab genes and alters mesodermal determination in Xenopus laevis

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12 December 2020

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12 December 2020

Distinct roles for Fgf, Wnt and retinoic acid in posteriorizing the neural ectoderm

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12 December 2020

Developmental biology. Growth factor lends a hand.

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12 December 2020

WNT/PCP signaling pathway and human cancer (review).

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12 December 2020

Direct neural induction and selective inhibition of mesoderm and epidermis inducers by Xnr3.

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12 December 2020

Crooked tail (Cd) models human folate-responsive neural tube defects

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12 December 2020

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly

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12 December 2020

Novel retinoic acid receptor ligands in Xenopus embryos

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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

Prevalence of spina bifida at birth--United States, 1983-1990: a comparison of two surveillance systems

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12 December 2020

Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida

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12 December 2020

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

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12 December 2020

Circletail, a new mouse mutant with severe neural tube defects: chromosomal localization and interaction with the loop-tail mutation

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12 December 2020

Neurulation in the normal human embryo.

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12 December 2020

Cell adhesion molecules in vertebrate neural development

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12 December 2020

Disruption of the MacMARCKS gene prevents cranial neural tube closure and results in anencephaly

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12 December 2020

Identification and developmental expression pattern of van gogh-like 1, a second zebrafish strabismus homologue

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12 December 2020

Open brain, a new mouse mutant with severe neural tube defects, shows altered gene expression patterns in the developing spinal cord

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12 December 2020

A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family

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12 December 2020

Axial elongation in the mouse and its retardation in homozygous looptail mice

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12 December 2020

The zebrafish organizer requires chordino

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12 December 2020

5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects.

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12 December 2020

Prenatal folic acid treatment suppresses acrania and meroanencephaly in mice mutant for the Cart1 homeobox gene

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12 December 2020

Convergence of Wnt, beta-catenin, and cadherin pathways

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12 December 2020

Mouse patched1 controls body size determination and limb patterning.

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12 December 2020

NCAM Is Essential for Axonal Growth and Fasciculation in the Hippocampus

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12 December 2020

Maternal Stress, Social Support, and Risk of Neural Tube Defects Among Mexican Americans

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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

Prickle and Strabismus form a functional complex to generate a correct axis during planar cell polarity signaling

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12 December 2020

BMP-7 is an inducer of nephrogenesis, and is also required for eye development and skeletal patterning

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12 December 2020

Identification of a retinoic acid-sensitive period during primary axis formation in Xenopus laevis

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12 December 2020

Folic acid and prevention of spina bifida and anencephaly. 10 years after the U.S. Public Health Service recommendation

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12 December 2020

Autoantibodies against folate receptors in women with a pregnancy complicated by a neural-tube defect

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12 December 2020

Embryonic retinoic acid synthesis is essential for early mouse post-implantation development

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12 December 2020

Shaping the vertebrate body plan by polarized embryonic cell movements

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12 December 2020

Maternal myo-inositol, glucose, and zinc status is associated with the risk of offspring with spina bifida

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12 December 2020

Promoter sequence, expression, and fine chromosomal mapping of the human gene (MLP) encoding the MARCKS-like protein: identification of neighboring and linked polymorphic loci for MLP and MACS and use in the evaluation of human neural tube defects

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12 December 2020

Adverse human reproductive outcomes and electromagnetic fields: a brief summary of the epidemiologic literature

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12 December 2020

The two sites of fusion of the neural folds and the two neuropores in the human embryo.

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12 December 2020

Noggin-mediated antagonism of BMP signaling is required for growth and patterning of the neural tube and somite

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12 December 2020

Maternal pesticide exposure from multiple sources and selected congenital anomalies

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12 December 2020

Prevention of the First Occurrence of Neural-Tube Defects by Periconceptional Vitamin Supplementation

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12 December 2020

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2

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12 December 2020

Mice deficient for BMP2 are nonviable and have defects in amnion/chorion and cardiac development

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12 December 2020

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

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12 December 2020

Neuronal patterning by BMPs: a requirement for GDF7 in the generation of a discrete class of commissural interneurons in the mouse spinal cord

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12 December 2020

Mena is required for neurulation and commissure formation

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12 December 2020

Retinoic acid causes an anteroposterior transformation in the developing central nervous system

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12 December 2020

Normal mouse strains differ in the site of initiation of closure of the cranial neural tube

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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

Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification

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12 December 2020

Strabismus, a novel gene that regulates tissue polarity and cell fate decisions in Drosophila

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12 December 2020

Sonic hedgehog and the molecular regulation of mouse neural tube closure.

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12 December 2020

Initiation of neural induction by FGF signalling before gastrulation.

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12 December 2020

The Wnt-activated Xiro1 gene encodes a repressor that is essential for neural development and downregulates Bmp4.

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12 December 2020

Frequency of the thermolabile variant C677T in the MTHFR gene and lack of association with neural tube defects in the State of Yucatan, Mexico

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12 December 2020

The adhesion signaling molecule p190 RhoGAP is required for morphogenetic processes in neural development

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12 December 2020

Xenopus chordin: a novel dorsalizing factor activated by organizer-specific homeobox genes

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12 December 2020

Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association.

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12 December 2020

Pax3 is required for cardiac neural crest migration in the mouse: evidence from the splotch (Sp2H) mutant

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12 December 2020

Planar cell polarity signalling couples cell division and morphogenesis during neurulation.

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12 December 2020

Multiple defects and perinatal death in mice deficient in follistatin

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12 December 2020

Maternal plasma folate and vitamin B12 are independent risk factors for neural tube defects

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12 December 2020

Maternal residential proximity to hazardous waste sites and risk for selected congenital malformations

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12 December 2020

SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects

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12 December 2020

A truncated FGF receptor blocks neural induction by endogenous Xenopus inducers.

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12 December 2020

Maternal flu, fever, and the risk of neural tube defects: a population-based case-control study

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12 December 2020

Smad5 knockout mice die at mid-gestation due to multiple embryonic and extraembryonic defects.

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12 December 2020

A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida

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12 December 2020

Susceptibility to spina bifida; an association study of five candidate genes

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12 December 2020

A posteriorising factor, retinoic acid, reveals that anteroposterior patterning controls the timing of neuronal differentiation in Xenopus neuroectoderm.

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12 December 2020

The teratogenic effect of carbamazepine: a meta-analysis of 1255 exposures

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12 December 2020

Neural tube defects among rural blacks in a Transkei district. A preliminary report and analysis

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12 December 2020

PTK7/CCK-4 is a novel regulator of planar cell polarity in vertebrates

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12 December 2020

Bone morphogenetic protein-4 is required for mesoderm formation and patterning in the mouse

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12 December 2020

Is mutated serine hydroxymethyltransferase (SHMT) involved in the etiology of neural tube defects?

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12 December 2020

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

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12 December 2020

Evaluation of the MTHFR C677T allele and the MTHFR gene locus in a German spina bifida population

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12 December 2020

Onset of neuronal differentiation is regulated by paraxial mesoderm and requires attenuation of FGF signalling.

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12 December 2020

Dishevelled 2 is essential for cardiac outflow tract development, somite segmentation and neural tube closure

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12 December 2020

Expression of the Axd (axial defects) mutation in the mouse is insensitive to retinoic acid at low dose

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12 December 2020

Is Sonic hedgehog (SHH) a candidate gene for spina bifida? A pilot study

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12 December 2020

Mouse embryos lacking Smad1 signals display defects in extra-embryonic tissues and germ cell formation

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12 December 2020

Common variant in betaine-homocysteine methyltransferase (BHMT) and risk for spina bifida

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12 December 2020

Shroom, a PDZ domain-containing actin-binding protein, is required for neural tube morphogenesis in mice

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12 December 2020

Drosophila Rho-associated kinase (Drok) links Frizzled-mediated planar cell polarity signaling to the actin cytoskeleton.

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12 December 2020

Current perspectives on the causes of neural tube defects resulting from diabetic pregnancy

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12 December 2020

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12 December 2020

Induction of embryonic primordia by implantation of organizers from a different species. 1923.

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12 December 2020

Evaluation of transcobalamin II polymorphisms as neural tube defect risk factors in an Irish population.

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12 December 2020

Neural tube closure requires Dishevelled-dependent convergent extension of the midline

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12 December 2020

Single nucleotide polymorphisms in the transcobalamin gene: relationship with transcobalamin concentrations and risk for neural tube defects

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12 December 2020

The balance between isoforms of the prickle LIM domain protein is critical for planar polarity in Drosophila imaginal discs

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12 December 2020

Flamingo, a seven-pass transmembrane cadherin, regulates planar cell polarity under the control of Frizzled

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12 December 2020

Analysis of the planar cell polarity gene Vangl2 and its co-expressed paralogue Vangl1 in neural tube defect patients.

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12 December 2020

Crooked tail (Cd) model of human folate-responsive neural tube defects is mutated in Wnt coreceptor lipoprotein receptor-related protein 6.

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12 December 2020

Chordin is required for the Spemann organizer transplantation phenomenon in Xenopus embryos

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12 December 2020

The homeobox gene bozozok promotes anterior neuroectoderm formation in zebrafish through negative regulation of BMP2/4 and Wnt pathways.

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12 December 2020

Neural induction by the secreted polypeptide noggin

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12 December 2020

Genes encoding catalytic subunits of protein kinase A and risk of spina bifida

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12 December 2020

Specification of dorsal spinal cord interneurons

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12 December 2020

The ankyrin repeat protein Diego mediates Frizzled-dependent planar polarization

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12 December 2020

Ciliogenesis defects in embryos lacking inturned or fuzzy function are associated with failure of planar cell polarity and Hedgehog signaling

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12 December 2020

The establishment of Spemann's organizer and patterning of the vertebrate embryo

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12 December 2020

A Requirement for Retinoic Acid-Mediated Transcriptional Activation in Ventral Neural Patterning and Motor Neuron Specification

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12 December 2020

The molecular basis of the undulated/Pax-1 mutation

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12 December 2020

Roles of Pax-genes in developing and adult brain as suggested by expression patterns.

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12 December 2020

Expression of the sonic hedgehog gene in human embryos with neural tube defects

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12 December 2020

Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida

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12 December 2020

Neural and head induction by insulin-like growth factor signals

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12 December 2020

BMP signaling patterns the dorsal and intermediate neural tube via regulation of homeobox and helix-loop-helix transcription factors.

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12 December 2020

Shroom induces apical constriction and is required for hingepoint formation during neural tube closure

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12 December 2020

A homeodomain protein code specifies progenitor cell identity and neuronal fate in the ventral neural tube

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12 December 2020

Opposing FGF and retinoid pathways control ventral neural pattern, neuronal differentiation, and segmentation during body axis extension

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12 December 2020

Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans

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12 December 2020

Thymidylate synthase repeat polymorphisms and risk of neural tube defects in a population from the northern United Kingdom

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12 December 2020

Mutations in PAX3 associated with Waardenburg syndrome type I.

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12 December 2020

Silberblick/Wnt11 mediates convergent extension movements during zebrafish gastrulation

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12 December 2020

Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse

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12 December 2020

Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. MRC Vitamin Study Research Group

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12 December 2020

10.1007/S10048-006-0052-2

Identifiers

DOI

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15 August 2017

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