(Q31097430)

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Holoprosencephaly

scientific article

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scholarly article

1 reference

Europe PubMed Central

11 November 2017

3 references

22 April 2019

25 April 2019

6 July 2020

Holoprosencephaly (English)

1 reference

Europe PubMed Central

11 November 2017

holoprosencephaly

4 references

based on heuristic

inferred from title

22 April 2019

25 April 2019

6 July 2020

author name string

Christèle Dubourg

1

1 reference

Europe PubMed Central

11 November 2017

Claude Bendavid

2

1 reference

Europe PubMed Central

11 November 2017

Laurent Pasquier

3

1 reference

Europe PubMed Central

11 November 2017

Catherine Henry

4

1 reference

Europe PubMed Central

11 November 2017

Sylvie Odent

5

1 reference

Europe PubMed Central

11 November 2017

Véronique David

6

1 reference

Europe PubMed Central

11 November 2017

publication date

2 February 2007

4 references

Europe PubMed Central

11 November 2017

22 April 2019

25 April 2019

6 July 2020

Orphanet Journal of Rare Diseases

4 references

Europe PubMed Central

11 November 2017

22 April 2019

25 April 2019

6 July 2020

2

1 reference

Europe PubMed Central

11 November 2017

8

1 reference

Europe PubMed Central

11 November 2017

copyright license

Creative Commons Attribution 2.0 Generic

3 references

Europe PubMed Central

22 April 2019

Europe PubMed Central

25 April 2019

Europe PubMed Central

6 July 2020

copyright status

0 references

on focus list of Wikimedia project

0 references

https://scigraph.springernature.com/pub.10.1186/1750-1172-2-8

0 references

Holoprosencephaly: clinical, anatomic, and molecular dimensions

1 reference

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21 June 2018

Familial deletion 18p syndrome: case report

1 reference

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21 June 2018

Cdo functions at multiple points in the Sonic Hedgehog pathway, and Cdo-deficient mice accurately model human holoprosencephaly

1 reference

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21 June 2018

Auditory event-related responses in children with semi-lobar holoprosencephaly

1 reference

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21 June 2018

Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition.

1 reference

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21 June 2018

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes

1 reference

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21 June 2018

Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly.

1 reference

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21 June 2018

Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype

1 reference

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21 June 2018

Targeted disruption of Tgif, the mouse ortholog of a human holoprosencephaly gene, does not result in holoprosencephaly in mice

1 reference

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21 June 2018

Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes

1 reference

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21 June 2018

The Carter Neurocognitive Assessment for children with severely compromised expressive language and motor skills.

1 reference

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21 June 2018

First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations

1 reference

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21 June 2018

Mouse Disp1 is required in sonic hedgehog-expressing cells for paracrine activity of the cholesterol-modified ligand

1 reference

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21 June 2018

Evaluation and management of children with holoprosencephaly

1 reference

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21 June 2018

Functional characterization of sonic hedgehog mutations associated with holoprosencephaly

1 reference

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21 June 2018

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations

1 reference

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21 June 2018

White matter imaging in holoprosencephaly in children

1 reference

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21 June 2018

The mammalian twisted gastrulation gene functions in foregut and craniofacial development

1 reference

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21 June 2018

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features

1 reference

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21 June 2018

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

1 reference

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21 June 2018

Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations

1 reference

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21 June 2018

A floor plate enhancer of the zebrafish netrin1 gene requires Cyclops (Nodal) signalling and the winged helix transcription factor FoxA2.

1 reference

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21 June 2018

The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly

1 reference

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21 June 2018

Chordin and noggin promote organizing centers of forebrain development in the mouse

1 reference

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21 June 2018

Multiple hits during early embryonic development: digenic diseases and holoprosencephaly

1 reference

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21 June 2018

Neuroanatomy of holoprosencephaly as predictor of function: beyond the face predicting the brain

1 reference

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21 June 2018

Six3 inactivation reveals its essential role for the formation and patterning of the vertebrate eye

1 reference

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21 June 2018

A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects

1 reference

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21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

21 June 2018

A freely diffusible form of Sonic hedgehog mediates long-range signalling

1 reference

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21 June 2018

Assessment of the deep gray nuclei in holoprosencephaly

1 reference

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21 June 2018

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

21 June 2018

The genomic structure, chromosome location, and analysis of the human DKK1 head inducer gene as a candidate for holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

21 June 2018

Genetic approaches to understanding brain development: holoprosencephaly as a model

1 reference

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21 June 2018

The EGF-CFC gene family in vertebrate development.

1 reference

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21 June 2018

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

21 June 2018

Risk factors for cytogenetically normal holoprosencephaly in California: a population-based case-control study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

21 June 2018

Zic2 regulates the kinetics of neurulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

21 June 2018

Nodal signalling in vertebrate development.

1 reference

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21 June 2018

Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

21 June 2018

Holoprosencephaly survival and performance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

21 June 2018

Molecular mechanisms of holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

21 June 2018

Mammalian BMP-1/Tolloid-related metalloproteinases, including novel family member mammalian Tolloid-like 2, have differential enzymatic activities and distributions of expression relevant to patterning and skeletogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

21 June 2018

Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly

1 reference

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21 June 2018

Vertebrate Hedgehog signalling modulated by induction of a Hedgehog-binding protein

1 reference

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21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

21 June 2018

Interactions between Bmp-4 and Msx-1 act to restrict gene expression to odontogenic mesenchyme

1 reference

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21 June 2018

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

1 reference

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21 June 2018

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

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21 June 2018

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

1 reference

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21 June 2018

Holoprosencephaly: epidemiologic and clinical characteristics of a California population

1 reference

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21 June 2018

Holoprosencephaly in the west of Scotland 1975-1994.

1 reference

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21 June 2018

Defective forebrain development in mice lacking gp330/megalin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

21 June 2018

Relationship between asymmetric nodal expression and the direction of embryonic turning

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

21 June 2018

Middle interhemispheric fusion: an unusual variant of holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

21 June 2018

Nodal is a novel TGF-beta-like gene expressed in the mouse node during gastrulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

21 June 2018

Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

21 June 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

21 June 2018

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations

1 reference

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21 June 2018

Holoprosencephaly and facial dysmorphia: nosology, etiology and pathogenesis

1 reference

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21 June 2018

[Arhinencephalia: considerations apropos of a case diagnosed during life]

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21 June 2018

Velo-cardio-facial syndrome presenting as holoprosencephaly

1 reference

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21 June 2018

A male infant with holoprosencephaly, associated with ring chromosome 21.

1 reference

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21 June 2018

Cyclopia and congenital cytomegalovirus infection.

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21 June 2018

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

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21 June 2018

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

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21 June 2018

Holoprosencephaly in an infant with a minute deletion of chromosome 21(q22.3).

1 reference

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21 June 2018

Cytomegalovirus infection in children with AIDS.

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21 June 2018

Cerebral midline developmental anomalies: spectrum and associated features

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21 June 2018

Teratogenic effect of the cholesterol synthesis inhibitor AY 9944 on rat embryos in vitro

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21 June 2018

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

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21 June 2018

Holoprosencephaly and midline facial anomalies: redefining classification and management.

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21 June 2018

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

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21 June 2018

Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases

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21 June 2018

Prenatal diagnosis of a possible new middle interhemispheric variant of holoprosencephaly using sonographic and magnetic resonance imaging.

1 reference

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25 November 2018

TGIF, a gene associated with human brain defects, regulates neuronal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

25 November 2018

A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers.

1 reference

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25 November 2018

Expression pattern of TG-interacting factor 2 during mouse development.

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25 November 2018

Craniofacial anomalies of the cultured mouse embryo induced by inhibition of sonic hedgehog signaling: an animal model of holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

25 November 2018

Axon pathfinding and the floor plate factor Reissner's substance in wildtype, cyclops and one-eyed pinhead mutants of Danio rerio.

1 reference

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25 November 2018

A retrospective survey of perinatal risk factors of 104 living children with holoprosencephaly.

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25 November 2018

Inactivation of dispatched 1 by the chameleon mutation disrupts Hedgehog signalling in the zebrafish embryo

1 reference

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25 November 2018

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

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25 November 2018

Middle interhemispheric variant of holoprosencephaly: a distinct cliniconeuroradiologic subtype.

1 reference

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25 November 2018

Mouse Dispatched homolog1 is required for long-range, but not juxtacrine, Hh signaling.

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25 November 2018

Possible association of NTDs with a polyhistidine tract polymorphism in the ZIC2 gene

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25 November 2018

The middle interhemispheric variant of holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

25 November 2018

BMP4 plays a key role in left-right patterning in chick embryos by maintaining Sonic Hedgehog asymmetry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

25 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

25 November 2018

Segregation analysis in nonsyndromic holoprosencephaly.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

25 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

25 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

25 November 2018

Letter: Holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1802747

25 November 2018

[Two cases of cyclopia]

1 reference

https://pubmed.ncbi.nlm.nih.gov/17274816

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/17274816

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spatiotemporal expression patterns of mammalian chordin during postgastrulation embryogenesis and in postnatal brain

1 reference

https://pubmed.ncbi.nlm.nih.gov/17274816

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Holoprosencephaly associated with ring chromosome 21

1 reference

https://pubmed.ncbi.nlm.nih.gov/17274816

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fetal holoprosencephaly: associated malformations and chromosomal defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/17274816

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17274816

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Essential role for Sonic hedgehog during hair follicle morphogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17274816

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Perioperative considerations for a holoprosencephaly patient]

1 reference

https://pubmed.ncbi.nlm.nih.gov/17274816

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic and molecular variability of the holoprosencephalic spectrum

1 reference

https://pubmed.ncbi.nlm.nih.gov/17274816

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Holoprosencephaly presenting as membranous aplasia cutis and diabetes insipidus: report of one case

1 reference

https://pubmed.ncbi.nlm.nih.gov/17274816

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cerebral edema: neurosurgical aspects of pathological, diagnostic and therapeutic problems (author's transl)

1 reference

https://pubmed.ncbi.nlm.nih.gov/17274816

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Holoprosencephaly in infants of diabetic mothers

1 reference

https://pubmed.ncbi.nlm.nih.gov/17274816

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1750-1172-2-8

1 reference

Europe PubMed Central

11 November 2017

Dimensions Publication ID

0 references

1 reference

Europe PubMed Central

11 November 2017

1 reference

Europe PubMed Central

11 November 2017

ResearchGate publication ID

0 references

Sitelinks

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