(Q51918192)

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Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.

scientific article published in April 2010

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Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20066439

Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE. (English)

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20066439

holoprosencephaly

1 reference

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inferred from title

Donna M. Martin

object named as

Donna M Martin

3

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author name string

Jill A Rosenfeld

1

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20066439

Blake C Ballif

2

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20066439

Arthur S Aylsworth

4

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Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20066439

Bassem A Bejjani

5

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20066439

Beth S Torchia

6

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20066439

Lisa G Shaffer

7

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Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20066439

publication date

1 April 2010

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Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20066439

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20066439

127

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20066439

4

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20066439

421-440

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20066439

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

1 reference

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21 January 2018

Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency

1 reference

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21 January 2018

GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?

1 reference

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21 January 2018

Caenorhabditis elegans ortholog of a diabetes susceptibility locus: oga-1 (O-GlcNAcase) knockout impacts O-GlcNAc cycling, metabolism, and dauer

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12 December 2020

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Gas1 extends the range of Hedgehog action by facilitating its signaling

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12 December 2020

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Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

1 reference

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12 December 2020

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Establishment of the telencephalon during gastrulation by local antagonism of Wnt signaling

1 reference

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12 December 2020

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Tau phosphorylation in transgenic mice expressing glycogen synthase kinase-3beta transgenes

1 reference

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12 December 2020

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Mutations in TITF-1 are associated with benign hereditary chorea

1 reference

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12 December 2020

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First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization.

1 reference

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12 December 2020

based on heuristic

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

1 reference

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12 December 2020

based on heuristic

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Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways

1 reference

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12 December 2020

based on heuristic

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Smoothened mutants reveal redundant roles for Shh and Ihh signaling including regulation of L/R symmetry by the mouse node

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

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Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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12 December 2020

based on heuristic

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Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

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Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dispatched, a novel sterol-sensing domain protein dedicated to the release of cholesterol-modified hedgehog from signaling cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of Meckel-Gruber syndrome and Dandy-Walker malformation in four consecutive affected siblings, with the fourth one being diagnosed prenatally at 22 weeks of gestation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Shifted from Wnt to Hedgehog signaling pathways

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chemical rescue of cleft palate and midline defects in conditional GSK-3beta mice.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mammalian twisted gastrulation gene functions in foregut and craniofacial development

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A tale of two proteins: differential roles and regulation of Smad2 and Smad3 in TGF-beta signaling

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Holoprosencephaly in deletions of proximal chromosome 14q.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

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/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal recessive alobar holoprosencephaly with essentially normal faces

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal foetal diagnosis of partial trisomy 3q and monosomy 13p due to a maternal balanced rearrangement

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gli2 is targeted for ubiquitination and degradation by beta-TrCP ubiquitin ligase.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Segregation analysis in nonsyndromic holoprosencephaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Holoprosencephaly: clinical, anatomic, and molecular dimensions

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Holoprosencephaly associated with an apparent isolated 2q37.1-->2q37.3 deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

FOXG1 is responsible for the congenital variant of Rett syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SCL/TAL1 interrupting locus derepresses GLI1 from the negative control of suppressor-of-fused in pancreatic cancer cell

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple hits during early embryonic development: digenic diseases and holoprosencephaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Holoprosencephaly: epidemiologic and clinical characteristics of a California population

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ongoing sonic hedgehog signaling is required for dorsal midline formation in the developing forebrain

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An Fgf8 mutant allelic series generated by Cre- and Flp-mediated recombination

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Trisomy 3q : two clinically similar but cytogenetically different cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial trisomy of chromosome 3 (3q12 leads to qter) owing to 3q/18p translocation. A trisomy 3q syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective forebrain development in mice lacking gp330/megalin

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

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/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct interaction of geminin and Six3 in eye development

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression pattern of Wnt inhibitor factor 1(Wif1) during the development in mouse CNS.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: searching for population variations

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Canonical Wnt signaling and its antagonist regulate anterior-posterior axis polarization by guiding cell migration in mouse visceral endoderm

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Decreased nuclear beta-catenin, tau hyperphosphorylation and neurodegeneration in GSK-3beta conditional transgenic mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial balanced insertion (5;10) and monosomy and trisomy (10) (q24.2----q25.3)

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Holoprosencephaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fgf8 regulates the development of intra-neocortical projections.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GSK3 takes centre stage more than 20 years after its discovery

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

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/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dose-dependent functions of Fgf8 in regulating telencephalic patterning centers

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

FGF8 signaling patterns the telencephalic midline by regulating putative key factors of midline development.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MRI and 1H�MRS findings in Smith-Lemli-Opitz syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new mutation in the six-domain of SIX3 gene causes holoprosencephaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cdc42 deficiency causes Sonic hedgehog-independent holoprosencephaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phosphoinositide 3-kinase and Akt are essential for Sonic Hedgehog signaling

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of de novo secondary trisomy 13.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Monosomy 10qter due to a balanced maternal translocation: t(10;8)(q23;p23)

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hedgehog-mediated patterning of the mammalian embryo requires transporter-like function of dispatched

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

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/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intrachromosomal insertions: a case report and a review

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic utility of array-based comparative genomic hybridization in a clinical setting

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion 2q37: an identifiable clinical syndrome with mental retardation and autism

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Is Dandy-Walker malformation associated with "distal 13q deletion syndrome"? Findings in a fetus supporting previous observations

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sorting nexin 6, a novel SNX, interacts with the transforming growth factor-beta family of receptor serine-threonine kinases

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Otx2 and HNF3beta genetically interact in anterior patterning.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Megalin functions as an endocytic sonic hedgehog receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

EAPP, a novel E2F binding protein that modulates E2F-dependent transcription

1 reference

https://pubmed.ncbi.nlm.nih.gov/20066439

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-009-0778-7

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20066439

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/20066439

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