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Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.
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Europe PubMed Central
PMC publication ID
3398826
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22855648%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 February 2020
title
Genetic Overlap between Holoprosencephaly and Kallmann Syndrome
(English)
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Europe PubMed Central
PMC publication ID
3398826
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22855648%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 February 2020
main subject
holoprosencephaly
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inferred from title
author
Taneli Raivio
series ordinal
2
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Europe PubMed Central
PMC publication ID
3398826
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22855648%20AND%20SRC:MED&resulttype=core&format=json
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9 February 2020
Johanna Tommiska
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6
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Europe PubMed Central
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3398826
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22855648%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 February 2020
Leena Valanne
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4
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3398826
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22855648%20AND%20SRC:MED&resulttype=core&format=json
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9 February 2020
author name string
K Vaaralahti
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1
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3398826
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9 February 2020
R Koivu
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3
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PMC publication ID
3398826
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22855648%20AND%20SRC:MED&resulttype=core&format=json
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9 February 2020
E-M Laitinen
series ordinal
5
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Europe PubMed Central
PMC publication ID
3398826
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9 February 2020
publication date
16 May 2012
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3398826
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retrieved
9 February 2020
published in
Molecular syndromology
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3398826
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retrieved
9 February 2020
volume
3
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3398826
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22855648%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 February 2020
issue
1
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Europe PubMed Central
PMC publication ID
3398826
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22855648%20AND%20SRC:MED&resulttype=core&format=json
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9 February 2020
page(s)
1-5
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3398826
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retrieved
9 February 2020
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Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia
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PubMed Central
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2 October 2017
Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions
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Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction
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Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland
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2 October 2017
Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes
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Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond
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Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring
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Expanding the phenotype and genotype of female GnRH deficiency
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A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans
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2 October 2017
Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions
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2 October 2017
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
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PubMed Central
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2 October 2017
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.
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2 October 2017
A method and server for predicting damaging missense mutations
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2 October 2017
Analysis of genotype-phenotype correlations in human holoprosencephaly
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PubMed Central
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2 October 2017
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism
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2 October 2017
Automated inference of molecular mechanisms of disease from amino acid substitutions.
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The recent genetics of hypogonadotrophic hypogonadism - novel insights and new questions
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2 October 2017
The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism
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Septo-optic dysplasia
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2 October 2017
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826
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2 October 2017
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice
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2 October 2017
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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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826
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2 October 2017
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.
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2 October 2017
Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism
1 reference
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2 October 2017
Holoprosencephaly
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826
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2 October 2017
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism
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2 October 2017
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2
1 reference
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PubMed Central
reference URL
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2 October 2017
Holoprosencephaly: clinical, anatomic, and molecular dimensions
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826
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2 October 2017
Kallmann's syndrome, a neuronal migration defect
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826
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2 October 2017
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826
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2 October 2017
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826
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2 October 2017
A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826
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2 October 2017
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826
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2 October 2017
Molecular mechanisms of holoprosencephaly
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826
retrieved
2 October 2017
Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826
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2 October 2017
Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826
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2 October 2017
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826
retrieved
2 October 2017
The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826
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2 October 2017
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826
retrieved
2 July 2018
Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826
retrieved
23 September 2018
Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826
retrieved
23 September 2018
Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826
retrieved
23 September 2018
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826
retrieved
23 September 2018
GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826
retrieved
23 September 2018
Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22855648
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Phenotypic and molecular variability of the holoprosencephalic spectrum
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22855648
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1159/000338706
1 reference
stated in
Europe PubMed Central
PMC publication ID
3398826
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22855648%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 February 2020
PMC publication ID
3398826
1 reference
stated in
Europe PubMed Central
PMC publication ID
3398826
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22855648%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 February 2020
PubMed publication ID
22855648
1 reference
stated in
Europe PubMed Central
PMC publication ID
3398826
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22855648%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 February 2020
ResearchGate publication ID
230599894
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