Genetic Overlap between Holoprosencephaly and Kallmann Syndrome. (Q36100642)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22855648%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

title

Genetic Overlap between Holoprosencephaly and Kallmann Syndrome (English)

1 reference

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9 February 2020

1 reference

2

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9 February 2020

Johanna Tommiska

6

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9 February 2020

Leena Valanne

4

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9 February 2020

author name string

K Vaaralahti

1

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9 February 2020

R Koivu

3

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9 February 2020

E-M Laitinen

5

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9 February 2020

publication date

16 May 2012

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9 February 2020

published in

Molecular syndromology

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9 February 2020

volume

3

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9 February 2020

issue

1

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9 February 2020

page(s)

1-5

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Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia

9 February 2020

cites work

1 reference

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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

2 October 2017

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Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction

2 October 2017

1 reference

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Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland

2 October 2017

1 reference

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Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes

2 October 2017

1 reference

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Septo-optic dysplasia and other midline defects: The role of transcription factors: HESX1 and beyond

2 October 2017

1 reference

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Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring

2 October 2017

1 reference

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Expanding the phenotype and genotype of female GnRH deficiency

2 October 2017

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A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans

2 October 2017

1 reference

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Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

2 October 2017

1 reference

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WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

2 October 2017

1 reference

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Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

2 October 2017

1 reference

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A method and server for predicting damaging missense mutations

2 October 2017

1 reference

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Analysis of genotype-phenotype correlations in human holoprosencephaly

2 October 2017

1 reference

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Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism

2 October 2017

1 reference

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Automated inference of molecular mechanisms of disease from amino acid substitutions.

2 October 2017

1 reference

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The recent genetics of hypogonadotrophic hypogonadism - novel insights and new questions

2 October 2017

1 reference

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The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism

2 October 2017

1 reference

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2 October 2017

Septo-optic dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826

Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826

2 October 2017

1 reference

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Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

2 October 2017

1 reference

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Holoprosencephaly: clinical, anatomic, and molecular dimensions

2 October 2017

1 reference

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Kallmann's syndrome, a neuronal migration defect

2 October 2017

1 reference

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Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826

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

2 October 2017

1 reference

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

2 October 2017

1 reference

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

2 October 2017

1 reference

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Molecular mechanisms of holoprosencephaly

2 October 2017

1 reference

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Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826

Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826

The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826

Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826

Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398826

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

23 September 2018

1 reference

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Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations

23 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22855648

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Phenotypic and molecular variability of the holoprosencephalic spectrum

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22855648

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1159/000338706

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22855648%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22855648%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

PubMed publication ID

22855648

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22855648%20AND%20SRC:MED&resulttype=core&format=json