(Q90724638)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31615056%20AND%20SRC:MED&resulttype=core&format=json

15 April 2020

title

A TAC3 Missense Variant in a Domestic Shorthair Cat with Testicular Hypoplasia and Persistent Primary Dentition (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31615056%20AND%20SRC:MED&resulttype=core&format=json

15 April 2020

3

1 reference

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15 April 2020

Tosso Leeb

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31615056%20AND%20SRC:MED&resulttype=core&format=json

15 April 2020

author name string

Petra Hug

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31615056%20AND%20SRC:MED&resulttype=core&format=json

15 April 2020

Patricia Kern

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31615056%20AND%20SRC:MED&resulttype=core&format=json

15 April 2020

publication date

14 October 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31615056%20AND%20SRC:MED&resulttype=core&format=json

15 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31615056%20AND%20SRC:MED&resulttype=core&format=json

15 April 2020

volume

10

1 reference

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15 April 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31615056%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

15 April 2020

copyright license

start time

14 October 2019

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome

1 reference

12 December 2020

Delayed Puberty and Hypogonadism Caused by Mutations in the Follicle-Stimulating Hormone β-Subunit Gene

1 reference

12 December 2020

Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor

1 reference

12 December 2020

Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay

1 reference

12 December 2020

Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion

1 reference

12 December 2020

Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred

1 reference

12 December 2020

Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenotypic effects of leptin replacement on morbid obesity, diabetes mellitus, hypogonadism, and behavior in leptin-deficient adults

1 reference

12 December 2020

Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH)

1 reference

12 December 2020

Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

1 reference

12 December 2020

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

1 reference

12 December 2020

Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction

1 reference

12 December 2020

Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.

1 reference

12 December 2020

Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.

1 reference

12 December 2020

TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans

1 reference

12 December 2020

TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood

1 reference

12 December 2020

A method and server for predicting damaging missense mutations

1 reference

12 December 2020

Hypothalamic dysfunction in a female with isolated hypogonadotropic hypogonadism and compound heterozygous TACR3 mutations and clinical manifestation in her heterozygous mother

1 reference

12 December 2020

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

1 reference

12 December 2020

Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations

1 reference

12 December 2020

Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy

1 reference

12 December 2020

Inactivating KISS1 mutation and hypogonadotropic hypogonadism

1 reference

12 December 2020

SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development

1 reference

12 December 2020

Hypogonadism in a patient with two novel mutations of the luteinizing hormone β-subunit gene expressed in a compound heterozygous form.

1 reference

12 December 2020

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

1 reference

12 December 2020

Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation

1 reference

12 December 2020

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome

1 reference

12 December 2020

Hypogonadotropic hypogonadism revisited

1 reference

12 December 2020

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism

1 reference

12 December 2020

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination

1 reference

12 December 2020

Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP

1 reference

12 December 2020

Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans

1 reference

12 December 2020

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

1 reference

12 December 2020

The kisspeptin-GnRH pathway in human reproductive health and disease

1 reference

12 December 2020

Mutations in FEZF1 cause Kallmann syndrome

1 reference

12 December 2020

SIFT missense predictions for genomes

1 reference

12 December 2020

Engineering a gene silencing viral construct that targets the cat hypothalamus to induce permanent sterility: An update.

1 reference

12 December 2020

Evidence of involvement of neurone-glia/neurone-neurone communications via gap junctions in synchronised activity of KNDy neurones.

1 reference

12 December 2020

A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves

1 reference

12 December 2020

Identifiers

DOI

10.3390/GENES10100806

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31615056%20AND%20SRC:MED&resulttype=core&format=json

15 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31615056%20AND%20SRC:MED&resulttype=core&format=json

15 April 2020

PubMed publication ID

31615056

1 reference