Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome. (Q37466322)

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21 January 2020

title

Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome (English)

1 reference

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21 January 2020

1 reference

hypogonadotropic hypogonadism

1 reference

8

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21 January 2020

author name string

Ning Xu

1

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21 January 2020

Hyung-Goo Kim

2

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21 January 2020

Balasubramanian Bhagavath

3

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21 January 2020

Sung-Gyu Cho

4

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21 January 2020

Jae Ho Lee

5

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21 January 2020

Kyungsoo Ha

6

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21 January 2020

Irene Meliciani

7

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21 January 2020

Robert H Podolsky

9

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21 January 2020

Lynn P Chorich

10

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21 January 2020

Kathryn A Stackhouse

11

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21 January 2020

Anna M H Grove

12

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21 January 2020

Lawrence N Odom

13

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21 January 2020

Metin Ozata

14

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21 January 2020

David P Bick

15

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21 January 2020

Richard J Sherins

16

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21 January 2020

Soo-Hyun Kim

17

1 reference

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21 January 2020

Richard S Cameron

18

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21 January 2020

Lawrence C Layman

19

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21 January 2020

language of work or name

English

0 references

publication date

15 February 2011

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21 January 2020

published in

Fertility and Sterility

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21 January 2020

volume

95

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21 January 2020

issue

5

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21 January 2020

page(s)

1613-20.e1-7

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NELF is a nuclear protein involved in hypothalamic GnRH neuronal migration

21 January 2020

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

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

23 August 2017

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The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

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Clinical manifestations of impaired GnRH neuron development and function

23 August 2017

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

23 August 2017

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Autoregulation of the Rsc4 Tandem Bromodomain by Gcn5 Acetylation

23 August 2017

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Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

23 August 2017

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

23 August 2017

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Myosin16b: The COOH-tail region directs localization to the nucleus and overexpression delays S-phase progression

23 August 2017

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Expresso: automatic incorporation of structural information in multiple sequence alignments using 3D-Coffee

23 August 2017

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Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

23 August 2017

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Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism

23 August 2017

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Minireview: recent progress in gonadotropin-releasing hormone neuronal migration.

23 August 2017

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Splicing in action: assessing disease causing sequence changes

23 August 2017

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23 August 2017

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

23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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Novel gene expressed in nasal region influences outgrowth of olfactory axons and migration of luteinizing hormone-releasing hormone (LHRH) neurons

23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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14 September 2017

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Genetic analysis in patients with Kallmann syndrome: coexistence of mutations in prokineticin receptor 2 and KAL1.

28 September 2017

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26 June 2018

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Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.

26 June 2018

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Nasal embryonic LHRH factor plays a role in the developmental migration and projection of gonadotropin-releasing hormone 3 neurons in zebrafish.

26 June 2018

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KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans.

2 September 2018

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Prediction-based fingerprints of protein-protein interactions.

2 September 2018

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Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation

2 September 2018

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Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly

2 September 2018

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Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene

2 September 2018

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Methyl deficiency causes reduction of the methyl-CpG-binding protein, MeCP2, in rat liver

2 September 2018

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

2 September 2018

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Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism.

2 September 2018

1 reference

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Nasal embryonic LHRH factor (NELF) expression within the CNS and PNS of the rodent

2 September 2018

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12 December 2020

The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism

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12 December 2020

Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension

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12 December 2020

The spectrum of mutations causing HPRT deficiency: an update

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12 December 2020

10.1016/J.FERTNSTERT.2011.01.010

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21300340%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21300340%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference