(Q48362570)

English

Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.

scientific article published on 22 July 2017

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scholarly article

1 reference

Europe PubMed Central

11 February 2018

http://europepmc.org/abstract/MED/28734020

Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations. (English)

1 reference

Europe PubMed Central

11 February 2018

http://europepmc.org/abstract/MED/28734020

João Luiz de Oliveira Madeira

1

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6 June 2020

Mirian Yumie Nishi

2

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6 June 2020

14

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6 June 2020

Berenice Bilharinho Mendonca

17

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6 June 2020

author name string

Marilena Nakaguma

3

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6 June 2020

Anna F Benedetti

4

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6 June 2020

Isabela Peixoto Biscotto

5

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6 June 2020

Thamiris Fernandes

6

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6 June 2020

Thiago Pequeno

7

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6 June 2020

Thalita Figueiredo

8

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6 June 2020

Marcela M Franca

9

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6 June 2020

Fernanda A Correa

10

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6 June 2020

Aline P Otto

11

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6 June 2020

Milena Abrão

12

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6 June 2020

Mirta B Miras

13

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6 June 2020

Alexander Al Jorge

15

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6 June 2020

Everlayny F Costalonga

16

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6 June 2020

Ivo Jp Arnhold

18

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6 June 2020

Luciani R Carvalho

19

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6 June 2020

publication date

22 July 2017

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11 February 2018

http://europepmc.org/abstract/MED/28734020

Clinical Endocrinology

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6 June 2020

87

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6 June 2020

6

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6 June 2020

725-732

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6 June 2020

Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13430

21 January 2018

Human Prop-1: cloning, mapping, genomic structure

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13430

21 January 2018

Mutations in PROP1 cause familial combined pituitary hormone deficiency

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13430

21 January 2018

Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13430

21 January 2018

High prevalence of PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone deficiency.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13430

21 January 2018

PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13430

21 January 2018

Mutations and pituitary morphology in a series of 82 patients with PROP1 gene defects.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13430

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13430

21 January 2018

HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13430

21 January 2018

Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13430

21 January 2018

Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13430

21 January 2018

Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13430

21 January 2018

Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13430

21 January 2018

Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13430

21 January 2018

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13430

21 January 2018

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13430

21 January 2018

Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13430

21 January 2018

Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13430

21 January 2018

PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13430

21 January 2018

Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13430

21 January 2018

A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13430

21 January 2018

Molecular diagnostic profiling of lung cancer specimens with a semiconductor-based massive parallel sequencing approach: feasibility, costs, and performance compared with conventional sequencing

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13430

21 January 2018

Identifiers

10.1111/CEN.13430

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28734020%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

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6 June 2020

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